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
SMARCC2	6601	broad.mit.edu	37	12	56575853	56575853	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575853A>G	ENST00000394023.3	-	8	748	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	215					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTGGGATCCACGTGTCGTAA	0.443000													7	31					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95502188	95502188	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:95502188A>G	ENST00000297591.5	-	23	5338	c.5263T>C	c.(5263-5265)Tta>Cta	p.L1755L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1755					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGGGTCGTAATGGTGGAAGA	0.418000													13	36					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091250	74091250	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:74091250G>A	ENST00000443185.2	-	4	3137	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGCTGCGCGCCAGCCCGGG	0.701000													7	33					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981919	176981919	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:176981919C>T	ENST00000249501.4	+	1	613	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	120						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTCTGATAAGCGCAACAAACT	0.493000													24	90					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028839	76028839	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:76028839C>T	ENST00000319211.4	+	2	1054	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	263					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAACCCTGCTCGAAGGCTACT	0.507000													4	58					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807165	152807165	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152807165G>A	ENST00000370186.1	+	4	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	149					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAGGGCGAGGCCGAAGC	0.602000													15	26					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157260	14157260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:14157260G>A	ENST00000263379.2	+	8	1096	c.971G>A	c.(970-972)cGt>cAt	p.R324H		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	324	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCTGCCCCCCGTAGCGTGGCA	0.637000													6	106					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149514471	149514471	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149514471A>G	ENST00000261799.4	-	4	942	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	158	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAGTGTCACCACCAGCTG	0.498000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								15	70					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663786	53663786	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53663786C>T	ENST00000257934.4	+	3	1151	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	354					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CACCAAGAGGCGCTATAGACT	0.537000													8	39					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:56840987G>A	ENST00000257287.4	+	11	1449	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	442					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373000													4	38					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537000													24	107					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638334	46638334	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:46638334A>G	ENST00000303383.3	-	6	995	c.729T>C	c.(727-729)ctT>ctC	p.L243L		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	243										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCAACAATAAGTCCTGATG	0.373000													16	69					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86106421	86106421	+	Silent	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:86106421A>C	ENST00000445632.2	+	5	873	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Silent_p.R111R|CCDC81_ENST00000528728.1_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	201										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGGCCTTGAGGAAGTGGCC	0.547000													7	40					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483360	26483360	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:26483360G>A	ENST00000295589.3	-	5	1381	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	396					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTCTCCCCTCGCCCCTGGGGG	0.627000													17	77					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823682	10823682	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:10823682T>C	ENST00000250237.5	+	9	1035	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	342					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACGGCCGCGCTGCACCACCTC	0.687000													7	25					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488072	128488072	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128488072C>T	ENST00000325888.8	+	26	4791	c.4530C>T	c.(4528-4530)gaC>gaT	p.D1510D	FLNC_ENST00000346177.6_Silent_p.D1510D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1510					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCCACTGACGGGCCCTACA	0.657000													6	9					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086233	53086233	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53086233G>A	ENST00000341809.3	-	7	1427	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	KRT77_ENST00000537195.1_Missense_Mutation_p.R234C	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	467	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R467S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCAGCTGGCGGTAGGTGGCG	0.632000													13	63					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8138396	8138396	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8138396T>C	ENST00000315684.8	-	8	1421	c.1414A>G	c.(1414-1416)Aag>Gag	p.K472E		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	472					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCCAGGGCCTTGGTAGCCCAC	0.632000													5	63					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49434174	49434174	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49434174C>A	ENST00000301067.7	-	31	7378	c.7379G>T	c.(7378-7380)cGt>cTt	p.R2460L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAATGGGTCACGGGACTGAGG	0.632000													17	74					5.35267e-07	5.45012e-07	1	1	0
PDE4D	5144	broad.mit.edu	37	5	59064275	59064275	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:59064275G>A	ENST00000507116.1	-	1	196	c.61C>T	c.(61-63)Cca>Tca	p.P21S	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P21S|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CACGGGTTTGGACAATGCGGA	0.498000													11	96					0	0	1	0	0
GGCT	79017	broad.mit.edu	37	7	30538451	30538451	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:30538451C>T	ENST00000275428.4	-	3	525	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	131					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGAGCACTTTCGTAATTTGTC	0.343000													12	53					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52664400	52664400	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:52664400C>T	ENST00000399231.3	-	21	2981	c.2738G>A	c.(2737-2739)cGc>cAc	p.R913H	MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	913	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCCACTGAGCGAGCCTCGAT	0.522000													12	35					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:50208490G>A	ENST00000392518.4	+	10	1271	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587000													20	98					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47407560	47407560	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:47407560G>A	ENST00000361866.3	+	8	910	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	266	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCGACCCCGGCTTTGAGGT	0.682000													10	62					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24031220	24031220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24031220G>A	ENST00000308724.5	-	16	2439	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	562					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACAGCCCGCTGCTGCAGCTCC	0.602000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124975893	124975893	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:124975893T>C	ENST00000559895.1	-	5	1276	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373755.2_Missense_Mutation_p.Y320C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	320	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTCTCAATGTAGCCGTGCAG	0.736000													7	25					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722740	58722740	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58722740G>A	ENST00000300079.5	+	6	548	c.498G>A	c.(496-498)acG>acA	p.T166T	GLYATL1_ENST00000317391.4_Silent_p.T135T|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCTTGGTTACGGAAGATATTC	0.443000													8	67					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52481974	52481974	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:52481974C>T	ENST00000216286.5	-	15	3047	c.3048G>A	c.(3046-3048)ccG>ccA	p.P1016P	NID2_ENST00000541773.1_Silent_p.P915P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1016	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACAGATGGTCGGGGGCCTCT	0.577000													9	47					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56713245	56713245	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56713245C>T	ENST00000425394.2	-	23	3505	c.3129G>A	c.(3127-3129)tcG>tcA	p.S1043S	PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S|PAN2_ENST00000549090.1_5'UTR	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1043	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTTTATACCCGAGTATTGAG	0.443000													10	64					0	0	1	0	0
MSL3P1	0	broad.mit.edu	37	2	234775651	234775651	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234775651C>T	ENST00000438684.1	-	0	463					NR_024322.1																						GTGATGGTGACGAGGCCTCTC	0.438000													7	35					0	0	1	0	0
PCDHGA5	0	broad.mit.edu	37	5	140744399	140744399	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140744399C>T	ENST00000518069.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACTCTCTCCGGAGTTACCA	0.512000													3	26					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38835668	38835668	+	Splice_Site	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:38835668T>C	ENST00000302495.4	+	4	1066		c.e4+2			NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4						proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAATTAATGTAAGTCACTTA	0.537000													5	14					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27689214	27689214	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:27689214C>T	ENST00000261588.4	+	7	724	c.705C>T	c.(703-705)ggC>ggT	p.G235G	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	235										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCCAGTGGCGACTGGACTC	0.562000													10	51					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38039124	38039124	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:38039124A>G	ENST00000283713.6	+	7	978	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A			O15195	VILL_HUMAN	villin-like	238					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGTGCCGCCACGCCCAGCAA	0.632000													8	54					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098266	13098266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13098266G>A	ENST00000399002.2	+	8	1320	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	349					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCAACCGGCCGGGGTGTCACG	0.498000													8	94					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968581	200968581	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:200968581C>T	ENST00000332129.2	-	13	2097	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R594Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	594					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTCTCGTCTCGCTCTTCCTC	0.632000													18	81					0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798868	124798868	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124798868C>A	ENST00000324038.3	+	3	448	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	FAM101A_ENST00000389727.3_Missense_Mutation_p.R150S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S|FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	150										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCAACTACCGCAGCCAGCT	0.642000													15	110					3.52763e-06	3.56688e-06	1	1	0
NDST1	3340	broad.mit.edu	37	5	149915319	149915319	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149915319T>C	ENST00000261797.6	+	6	1811	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	437	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGCGTGTACCCCGTGCA	0.642000													13	48					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894692	90894692	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:90894692A>G	ENST00000287934.2	+	1	910	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	166	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCTGAGCTCAAGTTCTTCCTG	0.657000													25	155					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118487710	118487710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:118487710C>T	ENST00000311085.8	+	19	4761	c.4681C>T	c.(4681-4683)Cga>Tga	p.R1561*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1561										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCAGCCTATCGAGCTCAACT	0.383000													5	46					0	0	1	0	0
CCL17	6361	broad.mit.edu	37	16	57447847	57447847	+	Translation_Start_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:57447847G>A	ENST00000219244.4	+	2	132	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	1					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CTGGCACCATGGCCCCACTGA	0.642000													5	10					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702895	88702895	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88702895G>A	ENST00000372027.4	-	6	1719	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	549						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCTTTGTGCGCGTCCACGGC	0.751000													3	7					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558764	113558764	+	Silent	SNP	C	C	T	rs111896635	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:113558764C>T	ENST00000284601.3	-	1	356	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	96					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGAAAATGTCCGTCCCTAAGT	0.383000													11	55					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50994313	50994313	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:50994313G>A	ENST00000442544.2	+	25	4285	c.3669G>A	c.(3667-3669)tcG>tcA	p.S1223S	DCC_ENST00000581580.1_Silent_p.S858S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1223					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGAGGTCGCTGGCTGCAC	0.522000													16	61					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167868736	167868736	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:167868736C>T	ENST00000265293.4	+	16	2832	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_ENST00000521089.1_Missense_Mutation_p.S777L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	777	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607000													7	47					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75053837	75053837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:75053837C>T	ENST00000453279.2	-	11	1707	c.843G>A	c.(841-843)tgG>tgA	p.W281*	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Nonsense_Mutation_p.W523*	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	523	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCTGGTTGAACCACTGTAATG	0.468000													10	92					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543822	23543822	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:23543822A>G	ENST00000300619.7	-	4	2164	c.1959T>C	c.(1957-1959)acT>acC	p.T653T	ZNF91_ENST00000397082.2_Silent_p.T621T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTTCTCTCCAGTATGAATTC	0.383000													7	35					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022927G>A	ENST00000341156.4	-	7	1299	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532000													5	18					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535421	145535421	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145535421C>T	ENST00000528838.1	+	8	919	c.759C>T	c.(757-759)taC>taT	p.Y253Y	HSF1_ENST00000400780.4_Silent_p.Y188Y	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672000													5	45					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12187198	12187198	+	RNA	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:12187198G>A	ENST00000432424.2	+	0	719							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCAGACTTCGTGCTCATCCG	0.527000													7	30					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761273	96761273	+	Translation_Start_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:96761273G>A	ENST00000295266.4	+	0	35					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACGGGACGCCGCTGCCATCTA	0.637000													3	4					0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1826215	1826215	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1826215T>A	ENST00000307394.7	+	8	1311	c.1311T>A	c.(1309-1311)gaT>gaA	p.D437E	EME2_ENST00000568449.1_Missense_Mutation_p.D372E			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAACCCTGATCTCCTGCTGG	0.692000								Direct reversal of damage;Homologous recombination					19	107					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145051834	145051834	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145051834G>A	ENST00000313028.7	-	11	2990	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	PARP10_ENST00000524918.1_Missense_Mutation_p.R957W|PARP10_ENST00000525773.1_Missense_Mutation_p.R978W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	966	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.R966W(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACCCCGCAGAGGGGGC	0.706000													3	12					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56297223	56297223	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56297223G>A	ENST00000408946.2	-	2	230	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000557259.1_Silent_p.G39G	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	27	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCTGCTTGCGCCAGGTCCCG	0.468000													9	55					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3750452	3750452	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3750452G>A	ENST00000378230.3	-	12	1957	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	545						centriole	binding	p.R545C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTGACGCGGAGGCGGGCA	0.443000													5	53					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61924008	61924008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:61924008C>T	ENST00000332981.5	+	8	1460	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	359	Protein kinase.		R -> Q (in dbSNP:rs55818778).		intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGTTCATCCGAGTGTTGGG	0.488000													13	65					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64418402	64418402	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:64418402C>T	ENST00000353874.4	+	6	671	c.635C>T	c.(634-636)cCg>cTg	p.P212L	SNX1_ENST00000261889.5_Missense_Mutation_p.P212L|SNX1_ENST00000559844.1_Missense_Mutation_p.P212L|SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000560829.1_Intron			Q13596	SNX1_HUMAN	sorting nexin 1	212	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCCGCCCCCGGAGAAGAGC	0.433000													6	25					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349894	103349894	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:103349894G>A	ENST00000357421.4	-	2	227	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	16					transport	integral to membrane|mitochondrial inner membrane		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522000													6	16					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821330	5821330	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:5821330G>A	ENST00000381095.3	-	5	2016	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y|NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	463					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGGAGCCGTACTGCGCGT	0.612000													7	17					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12058329	12058329	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12058329G>A	ENST00000482090.1	+	2	555	c.136_splice	c.e2-1	p.G46_splice	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Splice_Site_p.G64_splice			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTATTTTAGGAAAAAAATGG	0.368000													5	40					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32667453	32667453	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:32667453C>T	ENST00000421745.2	+	19	4302	c.4168C>T	c.(4168-4170)Cgt>Tgt	p.R1390C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1390					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGACATCGTACGTGTTTGCTT	0.398000													3	7					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315489	30315489	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:30315489C>T	ENST00000375377.1	-	3	3689	c.3588G>A	c.(3586-3588)ttG>ttA	p.L1196L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1196										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTTGGACTCCAAGGGGCTGG	0.547000													28	139					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305232	61305232	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453000													7	56					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951365	235951365	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:235951365G>A	ENST00000409212.1	+	4	2459	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	651					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCAGGACCGCCCGGTGTCC	0.547000													11	70					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45796900	45796900	+	Missense_Mutation	SNP	G	G	A	rs138353003		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:45796900G>A	ENST00000450313.1	-	14	1645	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000372098.3_Missense_Mutation_p.T474M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	474	Nudix hydrolase.		Missing (in CAPAR; dysfunctional in base excision repair assay).		depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCTGCGTCAGCCAGCG	0.507000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				13	62					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532526	16532526	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16532526C>T	ENST00000270747.3	-	8	1487	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.V451M|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	451	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCACACGCTGAAGCGC	0.647000													4	3					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869697	151869697	+	Silent	SNP	G	G	A	rs144510184		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:151869697G>A	ENST00000329342.5	+	3	612	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522000													21	140					0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9662288	9662288	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:9662288C>T	ENST00000340305.5	+	6	1127	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMEM201_ENST00000340381.6_Missense_Mutation_p.A373V|TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	373						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCTGTGGCCACAAGGAAG	0.647000													5	34					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738255	110738255	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:110738255C>T	ENST00000331565.4	+	10	2025	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	514					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.F511_R514del(1)|p.R514C(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCAGCGCTCCGGAAA	0.582000													8	52					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910928	4910928	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4910928C>T	ENST00000396658.4	+	6	1638	c.935C>T	c.(934-936)aCg>aTg	p.T312M	UBN1_ENST00000262376.6_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	312					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GACTCGCTGACGGATTTGGAC	0.562000													13	60					0	0	1	0	0
TRAV36DV7	0	broad.mit.edu	37	14	22694893	22694893	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:22694893C>T	ENST00000390463.3	+	0	100																											TGGTACAAAGCCCTCTATCTC	0.453000													7	50					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5743014	5743014	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:5743014G>A	ENST00000414202.2	+	9	1237		c.e9+1		KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373000													7	24					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603650	13603650	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:13603650T>A	ENST00000040738.5	-	10	5009	c.4874A>T	c.(4873-4875)gAc>gTc	p.D1625V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1625							DNA binding										TGCTGCTCTGTCCTCAGATTC	0.502000													12	83					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401347	77401347	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:77401347G>A	ENST00000282849.5	-	4	1187	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTTCTTGCGTCGTCCACAA	0.443000													7	43					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455746	72455746	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:72455746C>T	ENST00000309731.7	-	10	830	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	273						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTAGGGCAGGCAGGACCCCAG	0.532000													5	81					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813295	41813295	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:41813295G>A	ENST00000304330.4	-	22	3205	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1030	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTCCTAACGACAGCTGGTC	0.587000													11	67					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	28					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17418973	17418973	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:17418973G>A	ENST00000375486.4	-	6	648	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_ENST00000375481.1_Silent_p.P195P|PADI2_ENST00000444885.2_Intron	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537000													9	44					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93708993	93708993	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:93708993A>G	ENST00000334746.5	-	11	3332	c.3025T>C	c.(3025-3027)Tat>Cat	p.Y1009H	BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H|BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1009										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGTGGATATTCTCTCCTA	0.498000													19	92					0	0	1	0	0
AC068533.7	0	broad.mit.edu	37	7	65553837	65553837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:65553837C>T	ENST00000450043.1	+	2	67	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	ASL_ENST00000395332.3_Silent_p.S254S|ASL_ENST00000395331.3_Silent_p.S254S|ASL_ENST00000304874.9_Silent_p.S254S|ASL_ENST00000380839.4_Silent_p.S228S																							CCCATCTCAGCAGGATGGCCG	0.582000													9	24					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84104352	84104352	+	Silent	SNP	G	G	A	rs141003439		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84104352G>A	ENST00000343411.3	-	13	2118	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	541					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTGTCTCCGTTCTGTGGCA	0.493000													13	53					0	0	1	0	0
NOXO1	0	broad.mit.edu	37	16	2030958	2030958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:2030958G>A	ENST00000354249.4	-	2	498	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NOXO1_ENST00000356120.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000397280.4_Silent_p.D43D	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	43	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCCTGAATTCGTCCCAACTCC	0.642000													12	36					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180260	3180260	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:3180260G>A	ENST00000380989.2	-	27	3118	c.3080C>T	c.(3079-3081)cCg>cTg	p.P1027L	PITRM1_ENST00000224949.4_Missense_Mutation_p.P1026L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	928					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGCAATTTTCGGGTTCTCGGG	0.582000													4	18					0	0	1	0	0
CLDN15	24146	broad.mit.edu	37	7	100880655	100880655	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100880655C>T	ENST00000401528.1	-	2	1333	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T|CLDN15_ENST00000433422.1_5'UTR	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	70					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGAGAGGGCCAGCATGGAC	0.637000													3	16					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151234660	151234660	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151234660G>A	ENST00000368884.3	+	2	130	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTATATGCGGAATGGAGAC	0.493000													12	66					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47799780	47799780	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47799780G>A	ENST00000591416.1	-	13	1939	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MBD1_ENST00000457839.2_Missense_Mutation_p.A528V|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	503					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGTATCCGCCTTCTCTTG	0.602000													11	50					0	0	1	0	0
LRRC10	376132	broad.mit.edu	37	12	70004150	70004150	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70004150G>A	ENST00000361484.3	-	1	792	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	157						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCAGCAAACGCAGGGCGTTG	0.627000													8	42					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390048	22390048	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22390048C>T	ENST00000334304.5	-	19	3515	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1082					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCTCCATTCGTCCCATTAG	0.502000													5	30					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:13423524G>A	ENST00000360228.5	-	12	1626	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGTAAGGCCGCGTCCCAAGC	0.438000													9	45					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40319624	40319624	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40319624C>T	ENST00000544981.1	-	3	444	c.432G>A	c.(430-432)tcG>tcA	p.S144S	TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000316891.5_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron			Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	0					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGTGAGTTACGAGTGAACTA	0.388000													5	17					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726000													4	21					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634985	70634985	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70634985G>A	ENST00000381269.2	-	2	908	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	52					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCAGTCCGATGACCCTGA	0.547000													6	34					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160080827	160080827	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:160080827C>T	ENST00000263635.6	+	23	4000	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1255						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CATCGGCTGCCGGAACACATC	0.597000													4	51					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147110	154147110	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:154147110C>T	ENST00000389740.2	-	1	394	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	99						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGGAAGTAACCGGGGACCTCG	0.488000													21	77					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657652	18657652	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:18657652T>C	ENST00000380548.4	+	8	1189	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	284						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACTCGGGCTCCGCTGACAG	0.493000													7	22					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109506	151109506	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151109506G>A	ENST00000341697.3	-	11	2492	c.801C>T	c.(799-801)ggC>ggT	p.G267G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	267	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGCGAGCCGCCCATGTCAC	0.567000													18	113					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034682	150034682	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150034682G>A	ENST00000359623.4	+	3	1320	c.732G>A	c.(730-732)gcG>gcA	p.A244A	LRRC61_ENST00000493307.1_Silent_p.A244A|LRRC61_ENST00000323078.7_Silent_p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	244										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGGCGGAGCAGGTAC	0.677000													4	32					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103335662	103335662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103335662G>A	ENST00000258436.5	-	6	685	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	214					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGAACCAAACGAGACCTGTTA	0.483000													13	80					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3728407	3728407	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:3728407G>A	ENST00000587686.1	+	1	34	c.34G>A	c.(34-36)Gct>Act	p.A12T	TJP3_ENST00000589378.1_Intron|TJP3_ENST00000382008.3_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000541714.2_Intron|TJP3_ENST00000539908.2_Intron			O95049	ZO3_HUMAN	tight junction protein 3	0	PDZ 1.					tight junction	protein binding	p.A12T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCCCCGCTCCCCTCGA	0.632000													8	20					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	775122	775122	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:775122C>T	ENST00000293889.6	-	6	621	c.516G>A	c.(514-516)gcG>gcA	p.A172A		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	172										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GATGCTCCAGCGCCCACTTCA	0.652000													14	75					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135790919	135790919	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:135790919C>T	ENST00000250617.6	-	8	2043	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	280	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAACCTCCACAGTACTCAGA	0.358000													6	13					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579134	49579134	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49579134G>A	ENST00000301071.7	-	4	1359	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C|TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339C	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGGATGGTACGCTTGGTCTTG	0.547000													11	74					0	0	1	0	0
C9orf89	84270	broad.mit.edu	37	9	95869990	95869990	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562000													5	27					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189592	11189592	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:11189592G>A	ENST00000382435.4	+	1	1196	c.977G>A	c.(976-978)cGg>cAg	p.R326Q		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	326						integral to membrane		p.R326Q(1)									ATTACAGCCCGGAACCTCAGC	0.527000													5	63					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:141011689G>A	ENST00000508812.1	+	5	2965	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000286353.4_Missense_Mutation_p.R362H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	362						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGGATGCAGCGTGCCACCGAG	0.547000													15	77					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K|CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592000													14	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588313	179588313	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179588313T>G	ENST00000589042.1	-	74	21738	c.21514A>C	c.(21514-21516)Aga>Cga	p.R7172R	TTN_ENST00000591111.1_Silent_p.R6855R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.R5928R|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6855	Ig-like 53.						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)			CTGGCACCTCTGAACCAGTTG	0.413000													3	18					0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180235547	180235547	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:180235547C>T	ENST00000263726.2	+	3	513	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	90	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAAAATGCACGGCCTGCCAG	0.612000													9	73					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575860	56575860	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575860G>A	ENST00000394023.3	-	8	741	c.636C>T	c.(634-636)taC>taT	p.Y212Y	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.Y212Y|SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Silent_p.Y212Y	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	212					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCCACGTGTCGTAACTGCCAT	0.438000													5	30					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488000													15	55					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29965224	29965224	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29965224C>T	ENST00000216121.7	-	4	579	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	109								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGTTGCCCACGAGTGAGCAT	0.637000													3	29					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23712400	23712400	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:23712400G>A	ENST00000256797.4	-	12	1551	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	413					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGCAGCTCGGAGTCCCAAA	0.552000													13	57					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986872	118986872	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118986872G>A	ENST00000336702.3	+	14	2389	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	676						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGTCCGAAAGAAGGCC	0.592000													14	40					0	0	1	0	0
LINC00842	0	broad.mit.edu	37	10	47133468	47133468	+	RNA	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:47133468A>G	ENST00000422732.2	-	0	435					NR_033957.1																						TCCTCCCTTCATGGGTCCAAA	0.453000													13	164					0	0	1	0	0
AURKB	9212	broad.mit.edu	37	17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8108653G>A	ENST00000316199.6	-	8	822	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AURKB_ENST00000585124.1_Missense_Mutation_p.R248C|AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C			Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567000													18	72					0	0	1	0	0
PHYHIPL	84457	broad.mit.edu	37	10	60994140	60994140	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:60994140A>G	ENST00000373880.4	+	2	447	c.183A>G	c.(181-183)atA>atG	p.I61M	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	61	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGCAATATAACGTGTGACT	0.368000													4	24					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65143972	65143972	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65143972G>A	ENST00000371073.2	+	23	3223	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1075					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGTCCCTACGTTGATGACAT	0.448000													5	25					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910582	101910582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:101910582G>A	ENST00000537097.1	+	6	2554	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	581	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACAATATTCGGGTCCTGGTT	0.507000													24	52					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15175097	15175097	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:15175097C>T	ENST00000355694.2	-	19	1914	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	TTC39B_ENST00000512701.1_Silent_p.P626P|TTC39B_ENST00000297615.5_Silent_p.P557P|TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000380850.4_Silent_p.P613P|TTC39B_ENST00000507285.1_Silent_p.P461P	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	560							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGAGTGAACGGCACTAGGT	0.373000													10	43					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20021006	20021006	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20021006G>A	ENST00000294543.6	-	15	1662	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	474						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAGCTGCACCGAGGATGTGCG	0.617000													30	120					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433639	40433639	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40433639C>T	ENST00000221347.6	-	2	637	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTTGACCCCGAGAGATCCA	0.547000													7	78					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964315	32964315	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:32964315G>A	ENST00000321639.5	+	10	2347	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	673						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCCACTGTGACCCAGGACC	0.617000													23	128					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963422	96963422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:96963422G>A	ENST00000323853.5	-	10	1233	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	386						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTGTCCATTCGAGACTGACGC	0.463000													6	51					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170048428	170048428	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:170048428G>A	ENST00000263816.3	-	48	9231	c.8946C>T	c.(8944-8946)taC>taT	p.Y2982Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2982	LDL-receptor class A 22.			Y -> H (in Ref. 3; AAB02882).	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Y2982Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATTCTCATCGTAGCCGTCAG	0.473000													4	60					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370144	69370144	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:69370144G>A	ENST00000342206.6	+	5	1342	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IGBP1_ENST00000356413.4_Silent_p.P281P			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	281					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGCATTACCGGATCAGGGAA	0.463000													7	3					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370883	240370883	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:240370883C>T	ENST00000319653.9	+	5	3001	c.2771C>T	c.(2770-2772)cCg>cTg	p.P924L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	924	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCGCCGCCTCTACCC	0.677000													27	73					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512000													56	315					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78363706	78363706	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78363706C>T	ENST00000582970.1	+	66	15417	c.15274C>T	c.(15274-15276)Cgg>Tgg	p.R5092W	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTGCTGCGGCTGCACAA	0.507000													7	60					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40653340	40653340	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40653340C>T	ENST00000298910.7	+	13	1535	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	493					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTTATGAAACGTCATGAGAC	0.413000													5	49					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5274309	5274309	+	Silent	SNP	C	C	T	rs140383630		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:5274309C>T	ENST00000372412.4	-	3	371	c.138G>A	c.(136-138)tcG>tcA	p.S46S	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.S46S|PTPRS_ENST00000587303.1_Silent_p.S46S|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S|PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000262963.6_Silent_p.S46S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	46	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCACACCCCCCGACACGCCGA	0.597000													12	37					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630114	11630114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:11630114G>A	ENST00000423059.3	-	4	1677	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	476	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACTTAATTGTGAGAGGAGG	0.507000										HNSCC(18;0.044)			7	36					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049673	69049673	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69049673A>G	ENST00000295381.3	+	10	1818	c.1399A>G	c.(1399-1401)Aat>Gat	p.N467D	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	467					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						GATCTTTAAAAATGAATTCTG	0.473000													18	73					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028044	38028044	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:38028044C>T	ENST00000406772.1	+	16	2003	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	GGA1_ENST00000343632.4_Missense_Mutation_p.R524C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C|GGA1_ENST00000381756.5_Missense_Mutation_p.R541C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	524	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCACGGCTTCCGCATCCTCTT	0.647000													10	54					0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9746375	9746375	+	Silent	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:9746375T>G	ENST00000318950.6	+	4	688	c.585T>G	c.(583-585)acT>acG	p.T195T	SWAP70_ENST00000447399.2_Silent_p.T137T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	195						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACCGGCAGACTGTGTCTATGG	0.333000													16	52					0	0	1	0	0
C6orf70	0	broad.mit.edu	37	6	170159960	170159960	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:170159960C>T	ENST00000588451.1	+	7	767	c.254C>T	c.(253-255)aCg>aTg	p.T85M	C6orf70_ENST00000366773.3_Missense_Mutation_p.T211M|C6orf70_ENST00000366772.2_Missense_Mutation_p.T211M|C6orf70_ENST00000418781.3_Missense_Mutation_p.T211M|C6orf70_ENST00000392095.4_Missense_Mutation_p.T85M			Q5T6L9	CF070_HUMAN		211						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATACTGTTGACGGCAGGATTG	0.358000													8	44					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226857	2226857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:2226857C>T	ENST00000398665.3	+	27	4373	c.4337C>T	c.(4336-4338)cCg>cTg	p.P1446L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1446						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GGCCTGGCCCCGGCGGCGTCC	0.756000													6	34					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201800586	201800586	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:201800586C>T	ENST00000234296.2	-	9	793	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	182					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.E182*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GCAGAATATTCGCTTTCACTG	0.428000													5	25					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14491012	14491012	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:14491012C>T	ENST00000249923.3	-	15	2135	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	612					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGGGAAATTCGATCCACATC	0.408000													10	45					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51064979	51064979	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:51064979G>A	ENST00000301180.5	+	5	472	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	146	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACACATCTTCGGCCTCTGAGG	0.468000													5	51					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684477	55684477	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55684477T>C	ENST00000370830.3	-	2	1357	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	220					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGATGATTTGATATATGCT	0.323000													6	16					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5140531	5140531	+	Silent	SNP	C	C	T	rs138095454		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:5140531C>T	ENST00000427587.4	-	5	446	c.378G>A	c.(376-378)acG>acA	p.T126T	FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	126										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGATGATGGCCGTGCTCTCGG	0.587000													10	84					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151670568	151670568	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:151670568G>A	ENST00000402676.2	+	4	1282	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E348K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	348	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTTGCCTCCGAGAAACTGAC	0.537000													7	69					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131073267	131073267	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:131073267G>A	ENST00000357668.1	-	27	2777	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	ASAP1_ENST00000518721.1_Missense_Mutation_p.P917L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	917	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATTTCGGGCGGGATGGTGGC	0.532000													14	118					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262921	232262921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232262921C>T	ENST00000287590.5	+	2	752	c.491C>T	c.(490-492)gCg>gTg	p.A164V	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	164					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGGCAGTCCGCGGGTGGGGGC	0.701000													4	17					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636041	44636041	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:44636041C>T	ENST00000322734.2	+	3	689	c.356C>T	c.(355-357)tCa>tTa	p.S119L	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTGGAAAGTCACATCTTATT	0.448000													8	31					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868103	23868103	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:23868103T>G	ENST00000405093.3	-	15	1795	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	MYH6_ENST00000356287.3_Missense_Mutation_p.E575D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	575	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGAAGTGGGCTTCCTGCTTCC	0.547000													10	40					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525928	41525928	+	Missense_Mutation	SNP	C	C	T	rs142163190		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:41525928C>T	ENST00000396942.1	-	39	5334	c.5251G>A	c.(5251-5253)Gag>Aag	p.E1751K	ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1751K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1751	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTCTCGTACTCCTGA	0.582000													11	59					0	0	1	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:44549172T>C	ENST00000451265.1	-	1	1362	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						CTCTGTGCGGTACGGCTGATC	0.577000													19	354					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M|SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597000													4	44					0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180324131	180324131	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:180324131C>T	ENST00000412756.2	+	8	1089	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000296015.4_Silent_p.N340N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	340							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAAACAAAACGTGGAAGCTT	0.363000													5	52					0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47428238	47428238	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:47428238C>T	ENST00000377045.4	+	11	1392	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	400	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCCGACACACGCTTCGACAT	0.632000											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47630341	47630341	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:47630341A>T	ENST00000455779.1	+	14	1426	c.1241A>T	c.(1240-1242)aAa>aTa	p.K414I	PHKB_ENST00000323584.5_Missense_Mutation_p.K421I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I|PHKB_ENST00000299167.8_Missense_Mutation_p.K421I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	421					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATATGAAAAAAATAACCCT	0.348000													6	77					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034589	95034589	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:95034589C>T	ENST00000557004.1	+	4	1468	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA4_ENST00000298841.5_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	349					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGACTTATCCGGCATCACCA	0.507000													4	31					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70070800	70070800	+	Missense_Mutation	SNP	G	G	A	rs149210955	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70070800G>A	ENST00000330891.5	-	7	989	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	255						chloride channel complex|plasma membrane	chloride channel activity	p.R255C(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAACTGGCGTCCAATCAGG	0.517000													9	51					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137321060	137321060	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:137321060C>T	ENST00000540193.1	+	6	1649	c.726C>T	c.(724-726)agC>agT	p.S242S	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.S339S			P19793	RXRA_HUMAN	retinoid X receptor, alpha	339	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCGCCCACAGCGCAGGGGTGG	0.687000													21	77					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136574943	136574943	+	Missense_Mutation	SNP	C	C	T	rs147029208		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:136574943C>T	ENST00000264162.2	-	6	1685	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	559	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)		TCAGAGATGCCGGGAGGGTGC	0.552000													9	57					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12540985	12540985	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12540985A>G	ENST00000301547.5	-	4	2198	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	667					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGTCTTTTTATGTCTATGCA	0.343000													10	36					0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11369998	11369998	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:11369998C>T	ENST00000435245.2	-	1	339	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_Missense_Mutation_p.R77H			P04554	PRM2_HUMAN	protamine 2	77					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCGTCTTTTGCGCCTTCTGCA	0.652000													11	42					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981521	44981521	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44981521T>C	ENST00000221327.4	-	5	1458	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G|ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGTGCGAGCTCCGGCTGAAG	0.453000													5	46					0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38249345	38249345	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38249345G>A	ENST00000264637.4	+	10	1763	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000394121.4_Missense_Mutation_p.V395I	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	395					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCACTGGGCGTCCACCCGGA	0.592000													5	56					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	15					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298375	36298375	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36298375C>T	ENST00000437635.2	-	2	270	c.93G>A	c.(91-93)tcG>tcA	p.S31S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	31										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGTCCCACGACTCCGAGC	0.647000													6	105					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127549357	127549357	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:127549357G>A	ENST00000373580.3	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	65										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGCCGAGTGCGCAGTGGGCGG	0.647000													9	61					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120587427	120587427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:120587427G>A	ENST00000300648.6	-	36	4541	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1510					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCCGCCACGATTCCTCCTC	0.577000													16	62					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036519	177036519	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:177036519G>A	ENST00000468418.3	+	4	2906	c.816G>A	c.(814-816)ccG>ccA	p.P272P	HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD3_ENST00000249440.3_Silent_p.P272P			P31249	HXD3_HUMAN	homeobox D3	272					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGCCCACCGCTCGGCGGCG	0.687000													7	49					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24357937	24357937	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:24357937G>A	ENST00000274766.1	+	1	807	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	DCDC2_ENST00000378454.3_Silent_p.P14P	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	24					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCACGACGGGCTGAGACA	0.667000													12	73					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1527550	1527550	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:1527550G>A	ENST00000389470.4	-	20	2745	c.2746C>T	c.(2746-2748)Cgg>Tgg	p.R916W	INTS1_ENST00000404767.3_Missense_Mutation_p.R788W			Q8N201	INT1_HUMAN	integrator complex subunit 1	788					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTCCGTCCGGGTCTCCTCA	0.667000													33	145					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16254791	16254791	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16254791A>G	ENST00000259727.4	+	4	405		c.e4-1			NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase						nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTTGGTGCAGAATGTAGCC	0.468000													7	57					0	0	1	0	0
PRKX	5613	broad.mit.edu	37	X	3592735	3592735	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:3592735A>G	ENST00000262848.5	-	2	593	c.239T>C	c.(238-240)aTg>aCg	p.M80T		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	80	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGAATGCTCATCACCTTGAG	0.552000													19	38					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36439077	36439077	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36439077G>A	ENST00000373191.4	+	5	972	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	AGO3_ENST00000397828.2_Missense_Mutation_p.R208Q|AGO3_ENST00000324350.5_Missense_Mutation_p.R208Q|AGO3_ENST00000246314.6_Intron	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		CAGTCTGTTCGGCCTGCCATG	0.468000													24	138					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46721968	46721968	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:46721968G>A	ENST00000318962.4	-	14	1583	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALS2CL_ENST00000415953.1_Silent_p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	500					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CACCTGCCTGGGTGACCATGA	0.617000													17	111					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	428070	428070	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:428070C>T	ENST00000316418.5	+	9	967	c.923C>T	c.(922-924)gCg>gTg	p.A308V	AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000505113.1_Missense_Mutation_p.A290V|AHRR_ENST00000512529.1_Missense_Mutation_p.A136V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGAGGAGCGCGCTCCTGAGG	0.652000													5	27					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33171401	33171401	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33171401C>T	ENST00000374677.3	+	7	1594	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.G407G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	407				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGCAGTGGGCAGTGAAATTG	0.567000													5	77					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35345870	35345870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:35345870C>T	ENST00000225402.5	+	6	1251	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	334	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAAGCAGCAACGAAGAAGGGT	0.448000													4	37					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36634623	36634623	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:36634623C>T	ENST00000373448.2	-	4	2717	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	TTI1_ENST00000373447.3_Missense_Mutation_p.V827I|TTI1_ENST00000449821.1_Missense_Mutation_p.V827I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	827							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAATCCGAGACATTTCCATCT	0.388000													12	94					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68232984	68232984	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:68232984C>T	ENST00000347230.4	-	32	6109	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1991					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCGGCTTTGACGAACATCATC	0.547000													22	69					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101258793	101258793	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:101258793G>A	ENST00000259455.2	-	4	1093	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	212					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGTCATTCCGCACCTGTCAG	0.547000													5	28					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906752	74906752	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74906752G>A	ENST00000357877.2	+	14	1878	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	577					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGAAGTTCCCGTGGCTACAGC	0.552000													30	193					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29754917	29754917	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29754917C>A	ENST00000357586.2	-	5	509	c.323G>T	c.(322-324)cGg>cTg	p.R108L	AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L|AP1B1_ENST00000405198.1_Missense_Mutation_p.R108L|AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	108					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						GCCCATGGTCCGCACTGCCAG	0.622000													3	17					1	1	1	1	0
SLC12A4	6560	broad.mit.edu	37	16	67981973	67981973	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67981973T>C	ENST00000422611.2	-	13	1883	c.1844A>G	c.(1843-1845)tAc>tGc	p.Y615C	SLC12A4_ENST00000316341.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	613					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGATAGTACTTGAACCG	0.602000													21	126					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36824360	36824360	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36824360G>A	ENST00000359297.2	-	2	183	c.176C>T	c.(175-177)aCg>aTg	p.T59M	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Missense_Mutation_p.T59M|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000373132.3_Missense_Mutation_p.T59M			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	59	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GAAGTCATCCGTGCCATCTTT	0.567000													8	36					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466495	114466495	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:114466495T>A	ENST00000513154.1	-	9	1916	c.1590A>T	c.(1588-1590)ggA>ggT	p.G530G	TRIM36_ENST00000514154.1_Silent_p.G387G|TRIM36_ENST00000282369.3_Silent_p.G542G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	542	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGATTAAATCCAGCTCTAC	0.398000													10	53					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89337296	89337296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89337296G>A	ENST00000301030.4	-	12	8195	c.7735C>T	c.(7735-7737)Cgc>Tgc	p.R2579C	AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2579						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACGGTCGCGCACTGACTTG	0.597000													6	26					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175886	57175886	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:57175886G>A	ENST00000537055.2	-	2	912	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCCTTGGCGCACTGGGCGC	0.706000													12	20					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124988246	124988246	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:124988246G>A	ENST00000522917.1	+	9	998	c.792G>A	c.(790-792)gcG>gcA	p.A264A	FER1L6_ENST00000399018.1_Silent_p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	264	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCATCATGGCGAACGTCACCA	0.507000													27	126					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101661556	101661556	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101661556G>A	ENST00000311812.2	-	2	237	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	29	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGAGGAACCCGTCCAGGTGCA	0.627000													6	51					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608824	98608824	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98608824G>A	ENST00000359863.4	+	70	11255	c.11046G>A	c.(11044-11046)gcG>gcA	p.A3682A	TRRAP_ENST00000355540.3_Silent_p.A3653A|TRRAP_ENST00000446306.3_Silent_p.A3671A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3682	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGCTTCGCGGAATTCGTCC	0.537000													15	85					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47505158	47505158	+	Missense_Mutation	SNP	C	C	T	rs151115170		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47505158C>T	ENST00000371901.3	+	8	1277	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W|CYP4X1_ENST00000466294.1_3'UTR	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGAGAGATGCCGGGAGGAGGT	0.522000													6	42					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20668422	20668422	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20668422G>A	ENST00000404938.2	+	4	872	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	271	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAAATGAGTGATAACCTTAT	0.393000													4	16					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:76241900G>A	ENST00000298832.9	+	22	2415	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAGTCGACGATTGGCA	0.448000													14	66					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694826	48694826	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:48694826G>A	ENST00000236495.5	+	4	441	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532000													23	134					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123426765	123426765	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:123426765G>A	ENST00000360772.3	-	17	2604	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000475616.1_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577000													9	30					0	0	1	0	0
CABP7	164633	broad.mit.edu	37	22	30125184	30125184	+	Silent	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:30125184C>A	ENST00000216144.3	+	4	848	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	169						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGGAGTGTCCCGTGGATGTGG	0.637000													3	14					2.56e-06	2.5957e-06	1	1	0
LGI3	203190	broad.mit.edu	37	8	22006441	22006441	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22006441G>A	ENST00000306317.2	-	8	1168	c.879C>T	c.(877-879)taC>taT	p.Y293Y	LGI3_ENST00000424267.2_Silent_p.Y269Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	293					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACGACCACGTACAGCTGGC	0.637000													3	29					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547000													24	85					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:57422471C>T	ENST00000543257.1	-	4	772	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	C8B_ENST00000535057.1_Missense_Mutation_p.R59Q|C8B_ENST00000371237.4_Missense_Mutation_p.R121Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483000													49	255					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4805274	4805274	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:4805274C>A	ENST00000293780.4	-	5	463	c.453G>T	c.(451-453)gaG>gaT	p.E151D	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	151					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						AGTAGGTGACCTCCACTGCGC	0.617000													16	62					1.5739e-10	1.61613e-10	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72157464	72157464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72157464G>A	ENST00000537465.1	-	18	2847	c.2689C>T	c.(2689-2691)Caa>Taa	p.Q897*	PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.Q58*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	897										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGCCCATTGCTCCAAGTTG	0.547000													5	33					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29099850	29099850	+	Missense_Mutation	SNP	G	G	A	rs121913013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:29099850G>A	ENST00000261590.8	+	3	375	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	56	Cadherin 1.		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy).		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACCGCCCCCGTGGCTCTTCG	0.443000													14	30					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179025750	179025750	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179025750C>T	ENST00000319449.4	+	14	1701	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000393438.2_Silent_p.R455R|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	563					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTCAGCGCGAATTACAGC	0.478000										HNSCC(44;0.11)			15	99					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468308	56468308	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56468308T>C	ENST00000312153.1	+	1	445	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGTCTCATATTGTGGTGGCTT	0.453000													9	116					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57545300	57545300	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:57545300C>T	ENST00000311180.8	+	3	1502	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	467							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGTATATTCGCCTCATTCA	0.328000													12	25					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22389827G>A	ENST00000334304.5	-	19	3736	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1156					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453000													5	50					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910063	129910063	+	Silent	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:129910063A>T	ENST00000368654.3	-	11	2481	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	702					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACTGTGAACTTCGCCCA	0.443000													12	41					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341682	55341682	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55341682G>A	ENST00000391728.4	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000326542.7_Silent_p.T412T	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGTACACGGAACTTCCAA	0.512000													36	88					0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39382073G>A	ENST00000402182.3	+	3	486	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R144H			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587000													17	72					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78357529	78357529	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78357529G>A	ENST00000582970.1	+	59	14266	c.14123G>A	c.(14122-14124)cGt>cAt	p.R4708H	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGATAAGCGTATCAGCTCT	0.438000													13	56					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792315	792315	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:792315T>C	ENST00000320230.5	-	8	1212	c.731A>G	c.(730-732)aAc>aGc	p.N244S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	244						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ATCACAGGGGTTGACGGCCAC	0.692000													9	122					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270144	16270144	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16270144C>T	ENST00000375733.2	-	11	1764	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q|ZBTB17_ENST00000375743.4_Missense_Mutation_p.R509Q			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	509					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAAACTGTCGCTGGCAGTG	0.672000													11	46					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104142908	104142908	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:104142908C>T	ENST00000388887.2	+	59	6616	c.6412C>T	c.(6412-6414)Cac>Tac	p.H2138Y	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2138	EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCACGAGCACGCCACCTG	0.607000													8	38					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865589	148865589	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:148865589C>T	ENST00000367467.3	+	18	3458	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	995	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCAGAGAACGCCTTGCTAA	0.612000													13	71					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65366866	65366866	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65366866G>A	ENST00000309100.3	-	9	2690	c.2206_splice	c.e9+1	p.R735_splice	MAP3K11_ENST00000530153.1_Splice_Site_p.R478_splice|MAP3K11_ENST00000532507.1_Splice_Site_p.R151_splice	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	735	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACTCACCGCGGGGCTCCT	0.687000													3	10					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517000													15	66					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044583	119044583	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:119044583G>A	ENST00000334464.5	-	5	1900	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	554	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGAATTTTCGGTGGTAGTGG	0.423000													15	64					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494345	160494345	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160494345T>C	ENST00000356956.1	+	34	4939	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1597					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGGGTCCCCTTGTCCCTCCA	0.577000													11	30					0	0	1	0	0
KLRAP1	0	broad.mit.edu	37	12	10750711	10750711	+	RNA	SNP	A	A	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:10750711A>C	ENST00000510134.2	-	0	245																				breast(1)|large_intestine(1)|lung(1)	3						TCTGAAGGAGACTGCAAAAAT	0.383000													16	89					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760443	89760443	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89760443G>A	ENST00000268125.5	-	5	693	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	85					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACCCTCTCCGCCACGGCCAC	0.667000													9	53					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427785	119427785	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:119427785C>T	ENST00000369429.3	-	8	1388	c.1379G>A	c.(1378-1380)aGc>aAc	p.S460N	TBX15_ENST00000207157.3_Missense_Mutation_p.S354N			Q96SF7	TBX15_HUMAN	T-box 15	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTCCATCTTGCTGTTGCCAGG	0.567000													6	62					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127956952	127956952	+	Splice_Site	SNP	C	C	T	rs138626696		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:127956952C>T	ENST00000335247.7	-	4	682	c.552_splice	c.e4+1	p.T184_splice	CYP27C1_ENST00000409327.1_Splice_Site_p.T184_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	184						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCAGACTCACCGTGTCGACGC	0.562000													10	107					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073512	20073512	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:20073512C>T	ENST00000351989.3	+	2	455	c.26C>T	c.(25-27)cCg>cTg	p.P9L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	9	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCCTCTCCGCTCCCGTGT	0.557000													14	104					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350061	89350061	+	Silent	SNP	G	G	A	rs139955323		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89350061G>A	ENST00000301030.4	-	9	3349	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	ANKRD11_ENST00000378330.2_Silent_p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	963	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCCTGCCGTCCCTGCGCT	0.647000													26	106					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136568130	136568130	+	Missense_Mutation	SNP	C	C	T	rs148314623		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136568130C>T	ENST00000371872.4	-	13	1833	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R	SARDH_ENST00000422262.2_Missense_Mutation_p.G358R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.G526R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	526					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.G526W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGTAAGCCCCGTAGTAGTCG	0.667000													8	31					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93624977	93624977	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:93624977G>A	ENST00000394236.3	-	5	673	c.357C>T	c.(355-357)gaC>gaT	p.D119D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GACTACACTGGTCTGGAATGG	0.358000													12	68					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716036	153716036	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153716036C>T	ENST00000263512.4	-	2	1742	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q|SLC10A3_ENST00000393587.4_Missense_Mutation_p.R415Q	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	415					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGACCGTCCGCCGCTGGGC	0.642000													3	19					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397716	76397716	+	Silent	SNP	G	G	A	rs11811988		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378000													10	28					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5550838	5550838	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:5550838C>T	ENST00000379019.4	-	12	1316	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	368	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATACCACGGGCACAAAGTCCT	0.363000													4	46					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107309880	107309880	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:107309880C>T	ENST00000282251.5	-	6	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	CWF19L2_ENST00000433523.1_Silent_p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	200							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTCCAGTACGGATTCAATT	0.318000													6	12					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779319	205779319	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:205779319C>T	ENST00000367137.3	-	2	1265	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	84						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGGCGCAGGGCCACGGTCTGT	0.627000													10	75					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512000													12	43					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58615359	58615359	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:58615359G>A	ENST00000317147.5	-	11	1437	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	369					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R369C(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTGTCACGAATTTGAAAT	0.373000													7	40					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40223918C>T	ENST00000280871.4	-	7	1482	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378000										HNSCC(50;0.14)			5	22					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	C	T	rs139869704	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:116718256C>T	ENST00000375300.1	-	22	3749	c.3744G>A	c.(3742-3744)tcG>tcA	p.S1248S	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.S1188S|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1130S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512000													26	110					0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148586656	148586656	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:148586656C>T	ENST00000506113.1	+	5	1016	c.534C>T	c.(532-534)tgC>tgT	p.C178C	ABLIM3_ENST00000356541.3_Silent_p.C178C|ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000504238.1_Silent_p.C178C|ABLIM3_ENST00000326685.7_Silent_p.C178C|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	178	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAAGTGCCAGACCTGCA	0.622000													10	40					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943479	17943479	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:17943479C>T	ENST00000458235.1	-	19	2628	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	JAK3_ENST00000534444.1_Silent_p.P843P|JAK3_ENST00000527670.1_Silent_p.P843P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	843	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTCGCCTAGCGGGTCATAGC	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								15	76					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74948199	74948199	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:74948199C>T	ENST00000315127.4	-	4	876	c.695G>A	c.(694-696)cGt>cAt	p.R232H	EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	232	Required for interaction with DDX6 (By similarity).				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						GCCCCGGGAACGGGTACCACT	0.502000													11	51					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:4479895A>G	ENST00000237837.1	-	3	515	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597000													20	110					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000488453.1_3'UTR|UTP11L_ENST00000537711.1_Intron	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	159					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433000													8	70					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627000													16	81					2.35188e-11	2.42184e-11	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47955075	47955075	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47955075T>C	ENST00000289672.2	-	8	1232	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	394					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tactggggtctgagtcttcca	0.398000													12	48					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746769	156746769	+	Splice_Site	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:156746769G>T	ENST00000347377.6	+	14	1787		c.e14-1		CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000521420.1_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCCCAGGTGATCGCCA	0.597000													5	24					1.23904e-05	1.25109e-05	1	1	0
BRPF3	27154	broad.mit.edu	37	6	36181863	36181863	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36181863C>T	ENST00000357641.6	+	8	2942	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	897					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCTTTGCAACGCTTGCTCAG	0.537000													16	101					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628275	51628275	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51628275C>T	ENST00000440804.3	+	1	111	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A15V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	15					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGGAGAGGGCGGAAGGACAG	0.612000													7	36					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71536662	71536662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:71536662G>A	ENST00000370920.3	-	7	832	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ZRANB2_ENST00000254821.6_Silent_p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	177	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGAGATCAGCGTCATCTTCAT	0.328000													3	10					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40199855	40199855	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40199855C>T	ENST00000392052.3	+	4	545	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AAATGGCCAACGCATTTACAA	0.463000													10	41					0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101586126	101586126	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101586126G>A	ENST00000311812.2	-	14	1440	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SNX31_ENST00000428383.2_Silent_p.C331C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	430					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCCCAAAAACGCAGTCATCTT	0.348000													3	26					0	0	1	0	0
PCDHGB6	0	broad.mit.edu	37	5	140789375	140789375	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140789375G>A	ENST00000520790.1	+	1	1606	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCACGGCTC	0.687000													3	22					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627570	30627570	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30627570C>T	ENST00000376442.3	-	11	1992	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	DHX16_ENST00000376437.5_Silent_p.V118V|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	599	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGATCTGCAACACAGATACTA	0.562000													8	36					0	0	1	0	0
IL1RAP	0	broad.mit.edu	37	3	190322109	190322109	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:190322109G>A	ENST00000412504.2	+	3	509	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	86	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTAACTTCCGCCTCCCCGAG	0.507000													15	51					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506591	48506591	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:48506591T>G	ENST00000435803.1	+	44	12878	c.12854T>G	c.(12853-12855)cTg>cGg	p.L4285R	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4285					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGTGCTTCTGCGGAAGTTT	0.478000													22	104					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933631	47933631	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47933631T>C	ENST00000289672.2	-	15	2347	c.2297A>G	c.(2296-2298)tAc>tGc	p.Y766C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	766	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAGTTGCTGTACACCACACT	0.582000													18	48					0	0	1	0	0
DNASE2	1777	broad.mit.edu	37	19	12989582	12989582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12989582G>A	ENST00000222219.3	-	4	505	c.413C>T	c.(412-414)cCg>cTg	p.P138L	DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	138					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAGGAGGCCGGTGGAGGGAA	0.587000													6	28					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101758534	101758534	+	Missense_Mutation	SNP	G	G	A	rs144091204		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101758534G>A	ENST00000360264.3	+	8	708	c.688G>A	c.(688-690)Gat>Aat	p.D230N	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000292535.7_Missense_Mutation_p.D219N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000393824.3_Missense_Mutation_p.D193N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	219					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCAAATACGATGAAGAAAC	0.373000													5	53					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365808	13365808	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:13365808G>A	ENST00000379287.3	-	2	1004	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	114						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCTCATGAGCTTGGGGTAG	0.652000													22	138					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17800327	17800327	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:17800327G>A	ENST00000378814.5	-	21	2471	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	KIF13A_ENST00000378843.2_Silent_p.H824H|KIF13A_ENST00000259711.6_Silent_p.H824H|KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	824					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCACTTCCACGTGGAGACGCC	0.542000													8	36					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150103	34150103	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34150103C>T	ENST00000389232.4	+	99	14200	c.14130C>T	c.(14128-14130)gaC>gaT	p.D4710D	RYR3_ENST00000415757.3_Silent_p.D4705D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4710					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)		TGAAGTGCGACGACATGATGA	0.597000													6	32					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871404	871404	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:871404G>A	ENST00000314167.4	-	16	1965	c.1856_splice	c.e16+1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCACTCACCGCATCTTGTCG	0.652000													5	39					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6959468	6959468	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:6959468G>A	ENST00000389658.3	-	54	7743	c.7650C>T	c.(7648-7650)atC>atT	p.I2550I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2550	Laminin G-like 3.				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)	TGTTGCCTCCGATCAGCATGA	0.478000													9	42					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90502868	90502868	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:90502868G>A	ENST00000325643.5	+	4	3532	c.3466G>A	c.(3466-3468)Gtg>Atg	p.V1156M		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTCCCAGAGTGTGTCTGGTAA	0.632000													12	40					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139487597	139487597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:139487597C>T	ENST00000367658.2	+	2	733	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	150					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGCATCGGCCGCGCGCGCAG	0.617000													22	64					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65147754	65147754	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65147754G>A	ENST00000371073.2	+	26	3551	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1184					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAGGCGCCGCTACTGGGGT	0.498000													5	42					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36057737	36057737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:36057737C>T	ENST00000315571.5	+	2	152	c.131C>T	c.(130-132)cCg>cTg	p.P44L	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	44	LDL-receptor class A 1.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGTGCATCCCGGGCGCCTGG	0.612000													6	97					0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:6688564C>T	ENST00000377627.3	+	2	107	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000307896.6_Missense_Mutation_p.P27L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	27							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597000													3	19					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130059742	130059742	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130059742G>A	ENST00000278742.5	+	5	967	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	183					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCTGCCCCCGCGGGCGCGCT	0.667000													19	82					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3806546	3806546	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3806546T>C	ENST00000361605.3	-	4	808	c.710A>G	c.(709-711)gAc>gGc	p.D237G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	237	Poly-Asp.									endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		atcatcgtcgtcgtcatcatc	0.388000													7	30					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409441	204409441	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204409441G>A	ENST00000367187.3	-	23	3814	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D	PIK3C2B_ENST00000424712.2_Silent_p.D1058D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCGAAGGTCGTCCCCACACT	0.552000													12	74					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65107961	65107961	+	Silent	SNP	C	C	T	rs139698375		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65107961C>T	ENST00000528416.1	+	2	271	c.138C>T	c.(136-138)acC>acT	p.T46T	DPF2_ENST00000252268.4_Silent_p.T46T|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	46					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCACAGACCGGAGTAGCCC	0.562000													17	85					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1256378	1256378	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:1256378C>T	ENST00000447027.1	+	22	2761	c.2703C>T	c.(2701-2703)taC>taT	p.Y901Y	MUC5B_ENST00000529681.1_Silent_p.Y898Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	898	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.Y901Y(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGTGGCCTACGGGGATGGCC	0.652000													8	42					0	0	1	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67951950	67951950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:67951950G>A	ENST00000377477.2	+	9	1025	c.913G>A	c.(913-915)Gtg>Atg	p.V305M		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						CCCCGAGAAAGTGTCAGAGCC	0.343000													16	103					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122261737	122261737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122261737A>G	ENST00000334010.7	-	5	1323	c.902T>C	c.(901-903)aTg>aCg	p.M301T	CADPS2_ENST00000449022.2_Missense_Mutation_p.M301T|CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	301					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATATTCTCCATATCTTTTGC	0.289000													4	15					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796908	210796908	+	Silent	SNP	C	C	T	rs117382486	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:210796908C>T	ENST00000367010.1	+	11	1511	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000545154.1_Silent_p.H429H|HHAT_ENST00000545781.1_Silent_p.H365H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	428					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCGATTCCACGCTGCCCTTG	0.502000													35	184					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77924841	77924841	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:77924841C>G	ENST00000529308.1	+	11	3300	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.F581L|USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000441408.2_Missense_Mutation_p.F599L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1013					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTGGTGACTTCCACAGACTGG	0.592000													5	39					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75199713	75199713	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:75199713G>A	ENST00000413679.2	+	10	1374	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000443798.4_Silent_p.A357A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	357	CRAL-TRIO.				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						TGGTGAGAGCGCTCGGGGAGG	0.602000													4	21					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	130010333	130010333	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130010333C>T	ENST00000263574.5	+	15	1986	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	APLP2_ENST00000528499.1_Silent_p.A570A|APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000543137.1_Silent_p.A533A|APLP2_ENST00000539648.1_Silent_p.A426A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	638					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATCGGTGCCGAAGAGAAAG	0.488000													8	49					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1234615	1234615	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1234615C>T	ENST00000590083.1	-	6	874	c.582G>A	c.(580-582)acG>acA	p.T194T	C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000382477.2_Silent_p.T214T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	214						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTGGGGCGTGGTGGCTG	0.682000										HNSCC(14;0.022)			4	10					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264647	179264647	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179264647G>A	ENST00000292586.6	-	7	866	c.776C>T	c.(775-777)cCa>cTa	p.P259L	C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|C5orf45_ENST00000523267.1_5'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	259										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCCTGTGCTGGACCAGCTGG	0.602000													7	41					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889199	18889199	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:18889199A>T	ENST00000266505.7	-	3	354	c.91T>A	c.(91-93)Tta>Ata	p.L31I	PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L29I|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	31					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CGAATATCTAATTTTTCAAGT	0.353000													6	29					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154557716	154557716	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:154557716G>A	ENST00000368474.4	-	14	3619	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1140	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCTGGTACCGTCCAGGATCT	0.542000													13	95					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198839	118198839	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:118198839G>A	ENST00000425217.1	-	4	930	c.876C>T	c.(874-876)cgC>cgT	p.R292R	KSR2_ENST00000339824.5_Silent_p.R321R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	321	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCGTCCACGCGGTGCCCCA	0.677000													14	63					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224879	49224879	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:49224879G>A	ENST00000371833.3	-	3	524	c.438C>T	c.(436-438)aaC>aaT	p.N146N	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	146										large_intestine(5)|lung(2)|skin(1)	8						GGCTCAGGCCGTTCTGCTTCT	0.612000													4	8					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:225598067C>T	ENST00000338179.2	-	10	1365	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	LBR_ENST00000272163.4_Missense_Mutation_p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	p.A414T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433000													15	75					0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220253160	220253160	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:220253160C>T	ENST00000469520.2	-	3	478	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					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)		GGCTACCAACCGCATCAACAC	0.398000													4	34					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215431	105215431	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:105215431G>A	ENST00000329905.5	-	2	765	c.629C>T	c.(628-630)aCg>aTg	p.T210M	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	210						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCGGCCTGCGTGAAGCAGGG	0.612000													10	34					0	0	1	0	0
PDE7A	5150	broad.mit.edu	37	8	66753717	66753717	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:66753717T>C	ENST00000401827.3	-	1	470	c.27A>G	c.(25-27)gtA>gtG	p.V9V	PDE7A_ENST00000396642.3_Silent_p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	9						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCAGGGGCAGTACCGGCAGCT	0.731000													4	22					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022502	58022502	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022502G>A	ENST00000341156.4	-	8	1580	c.996C>T	c.(994-996)ttC>ttT	p.F332F	B4GALNT1_ENST00000449184.3_Silent_p.F299F|B4GALNT1_ENST00000418555.2_Silent_p.F277F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	332					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACACCTTGCCGAAGGGCATGA	0.617000													7	44					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716527	1716527	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1716527G>A	ENST00000397412.3	+	16	3061	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	988						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTCTTCAGACGAGGTGACGGG	0.582000													4	28					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034367	128034367	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128034367C>T	ENST00000338791.6	-	16	2093	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000354269.5_Silent_p.S571S|IMPDH1_ENST00000470772.1_Silent_p.S495S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000480861.1_Silent_p.S491S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	496					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAATCTGGGCCGACATGGTCC	0.592000													11	36					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64748629	64748629	+	Missense_Mutation	SNP	G	G	A	rs148384415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:64748629G>A	ENST00000536360.1	-	5	1561	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	250	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCACAAACCGTTCAATGCTC	0.418000													16	64					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783876	8783876	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:8783876G>A	ENST00000359865.3	+	6	908	c.766G>A	c.(766-768)Gca>Aca	p.A256T	SOGA2_ENST00000306329.11_Missense_Mutation_p.A616T|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.A256T|SOGA2_ENST00000400050.3_Missense_Mutation_p.A256T	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	607	Pro-rich.							p.A256T(1)									TCGGGACCACGCACCCAGCAT	0.652000													12	96					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682266	47682266	+	Missense_Mutation	SNP	C	C	T	rs145102054		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:47682266C>T	ENST00000283303.2	+	6	1543	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTGTGGTCCCGGGTGGTTGT	0.493000													16	69					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7405400	7405400	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7405400G>A	ENST00000322644.6	+	15	2930	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	844	Bridging helix.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGGGGGTCGTGAGGGGCTC	0.582000													4	23					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62078121	62078121	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:62078121C>T	ENST00000354587.3	-	2	542	c.366G>A	c.(364-366)tcG>tcA	p.S122S	KCNQ2_ENST00000430658.1_Silent_p.S122S|KCNQ2_ENST00000357249.2_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S|KCNQ2_ENST00000370226.1_Silent_p.S122S|KCNQ2_ENST00000359125.2_Silent_p.S122S|KCNQ2_ENST00000370221.1_Silent_p.S122S|KCNQ2_ENST00000370222.3_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S|KCNQ2_ENST00000344462.3_Silent_p.S122S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGCCCCCTCCGAGCTCTTCT	0.632000													6	39					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138707776	138707776	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138707776C>T	ENST00000389532.4	-	15	4411	c.4347G>A	c.(4345-4347)gcG>gcA	p.A1449A	CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000409386.3_Silent_p.A1460A|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCGCCGACGCGGTCTCCC	0.612000													7	79					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130911013	130911013	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:130911013G>A	ENST00000409031.1	-	18	3169	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V|SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	635					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTGAGCTGCGCTTCGCTGAG	0.567000													14	54					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21903985	21903985	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:21903985C>T	ENST00000374840.3	+	12	1669	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000540617.1_Silent_p.G418G|ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000374830.1_Silent_p.G119G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	473			G -> S (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGCTGCACGGCGTCCACGAGC	0.687000													10	63					0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126794853	126794853	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:126794853C>T	ENST00000373615.4	+	5	1827	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	363						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCCTCCAGCACGCCCACCACC	0.657000													8	41					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35471598	35471598	+	Silent	SNP	C	C	T	rs145986072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:35471598C>T	ENST00000229771.6	-	12	1219	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	TULP1_ENST00000322263.4_Silent_p.T327T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	380					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCAAAGACCGTGAAGCGGT	0.612000													5	15					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144696973	144696973	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144696973G>T	ENST00000425753.2	-	4	477	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	125					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.P125L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTCATCTATCGGGTAGGTCGT	0.657000													8	65					3.07112e-06	3.10961e-06	1	1	0
LRRC29	26231	broad.mit.edu	37	16	67241597	67241597	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67241597C>T	ENST00000409037.1	-	4	1479	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T|LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	195										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGTCTGACGGCGGCCATGTTG	0.647000													7	48					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49161296	49161296	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49161296G>A	ENST00000418109.1	-	25	3826	c.3662C>T	c.(3661-3663)aCg>aTg	p.T1221M	LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1221	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCACACCCGTCTGTTGCAA	0.632000													11	66					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74328942C>T	ENST00000409262.3	+	9	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1541							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACGCCACCACGCCGCTTAAG	0.662000													10	47					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455002	26455002	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:26455002C>T	ENST00000265944.5	+	27	3172	c.3006C>T	c.(3004-3006)taC>taT	p.Y1002Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1002	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGGTACTACCTTCTCTGCT	0.502000													28	136					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66852502	66852502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66852502G>A	ENST00000379463.2	-	9	724	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*|NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000290810.3_Nonsense_Mutation_p.R184*	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	184					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTATCTAGTCGTAGATCCTCT	0.328000													3	20					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396266	34396266	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34396266G>A	ENST00000397766.2	+	1	1993	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	512										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCTTGCTCCGATGATGTCAC	0.488000													4	29					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161039354	161039354	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:161039354C>T	ENST00000368013.3	-	1	381	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	21	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCTGCAAGTCGCACCCAAAA	0.637000													19	73					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6292992	6292992	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6292992C>T	ENST00000226760.1	+	5	699	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	177					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAGGGCCGTGCGCAAGGCAGC	0.612000													13	55					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714575	138714575	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138714575G>A	ENST00000389532.4	-	11	1996	c.1932C>T	c.(1930-1932)cgC>cgT	p.R644R	CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000409386.3_Silent_p.R655R|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	644						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTCAAGTCGCGACTGCCAG	0.587000													11	39					0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132403474	132403474	+	Missense_Mutation	SNP	C	C	T	rs138630766		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:132403474C>T	ENST00000337331.5	-	24	3580	c.3494G>A	c.(3493-3495)cGg>cAg	p.R1165Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCACGTCTCCGAATATCTAA	0.388000													3	29					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273484	2273484	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2273484C>T	ENST00000290974.2	-	11	2685	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	782					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCAAGGCCGCACTCCGCA	0.627000													29	139					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534702	16534702	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16534702T>C	ENST00000270747.3	-	3	567	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.Y144C	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	144					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGCTGGTACACCCGCAT	0.682000													6	36					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801068	67801068	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:67801068G>A	ENST00000544246.1	-	2	2196	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A502V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	502	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGTCTGCATTTTTCCC	0.423000													10	59					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67588988	67588988	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:67588988C>T	ENST00000521381.1	+	9	1695	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	360	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTACGAGATGCGTCTACTAAA	0.368000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			3	24					0	0	1	0	0
RP11-909M7.3	0	broad.mit.edu	37	14	101447365	101447365	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:101447365C>T	ENST00000554693.2	+	0	635				SNORD114-20_ENST00000365178.1_RNA																							CTACTGGTGGCGTATGAGTCA	0.388000													15	97					0	0	1	0	0
PCDHGA7	0	broad.mit.edu	37	5	140764615	140764615	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140764615C>T	ENST00000518325.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_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)			GCTCAGGCTGCGGCGCTGGCA	0.617000													7	46					0	0	1	0	0
ABHD17A	81926	broad.mit.edu	37	19	1880951	1880951	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1880951G>A	ENST00000250974.9	-	3	748	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ABHD17A_ENST00000292577.7_Intron|ABHD17A_ENST00000590661.1_Intron	NM_031213.3	NP_112490.3			abhydrolase domain containing 17A																		CCCAGCTCTTGCCCAGCAGGC	0.662000													5	35					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42915659	42915659	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42915659C>T	ENST00000372565.3	-	2	451	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ZMYND12_ENST00000433602.2_Silent_p.A8A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	61						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGAAGTGCGCAGTGGAAT	0.517000													10	52					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909565	23909565	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23909565G>A	ENST00000382298.3	-	10	9038	c.8450C>T	c.(8449-8451)aCg>aTg	p.T2817M	SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382292.3_Missense_Mutation_p.T2817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2817					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTAGCCACGTAGTAAGATT	0.358000													5	39					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88277682	88277682	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88277682G>A	ENST00000298767.5	-	2	617	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	49	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGAAATTGGGCCTCTTCTGC	0.403000													6	31					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52567427	52567427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52567427G>A	ENST00000313234.5	-	5	885	c.788C>T	c.(787-789)gCg>gTg	p.A263V	KRT80_ENST00000394815.2_Missense_Mutation_p.A263V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	263	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGAGCCGCGACGGCGTC	0.657000													19	89					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43708462	43708462	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:43708462C>T	ENST00000263801.3	-	22	5071	c.4819G>A	c.(4819-4821)Gca>Aca	p.A1607T	TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1607					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTTACTGCTTCATAGGGG	0.478000								Other conserved DNA damage response genes					10	57					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148886179	148886179	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:148886179C>T	ENST00000336498.3	+	17	1694	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ARHGAP10_ENST00000414545.2_Silent_p.S134S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	485	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		tGGAAGAAAGCGGCAGCCCAG	0.308000													4	14					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133909950	133909950	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:133909950G>A	ENST00000220616.4	+	12	3098	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T	TG_ENST00000377869.1_Missense_Mutation_p.A1020T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1020	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGAGCATCCGCCCTTCTGCG	0.587000													20	78					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829811	72829811	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72829811A>G	ENST00000268489.5	-	9	7442	c.6770T>C	c.(6769-6771)tTa>tCa	p.L2257S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2257					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTCCTGTAAGACCCTCAG	0.493000													19	109					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774068	41774068	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:41774068G>A	ENST00000394253.3	-	3	983	c.654C>T	c.(652-654)gaC>gaT	p.D218D	USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771000													3	20					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233710483	233710483	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233710483A>T	ENST00000373566.3	+	27	3610	c.3413A>T	c.(3412-3414)gAa>gTa	p.E1138V	GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1116					cell death		protein binding	p.E1116V(2)|p.E1137V(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGAAAGTAGAAGAAGAAGAA	0.378000													4	46					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577000													23	129					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48801323A>G	ENST00000315396.7	-	12	2007	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	442										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692000													15	57					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:36927225G>A	ENST00000310758.4	-	18	2301	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C|ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	552					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R552S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGTTCAGGCGTTGCTGTTTG	0.473000													6	46					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026305	129026305	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:129026305G>A	ENST00000259241.6	-	2	680	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	223					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGTAGCAGGGCGGCAGCTCC	0.657000													19	94					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90754822	90754822	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:90754822G>A	ENST00000354366.3	-	11	3129	c.2897C>T	c.(2896-2898)aCg>aTg	p.T966M	NRDE2_ENST00000357904.3_Missense_Mutation_p.T735M	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CAGCAGGCTCGTGTGCATCAG	0.537000													8	51					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006673	145006673	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145006673G>A	ENST00000322810.4	-	16	2452	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000354958.2_Silent_p.A602A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000527096.1_Silent_p.A647A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	761	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTAGTGGCGGCTGCCACAA	0.622000													17	70					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237395	30237395	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:30237395A>G	ENST00000378988.4	+	2	799	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	233	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGGAGTCTATGATGGAGAG	0.483000													3	9					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170918	100170918	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:100170918G>A	ENST00000317233.4	-	23	3649	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N	AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000409579.1_Silent_p.N1163N|AFF3_ENST00000409236.1_Silent_p.N1138N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1138					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCGCTGGCGTTGGAGAGGC	0.637000													7	50					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143702	56143702	+	Silent	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56143702C>A	ENST00000302270.1	+	1	603	c.603C>A	c.(601-603)gcC>gcA	p.A201A		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GGATCTTTGCCTGTGCTGGTA	0.458000													13	74					7.93312e-07	8.06626e-07	1	1	0
RAI1	10743	broad.mit.edu	37	17	17699169	17699169	+	Silent	SNP	C	C	T	rs141757356	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:17699169C>T	ENST00000353383.1	+	3	3376	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	RAI1_ENST00000261641.6_Silent_p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	969						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACCTCGGACGCCTCTCTGG	0.622000													9	35					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487117	228487117	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:228487117C>T	ENST00000570156.2	+	50	13442	c.13368C>T	c.(13366-13368)gaC>gaT	p.D4456D	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Silent_p.D1146D|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3499	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGACAAGACGGGGCTGTGT	0.567000													18	80					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24545427	24545427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24545427C>T	ENST00000397016.2	+	12	1305	c.994C>T	c.(994-996)Cga>Tga	p.R332*	CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*|CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*			O95741	CPNE6_HUMAN	copine VI (neuronal)	332	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCAGTCCCCGACAGCCCAA	0.647000													11	32					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433000													27	139					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755234	76755234	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:76755234C>T	ENST00000536229.3	+	2	3337	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P	SALL3_ENST00000575389.2_Silent_p.P1009P|SALL3_ENST00000537592.2_Silent_p.P1081P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCGCTGCCCGCGGGCGTCC	0.711000													6	20					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136509362	136509362	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136509362C>T	ENST00000393056.2	+	5	956	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	315					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCAGAGGAAGCCGGCCTTGCC	0.602000													10	83					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213981	179213981	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179213981C>T	ENST00000190611.4	+	12	1394	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	340					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCACCAGTTCGCTTGCATTC	0.423000													32	146					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347370	222347370	+	Silent	SNP	G	G	A	rs147516232	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:222347370G>A	ENST00000281821.2	-	5	1061	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409854.1_Silent_p.N340N|EPHA4_ENST00000409938.1_Silent_p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	340	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGATGTCTCGTTGACATTTG	0.463000													8	66					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134518638	134518638	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:134518638C>T	ENST00000372195.1	-	4	725	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R144Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	144					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCTGAATTCGAGGATCGTT	0.507000													3	17					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:101528929C>T	ENST00000284395.5	+	6	915	c.515C>T	c.(514-516)aCg>aTg	p.T172M	LRRK1_ENST00000388948.3_Missense_Mutation_p.T175M|LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632000													15	67					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38557133	38557133	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38557133C>T	ENST00000423485.1	-	21	2791	c.2633G>A	c.(2632-2634)cGt>cAt	p.R878H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	878					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCCATCAAACGCCTGATGTT	0.408000													34	154					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944144	144944144	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144944144G>A	ENST00000525985.1	-	2	3349	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M				P58107	EPIPL_HUMAN	epiplakin 1	1093						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATAGCTCGTGCGCCCCTG	0.637000													6	21					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915194	915194	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:915194G>A	ENST00000544583.2	-	19	2454	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W|ABR_ENST00000302538.5_Missense_Mutation_p.R665W|ABR_ENST00000291107.2_Missense_Mutation_p.R628W	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	665					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACACACTGCCGGACGATGTAG	0.652000													12	87					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90400389	90400389	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:90400389C>T	ENST00000337338.5	+	3	2169	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	588						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCGAGAGTTGCGGCACCTTAA	0.398000													5	41					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76510888	76510888	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76510888G>A	ENST00000389840.5	-	26	4193	c.4069C>T	c.(4069-4071)Cgc>Tgc	p.R1357C	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1358C					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCAGTGGCGTTCCCGAATG	0.652000													11	37					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587185	110587185	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:110587185C>T	ENST00000399066.3	-	6	2660	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	SYBU_ENST00000424158.2_Missense_Mutation_p.V653M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000422135.1_Missense_Mutation_p.V648M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	648						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.V645M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGGGCAACCACGCAACAGCCC	0.577000													21	82					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:48200920G>A	ENST00000302506.3	-	14	1756	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	450	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512000													11	57					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54886368	54886368	+	Silent	SNP	G	G	A	rs150684675		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:54886368G>A	ENST00000333896.5	+	30	6667	c.6282G>A	c.(6280-6282)acG>acA	p.T2094T	SPTBN1_ENST00000356805.4_Silent_p.T2107T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2107					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCGAGCACGAAGGTTTCAG	0.567000													27	154					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704657	12704657	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:12704657C>T	ENST00000376221.1	+	1	92	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	31						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCCTCACCACGGATATCCCT	0.527000													19	107					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114504726	114504726	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:114504726G>A	ENST00000375353.3	+	7	637	c.610G>A	c.(610-612)Gtc>Atc	p.V204I		NM_182614.2	NP_872420.1			transmembrane protein 255B																		AGTTCTGAACGTCCTGGGCCT	0.672000													8	23					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537000													9	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152674405	152674405	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152674405G>A	ENST00000367255.5	-	69	11847	c.11246C>T	c.(11245-11247)aCg>aTg	p.T3749M	SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3749					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTCCAACGTCTTCAATTT	0.423000										HNSCC(10;0.0054)			27	137					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24442304	24442304	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:24442304T>C	ENST00000383168.4	-	2	417	c.289A>G	c.(289-291)Aac>Gac	p.N97D	AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	97					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ACTGCAGGGTTGATGTGGCCA	0.552000													19	72					0	0	1	0	0
PSRC1	84722	broad.mit.edu	37	1	109823608	109823608	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:109823608C>T	ENST00000438534.2	-	5	923	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCGGGGCAGGCGTTGAGAGTT	0.637000													17	48					0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574746	52574746	+	Splice_Site	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52574746A>G	ENST00000313234.5	-	3	608	c.509_splice	c.e3-1	p.Y171_splice	KRT80_ENST00000394815.2_Splice_Site_p.Y171_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	171	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCATCCTCATACCTGGGAGGG	0.602000													9	33					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438670	6438670	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6438670G>A	ENST00000162749.2	-	10	1475	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	TNFRSF1A_ENST00000540022.1_Silent_p.N349N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	392	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCAGCGCCCGTTCTGCAGCT	0.701000													5	16					0	0	1	0	0
NR2C2AP	126382	broad.mit.edu	37	19	19312306	19312306	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19312306G>T	ENST00000420605.2	-	6	777	c.481C>A	c.(481-483)Ccc>Acc	p.P161T	RFXANK_ENST00000392324.4_Intron|RFXANK_ENST00000456252.3_Intron|RFXANK_ENST00000303088.4_Intron|NR2C2AP_ENST00000331552.6_3'UTR|RFXANK_ENST00000407360.3_Intron|RFXANK_ENST00000353145.1_Intron|NR2C2AP_ENST00000590907.2_Silent_p.T42T			Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	0					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AGGTTCCTGGGGTGAGTCCTC	0.458000													5	10					0.184627	0.185137	1	1	0
ANK3	288	broad.mit.edu	37	10	61819478	61819478	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:61819478G>A	ENST00000373827.2	-	40	5195	c.5025C>T	c.(5023-5025)agC>agT	p.S1675S	ANK3_ENST00000355288.2_Silent_p.S815S|ANK3_ENST00000503366.1_Silent_p.S1682S|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3753	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCCAACTGGCTCTCATCTA	0.458000													11	101					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139289316	139289316	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139289316G>A	ENST00000298532.2	-	5	854	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	162					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGTGTCCTCGTTGGCAGGTG	0.632000													4	36					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	rs147652902		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493000													8	87					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815315	40815315	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:40815315C>T	ENST00000396617.3	-	12	1717	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MKL1_ENST00000355630.3_Missense_Mutation_p.R376H|MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000407029.1_Missense_Mutation_p.R376H			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTCGAAGGCGCTCAATCAG	0.607000			T	RBM15	acute megakaryocytic leukemia								4	32					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65303716	65303716	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65303716A>G	ENST00000342505.4	-	22	3287	c.3039T>C	c.(3037-3039)agT>agC	p.S1013S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1013	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTGGTGTTCACTCTCAACAA	0.458000			Mis		ALL								4	25					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27310662	27310662	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:27310662G>A	ENST00000397501.1	+	33	3388	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000338238.4_Silent_p.P818P|PTK2B_ENST00000517339.1_Silent_p.P818P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	860	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGAAGCCCCCGAGGCTGGGCG	0.522000													8	49					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353000									Kartagener syndrome				7	33					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727927	137727927	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:137727927G>A	ENST00000314358.5	+	8	2806	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	869					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCCAAGGGCCGGCCTCGGACT	0.607000													8	52					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71216681	71216681	+	Silent	SNP	C	C	T	rs138594750	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:71216681C>T	ENST00000554752.2	-	4	1118	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	MAP3K9_ENST00000554146.1_Silent_p.T110T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000553414.1_Silent_p.T67T|MAP3K9_ENST00000381250.4_Silent_p.T373T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	373	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCTGGGCACGTAGAAGGAA	0.517000													11	50					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141727771	141727771	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:141727771G>A	ENST00000522684.1	-	23	2297	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	690					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTCATGCGCTCTTCTTGC	0.552000													21	93					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224018	11224018	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:11224018C>T	ENST00000558518.1	+	9	1438	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000558013.1_Silent_p.S417S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000557933.1_Silent_p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	417					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGACCGGAGCGAGTACACCA	0.612000													7	36					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636372	73636372	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:73636372T>C	ENST00000377687.4	+	2	1171	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	212					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)		AAACAAGAACTTCCTACACCA	0.512000													8	43					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156825203	156825203	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:156825203C>T	ENST00000536354.2	+	2	133	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	23					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TAGAAGGCAGCGAAGAAGACA	0.393000													4	30					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634892	79634892	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79634892C>T	ENST00000376708.1	+	1	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	108					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCGTCGCAAGCGCTTCAAGGT	0.692000													11	44					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43221327C>T	ENST00000259750.4	+	5	435	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	118	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGACCTGCGCCGTAGCCA	0.627000													10	30					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580623	15580623	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15580623G>A	ENST00000292609.4	-	4	1590	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	PGLYRP2_ENST00000340880.4_Silent_p.T487T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	487					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCGCCGCGGTGTAGTTGC	0.731000													3	5					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150297487	150297487	+	Translation_Start_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:150297487G>A	ENST00000543398.1	+	0	175				PRPF3_ENST00000414970.2_Silent_p.T29T|PRPF3_ENST00000324862.6_Silent_p.T29T			O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCCTACGGTGGTCACAG	0.478000													17	64					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103297267	103297267	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103297267G>A	ENST00000376052.3	+	19	2317	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	TPP2_ENST00000376065.4_Silent_p.S767S			P29144	TPP2_HUMAN	tripeptidyl peptidase II	767					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.S767S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCATGCATCGGAAGGAATCA	0.353000													5	34					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6925365	6925365	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6925365G>A	ENST00000409757.4	+	2	373	c.249G>A	c.(247-249)gcG>gcA	p.A83A	TBC1D14_ENST00000448507.1_Silent_p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	83						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCAGCGCGGTCCACGTGA	0.652000													19	79					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005830	20005830	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20005830G>A	ENST00000289753.1	+	3	1759	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	431					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCGAGCTGCGGCCGCATCCA	0.682000													3	12					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422261	124422261	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422261C>T	ENST00000545135.1	-	3	3585	c.289G>A	c.(289-291)Gcg>Acg	p.A97T	CCDC92_ENST00000238156.3_Missense_Mutation_p.A114T|CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	114										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGATCATCGCGTTTTTCTGC	0.468000													22	145					0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103343363	103343363	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:103343363G>A	ENST00000370162.3	-	6	1461	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000370169.1_Missense_Mutation_p.R323W|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|POLL_ENST00000299206.4_Missense_Mutation_p.R323W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	323					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTTCCGCAAATGCCCG	0.562000								DNA polymerases (catalytic subunits)					15	50					0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:58005261C>T	ENST00000424930.2	+	5	1568	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000221735.7_Nonsense_Mutation_p.R446*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R421*(1)|p.R414*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATGCAACATCGAAAAGTTCA	0.433000													16	91					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18976421	18976421	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:18976421G>A	ENST00000262803.5	+	22	3343	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	UPF1_ENST00000599848.1_Missense_Mutation_p.R1035H	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1035					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGAAGAACCGCTTTGGGCTT	0.652000													24	143					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													13	103					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56658551	56658551	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:56658551T>C	ENST00000431842.2	-	16	4052	c.3128A>G	c.(3127-3129)aAc>aGc	p.N1043S	FAM208A_ENST00000355628.5_Missense_Mutation_p.N1419S|FAM208A_ENST00000485156.1_5'UTR|FAM208A_ENST00000493960.2_Missense_Mutation_p.N1480S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1480										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CTGTGGAAGGTTTTCTTCTGT	0.378000													10	67					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69177376	69177376	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69177376G>A	ENST00000481498.1	-	3	104	c.86C>T	c.(85-87)cCa>cTa	p.P29L	GKN2_ENST00000328895.4_Missense_Mutation_p.P29L			Q86XP6	GKN2_HUMAN	gastrokine 2	29						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ATTGTTGCTTGGGCTGATGAT	0.353000													7	22					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229797	39229797	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:39229797G>A	ENST00000340369.3	-	2	1368	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.S380S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	380							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACAGGGTGGAGCGGACAT	0.592000													27	165					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23720487	23720487	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23720487C>T	ENST00000450454.2	-	8	810	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	235	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACGCGGTTCCGGTACTTCAT	0.627000													6	42					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26359747	26359747	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:26359747A>G	ENST00000374280.3	+	8	2326	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	487					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATATAGCACCATCAGAAC	0.567000													5	51					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748503	43748503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43748503C>T	ENST00000425836.2	+	6	997	c.997C>T	c.(997-999)Cga>Tga	p.R333*	VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000324450.6_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	153					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGGGCAAAAACGAAAGCGCAA	0.532000													11	72					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895240	45895240	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45895240C>A	ENST00000418234.2	-	8	1791	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	571	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCAGATCCCTCAGTGATGG	0.692000													10	48					4.68919e-08	4.78798e-08	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234846109	234846109	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234846109G>A	ENST00000324695.4	+	4	344	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	102						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTACCGACGCCTTTGGGGA	0.478000													8	111					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116984538	116984538	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:116984538C>T	ENST00000356083.3	+	14	2848	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	819	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGAGTCCCCGGCCTCATTG	0.637000													25	74					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000367121.3_Silent_p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562000													27	169					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101840561	101840561	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101840561C>T	ENST00000360264.3	+	15	1923	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R624C|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGGCCCTCCGTAGCATCCA	0.572000													10	51					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190173	233190173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:233190173G>A	ENST00000258229.8	-	25	4426	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1398						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGACTCCTGGAGGGTCCTT	0.438000													5	30					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215231	84215231	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84215231G>A	ENST00000567759.1	-	9	1255	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	358					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGGCTCCCGAGCGGCTGCA	0.657000													9	24					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224121	50224121	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:50224121C>T	ENST00000002829.3	+	18	2373	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	630	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGCCCCGCTCGCCCCAAGCC	0.622000													5	31					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700463	41700463	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41700463C>T	ENST00000310054.4	+	2	408	c.192C>T	c.(190-192)taC>taT	p.Y64Y	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTAAGAAGTACGGACCGGTGT	0.617000													7	44					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64637512	64637512	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:64637512G>A	ENST00000413366.3	+	4	354	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	110					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CCACACTTACGGAAGCCCCAC	0.438000													18	105					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303248	53303248	+	Missense_Mutation	SNP	C	C	T	rs139889621	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:53303248C>T	ENST00000438150.2	-	2	2584	c.1691G>A	c.(1690-1692)cGt>cAt	p.R564H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R617H			P17035	ZNF28_HUMAN	zinc finger protein 28	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGTCTGACGGAAGGTCTT	0.463000													21	137					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391305	49391305	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49391305C>T	ENST00000421952.2	-	2	1375	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	452	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATGACAAAGACGCCTTCCCCA	0.642000													16	94					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897158	51897158	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:51897158G>A	ENST00000333127.3	+	3	296	c.267G>A	c.(265-267)cgG>cgA	p.R89R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	89										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGAAACGGCAGGCAGCTC	0.612000													8	42					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5755633	5755633	+	Silent	SNP	G	G	A	rs112861104	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:5755633G>A	ENST00000382674.2	+	10	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_ENST00000509451.1_Silent_p.P479P|EVC_ENST00000264956.6_Silent_p.P479P			P57679	EVC_HUMAN	Ellis van Creveld syndrome	479					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGCCCAGCCGACTGCTGACC	0.602000													8	39					0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140866040	140866040	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:140866040C>T	ENST00000310546.2	+	3	1495	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617000													7	29					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513671	61513671	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61513671C>T	ENST00000266070.4	-	16	3962	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1213					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGCTTTTCGTCCATCTTG	0.493000													21	73					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56487295	56487295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56487295C>T	ENST00000267101.3	+	12	1881	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	481					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)			TACGGAAGAGCGACTAGACAT	0.547000													9	63					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30625115	30625115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:30625115G>T	ENST00000269051.4	+	6	687	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*|RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	225					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGGATAGAACACCTGGG	0.522000													12	80					7.03913e-09	7.20767e-09	1	1	0
C12orf63	0	broad.mit.edu	37	12	97078469	97078469	+	Silent	SNP	G	G	A	rs149195544		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:97078469G>A	ENST00000524981.3	+	8	1113	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A				Q6ZTY8	CL063_HUMAN		345								p.A345A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGTTCAGGCGTTGCATTCAC	0.323000													10	46					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31723224	31723224	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:31723224C>T	ENST00000266269.5	-	5	2346	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	573					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCTTCAGGTCGCTGGCATCT	0.498000													12	51					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134981778	134981778	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:134981778G>A	ENST00000304613.3	+	3	343	c.322G>A	c.(322-324)Gtt>Att	p.V108I	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	108	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGTGCCTTCGTTCCCCCCGA	0.592000													9	147					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005552	1005552	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1005552G>A	ENST00000234389.3	+	3	2071	c.2052_splice	c.e3+1	p.K684_splice		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	684					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGACCCCAAGGTGGGCGGCC	0.701000													5	17					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140552513	140552513	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140552513T>C	ENST00000231137.3	+	1	271	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCTTCGGTATTTTGTGGC	0.517000													11	42					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168460	49168460	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49168460G>A	ENST00000418109.1	-	8	1002	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	280	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGCCACGTACAACCAGC	0.592000													16	65					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3856144	3856144	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:3856144G>A	ENST00000324333.10	-	8	2066	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	625					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGAACTCTCCGGGGGCTGATG	0.463000													6	22					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68675744	68675744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:68675744C>T	ENST00000255078.3	+	3	499	c.388C>T	c.(388-390)Cga>Tga	p.R130*	IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	130					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)			GAGCTTGGACCGAGAGAATTC	0.507000													13	74					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	rs76918558		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532000													4	18					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1743283	1743283	+	Silent	SNP	C	C	T	rs151095769	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1743283C>T	ENST00000381241.3	+	3	565	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_ENST00000381233.3_Silent_p.D122D|ASMT_ENST00000381229.4_Silent_p.D122D	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	122					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGGCAGACGCCGTGAGGT	0.672000													10	56					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2105390	2105390	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:2105390G>T	ENST00000400921.2	+	11	1474	c.791G>T	c.(790-792)gGg>gTg	p.G264V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	447	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ATGATGGCCGGGCGCTCCCCG	0.627000											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	91					5.35356e-11	5.505e-11	1	1	0
NT5C2	22978	broad.mit.edu	37	10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:104859733G>A	ENST00000343289.5	-	8	670	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	NT5C2_ENST00000404739.3_Missense_Mutation_p.R195W|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AACATACTCCGGTAGGACATG	0.393000													10	87					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169629715	169629715	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:169629715G>A	ENST00000366787.3	-	15	2460	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	737					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGGCATCGCCAATCCCGT	0.527000													16	83					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288118	61288118	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61288118C>T	ENST00000217159.1	+	2	517	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SLCO4A1_ENST00000370507.1_Silent_p.G104G	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	104					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGCCCAAGGGCATCCTGTTCT	0.647000													3	17					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39623467	39623467	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:39623467C>T	ENST00000330149.5	-	4	525	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	100					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		AGTAAGCAGGCGAAATTTGTT	0.333000													4	11					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171788	34171788	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:34171788T>C	ENST00000588240.1	+	15	1600	c.1485T>C	c.(1483-1485)ggT>ggC	p.G495G	TAF15_ENST00000311979.3_Silent_p.G492G|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	495	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gaggctatggtggagaccgag	0.602000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								4	19					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420167	70420167	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70420167G>A	ENST00000381280.4	+	3	549	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	99	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCCTGGAGCGGGCTCAAGCC	0.562000													30	99					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22172692	22172692	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:22172692G>A	ENST00000374695.3	-	64	8452	c.8373C>T	c.(8371-8373)taC>taT	p.Y2791Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2791	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGGCACACGTATTCACCCG	0.652000													9	45					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468529	66468529	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66468529C>T	ENST00000533211.1	-	17	3372	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1014					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCGCCCACCCGGGCGGCGAT	0.701000													9	53					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392306	74392306	+	Silent	SNP	G	G	A	rs139988070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:74392306G>A	ENST00000319380.7	-	14	2776	c.2712C>T	c.(2710-2712)agC>agT	p.S904S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	904							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGGGTTTCGCTGGGCCACT	0.627000													15	80					0	0	1	0	0
FOXD2	2306	broad.mit.edu	37	1	47904283	47904283	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47904283G>A	ENST00000334793.5	+	1	2595	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	159					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TTCATCAGCGGCCGCTTCCCC	0.617000													24	85					0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47808995T>C	ENST00000285106.6	-	15	2653	c.1939A>G	c.(1939-1941)Act>Gct	p.T647A	CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|CXXC1_ENST00000589940.1_3'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	647					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCGGTAGTGAGGGGATCG	0.662000													17	103					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226551700	226551700	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:226551700C>T	ENST00000366794.5	-	20	2873	c.2730G>A	c.(2728-2730)acG>acA	p.T910T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	910	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.T910T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCCCTGAGACGTATGGCAGT	0.498000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	49					0	0	1	0	0
ZNF398	0	broad.mit.edu	37	7	148875783	148875783	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:148875783G>A	ENST00000420008.2	+	6	1094	c.306G>A	c.(304-306)tcG>tcA	p.S102S	ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000475153.1_Silent_p.S273S|ZNF398_ENST00000540950.1_Silent_p.S278S|ZNF398_ENST00000426851.2_Silent_p.S102S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTAGATCCTCGTTGTGCCCTG	0.463000													21	140					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408141	130408141	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:130408141C>T	ENST00000370904.1	-	25	4674	c.3764G>A	c.(3763-3765)cGa>cAa	p.R1255Q	IGSF1_ENST00000361420.3_Missense_Mutation_p.R1264Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1264					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGCTACTTCGGACAATGTT	0.517000													23	64					0	0	1	0	0
PHF15	0	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:133896555G>A	ENST00000395003.1	+	6	771	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000282605.4_Missense_Mutation_p.E198K|PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		198					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592000													11	53					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103504506	103504506	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103504506C>T	ENST00000355739.4	+	2	1550	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAGGAGTCCGGGATCGCCA	0.378000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	26					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620207	28620207	+	Translation_Start_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:28620207G>A	ENST00000569554.1	-	0	34				SULT1A1_ENST00000314752.7_Intron|SULT1A1_ENST00000395607.1_Intron|SULT1A1_ENST00000395609.1_Intron|SULT1A1_ENST00000350842.4_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGCCAGGCCCGTTCCCTTACC	0.582000													8	73					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390836	100390836	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:100390836G>A	ENST00000281806.2	-	4	890	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MCHR2_ENST00000445970.1_Silent_p.D192D|MCHR2_ENST00000369212.1_Silent_p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413000													6	58					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	40					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	rs141213799		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89453092G>A	ENST00000539437.1	-	3	248	c.112C>T	c.(112-114)Cga>Tga	p.R38*	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.R46*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	46	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532000													15	104					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095820	51095820	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:51095820C>A	ENST00000395542.2	-	12	3403	c.3219G>T	c.(3217-3219)caG>caT	p.Q1073H	COBL_ENST00000265136.7_Missense_Mutation_p.Q991H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	991										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCACAGCTCTGTCCCACAG	0.552000													10	50					1.08611e-07	1.10743e-07	1	1	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115008	27115008	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:27115008T>C	ENST00000377459.1	+	1	148	c.101T>C	c.(100-102)cTg>cCg	p.L34P		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	34					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L34R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652000													9	48					0	0	1	0	0
ENTHD2	146705	broad.mit.edu	37	17	79207242	79207242	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:79207242G>A	ENST00000374769.2	-	7	537	c.60C>T	c.(58-60)caC>caT	p.H20H	ENTHD2_ENST00000300714.3_Silent_p.H172H|AC027601.1_ENST00000575922.1_RNA					ENTH domain containing 2																		CCGTGCGGCCGTGTTCCTTGC	0.682000													3	24					0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583505	145583505	+	Missense_Mutation	SNP	C	C	A	rs117500243	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145583505C>A	ENST00000532887.1	+	3	936	c.353C>A	c.(352-354)gCc>gAc	p.A118D	SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	118						integral to plasma membrane	receptor activity|riboflavin transporter activity										TTAGCACTGGCCTTTGTGCTG	0.592000													6	90					0.00116845	0.00117654	1	1	0
RTKN	6242	broad.mit.edu	37	2	74655813	74655813	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74655813G>A	ENST00000305557.5	-	9	1448	c.863C>T	c.(862-864)gCa>gTa	p.A288V	RTKN_ENST00000233330.6_Missense_Mutation_p.A251V|RTKN_ENST00000272430.5_Missense_Mutation_p.A301V	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	301					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGAGCTGCCAGACGGCA	0.627000													3	24					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256285	63256285	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:63256285C>T	ENST00000323865.3	-	1	1495	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	421					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCATCACTGGCGGCAGAACTT	0.483000													31	142					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329944	51329944	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51329944T>C	ENST00000326856.4	-	5	677	c.548A>G	c.(547-549)tAc>tGc	p.Y183C	KLK15_ENST00000596931.1_Intron|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.Y184C|KLK15_ENST00000416184.1_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	184	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGCCCTGGGTAGCTCTTGTC	0.567000													19	79					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489181	237489181	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:237489181G>A	ENST00000272928.3	+	2	383	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAACAGCAGCGACTGCATCGT	0.522000													8	32					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105740	156105740	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156105740C>T	ENST00000368300.4	+	6	1197	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000347559.2_Missense_Mutation_p.R329C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	329	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTCACTGGCCCGTGAGCGGGA	0.657000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				9	32					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302558	38302558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38302558G>A	ENST00000399120.1	-	6	2402	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	391					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CACCTCCGCAGCTGACAGCAA	0.498000													8	51					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834854	61834854	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61834854C>T	ENST00000370339.3	-	4	779	c.438G>A	c.(436-438)gcG>gcA	p.A146A	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.A96A	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCTCCCATACGCGGAGCTCT	0.592000													4	35					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095639	145095639	+	Missense_Mutation	SNP	G	G	A	rs140635744		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145095639G>A	ENST00000377470.3	+	3	1039	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	313										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAGTGCCGCCCAGGAACA	0.672000													6	38					0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137191048	137191048	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:137191048G>A	ENST00000541292.1	+	7	740	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PEX7_ENST00000318471.4_Silent_p.A218A			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218			A -> V (in RCDP1).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.A218A(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403000													28	158					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170987609	170987609	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:170987609T>C	ENST00000337664.4	-	10	1259	c.983A>G	c.(982-984)aAc>aGc	p.N328S	AADAT_ENST00000515480.1_Missense_Mutation_p.N328S|AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000353187.2_Missense_Mutation_p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	328					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCCTTCTGGTTACTATAGAA	0.403000													9	29					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153920995	153920995	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:153920995G>T	ENST00000368633.1	-	13	1927	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592000													6	50					0.00198382	0.00199479	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	C	T	rs139469074		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia				18	70					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	521					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488000													8	54					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526076	176526076	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:176526076G>A	ENST00000367662.3	+	2	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_ENST00000367661.3_Silent_p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	206					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567000													23	101					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43481010	43481010	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:43481010C>T	ENST00000282041.5	-	26	4631	c.4597G>A	c.(4597-4599)Gcc>Acc	p.A1533T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1533					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGCTGGGTGGCGTCCTTCTGA	0.567000													5	45					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460505	149460505	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149460505G>A	ENST00000286301.3	-	3	423	c.132C>T	c.(130-132)ggC>ggT	p.G44G	CSF1R_ENST00000543093.1_Silent_p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	44	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTGCCATTGCCCACACATC	0.592000													8	46					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890427	51890427	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51890427G>A	ENST00000221973.3	-	2	313	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622000													4	15					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:162729671G>A	ENST00000367922.2	+	9	1195	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	253					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGTGTGGCCCGGCTATGACTA	0.527000													18	56					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57243663	57243663	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:57243663T>C	ENST00000335099.3	+	3	859	c.542T>C	c.(541-543)cTg>cCg	p.L181P		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	181					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGCCAACCTGAGCCACCTC	0.667000													31	115					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:56459552G>A	ENST00000291971.3	+	1	355	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCTGGACGACGCGCTTGG	0.507000													6	38					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805423	1805423	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1805423C>T	ENST00000440486.2	+	8	1191	c.935C>T	c.(934-936)gCg>gTg	p.A312V	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A312V|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	312	Ig-like C2-type 3.				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			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)	TTGTAGACGGCGGGCGCTAAC	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	23					0	0	1	0	0
RAB17	64284	broad.mit.edu	37	2	238494711	238494711	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:238494711G>A	ENST00000264601.3	-	2	716	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	29					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		ACTTACCCACGGAGCCACTTC	0.602000													16	57					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92146659	92146659	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:92146659T>C	ENST00000248633.4	-	5	1265	c.1170A>G	c.(1168-1170)ggA>ggG	p.G390G	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	390					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCTTCAAGTCCATTCCAGA	0.358000													10	43					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136589310	136589310	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:136589310C>T	ENST00000531224.1	-	10	2639	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358000													6	76					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231299693	231299693	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:231299693C>T	ENST00000444294.3	+	1	1836	c.978C>T	c.(976-978)tgC>tgT	p.C326C	TRIM67_ENST00000366653.5_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C|TRIM67_ENST00000366652.2_Silent_p.C326C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	326						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTTATCTGTGCCTGGAGGAGG	0.652000													3	12					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204921196	204921196	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204921196G>A	ENST00000367172.4	+	5	495	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H|NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000401399.1_Missense_Mutation_p.R56H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H			O94856	NFASC_HUMAN	neurofascin	56	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGACCCCCGTGATAACATC	0.577000													9	41					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049664	49049664	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49049664G>A	ENST00000395474.3	+	2	1067	c.787G>A	c.(787-789)Gtt>Att	p.V263I	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.V182I|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	233					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGACCGAAGCGTTCGTATCTG	0.577000													24	111					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405754	1405754	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:1405754C>T	ENST00000381312.1	-	3	871	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	182	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCCAGCTCCGCCGCGCGCA	0.711000													5	28					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126687	19126687	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:19126687C>T	ENST00000381440.3	+	1	1434	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	302						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGCTGCTGCCGCCTTTCTAT	0.662000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031878	26031878	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:26031878T>C	ENST00000244661.2	-	1	410	c.411A>G	c.(409-411)taA>taG	p.*137*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	0					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GACTTTACATTTACGCTCTTT	0.438000													10	44					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGACCGCTGGGACTTT	0.706000													3	27					1	1	1	1	0
PRKAR1A	5573	broad.mit.edu	37	17	66526538	66526538	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:66526538T>G	ENST00000589228.1	+	11	1222	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	365					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCTCAGACATCCTCAAACGA	0.512000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				15	63					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433508	91433508	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91433508G>A	ENST00000328850.3	+	9	1378	c.1236_splice	c.e9+1	p.S412_splice	FES_ENST00000414248.2_Splice_Site_p.S354_splice|FES_ENST00000450438.2_Splice_Site_p.S354_splice|FES_ENST00000394300.3_Splice_Site_p.S354_splice|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Splice_Site_p.S412_splice|FES_ENST00000394302.1_Splice_Site_p.S354_splice	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	412					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTCGTCCTCGGTGAGCTGCC	0.726000													4	22					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806101	22806101	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:22806101T>A	ENST00000361524.3	-	4	1929	c.1781A>T	c.(1780-1782)tAt>tTt	p.Y594F	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	594					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATTGTGGATATAATTCAGGGC	0.428000			T	PAX5	ALL								8	33					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006196	22006196	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:22006196G>A	ENST00000276925.6	-	2	616	c.207C>T	c.(205-207)ggC>ggT	p.G69G	CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	69					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		TGGGCTCCGCGCCGTGGAGCA	0.692000													7	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56485250	56485250	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:56485250C>T	ENST00000370765.6	-	23	3689	c.3582G>A	c.(3580-3582)aaG>aaA	p.K1194K	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1535					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCGGTACTGCTTGGCTTCAC	0.493000													9	44					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617000													11	50					0	0	1	0	0
PCDHA5	0	broad.mit.edu	37	5	140203082	140203082	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140203082C>T	ENST00000529859.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGGCGGCGCAGTGAGCG	0.682000													8	99					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450661	44450661	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:44450661G>A	ENST00000356836.6	+	4	1464	c.674G>A	c.(673-675)cGc>cAc	p.R225H	B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	225					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ATGGATGACCGCAACCTATAC	0.597000													6	31					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089434	86089434	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:86089434G>A	ENST00000330753.4	+	2	2343	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	526					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCAACACAGCGTCCAGCCA	0.572000													19	124					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974998	129974998	+	Splice_Site	SNP	C	C	T	rs149497407	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:129974998C>T	ENST00000259351.5	+	16	1713	c.1446_splice	c.e16+1	p.H482_splice	RALGPS1_ENST00000373434.1_Splice_Site_p.H440_splice|RALGPS1_ENST00000424082.2_Splice_Site_p.H440_splice	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	482	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.H440H(1)|p.H482H(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGAAAACACGTAAGTCCCT	0.552000													4	29					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781218	3781218	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3781218G>A	ENST00000262367.5	-	30	5956	c.5147C>T	c.(5146-5148)aCg>aTg	p.T1716M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1716	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCCAGCGCGTCTCCACGTG	0.657000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						11	53					0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535752	15535752	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15535752G>A	ENST00000389282.4	-	8	4485	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G	WIZ_ENST00000599910.1_Silent_p.G741G|WIZ_ENST00000263381.6_Silent_p.G567G|WIZ_ENST00000599686.2_Silent_p.G608G|WIZ_ENST00000545156.1_Silent_p.G738G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1424						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCGAACTGCC	0.657000													3	8					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887682	52887682	+	Silent	SNP	T	T	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52887682T>A	ENST00000422689.2	+	4	864	c.849T>A	c.(847-849)ctT>ctA	p.L283L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	283					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATTCTCACCTTGCAAATCATC	0.408000													5	19					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80121119	80121119	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:80121119C>T	ENST00000389641.4	-	13	2033	c.1997G>A	c.(1996-1998)aGa>aAa	p.R666K	CCDC57_ENST00000392347.1_Missense_Mutation_p.R666K|CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	666										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)			GAGCTGCACTCTGTCCCCGAG	0.597000													33	152					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418789	20418789	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20418789C>T	ENST00000222573.3	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ITGB8_ENST00000537992.1_Silent_p.S33S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338000													7	22					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55315748	55315748	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:55315748G>A	ENST00000536015.1	-	28	3847	c.3728C>T	c.(3727-3729)gCg>gTg	p.A1243V	ATP8B1_ENST00000283684.4_Missense_Mutation_p.A1243V|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1243					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCTGTACTCCGCGGTGCCATC	0.617000													13	47					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40433346	40433346	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40433346G>A	ENST00000372809.5	+	10	1240	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	366					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCTTGACCCGGTTTGGCAAG	0.542000													13	63					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936817	119936817	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:119936817T>C	ENST00000297350.4	-	5	1380	c.1002A>G	c.(1000-1002)atA>atG	p.I334M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	334	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGCCATTTTTTATTCGCCACA	0.453000													19	115					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36895857C>T	ENST00000580830.1	-	5	892	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q|PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612000													13	84					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16279025	16279025	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16279025C>T	ENST00000259727.4	+	6	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	186					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GTTCTGTGTGCACCACCCGCA	0.547000													5	51					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13649582	13649582	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:13649582G>A	ENST00000404922.3	+	3	1446	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000295760.7_Missense_Mutation_p.E443K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	443	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGACCTGATCGAGACTTGCTG	0.572000													2	2					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372583	175372583	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:175372583G>A	ENST00000367674.1	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S223S(1)		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)					CGCTGTACTCGCTGTCACAGA	0.627000													28	119					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29585178	29585178	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:29585178G>A	ENST00000373779.3	+	3	496	c.367G>A	c.(367-369)Gtt>Att	p.V123I	PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V123I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	123	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACGTGCGCGTTAATGGGGG	0.627000													18	124					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329864	7329864	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7329864T>C	ENST00000333870.3	+	3	628	c.554T>C	c.(553-555)cTg>cCg	p.L185P	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.P72P	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	185						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GATTCCTACCTGGAGGAGGAG	0.587000													16	99					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	rs28363251		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46745250C>T	ENST00000343304.6	-	8	2342	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686										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)					TTGGGCTGGGCGCTTCTCAAA	0.557000													18	123					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8612974	8612974	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:8612974G>A	ENST00000338257.8	-	12	1482	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	405	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCATTGACGAAGTTGATGC	0.552000													26	161					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136969760	136969760	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:136969760G>A	ENST00000508657.1	-	12	2034	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506491.1_Silent_p.Y390Y|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.Y472Y	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	472						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGTCCGCCACGTATATCCATT	0.537000													13	83					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045766	42045766	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42045766G>A	ENST00000372584.1	-	3	5717	c.4703C>T	c.(4702-4704)cCg>cTg	p.P1568L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1568L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGAGCTCGGAGGTGCCAA	0.557000													14	61					0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202932250	202932250	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:202932250T>G	ENST00000367249.4	-	8	763	c.689A>C	c.(688-690)cAg>cCg	p.Q230P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	230					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATAGCGGGCCTGCAGTTCCTC	0.483000													9	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152718084	152718084	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152718084C>T	ENST00000367255.5	-	50	7983	c.7382G>A	c.(7381-7383)aGc>aAc	p.S2461N	SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAAGTTTGCTCTGCCCATC	0.383000										HNSCC(10;0.0054)			4	45					0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1612173	1612173	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:1612173C>T	ENST00000380874.2	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	498					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGGCTACCCGGGCCAGCAG	0.657000													2	2					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49236609	49236609	+	Silent	SNP	G	G	A	rs139735596	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:49236609G>A	ENST00000327979.2	-	3	582	c.171C>T	c.(169-171)taC>taT	p.Y57Y	FAM65C_ENST00000535356.1_Silent_p.Y61Y|FAM65C_ENST00000045083.2_Silent_p.Y57Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	57										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCGTGCCGTACATCTTGG	0.547000													10	76					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559543	73559543	+	Splice_Site	SNP	C	C	T	rs141041567	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73559543C>T	ENST00000392550.3	+	8	942	c.826_splice	c.e8+1	p.Y275_splice	LLGL2_ENST00000375227.4_Splice_Site_p.Y275_splice|LLGL2_ENST00000578363.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000577200.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000167462.5_Splice_Site_p.Y275_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	275					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGTGCCTTACGGTCAGTGTT	0.647000													10	44					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1561136	1561136	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1561136C>T	ENST00000416733.2	-	2	202	c.5G>A	c.(4-6)gGt>gAt	p.G2D	ASMTL_ENST00000381333.4_Silent_p.G56G|ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381317.3_Silent_p.G56G			O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	0					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGGCGTACCCATACGGAG	0.567000													16	90					0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33135375	33135375	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:33135375C>T	ENST00000379731.4	-	2	646	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	154					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTTTGCCACGAGCTCCAGG	0.587000													4	24					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45888875	45888875	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45888875G>A	ENST00000418234.2	-	11	2271	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PPP1R13L_ENST00000360957.5_Silent_p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	731					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCACTTCTCGAAGGCGGTGG	0.677000													7	36					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17221564	17221564	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:17221564C>T	ENST00000261381.6	-	10	2266	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	728					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						GGTGGGCTTGCGATCTTGAAG	0.488000													26	133					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33992853	33992853	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:33992853G>A	ENST00000373381.4	-	65	10353	c.10177C>T	c.(10177-10179)Cgg>Tgg	p.R3393W		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3249						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTGGGCCGGACCTCTGCT	0.517000													9	38					0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48977182	48977182	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48977182G>A	ENST00000427476.1	+	6	755	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CYTH2_ENST00000452733.2_Missense_Mutation_p.R152H	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	152	SEC7.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGAGCTTTCGCCTACCCGGA	0.612000													9	33					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32814903	32814903	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:32814903G>A	ENST00000354258.4	-	10	2323	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.P460L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	721	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AAGTACACACGGTTTCCGGAT	0.557000													16	78					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112604725	112604725	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:112604725G>A	ENST00000341068.3	-	16	2614	c.1842C>T	c.(1840-1842)acC>acT	p.T614T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAACTCAGAGGTGGCAATTT	0.328000													11	23					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91769602	91769602	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91769602G>A	ENST00000394232.1	+	2	579	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	37					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATGTCACCGAAGGCCATGA	0.537000													12	58					0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:105639420C>T	ENST00000392568.2	-	5	700	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	203	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAGATGACGCCGAGGGTCTTG	0.627000										HNSCC(42;0.11)			5	54					0	0	1	0	0
DUSP13	0	broad.mit.edu	37	10	76861673	76861673	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:76861673G>A	ENST00000491677.2	-	5	880	c.338C>T	c.(337-339)aCg>aTg	p.T113M	DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGGCAGTTCGTGCTGCTGGC	0.522000													22	73					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64877312	64877312	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64877312G>A	ENST00000279281.3	+	7	1887	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		GGAGACTCGCGACTGGCTCAG	0.657000													4	15					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10255194	10255194	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:10255194C>T	ENST00000256458.4	+	6	840	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	250	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGGATCAATCGAAAGATTCT	0.463000													7	52					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215102	3215102	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3215102G>A	ENST00000400569.3	-	2	453	c.120C>T	c.(118-120)acC>acT	p.T40T	MYOM1_ENST00000261606.7_Silent_p.T40T|MYOM1_ENST00000356443.4_Silent_p.T40T|RP13-270P17.2_ENST00000580139.1_RNA			P52179	MYOM1_HUMAN	myomesin 1	40						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGAGCCCTGGGTGTAGACGG	0.677000													14	40					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:182569617G>A	ENST00000367558.5	-	5	567	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	140	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTTCATCCTCGTCAGCTCGTG	0.592000													12	62					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216198	27216198	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:27216198T>C	ENST00000374135.4	-	1	590	c.390A>G	c.(388-390)caA>caG	p.Q130Q		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	130							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ACTGCGCCATTTGGGAGAAGA	0.647000													16	78					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330519	21330519	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:21330519G>A	ENST00000399167.2	+	10	1063	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGTGGACGTGAGAACTAA	0.607000													3	17					0	0	1	0	0
GFOD2	81577	broad.mit.edu	37	16	67709621	67709621	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67709621C>T	ENST00000268797.7	-	3	940	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	199						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTGAGCAGCCCGTGCACCTTC	0.617000													10	48					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707232	242707232	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:242707232G>A	ENST00000321264.4	+	10	1623	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	472					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAGGGCAGCGTCAGCGCGGA	0.682000													4	25					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56688555	56688555	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:56688555G>A	ENST00000389934.3	-	10	1268	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	TEX14_ENST00000349033.5_Missense_Mutation_p.A384V|TEX14_ENST00000240361.8_Missense_Mutation_p.A390V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	390	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCAGCCTCGCTTCACCTGG	0.522000													23	116					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467947	10467947	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:10467947C>T	ENST00000382483.3	-	4	3884	c.3661G>A	c.(3661-3663)Ggc>Agc	p.G1221S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1221					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCAGGGTGCCGTCCATGGCA	0.582000													4	28					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112271	64112271	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64112271G>A	ENST00000356786.5	+	14	2302	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	753					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGGCCCGCAAGCTGGAG	0.682000													4	18					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638608	18638608	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18638608C>T	ENST00000449552.2	+	7	2366	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	294	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512000													12	43					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879678	3879678	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3879678G>A	ENST00000315677.3	-	4	986	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	131					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGTCGCTGCGGTGCTCCACG	0.677000													14	127					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140348548	140348548	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140348548C>T	ENST00000289269.5	+	1	2729	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		733					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGCTACCGCTACACTGC	0.408000													8	27					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131381261	131381261	+	Silent	SNP	C	C	T	rs150960451		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131381261C>T	ENST00000358161.5	+	44	5825	c.5712C>T	c.(5710-5712)ggC>ggT	p.G1904G	SPTAN1_ENST00000372731.4_Silent_p.G1899G|SPTAN1_ENST00000372739.3_Silent_p.G1904G			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1899					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						AAGATTATGGCGACACTCTTG	0.493000													8	27					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65237622	65237622	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65237622C>T	ENST00000389722.3	-	26	5832	c.5779G>A	c.(5779-5781)Gag>Aag	p.E1927K	SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1927K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1927					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGGGTCTCGATCTGCCGG	0.647000													9	56					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695246	29695246	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29695246G>A	ENST00000397938.2	+	15	1922	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T|EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGAACTTCGCCTGGAGAAC	0.517000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								30	137					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433350	73433350	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73433350C>T	ENST00000263666.4	-	10	2481	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000479530.1_Silent_p.P506P|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000535920.1_Silent_p.P511P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	789							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCGCTGCTCGGGCAGCTGA	0.647000													10	47					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3235012	3235012	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3235012C>T	ENST00000355072.5	+	61	8533	c.8388C>T	c.(8386-8388)gaC>gaT	p.D2796D	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2796					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTGCTGGACGACACTGCCA	0.657000													27	196					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338000													18	67					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65547172	65547172	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65547172C>T	ENST00000532090.2	-	2	1002	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	207	Leu-rich.						protein binding			lung(1)	1						GCAGCTCCCGCGCCTCCTCAG	0.692000													15	61					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223536	44223536	+	Missense_Mutation	SNP	G	G	A	rs147576016	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44223536G>A	ENST00000244314.5	+	2	1025	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	276						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTGTTGGGCGTCATCCAGGC	0.637000													7	51					0	0	1	0	0
AMZ2P1	0	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	57					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423505	88423505	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:88423505G>A	ENST00000394480.1	-	18	2609	c.2288C>T	c.(2287-2289)aCg>aTg	p.T763M	NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T777M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	777	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTACCTCCGTGTTTGAGAG	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			12	67					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588369	57588369	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:57588369G>A	ENST00000243077.3	+	50	8544	c.8078G>A	c.(8077-8079)cGc>cAc	p.R2693H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2693					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGTGAAACGCCCCAGATGC	0.647000													13	76					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045218	76045218	+	Silent	SNP	C	C	T	rs138478334	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76045218C>T	ENST00000335749.4	+	3	644	c.75C>T	c.(73-75)ggC>ggT	p.G25G	TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000588061.1_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	25	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCACCAATGGCGCACTCGTCC	0.552000													7	26					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79898329	79898329	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79898329G>A	ENST00000360280.3	+	30	3437	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	VPS13A_ENST00000357409.5_Silent_p.S1059S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000376636.3_Intron	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1059					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAATTATCGTGTTTACAGA	0.244000													4	12					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38305823	38305823	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38305823C>T	ENST00000373036.4	-	3	556	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	139						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACATTGGTACCGCTTTACCTG	0.547000													15	46					0	0	1	0	0
JMJD7-PLA2G4B	0	broad.mit.edu	37	15	42132808	42132808	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:42132808A>G	ENST00000382448.4	+	8	871	c.862A>G	c.(862-864)Agc>Ggc	p.S288G	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S57G	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		57	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAACAGCAGTAGCCCTGTCTG	0.617000													20	56					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383810	33383810	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33383810C>T	ENST00000374516.3	+	15	1910	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	547					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGTCCTTGCTCGGAGAGTACG	0.632000													19	115					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55840761	55840761	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:55840761C>T	ENST00000395863.3	-	1	923	c.418_splice	c.e1+1	p.V140_splice	BMP7_ENST00000450594.2_Splice_Site_p.V140_splice|BMP7_ENST00000395864.3_Splice_Site_p.V140_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.V140M(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCTTACTCACCGAGGTTGACG	0.622000													4	5					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36880921	36880921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36880921C>T	ENST00000325718.7	+	19	3023	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	978	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCAGCAGAAACGGGAGCTGCA	0.652000			T	MLL	AL								3	27					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72541754	72541754	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:72541754C>T	ENST00000299290.1	-	4	469	c.80G>A	c.(79-81)cGc>cAc	p.R27H	TBATA_ENST00000545575.1_Missense_Mutation_p.R17H|TBATA_ENST00000456372.2_Missense_Mutation_p.R27H	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CCTTGGCTTGCGCCCTGACTT	0.592000													14	74					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687000													4	16					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295816	20295816	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:20295816A>G	ENST00000568211.1	+	1	209	c.209A>G	c.(208-210)gAt>gGt	p.D70G	OR4N2_ENST00000315947.1_Missense_Mutation_p.D70G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	70					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)		GCCTTCCTGGATGCATCCTAC	0.488000													28	145					0	0	1	0	0
LILRA2	0	broad.mit.edu	37	19	55086796	55086796	+	Silent	SNP	G	G	A	rs148748826		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55086796G>A	ENST00000251377.3	+	6	862	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRA2_ENST00000251376.3_Silent_p.Q243Q					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCTG	0.577000													15	94					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18232643	18232643	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18232643G>A	ENST00000316694.3	-	11	1365	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	411					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAAAGTCCACGGGACGTCAGT	0.483000													3	17					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122340432	122340432	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122340432C>T	ENST00000483793.1	+	6	867	c.827C>T	c.(826-828)tCg>tTg	p.S276L	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000464300.2_Missense_Mutation_p.S402L|PARP15_ENST00000310366.4_Missense_Mutation_p.S168L			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	444	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTACACATCGGTTTCCCTT	0.383000													11	81					0	0	1	0	0
RP11-542C16.2	0	broad.mit.edu	37	17	7221199	7221199	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7221199G>A	ENST00000575474.1	-	5	553	c.554C>T	c.(553-555)gCc>gTc	p.A185V	NEURL4_ENST00000399464.2_Silent_p.C1371C|NEURL4_ENST00000570460.1_Silent_p.C1347C|NEURL4_ENST00000315614.7_Silent_p.C1369C|NEURL4_ENST00000574120.1_5'UTR																							GCAGCTTCCGGCAAGACTCAC	0.587000													12	73					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24994194	24994194	+	Silent	SNP	G	G	A	rs139870683		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:24994194G>A	ENST00000537502.1	-	8	2839	c.1308C>T	c.(1306-1308)gaC>gaT	p.D436D	ACSS1_ENST00000432802.2_Silent_p.D519D|ACSS1_ENST00000323482.4_Silent_p.D519D|ACSS1_ENST00000542618.1_Silent_p.D398D			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	519					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAAGTAGGCGTCCACAAATC	0.572000													5	35					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27999103	27999103	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:27999103G>A	ENST00000269033.3	-	8	729	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SSH2_ENST00000540801.1_Missense_Mutation_p.A220V|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGTTATGCGCTCTGGCGAC	0.468000													10	33					0	0	1	0	0
PCDHGB2	0	broad.mit.edu	37	5	140741805	140741805	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140741805G>A	ENST00000522605.1	+	1	2103	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTCAGTGCTCTTCTTCC	0.577000													21	67					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047381	75047381	+	Silent	SNP	C	C	T	rs111900570		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:75047381C>T	ENST00000343932.4	+	7	1566	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	501					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCATGAAGCACGCCCGCTGTG	0.627000													14	44					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50892978	50892978	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:50892978G>A	ENST00000380817.2	-	36	5189	c.5006C>T	c.(5005-5007)cCg>cTg	p.P1669L	SBF1_ENST00000390679.3_Missense_Mutation_p.P1643L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1643					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGGCCCGCGGGCAGCTGTC	0.701000													14	69					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75888897	75888897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:75888897G>A	ENST00000355264.4	-	6	1083	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	258	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GATATGAGTCGGAAATTTCCA	0.438000													9	43					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27759145	27759145	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:27759145C>T	ENST00000295743.4	-	6	1680	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	EOMES_ENST00000537516.1_Missense_Mutation_p.E217K|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K			O95936	EOMES_HUMAN	eomesodermin	493					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGGTTCTCTCGCCATTATAA	0.572000													9	90					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884628	29884628	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:29884628G>A	ENST00000308713.5	-	14	2948	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G|SEZ6L2_ENST00000346932.5_Silent_p.G693G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	807	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGACCTCGCCGATAAGCT	0.642000													16	73					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115610038	115610038	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:115610038G>A	ENST00000361384.2	-	2	1743	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	276					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTGCAAGACGCAAAGCAACT	0.383000								Other identified genes with known or suspected DNA repair function					10	45					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536525	1536525	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1536525G>A	ENST00000440447.2	-	3	478	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PTX4_ENST00000293922.1_Silent_p.V279V|PTX4_ENST00000447419.2_Silent_p.V284V			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGAGGAAGACCACGTTCC	0.662000													11	48					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162875737	162875737	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:162875737A>G	ENST00000360534.3	-	15	1854	c.1294T>C	c.(1294-1296)Tat>Cat	p.Y432H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	432					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTTACTTATAAAGATTCCTT	0.284000													11	44					0	0	1	0	0
RGMA	56963	broad.mit.edu	37	15	93595350	93595350	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93595350G>A	ENST00000329082.7	-	3	789	c.518C>T	c.(517-519)aCt>aTt	p.T173I	RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I|RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	173					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGGTGAAAGTCCTGAGGTG	0.602000													4	22					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1164338	1164338	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1164338C>T	ENST00000290902.5	-	5	995	c.663G>A	c.(661-663)ccG>ccA	p.P221P	SPON2_ENST00000431380.1_Silent_p.P221P	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	221	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AGGAGTTGGCCGGGTGGCTGG	0.652000													4	26					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480819	37480819	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37480819G>A	ENST00000381792.2	-	9	1174	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P354L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	354	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGGAAGTACGGGGTGCTGAG	0.647000													3	4					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260131	65260131	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65260131G>A	ENST00000389722.3	-	13	2303	c.2250C>T	c.(2248-2250)ggC>ggT	p.G750G	SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000389721.5_Silent_p.G750G|SPTB_ENST00000542895.1_Silent_p.G750G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	750					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCGCATCGCCCTGGAACT	0.602000													5	28					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862610	38862610	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38862610G>A	ENST00000339659.3	+	6	2241	c.771G>A	c.(769-771)gcG>gcA	p.A257A	DYRK1A_ENST00000451934.1_Silent_p.A266A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000455387.2_Silent_p.A38A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000398960.2_Silent_p.A266A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	266	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAAGTTTGCGCAACAGATGT	0.413000													9	30					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040431	103040431	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103040431C>T	ENST00000264260.2	+	4	820	c.231C>T	c.(229-231)aaC>aaT	p.N77N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	77					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGGTAGTAACGACCTATCTG	0.438000													6	25					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96543151	96543151	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:96543151T>C	ENST00000376747.3	-	25	2993	c.2923A>G	c.(2923-2925)Aca>Gca	p.T975A		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	975					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTCTCTTGTTAATGGATCA	0.279000													3	19					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60073488	60073488	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:60073488C>T	ENST00000371218.4	+	9	1101	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FGGY_ENST00000371210.1_Missense_Mutation_p.P7L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000303721.7_Missense_Mutation_p.P306L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	306					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGCAAAGACCCGATTTTTGTA	0.458000													8	33					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68691458	68691458	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:68691458C>T	ENST00000283916.6	-	9	1185	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	363	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCTGACATGCGTCCACTCCA	0.403000													4	21					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378897	16378897	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16378897G>A	ENST00000375679.4	+	15	1724	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCTGGGCCGCAACATCGGG	0.597000													8	46					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46917787	46917787	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:46917787C>A	ENST00000378623.1	-	9	1264	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	341	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTTTCGTCGCTGTTGTCACC	0.597000													17	71					3.99206e-14	4.11663e-14	1	1	0
TUBB4A	10382	broad.mit.edu	37	19	6496044	6496044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:6496044G>A	ENST00000264071.2	-	4	837	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R156C			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	156					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										AACTCCTCGCGGATCTTACTG	0.637000													22	81					0	0	1	0	0
RHOC	389	broad.mit.edu	37	1	113246352	113246352	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113246352C>T	ENST00000285735.2	-	3	1279	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I			P08134	RHOC_HUMAN	ras homolog family member C	24					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCTGAAGACGATGAGGAGG	0.537000													4	20					0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117047719	117047719	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:117047719G>A	ENST00000368564.1	+	12	1335	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	393	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GCAGAGTTTCGTACCAGAAAA	0.343000													4	31					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:5041502G>A	ENST00000574788.1	+	21	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	338					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V338M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								30	131					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751254	140751254	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140751254G>A	ENST00000576222.1	+	1	1424	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATCCACCGCTCTCCTCCA	0.527000													40	118					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17438497	17438497	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:17438497G>A	ENST00000302539.4	-	17	2363	c.2238C>T	c.(2236-2238)agC>agT	p.S746S	ABCC8_ENST00000389817.3_Silent_p.S745S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	745	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCCTATCTCGCTGTCAGGAA	0.567000													3	21					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153033811	153033811	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153033811C>T	ENST00000538966.1	+	5	1534	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000361971.5_Silent_p.S398S|PLXNB3_ENST00000538776.1_Silent_p.S51S|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	398	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGTCAGCGCCGTGGCAG	0.692000													6	22					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	986959	986959	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:986959G>A	ENST00000379370.2	+	32	5547	c.5497G>A	c.(5497-5499)Gtc>Atc	p.V1833I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1833	EGF-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTCCTGCGTCCCGAGGGA	0.706000													3	10					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37455445	37455445	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37455445C>T	ENST00000403888.3	+	5	601	c.600C>T	c.(598-600)aaC>aaT	p.N200N	KCTD17_ENST00000402077.3_Silent_p.N200N			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	200						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GCACCCCAAACGGGCTGAGCT	0.627000													17	90					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	602413	602413	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:602413C>T	ENST00000219611.2	+	11	2983	c.2620C>T	c.(2620-2622)Cgc>Tgc	p.R874C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CCACAGTAAGCGCGCGGTCAA	0.692000													4	29					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	34					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115025	131115025	+	Splice_Site	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131115025C>T	ENST00000300456.3	+	7	1103	c.987_splice	c.e7+1	p.T329_splice	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	329					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TACAACTGCACGGTGAGCGAG	0.567000													4	41					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540274	133540274	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:133540274C>T	ENST00000409261.1	-	14	4483	c.4110G>A	c.(4108-4110)ttG>ttA	p.L1370L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1370							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGGATCCTCAAAGGCAACT	0.622000													12	48					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122160929	122160929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122160929G>A	ENST00000344337.6	-	10	1128	c.952C>T	c.(952-954)Cga>Tga	p.R318*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	318	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CCCACAGCTCGCAAAGCAGGA	0.353000													13	111					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635813	65635813	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65635813G>A	ENST00000307998.6	-	9	1157	c.927C>T	c.(925-927)tgC>tgT	p.C309C	EFEMP2_ENST00000528176.1_Silent_p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	309	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGTCCACGCAGCGGTAGC	0.602000													7	30					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214556764	214556764	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:214556764C>T	ENST00000366956.5	-	13	2628	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	812					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTAGTCAGGTCGGGTTCCGAG	0.567000													9	76					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230725184	230725184	+	Silent	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:230725184A>G	ENST00000389044.4	-	3	330	c.162T>C	c.(160-162)tcT>tcC	p.S54S	TRIP12_ENST00000409677.1_Silent_p.S54S|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Silent_p.S54S|TRIP12_ENST00000283943.5_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGGTGCCTTAGAATTAGATT	0.388000													7	56					0	0	1	0	0
PCDHA8	0	broad.mit.edu	37	5	140222184	140222184	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140222184C>T	ENST00000531613.1	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTAACCGCGCGGGACG	0.637000													22	135					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62200950	62200950	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:62200950T>C	ENST00000394997.1	+	8	1243	c.978T>C	c.(976-978)taT>taC	p.Y326Y	HIF1A_ENST00000539097.1_Silent_p.Y349Y|HIF1A_ENST00000337138.4_Silent_p.Y325Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTGTCATATATAACACCAAGA	0.383000													8	31					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121747516	121747516	+	Missense_Mutation	SNP	T	T	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:121747516T>G	ENST00000261819.3	-	16	2165	c.2044A>C	c.(2044-2046)Aag>Cag	p.K682Q	ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCTTTCTTCGGCTGATCG	0.483000													12	32					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42275596	42275596	+	Silent	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:42275596T>C	ENST00000373030.3	+	14	1417	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	IFT52_ENST00000373039.4_Silent_p.S429S|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	429						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGATACAAGTGAAACAGCAT	0.353000													13	72					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53728214	53728214	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:53728214C>A	ENST00000306052.6	-	11	1779	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	LRP8_ENST00000354412.3_Missense_Mutation_p.G431W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000347547.2_Missense_Mutation_p.G390W	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	560					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCCTGGTCCCCCCAGTCAGAC	0.502000													44	211					5.73435e-26	5.92169e-26	1	1	0
CDC42EP1	11135	broad.mit.edu	37	22	37962558	37962558	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37962558G>A	ENST00000249014.4	+	2	622	c.202G>A	c.(202-204)Ggt>Agt	p.G68S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	68					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CAGCAACCACGGTGGCAGCTC	0.677000													7	27					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260244	66260244	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66260244G>A	ENST00000532677.1	+	10	1504	c.1103G>A	c.(1102-1104)aGc>aAc	p.S368N	DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N|DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000360510.2_Missense_Mutation_p.S349N|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	349					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTGGCGAGCGCAGAGCAG	0.597000													19	98					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33596305	33596305	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:33596305A>G	ENST00000321505.4	+	9	3577	c.3397A>G	c.(3397-3399)Acc>Gcc	p.T1133A	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T1139A|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T1139A					KIAA1549-like																		GACTTACTATACCCTGTACAA	0.542000													10	64					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630925	630925	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:630925C>T	ENST00000321878.5	+	9	1643	c.1484C>T	c.(1483-1485)cCg>cTg	p.P495L	PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L|PIGQ_ENST00000026218.5_Missense_Mutation_p.P495L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	495	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AACTCCCTGCCGCTGTACTCA	0.657000													28	148					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121166	95121166	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:95121166G>A	ENST00000377028.5	-	2	842	c.429C>T	c.(427-429)ggC>ggT	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					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)		GATCTAAGGCGCCCAAGAACT	0.562000													34	143					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628907	71628907	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:71628907G>A	ENST00000377276.2	-	1	132	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTTTTGAGCGGGGTTTCCCC	0.627000													10	38					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33589834	33589834	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:33589834G>A	ENST00000262873.7	+	42	5978	c.5886G>A	c.(5884-5886)gcG>gcA	p.A1962A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1920						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGACATGGCGGAAACCCAGG	0.672000													15	25					0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26505777	26505777	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:26505777C>T	ENST00000317799.5	+	11	1102	c.998C>T	c.(997-999)cCg>cTg	p.P333L	HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000537713.1_Missense_Mutation_p.P318L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	333					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATAAGCCGAAGGCATAT	0.363000													6	24					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25174561	25174561	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:25174561G>A	ENST00000276440.7	+	14	1401	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	453	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488000													15	80					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125268	6125268	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6125268G>A	ENST00000261405.5	-	31	5696	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1814	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.A1814A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGACCTGGCGGCATCAGCTG	0.522000													11	27					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14504649	14504649	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:14504649C>T	ENST00000344204.4	+	55	8583	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_ENST00000344135.5_Silent_p.V352V|TRIO_ENST00000537187.1_Silent_p.V2677V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.V2853V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587000													43	233					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646834	122646834	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122646834C>T	ENST00000195173.4	-	8	956	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R218Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	218	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCAATAGTCCGGCTGAGGTT	0.587000													6	41					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32458878	32458878	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:32458878G>T	ENST00000548411.1	+	4	1008	c.827G>T	c.(826-828)gGg>gTg	p.G276V	BICD1_ENST00000281474.5_Missense_Mutation_p.G276V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	276					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGGATGGGAGTGAACCA	0.458000													7	31					1.76689e-08	1.80665e-08	1	1	0
RGS12	6002	broad.mit.edu	37	4	3318863	3318863	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3318863C>T	ENST00000336727.3	+	2	1870	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000344733.5_Silent_p.D322D|RGS12_ENST00000543385.1_Silent_p.D322D	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	322	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAATGACGACGGGAGCCTGG	0.617000													18	108					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564024	37564024	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:37564024C>T	ENST00000300651.6	-	17	4673	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1484					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CGGATACCATCGTCTGAGCTG	0.448000										HNSCC(31;0.082)			7	31					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414533	19414533	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19414533G>A	ENST00000247001.5	-	5	1009	c.662_splice	c.e5+1	p.A221_splice	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	221					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						AGATACTCACGCAAATGCTGG	0.542000													41	171					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120744898	120744898	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:120744898G>A	ENST00000527524.2	+	10	1317	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S|RP11-640N11.2_ENST00000505153.2_RNA			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	344					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGGCAGCACGGCACCAGCCT	0.622000													8	19					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47769458	47769458	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47769458T>C	ENST00000398545.4	-	6	1142	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	342										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATATTTATGGTATATCTTCTG	0.308000													6	32					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219480	23219480	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23219480G>A	ENST00000400191.3	+	7	1550	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	511	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCGGGCACGCACCGTGGCA	0.602000													9	81					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34340709	34340709	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:34340709G>A	ENST00000257209.4	+	23	4161	c.4039G>A	c.(4039-4041)Gcg>Acg	p.A1347T	FHOD3_ENST00000359247.4_Missense_Mutation_p.A1330T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1330					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCCACCCCCGCGCTGGGCGT	0.682000													6	26					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22862016	22862016	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22862016C>T	ENST00000251822.6	+	2	606	c.69C>T	c.(67-69)aaC>aaT	p.N23N	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.N45N|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.N30N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	23	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGGGGACAACGCCGTGGGTA	0.587000											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	53					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31906941	31906941	+	Silent	SNP	G	G	A	rs11554767	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:31906941G>A	ENST00000373710.1	+	11	1563	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	SERINC2_ENST00000373709.3_Silent_p.T421T|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	422						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATCAGCACGTGGACCGCCG	0.627000													28	155					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000543201.1_Silent_p.T726T|ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602000													7	55					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612511	7612511	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7612511C>T	ENST00000226091.2	+	5	1037	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	214					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAACCTCCCGGGGTGCTGA	0.701000													19	83					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73048739	73048739	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:73048739A>T	ENST00000335350.6	+	8	1507	c.1091A>T	c.(1090-1092)aAc>aTc	p.N364I	UNC5B_ENST00000373192.4_Intron	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	364					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGACCCCAACAGCCACCGT	0.522000													7	21					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	rs1276708		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:16989253G>A	ENST00000377833.4	-	36	5388	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12.		R -> W (in dbSNP:rs1276708).		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	p.R1775W(1)		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)	AGCTGGAGCCGGTTGCCAGGG	0.453000													4	21					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132334	124132334	+	Silent	SNP	C	C	T	rs149412677		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:124132334C>T	ENST00000360013.3	+	14	2485	c.2358C>T	c.(2356-2358)gaC>gaT	p.D786D	KALRN_ENST00000240874.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					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						CAGAGCTAGACGCCTGGAATG	0.532000													4	26					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342454	122342454	+	Silent	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122342454G>A	ENST00000434824.1	-	1	567	c.351C>T	c.(349-351)aaC>aaT	p.N117N	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	117	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTGCTGCCACGTTGATTTTAT	0.483000													32	149					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233757708	233757708	+	Missense_Mutation	SNP	C	C	T	rs146544382	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233757708C>T	ENST00000264051.3	-	7	1320	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	NGEF_ENST00000539537.1_Missense_Mutation_p.V71M|NGEF_ENST00000373552.4_Missense_Mutation_p.V256M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	348	DH.				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATGTCACACACGTCAGAGATG	0.587000													15	83					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563937	75563937	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:75563937C>T	ENST00000336257.3	-	3	1740	c.346G>A	c.(346-348)Gac>Aac	p.D116N	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D122N	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	116					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGCATCAGGTCGCGCACGGCC	0.612000													13	60					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232196543	232196543	+	Silent	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232196543C>T	ENST00000349938.4	+	20	2006	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	604							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562000													4	24					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63206629	63206629	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:63206629G>A	ENST00000449996.3	+	17	1376	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	RGS9_ENST00000262406.9_Missense_Mutation_p.R438H|RGS9_ENST00000443584.3_Missense_Mutation_p.R435H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	438					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTATGCGGCGTCACCTGCGC	0.572000													14	103					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130489367	130489367	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:130489367C>T	ENST00000373289.3	+	11	1624	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	515							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCTGCAGGCCGGCAGCCCA	0.662000													6	27					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445737	98445737	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98445737C>T	ENST00000450876.1	-	8	2277	c.962G>A	c.(961-963)cGt>cAt	p.R321H	TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000416379.2_Missense_Mutation_p.R417H			Q8N3G9	TM130_HUMAN	transmembrane protein 130	417						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGTTCTCACGAACAATTTC	0.567000													9	43					0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711044	38711044	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38711044G>A	ENST00000246657.2	-	3	1149	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	363					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ATGGAGGAGCGCCGGATGTGC	0.632000													16	70					0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391921	58391921	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58391921C>T	ENST00000361987.4	+	2	609	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGACCTTCGTTTCATTTC	0.463000													10	49					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497583	73497583	+	Missense_Mutation	SNP	C	C	T	rs140270094	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73497583C>T	ENST00000321617.3	-	19	4070	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm		p.L1159_A1162del(1)		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)			CTCTTCTCTGCGGCTCTCAGT	0.657000													32	145					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	108437	108437	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:108437C>T	ENST00000262316.6	-	18	2612	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	824					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACAGGATAGACGTAGAAGAGG	0.557000													19	134					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41497314	41497314	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41497314G>A	ENST00000324071.4	+	1	111	c.104G>A	c.(103-105)cGc>cAc	p.R35H	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	35					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCAGGGCCCCGCCCTCTGCCC	0.572000													51	257					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58700883	58700883	+	Splice_Site	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:58700883G>A	ENST00000305921.3	+	2	706	c.472_splice	c.e2-1	p.A158_splice		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	158	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403000													22	126					0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44371976	44371976	+	Silent	SNP	C	C	T	rs34262262		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:44371976C>T	ENST00000350028.4	+	8	847	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SAMM50_ENST00000396202.3_Silent_p.G20G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	230					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTGGGAAGGCGTATGGCGAG	0.483000													5	31					0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36907719	36907719	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:36907719C>A	ENST00000216190.8	-	14	1834	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	EIF3D_ENST00000462641.1_5'UTR|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C|EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	488						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTAAAATGCCCCAGGCATTCT	0.542000											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					2.0095e-06	2.04037e-06	1	1	0
LRRC41	10489	broad.mit.edu	37	1	46751151	46751151	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46751151G>A	ENST00000343304.6	-	4	1663	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	460										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)					GAGATGCTGCGGAATCTTTGT	0.562000													12	66					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363698	46363698	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:46363698G>A	ENST00000291634.6	+	2	277	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	FAM207A_ENST00000397826.3_Missense_Mutation_p.V77I	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	77																	TGTCACTTCCGTCAGGAGAGG	0.597000													10	43					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152821637	152821637	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152821637G>A	ENST00000370186.1	+	12	2473	c.2147G>A	c.(2146-2148)tGc>tAc	p.C716Y	ATP2B3_ENST00000349466.2_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	730					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGTGCCTAGAAGGG	0.637000													12	22					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111453	55111453	+	Silent	SNP	C	C	A	rs79231280	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:55111453C>A	ENST00000314721.2	+	1	827	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGTTAGACCCGTTTCCAACT	0.388000													5	26					0.000602214	0.000607226	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156937788	156937788	+	Silent	SNP	G	G	A	rs149641569		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156937788G>A	ENST00000368194.3	-	11	1993	c.954C>T	c.(952-954)acC>acT	p.T318T	ARHGEF11_ENST00000361409.2_Silent_p.T278T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	278	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGTCACCGGTTGAGGGGA	0.582000													7	45					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369757	139369757	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139369757G>A	ENST00000313050.7	-	1	2384	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000371706.3_Missense_Mutation_p.R593W|SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	593					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)		CTTGGGTTCCGTGACTGCTGC	0.612000													3	28					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211462719	211462719	+	Missense_Mutation	SNP	T	T	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:211462719T>C	ENST00000367005.4	+	7	887	c.746T>C	c.(745-747)tTg>tCg	p.L249S	RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S|RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATGGAGTTGATCTCTCTA	0.413000													7	29					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129094302	129094302	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:129094302C>T	ENST00000249344.2	+	7	680	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	STRIP2_ENST00000435494.2_Missense_Mutation_p.R214C	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GGAAAATATTCGCCTGGAGCG	0.522000													7	47					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40474485	40474485	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:40474485G>A	ENST00000264657.5	-	21	2228	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000389272.3_Missense_Mutation_p.P541L|STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	639	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTGTGTATGGTTCCACGGA	0.453000									Hyperimmunoglobulin E Recurrent Infection Syndrome				18	82					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	878744	878745	+	Frame_Shift_Del	DEL	GA	GA	-	rs72902602	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:878744_878745delGA	ENST00000342066.3	+	12	1759_1760	c.1676_1677delGA	c.(1675-1677)gfs	p.G559fs		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	559	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGGCTGTGGAGAGTACACTC	0.658													15	63	---	---	---	---					
TCEB3	6924	broad.mit.edu	37	1	24080607	24080609	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:24080607_24080609delGAA	ENST00000418390.2	+	6	1904_1906	c.1633_1635delGAA	c.(1633-1635)del	p.E548del		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCACCCCAGGAAGAAGAAGAAG	0.473													9	57	---	---	---	---					
RLF	6018	broad.mit.edu	37	1	40705391	40705391	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40705391delA	ENST00000372771.4	+	8	5044	c.5017delA	c.(5017-5019)aafs	p.K1673fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1673					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTTGAAATGTAATCA	0.408													9	59	---	---	---	---					
AGL	178	broad.mit.edu	37	1	100346968	100346970	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:100346968_100346970delCTT	ENST00000294724.4	+	16	2600_2602	c.2122_2124delCTT	c.(2122-2124)del	p.L708del	AGL_ENST00000370161.2_In_Frame_Del_p.L692del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	708					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATCAGTAAACTTCATCAGGAGC	0.394													12	99	---	---	---	---					
RGS2	5997	broad.mit.edu	37	1	192779369	192779369	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:192779369delA	ENST00000235382.5	+	2	215	c.184delA	c.(184-186)aafs	p.K63fs	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2, 24kDa	63	Necessary for membrane association.				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity			large_intestine(3)|lung(1)|urinary_tract(1)	5						CAAAACCGGCAAAAAAAGCAA	0.368													7	50	---	---	---	---					
CFH	3075	broad.mit.edu	37	1	196709822	196709824	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:196709822_196709824delAGA	ENST00000367429.4	+	18	3096_3098	c.2856_2858delAGA	c.(2854-2859)gga>gg	p.GE952del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	952	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTATGGAGAAGAAGTTACG	0.384													12	66	---	---	---	---					
FAM98A	25940	broad.mit.edu	37	2	33813402	33813402	+	Splice_Site	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:33813402delT	ENST00000403368.1	-	4	591	c.522_splice	c.e4+1	p.K174_splice	FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	175										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													17	55	---	---	---	---					
CCDC74A	90557	broad.mit.edu	37	2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cafs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	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	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602													19	171	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179610612	179610612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179610612delA	ENST00000360870.5	-	46	16737	c.16515delT	c.(16513-16515)ttfs	p.F5505fs	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						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)			CCTGAAATTCAAAAAAACTGT	0.378													9	72	---	---	---	---					
RP11-380O24.1	0	broad.mit.edu	37	3	9390687	9390687	+	RNA	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:9390687delC	ENST00000491930.2	-	0	190				RP11-380O24.1_ENST00000518331.1_RNA																							ATGGCAACAGCCCCCCGGGCA	0.517													12	50	---	---	---	---					
ZNF385D	79750	broad.mit.edu	37	3	21792397	21792398	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:21792397_21792398delTA	ENST00000281523.2	-	1	529_530	c.11_12delTA	c.(10-12)afs	p.I4fs	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	4						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAAATACATTATGTTTCTCAT	0.470													10	51	---	---	---	---					
DNAH1	25981	broad.mit.edu	37	3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:52412624delC	ENST00000420323.2	+	47	7466	c.7205delC	c.(7204-7206)gcfs	p.A2402fs		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2402	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGCTGGGGCCCCCCACATT	0.627													11	187	---	---	---	---					
NR1I2	8856	broad.mit.edu	37	3	119536021	119536021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:119536021delC	ENST00000393716.2	+	9	3106	c.1267delC	c.(1267-1269)ccfs	p.P423fs	NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000337940.4_Frame_Shift_Del_p.P462fs	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	423	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTTTGCTACGCCCCTCATGCA	0.617													22	95	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2698177	2698177	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2698177delA	ENST00000324666.5	+	16	2842	c.2491delA	c.(2491-2493)aafs	p.K832fs	FAM193A_ENST00000545951.1_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.K832fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.K854fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.K832fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	832										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGAGCAACCTAAAAAAATGGA	0.453													11	48	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39230192	39230193	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:39230192_39230193delAC	ENST00000399820.3	+	17	2018_2019	c.1864_1865delAC	c.(1864-1866)afs	p.T622fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	622					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GACCTGCCAAACACAGAGTGGA	0.441													12	72	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								9	36	---	---	---	---					
CCDC111	0	broad.mit.edu	37	4	185593424	185593424	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:185593424delT	ENST00000314970.6	+	7	1087	c.654delT	c.(652-654)cafs	p.H218fs	CCDC111_ENST00000503752.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000512834.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000515774.1_Frame_Shift_Del_p.H89fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		218					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GATTTCCCCATTTTTCAGAAG	0.408													9	64	---	---	---	---					
PRPF4B	8899	broad.mit.edu	37	6	4032804	4032806	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:4032804_4032806delAAG	ENST00000337659.6	+	2	1153_1155	c.1053_1055delAAG	c.(1051-1056)aaa>aa	p.KR351del	PRPF4B_ENST00000538861.1_In_Frame_Del_p.KR337del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	351	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGTCCTAAAAGAAGAAGTTTG	0.414													14	81	---	---	---	---					
ABCF1	23	broad.mit.edu	37	6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(781-786)ctaaaafs	p.LK261fs	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	261					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.450													14	46	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-	rs76774128		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tcfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567													30	139	---	---	---	---					
UFL1	23376	broad.mit.edu	37	6	96999786	96999786	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:96999786delA	ENST00000369278.4	+	17	2038	c.1972delA	c.(1972-1974)aafs	p.K659fs		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	659					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAGGGGAGACAAAAAAAGGGA	0.338													10	65	---	---	---	---					
KLHL7	55975	broad.mit.edu	37	7	23207467	23207468	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:23207467_23207468delTG	ENST00000322231.7	+	10	1614_1615	c.1124_1125delTG	c.(1123-1125)cfs	p.L375fs	KLHL7_ENST00000339077.4_Frame_Shift_Del_p.L397fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	397						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTCAGCTCTGTATTTATTTG	0.465													7	36	---	---	---	---					
UPK3B	80761	broad.mit.edu	37	7	76140012	76140014	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:76140012_76140014delCTC	ENST00000419923.2	+	1	268_270	c.43_45delCTC	c.(43-45)del	p.L17del	UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000257632.5_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del			Q9BT76	UPK3B_HUMAN	uroplakin 3B	17					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGCAGATGCTCCTCCTGGCGT	0.695													13	28	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100357988	100357991	+	RNA	DEL	TCTC	TCTC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100357988_100357991delTCTC	ENST00000542585.1	+	0	3844				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCTGTCTGTCTCTTGCCTCTGC	0.583													8	72	---	---	---	---					
KCNH2	3757	broad.mit.edu	37	7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150656679delG	ENST00000392968.2	-	1	1285	c.165delC	c.(163-165)ccfs	p.P55fs	KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs|KCNH2_ENST00000262186.5_Frame_Shift_Del_p.P151fs			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCAGCTGGTGGGGGGGCCCC	0.587													7	63	---	---	---	---					
PALM2-AKAP2	0	broad.mit.edu	37	9	112898442	112898442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:112898442delA	ENST00000374530.3	+	8	798	c.618delA	c.(616-618)ctfs	p.L206fs	AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000259318.7_5'UTR|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		197							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATATCTGGCTAAAAAGCGAGG	0.463													12	68	---	---	---	---					
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)acfs	p.T2147fs	TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522													29	222	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118307279	118307281	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118307279_118307281delGGC	ENST00000534358.1	+	1	75_77	c.52_54delGGC	c.(52-54)del	p.G23del	KMT2A_ENST00000389506.5_In_Frame_Del_p.G23del|KMT2A_ENST00000354520.4_In_Frame_Del_p.G23del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GACCAccgggggcggcggcggcg	0.798													2	4	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909636	123909636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:123909636delG	ENST00000330487.5	-	1	81	c.73delC	c.(73-75)tcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATTCCAAAGAGGGGGGCGTCC	0.567													12	80	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:2968088delG	ENST00000342628.2	-	10	2235	c.2122delC	c.(2122-2124)ttfs	p.L708fs	FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577													13	52	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6161823delG	ENST00000261405.5	-	16	2326	c.2072delC	c.(2071-2073)cafs	p.P691fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	691	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTAGAGCCCTGGGGGGCAGAA	0.607													8	72	---	---	---	---					
VAMP1	0	broad.mit.edu	37	12	6579696	6579697	+	Splice_Site	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6579696_6579697insT	ENST00000361716.3	-	1	456_457	c.2_splice	c.e1+1	p.V1_splice	VAMP1_ENST00000396308.3_Splice_Site_p.V1_splice|VAMP1_ENST00000535180.1_Splice_Site_p.V1_splice|VAMP1_ENST00000400911.3_Splice_Site_p.V1_splice|VAMP1_ENST00000544432.1_5'UTR			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	1					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GTCAACTCACATTTTTCTGACA	0.609													7	42	---	---	---	---					
FAM60A	58516	broad.mit.edu	37	12	31448178	31448178	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31448178delT	ENST00000337682.4	-	3	586	c.218delA	c.(217-219)acfs	p.N73fs	FAM60A_ENST00000454658.2_Frame_Shift_Del_p.N73fs|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000395766.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	73										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					ATGATTCCAGTTTTTTTTTGA	0.358													7	14	---	---	---	---					
H3F3C	440093	broad.mit.edu	37	12	31944698	31944699	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31944698_31944699delCT	ENST00000340398.3	-	1	476_477	c.402_403delAG	c.(400-405)agctfs	p.RA134fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCACTTAAGCTCTCTCTCCCC	0.406										HNSCC(67;0.2)			12	68	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49442461	49442462	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49442461_49442462delTC	ENST00000301067.7	-	13	4110_4111	c.4111_4112delGA	c.(4111-4113)cfs	p.D1371fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GACAAATTTGTCTGTGTTGGAG	0.465													35	135	---	---	---	---					
GNPTAB	79158	broad.mit.edu	37	12	102158002	102158002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:102158002delT	ENST00000299314.7	-	13	2955	c.2693delA	c.(2692-2694)agfs	p.K898fs		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	898					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGAAATACTTTTTTTTCTC	0.373													16	82	---	---	---	---					
BTBD11	121551	broad.mit.edu	37	12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:107937778delC	ENST00000280758.5	+	3	1880	c.1352delC	c.(1351-1353)acfs	p.T451fs	BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCAATGGCACCCCCCTGCAC	0.582													11	38	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112650410	112650411	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:112650410_112650411delGT	ENST00000550722.1	-	49	7466_7467	c.7071_7072delAC	c.(7069-7074)ccctfs	p.PP2359fs	HECTD4_ENST00000430131.2_Frame_Shift_Del_p.PP2083fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.PP2333fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCCGGAGGAGGTGGAGTCCCCT	0.520													8	51	---	---	---	---					
CCDC92	80212	broad.mit.edu	37	12	124422214	124422216	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422214_124422216delCTT	ENST00000545135.1	-	3	3630_3632	c.334_336delAAG	c.(334-336)del	p.K112del	CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_In_Frame_Del_p.K129del			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	129										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CCTCCAGGTACTTCTTCTCTCGC	0.537													40	174	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23913031	23913033	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23913031_23913033delTAC	ENST00000382298.3	-	10	5570_5572	c.4982_4984delGTA	c.(4981-4986)acg>a	p.ST1661del	SACS_ENST00000382292.3_In_Frame_Del_p.ST1661del|SACS_ENST00000402364.1_In_Frame_Del_p.ST911del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1661					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTAGCACGTACTACTAACTTC	0.384													8	44	---	---	---	---					
FBXO34	55030	broad.mit.edu	37	14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:55818654delG	ENST00000313833.4	+	2	1791	c.1546delG	c.(1546-1548)ggfs	p.G517fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	517										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGATGCTGCTGGGGGTGACAG	0.488													32	138	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824199	74824199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:74824199delC	ENST00000256362.4	+	2	954	c.713delC	c.(712-714)gcfs	p.A238fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	238					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						CAGTACTTTGCCCCTGTGGTG	0.687													10	71	---	---	---	---					
TMED8	283578	broad.mit.edu	37	14	77808302	77808303	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:77808302_77808303delCT	ENST00000216468.7	-	6	844_845	c.789_790delAG	c.(787-792)aggcfs	p.RG263fs		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	263	GOLD.				transport	integral to membrane		p.G264fs*30(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCCTGGAGCCTCTCTCCACAT	0.609													8	27	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	94088050	94088050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:94088050delA	ENST00000553484.1	+	31	4691	c.4537delA	c.(4537-4539)aafs	p.K1515fs	UNC79_ENST00000393151.2_Frame_Shift_Del_p.K1493fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.K1316fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.K1493fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1493						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						AAGCATTCCGAAAAAAAAGCT	0.398													10	56	---	---	---	---					
ASPG	374569	broad.mit.edu	37	14	104571684	104571684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:104571684delG	ENST00000551177.1	+	10	1162	c.1070delG	c.(1069-1071)cgfs	p.R357fs	ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	357					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.E387fs*2(1)|p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGACCTTCGGGGGGAGATG	0.682													13	56	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25448422	25448422	+	RNA	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:25448422delA	ENST00000424208.1	+	0	2163				SNORD115-18_ENST00000363293.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GTGATGACTTAAAAATCATTC	0.502													13	217	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55621921	55621922	+	Splice_Site	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:55621921_55621922insT	ENST00000164305.5	+	5	813_814		c.e5-1		PIGB_ENST00000539642.1_Splice_Site	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342													16	78	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93480819	93480819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93480819delA	ENST00000394196.4	+	6	1583	c.515delA	c.(514-516)cafs	p.Q172fs	CHD2_ENST00000536619.1_Frame_Shift_Del_p.Q185fs|CHD2_ENST00000420239.2_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.Q172fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	172					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGCCAGAACAAAAAAAAGTA	0.418													8	38	---	---	---	---					
TRAP1	10131	broad.mit.edu	37	16	3727584	3727594	+	Frame_Shift_Del	DEL	AGTAGAAACCC	AGTAGAAACCC	-	rs149991698		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3727584_3727594delAGTAGAAACCC	ENST00000246957.5	-	6	697_707	c.609_619delGGGTTTCTACT	c.(607-621)gtcafs	p.VGFYS203fs	TRAP1_ENST00000538171.1_Frame_Shift_Del_p.VGFYS150fs|TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000573872.1_5'UTR	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	203					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				ATGAAAGCTGAGTAGAAACCCACTCCAAACT	0.592													7	76	---	---	---	---					
PPL	5493	broad.mit.edu	37	16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-	rs147027769		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4944500delG	ENST00000345988.2	-	12	1451	c.1362delC	c.(1360-1362)ccfs	p.P454fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612													17	66	---	---	---	---					
SLC12A4	6560	broad.mit.edu	37	16	67984313	67984315	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67984313_67984315delAAG	ENST00000422611.2	-	11	1581_1583	c.1542_1544delCTT	c.(1540-1545)ttt>tt	p.FF514del	SLC12A4_ENST00000537830.2_In_Frame_Del_p.FF506del|SLC12A4_ENST00000316341.3_In_Frame_Del_p.FF512del|SLC12A4_ENST00000572037.1_In_Frame_Del_p.FF464del|SLC12A4_ENST00000541864.2_In_Frame_Del_p.FF481del|SLC12A4_ENST00000576616.1_In_Frame_Del_p.FF512del|SLC12A4_ENST00000338335.3_In_Frame_Del_p.FF512del	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	512					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACACGTTGAAAAGAAGGAGCCGA	0.621													19	43	---	---	---	---					
DHX38	9785	broad.mit.edu	37	16	72142749	72142749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72142749delC	ENST00000268482.3	+	24	3815	c.3306delC	c.(3304-3306)cafs	p.H1102fs	DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1102					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCACTTGCACCCCACCAGCT	0.527													8	36	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72991758delC	ENST00000268489.5	-	2	2959	c.2287delG	c.(2287-2289)agfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGACCTGCTCCCCCCCTCCA	0.622													21	41	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349355	89349356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89349355_89349356insT	ENST00000301030.4	-	9	4054_4055	c.3594_3595insA	c.(3592-3597)aaagaafs	p.E1199fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1199	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGACTTTCTCTTTTTTGTCTC	0.515													16	100	---	---	---	---					
MYH4	4622	broad.mit.edu	37	17	10360835	10360835	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:10360835delT	ENST00000255381.2	-	16	1909	c.1799delA	c.(1798-1800)acfs	p.N600fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	600	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTCCTTGTTTTTGTCCAG	0.562													11	68	---	---	---	---					
TBC1D26	353149	broad.mit.edu	37	17	15641312	15641313	+	Splice_Site	DEL	AA	AA	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15641312_15641313delAA	ENST00000437605.2	+	6	450_451	c.198_splice	c.e6-1	p.Q67_splice	AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Splice_Site_p.Q67_splice|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	67						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATTTGACAGCAAAGACGCAAGG	0.540													9	48	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15973813	15973815	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15973813_15973815delGTT	ENST00000268712.3	-	31	4434_4436	c.4177_4179delAAC	c.(4177-4179)del	p.N1393del	NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del|NCOR1_ENST00000395857.3_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1393	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATTGACCTGAGTTGTTGTCAAAC	0.448													12	52	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:54428180_54428181insA	ENST00000566473.2	+	4	251_252	c.251_252insA	c.(250-252)taafs	p.*84fs	ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													13	62	---	---	---	---					
TBX4	9496	broad.mit.edu	37	17	59560564	59560565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:59560564_59560565insC	ENST00000393853.4	+	9	1491_1492	c.1328_1329insC	c.(1327-1329)tccfs	p.S443fs	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Frame_Shift_Ins_p.S442fs			P57082	TBX4_HUMAN	T-box 4	442					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TACCAGCCCTTCCCCACGCACT	0.609													13	102	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:56246941delA	ENST00000361673.3	-	4	1280	c.1067delT	c.(1066-1068)tafs	p.L357fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	357							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	56	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16860827	16860827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:16860827delC	ENST00000524140.2	+	6	1792	c.1374delC	c.(1372-1374)tgfs	p.C458fs	NWD1_ENST00000552788.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTCAACTGCCCCCCGAGGG	0.632													18	79	---	---	---	---					
ZNF30	90075	broad.mit.edu	37	19	35435346	35435347	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:35435346_35435347delTT	ENST00000439785.1	+	5	1923_1924	c.1479_1480delTT	c.(1477-1482)acttfs	p.TF493fs	ZNF30_ENST00000303586.7_Frame_Shift_Del_p.TF493fs|ZNF30_ENST00000426813.2_Frame_Shift_Del_p.TF411fs|ZNF30_ENST00000601142.1_Frame_Shift_Del_p.TF492fs|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	492				F -> L (in Ref. 2; CAE45802).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GTGGAAAGACTTTTAGTCGAGC	0.450													12	42	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47424502	47424502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:47424502delT	ENST00000404338.3	+	1	2570	c.2570delT	c.(2569-2571)gtfs	p.V857fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	857					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										GGGTACATTGTTTTTTATTCA	0.433													13	71	---	---	---	---					
SIGLEC6	946	broad.mit.edu	37	19	52034107	52034107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52034107delG	ENST00000346477.3	-	3	602	c.534delC	c.(532-534)ccfs	p.P178fs	SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	178	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGAGAAGATGGGGGGCGTCC	0.662													18	103	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52091407	52091408	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52091407_52091408delCT	ENST00000262259.2	+	5	2181_2182	c.1823_1824delCT	c.(1822-1824)afs	p.T608fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	608					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATCAAATAACTCACACTAGAG	0.436													17	122	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13714387	13714388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13714387_13714388insT	ENST00000202816.1	-	10	2037_2038	c.1930_1931insA	c.(1930-1932)actfs	p.T644fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	644	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTTTCAGTCTTTTTTTCTCT	0.347													9	19	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21142442	21142442	+	RNA	DEL	A	A	-	rs113752643		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:21142442delA	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TCATTTCTGGAAAAAAAAAAA	0.363													6	4	---	---	---	---					
CD93	22918	broad.mit.edu	37	20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)ccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637													19	75	---	---	---	---					
TCFL5	10732	broad.mit.edu	37	20	61492658	61492658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61492658delC	ENST00000335351.3	-	1	457	c.365delG	c.(364-366)gcfs	p.G122fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	122	Ala-rich.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GTCGATGTGGCCCAGGCAGGG	0.786													2	4	---	---	---	---					
CHRNA4	1137	broad.mit.edu	37	20	61981807	61981808	+	Frame_Shift_Ins	INS	-	-	G			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61981807_61981808insG	ENST00000370263.4	-	5	1176_1177	c.955_956insC	c.(955-957)gtcfs	p.V319fs	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	319					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGATGGACAGGGTGACGAAG	0.599													14	90	---	---	---	---					
MORC3	23515	broad.mit.edu	37	21	37741614	37741614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:37741614delA	ENST00000400485.1	+	15	2024	c.1948delA	c.(1948-1950)aafs	p.K651fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	651					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTAGTTGTTAAAAAAGAAGA	0.448													15	68	---	---	---	---					
TEX33	339669	broad.mit.edu	37	22	37387299	37387299	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37387299delT	ENST00000405091.2	-	7	1015	c.764delA	c.(763-765)atfs	p.N255fs	TEX33_ENST00000381821.1_Frame_Shift_Del_p.N255fs|TEX33_ENST00000402860.3_Frame_Shift_Del_p.N170fs			O43247	EAN57_HUMAN	testis expressed 33	255																	GTTCATAGCATTTTTCTGGTG	0.493													7	53	---	---	---	---					
RPL3	6122	broad.mit.edu	37	22	39712828	39712830	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39712828_39712830delCTT	ENST00000216146.4	-	4	555_557	c.382_384delAAG	c.(382-384)del	p.K128del	RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	128					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TGGTAAAGGCCTTCTTCTTAGAT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	80	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418													3	5	---	---	---	---