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
TLL2	7093	broad.mit.edu	37	10	98144479	98144479	+	Missense_Mutation	SNP	C	C	T	rs141438733		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:98144479C>T	ENST00000357947.3	-	16	2284	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	687	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTTGGCGTCGGGGGACAGG	0.622000													59	100					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50598436	50598436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:50598436G>A	ENST00000341247.4	-	6	912	c.763C>T	c.(763-765)Cga>Tga	p.R255*	LIMA1_ENST00000394943.3_Nonsense_Mutation_p.R255*|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.R95*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	255					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCAGATTTCGTCTACTCTCA	0.423000													52	63					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390403	88390403	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:88390403T>C	ENST00000298699.2	-	5	490	c.310A>G	c.(310-312)Aag>Gag	p.K104E	C12orf50_ENST00000550553.1_Missense_Mutation_p.K104E	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	104										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCAGGGGTCTTTGTCCATAAA	0.289000													9	44					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1087506	1087506	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:1087506G>A	ENST00000441003.2	+	24	3284	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	MUC2_ENST00000359061.5_Missense_Mutation_p.G1086E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1086						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACACGGGTGGGGACTGTGAG	0.652000													15	26					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27172734	27172734	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr9:27172734C>T	ENST00000380036.4	+	5	1191	c.749C>T	c.(748-750)aCg>aTg	p.T250M	TEK_ENST00000519097.1_Missense_Mutation_p.T146M|TEK_ENST00000406359.4_Missense_Mutation_p.T250M	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	250	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGGGAAGGACGTGTGAGAAG	0.433000													3	51					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482180	178482180	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:178482180T>C	ENST00000355689.4	-	1	1514	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	417					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATGGTTTCATCATATTCATT	0.423000													8	240					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587473	55587473	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:55587473G>A	ENST00000333976.4	+	1	388	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTATGACCGCTTCGTGGCC	0.458000													39	124					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103577687	103577687	+	Silent	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:103577687C>A	ENST00000361464.3	-	1	488	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MGEA5_ENST00000357797.5_Silent_p.P31P|MGEA5_ENST00000439817.1_Silent_p.P31P|MGEA5_ENST00000419011.2_Silent_p.P31P|MGEA5_ENST00000370094.3_Silent_p.P31P	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	31					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGCTGCCGGCGGCTCCAGCG	0.726000													8	7					0.000157383	0.000170778	1	1	0
CUEDC2	79004	broad.mit.edu	37	10	104184887	104184887	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:104184887G>A	ENST00000369937.4	-	2	204	c.59C>T	c.(58-60)cCg>cTg	p.P20L		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	20						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTCGGCCTCCGGGAGGTGTGT	0.602000													6	74					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	27					0	0	1	0	0
PIGZ	80235	broad.mit.edu	37	3	196675277	196675277	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:196675277C>A	ENST00000412723.1	-	3	637	c.491G>T	c.(490-492)gGt>gTt	p.G164V	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	164					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GACGTAGGAACCAGACAGCAG	0.617000													8	27					0.000673444	0.000715534	1	1	0
RAB34	83871	broad.mit.edu	37	17	27042713	27042713	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:27042713C>T	ENST00000395245.3	-	5	951	c.325G>A	c.(325-327)Gct>Act	p.A109T	RAB34_ENST00000447716.1_Missense_Mutation_p.A166T|RAB34_ENST00000395243.3_Missense_Mutation_p.A109T|RAB34_ENST00000436730.3_Missense_Mutation_p.A109T|RAB34_ENST00000453384.3_Missense_Mutation_p.A167T|RAB34_ENST00000450529.1_Missense_Mutation_p.A109T|RAB34_ENST00000395242.2_Missense_Mutation_p.A110T|RAB34_ENST00000415040.2_Missense_Mutation_p.A87T|RAB34_ENST00000301043.6_Missense_Mutation_p.A109T	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGCCCAGCGGTATCCCAA	0.547000													5	175					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71942617	71942617	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:71942617G>A	ENST00000298229.2	+	13	1777	c.1573G>A	c.(1573-1575)Gtc>Atc	p.V525I	INPPL1_ENST00000538751.1_Missense_Mutation_p.V283I|INPPL1_ENST00000541756.1_Missense_Mutation_p.V283I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATCAGCCATGTCAGTACGTC	0.562000													29	58					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730001	37730001	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr8:37730001G>A	ENST00000330843.4	-	4	2331	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	773					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGGGAAGAGGGGGCGCCACTT	0.557000													27	61					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100381	27100381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27100381C>T	ENST00000324856.7	+	17	4464	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1365*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q982*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1365	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTATCAACAGCAACAGCAGGT	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								52	99					0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31612853	31612853	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:31612853A>C	ENST00000404765.2	-	10	1528	c.1239T>G	c.(1237-1239)aaT>aaG	p.N413K	BAG6_ENST00000375976.4_Missense_Mutation_p.N413K|BAG6_ENST00000439687.2_Missense_Mutation_p.N413K|BAG6_ENST00000375964.6_Missense_Mutation_p.N419K|BAG6_ENST00000211379.5_Missense_Mutation_p.N413K|BAG6_ENST00000362049.6_Missense_Mutation_p.N413K			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	419	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AGGACTCGACATTGGTAGAAG	0.662000													55	71					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882609	47882609	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:47882609G>A	ENST00000289672.2	-	34	5446	c.5396C>T	c.(5395-5397)gCg>gTg	p.A1799V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1799	PLAT.				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						AATGACGACCGCATATAGCTG	0.483000													3	68					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81946063	81946063	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr14:81946063A>C	ENST00000336735.4	-	20	2184	c.2068T>G	c.(2068-2070)Ttt>Gtt	p.F690V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	690	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATGTCATAAAAACGTTTCGCA	0.383000													11	50					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685220	248685220	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:248685220C>T	ENST00000343414.4	+	1	305	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517000													55	86					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47574183	47574183	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr21:47574183C>T	ENST00000397748.1	-	2	161	c.118G>A	c.(118-120)Gca>Aca	p.A40T	FTCD_ENST00000291670.5_Missense_Mutation_p.A40T|FTCD_ENST00000359679.2_Missense_Mutation_p.A40T|FTCD_ENST00000397746.3_Missense_Mutation_p.A40T|FTCD_ENST00000397743.1_Missense_Mutation_p.A40T|FTCD_ENST00000355384.2_Missense_Mutation_p.A40T|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	40	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAAGGGCCTGCGTCCACATCC	0.677000													3	44					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942529	45942529	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:45942529C>T	ENST00000357632.2	+	3	429	c.249C>T	c.(247-249)acC>acT	p.T83T	CCR9_ENST00000395963.2_Silent_p.T71T|CCR9_ENST00000355983.2_Silent_p.T71T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	83					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGACCATGACCGACATGTTCC	0.507000													12	278					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483940	56483940	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:56483940T>G	ENST00000370765.6	-	23	4999	c.4892A>C	c.(4891-4893)cAc>cCc	p.H1631P	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5303					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)			TTTATGCAAGTGTTCATTTGT	0.348000													21	134					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137521298	137521298	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:137521298G>A	ENST00000394894.3	+	16	2250	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	675					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGCCCTACGGCGGTCACAA	0.507000													45	115					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								38	43					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79204003	79204003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:79204003C>A	ENST00000264895.6	+	12	1577	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	FRAS1_ENST00000264899.6_Nonsense_Mutation_p.C379*|FRAS1_ENST00000325942.6_Nonsense_Mutation_p.C379*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	379	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCCTTGCAAGGTGTGTG	0.532000													7	117					0.00307968	0.00320538	1	1	0
TRMT13	54482	broad.mit.edu	37	1	100613719	100613719	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:100613719T>G	ENST00000370141.2	+	10	1093	c.1087T>G	c.(1087-1089)Tat>Gat	p.Y363D		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		GGAATTCCATTATTTCCAGCG	0.428000													34	9					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530297	245530297	+	Silent	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:245530297C>T	ENST00000407071.2	+	3	1067	c.627C>T	c.(625-627)gcC>gcT	p.A209A	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	209					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAGGCAGCCGGCAGTGAGC	0.657000													4	35					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106890076	106890076	+	Missense_Mutation	SNP	C	C	A	rs139540458		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:106890076C>A	ENST00000379987.2	+	12	1843	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S	NPNT_ENST00000453617.2_Missense_Mutation_p.R560S|NPNT_ENST00000427316.2_Missense_Mutation_p.R573S|NPNT_ENST00000514622.1_Missense_Mutation_p.R514S|NPNT_ENST00000506666.1_Missense_Mutation_p.R544S|NPNT_ENST00000305572.8_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	543	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAAAAAGGCGTGGTCACAC	0.448000													14	16					2.31682e-05	2.56865e-05	1	1	0
SYT2	127833	broad.mit.edu	37	1	202568369	202568369	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:202568369C>T	ENST00000367267.1	-	8	1222	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT2_ENST00000367268.4_Missense_Mutation_p.E344K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	344	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.E344Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AAGGGGATCTCAAAGCTGAAG	0.522000													5	189					0	0	1	0	0
MST1L	0	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:17085189A>G	ENST00000455405.2	-	0	87																		p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572000													3	28					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158401021	158401021	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:158401021G>A	ENST00000243349.7	-	5	1239	c.879C>T	c.(877-879)atC>atT	p.I293I	ACVR1C_ENST00000348328.5_Silent_p.I136I|ACVR1C_ENST00000409680.3_Silent_p.I243I|ACVR1C_ENST00000335450.7_Silent_p.I213I	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	293	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCGCCAGCTTGATCATTCCAG	0.398000													4	117					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr22:35726358C>G	ENST00000382034.5	+	9	925	c.583C>G	c.(583-585)Cga>Gga	p.R195G	TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000449058.2_Missense_Mutation_p.R262G|TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G			O60784	TOM1_HUMAN	target of myb1 (chicken)	262					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537000													88	77					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104783594	104783594	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:104783594C>T	ENST00000357311.3	-	9	1135	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SRPK2_ENST00000393651.3_Missense_Mutation_p.E333K|SRPK2_ENST00000489828.1_Missense_Mutation_p.E322K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	322	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGTTTCACCTCTGGGCAGTAT	0.498000													14	83					0	0	1	0	0
PPP2CA	5515	broad.mit.edu	37	5	133534841	133534841	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:133534841A>T	ENST00000481195.1	-	6	1073	c.793T>A	c.(793-795)Tat>Aat	p.Y265N		NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATAACAATAGTTTGGAGCA	0.373000													11	93					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112813196	112813196	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:112813196G>T	ENST00000283206.4	+	1	397	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	10						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTCGGTAGCCGGGCTCCTGCC	0.761000													2	6					1	1	1	1	0
GPR180	160897	broad.mit.edu	37	13	95273351	95273351	+	Silent	SNP	A	A	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr13:95273351A>G	ENST00000376958.4	+	6	781	c.756A>G	c.(754-756)caA>caG	p.Q252Q		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	252						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCGCTTCCCAAATTCAGATGT	0.373000													9	42					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738051	236738051	+	Silent	SNP	C	C	T	rs142628625	byFrequency	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:236738051C>T	ENST00000366582.3	-	23	3351	c.3237G>A	c.(3235-3237)ccG>ccA	p.P1079P	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTAGACTCTTCGGATCCTCAT	0.423000													27	41					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47447437	47447437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:47447437C>A	ENST00000265562.4	+	6	524	c.447C>A	c.(445-447)tgC>tgA	p.C149*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.C23*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	149	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTCCAGTGCGCAGCCGGCG	0.597000													4	42					0.014758	0.0150532	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	18					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464163	33464163	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:33464163G>A	ENST00000442241.4	-	7	724	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_ENST00000360831.5_Missense_Mutation_p.R187W|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617000													18	32					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117246787	117246787	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:117246787T>A	ENST00000332958.2	+	16	1866	c.1850T>A	c.(1849-1851)tTc>tAc	p.F617Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	617					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCACCAGTTCCCTGCTGGG	0.532000													6	58					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27381396	27381396	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:27381396G>C	ENST00000376087.4	-	4	742	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q193E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	193						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCACCATTTGCTGCTTTTTT	0.323000													6	23					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2374516	2374516	+	Silent	SNP	G	G	A	rs138952710	by1000genomes	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr16:2374516G>A	ENST00000301732.5	-	6	1036	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ABCA3_ENST00000567910.1_Silent_p.S112S|ABCA3_ENST00000382381.3_Silent_p.S112S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	112					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGTCCTTCTCGGAGGGAAAGC	0.587000													23	41					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579720	44579720	+	Silent	SNP	G	G	A			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:44579720G>A	ENST00000289547.4	-	2	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S	NPC1L1_ENST00000423141.1_Silent_p.S92S|NPC1L1_ENST00000381160.3_Silent_p.S92S|NPC1L1_ENST00000546276.1_Silent_p.S92S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	92					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S92S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCTTGGCGGAGCAGCAGG	0.602000													3	51					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106229	27106230	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27106229_27106230delAG	ENST00000324856.7	+	20	6211_6212	c.5840_5841delAG	c.(5839-5841)cfs	p.Q1947fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.Q275fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q1564fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q1730fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.H1949fs*16(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCCAGCACAGAGCCACCGGA	0.530			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								22	137	---	---	---	---					
AC007092.1	0	broad.mit.edu	37	2	58655794	58655796	+	RNA	DEL	TGC	TGC	-	rs10589511		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:58655794_58655796delTGC	ENST00000452840.1	+	0	127																											TCTGTTCGTTtgctgctgctgct	0.700													4	3	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058002	114058003	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:114058002_114058003insG	ENST00000462705.1	-	12	2677_2678	c.1856_1857insC	c.(1855-1857)cgcfs	p.R619fs	ZBTB20_ENST00000474710.1_Frame_Shift_Ins_p.R692fs|ZBTB20_ENST00000393785.2_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000481632.1_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Ins_p.R619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Ins_p.R619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCCC	0.634													19	43	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)del	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													2	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20240579	20240579	+	RNA	DEL	C	C	-			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr19:20240579delC	ENST00000590606.1	-	0	315				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							gccaatgcttctattttaatg	0.338													2	4	---	---	---	---					
