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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BUB1	699	broad.mit.edu	37	2	111399713	111399713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:111399713G>A	uc002tgc.3	-	19	2558	c.2446C>T	c.(2446-2448)Cag>Tag	p.Q816*	BUB1_uc010yxh.2_Nonsense_Mutation_p.Q796*|BUB1_uc010fkb.3_Nonsense_Mutation_p.Q816*	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	816	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACAAATTTCTGTTTATTTTTA	0.358000														36			5		0	0	0.014758	0	0
TBCK	93627	broad.mit.edu	37	4	107163639	107163639	+	Silent	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr4:107163639G>A	uc010ilv.2	-	11	1523	c.1158C>T	c.(1156-1158)tgC>tgT	p.C386C	TBCK_uc003hyb.2_Silent_p.C129C|TBCK_uc003hye.2_Silent_p.C347C|TBCK_uc003hyc.2_Silent_p.C323C|TBCK_uc003hyd.2_Silent_p.C214C|TBCK_uc003hyf.2_Silent_p.C386C	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	386						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTCTTAGCTGGCATAACGACA	0.343000														72			3		0	0	0.115264	0	0
MYO18B	84700	broad.mit.edu	37	22	26400727	26400727	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr22:26400727C>T	uc003abz.1	+	41	6626	c.6376C>T	c.(6376-6378)Cag>Tag	p.Q2126*	MYO18B_uc003aca.1_Nonsense_Mutation_p.Q2007*|MYO18B_uc010guy.1_Nonsense_Mutation_p.Q2008*|MYO18B_uc010guz.1_Nonsense_Mutation_p.Q2006*|MYO18B_uc011aka.1_Nonsense_Mutation_p.Q1280*|MYO18B_uc011akb.1_Nonsense_Mutation_p.Q1639*|MYO18B_uc010gva.1_Nonsense_Mutation_p.Q109*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2126						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCAGCCTGCAGTCCTGGTT	0.532000														77			12		0	0	0.080935	0	0
VPS37B	79720	broad.mit.edu	37	12	123351888	123351888	+	Silent	SNP	T	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:123351888T>G	uc001udl.3	-	3	736	c.633A>C	c.(631-633)ccA>ccC	p.P211P		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	211	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane		p.P211fs*>76(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GCACCGGGGGTGGTGGGGGGG	0.716000														19			4		0	0	0.009096	0	0
ZNF266	10781	broad.mit.edu	37	19	9524367	9524367	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:9524367T>G	uc010dwq.3	-	8	2442	c.1234A>C	c.(1234-1236)Aaa>Caa	p.K412Q	ZNF266_uc002mll.3_Missense_Mutation_p.K412Q|ZNF266_uc002mlm.3_Missense_Mutation_p.K412Q|ZNF266_uc002mln.3_Missense_Mutation_p.K412Q|ZNF266_uc002mlo.3_Missense_Mutation_p.K412Q	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCCCACATTTGACACATTCA	0.433000														45			21		0	0	0.049695	0	0
CAD	790	broad.mit.edu	37	2	27459639	27459639	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:27459639C>A	uc002rji.3	+	26	4499	c.4337C>A	c.(4336-4338)gCc>gAc	p.A1446D	CAD_uc010eyw.3_Missense_Mutation_p.A1383D	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1446	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATCGGGCCAGCCCCTCCTTTG	0.537000														121			35		1.30998e-17	1.5595e-17	0.080422	1	0
GXYLT2	727936	broad.mit.edu	37	3	72957696	72957696	+	Missense_Mutation	SNP	G	A	A	rs142024018	by1000genomes	TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:72957696G>A	uc003dpg.3	+	1	454	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	152					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCTGAAGCCCGAGTTTGATAA	0.418000														31			10		0	0	0.069234	0	0
MYO9B	4650	broad.mit.edu	37	19	17311587	17311587	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:17311587G>T	uc010eak.3	+	25	4664	c.4512G>T	c.(4510-4512)caG>caT	p.Q1504H	MYO9B_uc002nfi.3_Missense_Mutation_p.Q1504H|MYO9B_uc002nfj.1_Missense_Mutation_p.Q1504H|MYO9B_uc002nfl.1_Missense_Mutation_p.Q53H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1504	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTTCCGCCAGATCACCAACG	0.577000														59			18		5.26018e-13	6.16427e-13	0.062417	1	0
FLJ36000	284124	broad.mit.edu	37	17	21904193	21904193	+	RNA	SNP	C	G	G	rs9904221	by1000genomes	TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr17:21904193C>G	uc002gza.2	+	0		c.132C>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cagcctcaggcctgccaggac	0.672000														76			3		0	0	0.009096	0	0
COL6A5	256076	broad.mit.edu	37	3	130174495	130174495	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:130174495G>A	uc010htj.1	+	36	7269	c.6775G>A	c.(6775-6777)Gca>Aca	p.A2259T	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.A298T|COL6A5_uc010htk.1_Missense_Mutation_p.A298T	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2259	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGCAGAAATTGCAAGTCTCAC	0.308000														47			4		0	0	0.009096	0	0
KCNQ2	3785	broad.mit.edu	37	20	62073832	62073832	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr20:62073832A>G	uc002yey.1	-	4	920	c.743T>C	c.(742-744)tTc>tCc	p.F248S	KCNQ2_uc002yez.1_Missense_Mutation_p.F248S|KCNQ2_uc002yfa.1_Missense_Mutation_p.F248S|KCNQ2_uc002yfb.1_Missense_Mutation_p.F248S|KCNQ2_uc011aax.1_Missense_Mutation_p.F248S|KCNQ2_uc002yfc.1_Missense_Mutation_p.F248S	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	248					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)	GTACACCAGGAACGAGGCCAG	0.567000														240			5		0	0	0.014758	0	0
PREX2	80243	broad.mit.edu	37	8	69046477	69046477	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr8:69046477T>C	uc003xxv.1	+	31	3977	c.3950T>C	c.(3949-3951)cTt>cCt	p.L1317P		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1317					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGGTGTTCTTTTTCACTTT	0.458000														101			6		0	0	0.021553	0	0
IGSF3	3321	broad.mit.edu	37	1	117131439	117131439	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:117131439C>T	uc001egq.1	-	8	3082	c.2377G>A	c.(2377-2379)Gag>Aag	p.E793K	IGSF3_uc001egr.1_Missense_Mutation_p.E773K|IGSF3_uc001egs.1_Missense_Mutation_p.E446K	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	773	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGACCTCGGCTCTCTGG	0.627000														22			7		0	0	0.047766	0	0
DNAH1	25981	broad.mit.edu	37	3	52398951	52398951	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:52398951A>G	uc011bef.2	+	33	5695	c.5434A>G	c.(5434-5436)Atc>Gtc	p.I1812V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1812					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)		GTTTCCCACCATCAAGGAGGA	0.612000														57			27		0	0	0.099896	0	0
RDH11	51109	broad.mit.edu	37	14	68157017	68157017	+	Silent	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr14:68157017G>A	uc001xjv.4	-	4	666	c.576C>T	c.(574-576)ggC>ggT	p.G192G	RDH11_uc001xjx.4_Intron|RDH11_uc001xjw.4_Silent_p.G179G	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	192					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	AGAATTTCTCGCCCTGCAGGT	0.517000														55			22		0	0	0.083992	0	0
BC073927	0	broad.mit.edu	37	11	71513938	71513938	+	RNA	SNP	T	A	A	rs139766133	by1000genomes	TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:71513938T>A	uc001oqx.1	-	2		c.662A>T								Homo sapiens cDNA clone IMAGE:5297769.																		GGCAAACAGCTCCTGAACATG	0.582000														35			3		0	0	0.014758	0	0
ARID1A	8289	broad.mit.edu	37	1	27106982	27106982	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:27106982T>C	uc001bmv.1	+	19	6966	c.6593T>C	c.(6592-6594)tTc>tCc	p.F2198S	ARID1A_uc001bmu.1_Missense_Mutation_p.F1981S|ARID1A_uc001bmx.1_Missense_Mutation_p.F1044S|ARID1A_uc009vsm.1_Missense_Mutation_p.F526S|ARID1A_uc009vsn.1_Missense_Mutation_p.F440S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2198					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	SWI/SNF complex|nBAF complex|npBAF 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)		CTCCTGGGCTTCCTAGAGGAC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									83			13		0	0	0.105934	0	0
SLMAP	7871	broad.mit.edu	37	3	57898917	57898917	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:57898917G>T	uc003dje.1	+	18	2207	c.2002G>T	c.(2002-2004)Gca>Tca	p.A668S	SLMAP_uc003djd.1_Missense_Mutation_p.A651S|SLMAP_uc003djf.1_Missense_Mutation_p.A630S|SLMAP_uc003djg.1_Missense_Mutation_p.A262S|SLMAP_uc011bez.1_Missense_Mutation_p.A136S|SLMAP_uc011bfa.1_Missense_Mutation_p.A202S|SLMAP_uc003djh.3_Missense_Mutation_p.A161S|SLMAP_uc003dji.1_Missense_Mutation_p.A202S|SLMAP_uc011bfb.1_Missense_Mutation_p.A202S|SLMAP_uc011bfc.1_Missense_Mutation_p.A161S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	668					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GGAATGGAATGCATTGGAAAC	0.338000														69			16		2.23348e-06	2.50017e-06	0.146539	1	0
SLC26A8	116369	broad.mit.edu	37	6	35949921	35949921	+	Silent	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr6:35949921C>T	uc003olm.3	-	7	1113	c.1002G>A	c.(1000-1002)acG>acA	p.T334T	SLC26A8_uc003oll.3_Silent_p.T229T|SLC26A8_uc003oln.3_Silent_p.T334T	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	334					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTCAATAAGCGTCTGGCTGG	0.423000														89			19		0	0	0.038395	0	0
NTNG1	22854	broad.mit.edu	37	1	107937850	107937850	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:107937850C>A	uc001dvh.4	+	3	1680	c.962C>A	c.(961-963)aCt>aAt	p.T321N	NTNG1_uc001dvc.4_Missense_Mutation_p.T321N|NTNG1_uc010out.2_Missense_Mutation_p.T321N|NTNG1_uc001dvf.4_Missense_Mutation_p.T321N|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.T321N	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	321	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGCACAACACTACAGGTCCA	0.493000														153			33		1.80694e-10	2.08493e-10	0.144211	1	0
UMODL1	89766	broad.mit.edu	37	21	43505425	43505425	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr21:43505425C>T	uc002zag.1	+	3	506	c.506C>T	c.(505-507)tCc>tTc	p.S169F	UMODL1_uc002zad.1_Missense_Mutation_p.S97F|UMODL1_uc002zae.1_Missense_Mutation_p.S97F|UMODL1_uc002zaf.1_Missense_Mutation_p.S169F|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	169						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTGTGGGCTCCTGGTACAAC	0.537000														134			28		0	0	0.116897	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971040	118971040	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:118971040C>T	uc001pvi.3	-	3	995	c.575G>A	c.(574-576)gGc>gAc	p.G192D	DPAGT1_uc001pvj.3_Missense_Mutation_p.G85D|DPAGT1_uc001pvk.3_Missense_Mutation_p.G20D|DPAGT1_uc001pvm.1_Missense_Mutation_p.G85D|DPAGT1_uc010rza.2_Missense_Mutation_p.G85D	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	192					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCCTCTAGGCCGTTAATTCC	0.507000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			22		0	0	0.091800	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	Missense_Mutation	SNP	G	A	A	rs140118179	by1000genomes	TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr22:21829507G>A	uc002zuv.4	-	13	3895	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542000														11			8		0	0	0.058154	0	0
SELL	6402	broad.mit.edu	37	1	169677647	169677647	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:169677647C>T	uc010pls.2	-	0	351	c.242G>A	c.(241-243)tGc>tAc	p.C81Y	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.C141Y|SELL_uc001ggl.2_Missense_Mutation_p.C141Y	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	128	C-type lectin.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.P81P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GATCTCCACGCAGTCCTCCTT	0.488000														55			23		0	0	0.062417	0	0
CLCN4	1183	broad.mit.edu	37	X	10162970	10162970	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chrX:10162970C>G	uc004csy.4	+	4	694	c.264C>G	c.(262-264)atC>atG	p.I88M	CLCN4_uc011mid.2_5'UTR	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	88						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGGGTCATCGATCTCGCCG	0.572000														73			3		0	0	0.115264	0	0
ZNF561	93134	broad.mit.edu	37	19	9721627	9721627	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:9721627G>A	uc002mlu.3	-	5	915	c.710C>T	c.(709-711)tCt>tTt	p.S237F	ZNF561_uc010dwu.3_Missense_Mutation_p.S168F|ZNF561_uc010xkr.2_Missense_Mutation_p.S101F	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TAGGTGTGAAGAAGCTGTGAC	0.373000														81			21		0	0	0.062417	0	0
CUBN	8029	broad.mit.edu	37	10	16918967	16918967	+	Missense_Mutation	SNP	G	A	A	rs143741363		TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr10:16918967G>A	uc001ioo.3	-	56	9087	c.9035C>T	c.(9034-9036)cCg>cTg	p.P3012L	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.P368L	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3012	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCAGAACCGGCCCAGCGAT	0.483000														84			17		0	0	0.033300	0	0
SP4	6671	broad.mit.edu	37	7	21468915	21468915	+	Silent	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:21468915G>A	uc003sva.3	+	2	313	c.132G>A	c.(130-132)caG>caA	p.Q44Q	SP4_uc003svb.3_Intron	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	44					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q44*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGGACTCTCAGCCCTCTCCTC	0.483000														42			7		0	0	0.038147	0	0
DGKA	1606	broad.mit.edu	37	12	56346149	56346149	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:56346149C>G	uc001sij.3	+	19	1941	c.1677C>G	c.(1675-1677)ttC>ttG	p.F559L	DGKA_uc001sii.1_Missense_Mutation_p.F417L|DGKA_uc009zod.1_Missense_Mutation_p.F478L|DGKA_uc001sik.3_Missense_Mutation_p.F559L|DGKA_uc001sil.3_Missense_Mutation_p.F559L|DGKA_uc001sim.3_Missense_Mutation_p.F559L|DGKA_uc001sin.3_Missense_Mutation_p.F559L|DGKA_uc009zof.3_Missense_Mutation_p.F205L|DGKA_uc001sio.3_Missense_Mutation_p.F301L	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TATGGTACTTCGAATTTGCCA	0.478000														97			48		0	0	0.139131	0	0
MACF1	23499	broad.mit.edu	37	1	39775962	39775962	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:39775962C>A	uc021olt.1	+	23	3029	c.2977C>A	c.(2977-2979)Ctt>Att	p.L993I	MACF1_uc021ols.1_Missense_Mutation_p.L993I|MACF1_uc001cdc.2_Missense_Mutation_p.L993I|MACF1_uc001cda.1_Missense_Mutation_p.L901I|MACF1_uc009vvq.1_Missense_Mutation_p.L50I|MACF1_uc001cdb.1_Missense_Mutation_p.L80I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	993					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGAAGAACCTTCAGGCCCA	0.463000														39			9		3.86212e-05	4.25969e-05	0.069234	1	0
NUP214	8021	broad.mit.edu	37	9	134020018	134020018	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr9:134020018G>T	uc004cag.3	+	11	1757	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	NUP214_uc004cah.3_Missense_Mutation_p.G549V|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Missense_Mutation_p.G549V|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	549	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTCTCCTTTGGATCATCTGGT	0.537000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									68			22		4.54149e-19	5.49373e-19	0.069288	1	0
HTT	3064	broad.mit.edu	37	4	3124641	3124641	+	Silent	SNP	T	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr4:3124641T>C	uc021xkv.1	+	9	1444	c.1299T>C	c.(1297-1299)ccT>ccC	p.P433P		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	433					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		CATGCAGCCCTGTCCTTTCAA	0.348000														134			3		0	0	0.115264	0	0
MAOB	4129	broad.mit.edu	37	X	43702915	43702915	+	Splice_Site	SNP	C	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chrX:43702915C>G	uc004dfz.4	-	2	317	c.141_splice	c.e2+1	p.R47_splice	MAOB_uc011mkx.2_Splice_Site_p.R31_splice|MAOB_uc011mky.2_Splice_Site_p.R31_splice|MAOB_uc010nhj.3_Splice_Site_p.R47_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	47	Arg/Lys-rich (basic).				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TAATGCCTTACCCTAAGAGTG	0.478000														10			9		0	0	0.093190	0	0
ANKRD36	375248	broad.mit.edu	37	2	97884950	97884950	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:97884950A>G	uc010yva.2	+	65	4166	c.3922A>G	c.(3922-3924)Acc>Gcc	p.T1308A	ANKRD36_uc002sxr.1_Missense_Mutation_p.T133A	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1308										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GAATACAGCCACCAAAATGAA	0.333000														5			3		0	0	0.014758	0	0
ZNF521	25925	broad.mit.edu	37	18	22806306	22806306	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr18:22806306A>C	uc002kvk.2	-	3	1823	c.1576T>G	c.(1576-1578)Tct>Gct	p.S526A	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.S526A|ZNF521_uc002kvl.2_Missense_Mutation_p.S306A	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	526					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)					TCCAGGGAAGAGTCAGTGAGA	0.463000			T	PAX5	ALL									87			29		0	0	0.108266	0	0
RFX7	64864	broad.mit.edu	37	15	56387238	56387238	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr15:56387238C>G	uc010bfn.3	-	8	2688	c.2688G>C	c.(2686-2688)caG>caC	p.Q896H	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q710H	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	799					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTGACATTTGCTGCTCCATAA	0.418000														54			13		0	0	0.105934	0	0
TTI1	9675	broad.mit.edu	37	20	36612011	36612011	+	Silent	SNP	T	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr20:36612011T>A	uc002xhl.3	-	8	3326	c.3117A>T	c.(3115-3117)ccA>ccT	p.P1039P	TTI1_uc002xhm.3_Silent_p.P1039P	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	1039							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						AGGTGGAGTCTGGGTCCACCT	0.617000														41			5		0	0	0.014758	0	0
VWA3B	200403	broad.mit.edu	37	2	98744846	98744846	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr2:98744846G>T	uc002syo.3	+	5	1111	c.847G>T	c.(847-849)Gat>Tat	p.D283Y	VWA3B_uc010yvh.2_Missense_Mutation_p.D133Y|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.D283Y|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	283										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTCTAAAGGATCTGAGTGC	0.527000														49			13		0.000151284	0.00016444	0.105934	1	0
MKL1	57591	broad.mit.edu	37	22	40814880	40814880	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr22:40814880C>T	uc003ayv.1	-	8	1769	c.1562G>A	c.(1561-1563)cGc>cAc	p.R521H	MKL1_uc010gyf.1_Missense_Mutation_p.R471H|MKL1_uc003ayw.1_Missense_Mutation_p.R521H|MKL1_uc010gye.1_Missense_Mutation_p.R521H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	521					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						GTCCTTGTCGCGCCCCTCTAG	0.682000			T	RBM15	acute megakaryocytic leukemia									62			17		0	0	0.049695	0	0
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:134133231T>C	uc003vrp.1	-	5	641	c.567A>G	c.(565-567)ccA>ccG	p.P189P		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	189					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532000														28			7		0	0	0.029380	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651052	8651052	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:8651052G>T	uc002mkj.1	-	21	2888	c.2614C>A	c.(2614-2616)Ctg>Atg	p.L872M	ADAMTS10_uc002mki.1_Missense_Mutation_p.L359M|ADAMTS10_uc002mkk.1_Missense_Mutation_p.L504M	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	872	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L872M(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTTTGGGCAGCTTGCTGTGG	0.672000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			6		0.00116845	0.00123427	0.021553	1	0
RGP1	9827	broad.mit.edu	37	9	35751270	35751270	+	Silent	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr9:35751270G>A	uc011lpf.2	+	5	643	c.495G>A	c.(493-495)caG>caA	p.Q165Q	GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|DQ589555_uc022bgn.1_5'Flank	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA.	165										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGCCTTCAGGATGTCCGGT	0.498000														249			70		0	0	0.139131	0	0
EMILIN3	90187	broad.mit.edu	37	20	39993715	39993715	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr20:39993715G>A	uc002xjy.1	-	1	474	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	84	EMI.					proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTACACTGCCGGTATTCAGCC	0.577000														99			3		0	0	0.009096	0	0
CCDC132	55610	broad.mit.edu	37	7	92932848	92932848	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:92932848A>G	uc003umo.3	+	16	1566	c.1438A>G	c.(1438-1440)Atc>Gtc	p.I480V	CCDC132_uc003ump.3_Missense_Mutation_p.I450V|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.I200V	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	480										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTCAGCATCTTGCAACT	0.308000														167			38		0	0	0.117977	0	0
SH2B2	10603	broad.mit.edu	37	7	101943829	101943829	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:101943829G>A	uc011kko.2	+	1	169	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	571					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CGATGGGACGGAAGCCATGAA	0.701000														38			11		0	0	0.093190	0	0
FASN	2194	broad.mit.edu	37	17	80041413	80041413	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr17:80041413A>C	uc002kdu.3	-	30	5438	c.5321T>G	c.(5320-5322)cTt>cGt	p.L1774R	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1774	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTTCTGAGAAAGGTCGAATTT	0.637000														74			9		0	0	0.058154	0	0
OR8J3	81168	broad.mit.edu	37	11	55904466	55904466	+	Silent	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:55904466C>T	uc010riz.2	-	0	729	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S243S(2)|p.A242T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTATCATATGCGAAGCGCAGG	0.403000														83			24		0	0	0.076483	0	0
HIVEP3	59269	broad.mit.edu	37	1	41976755	41976755	+	Silent	SNP	G	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr1:41976755G>C	uc001cgz.4	-	8	7801	c.6588C>G	c.(6586-6588)ccC>ccG	p.P2196P	HIVEP3_uc001cha.4_Silent_p.P2195P|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2196					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)				TCCCACCGATGGGAATCAAGG	0.667000														86			17		0	0	0.043863	0	0
NFXL1	152518	broad.mit.edu	37	4	47901107	47901107	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr4:47901107G>A	uc010igh.3	-	6	1034	c.857C>T	c.(856-858)aCa>aTa	p.T286I	NFXL1_uc003gxp.3_Missense_Mutation_p.T286I|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.T286I	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	286						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACAAGTAGTTGTGACCATCTT	0.388000														39			9		0	0	0.058154	0	0
SMC1A	8243	broad.mit.edu	37	X	53407985	53407985	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chrX:53407985A>T	uc004dsg.3	-	22	3530	c.3461T>A	c.(3460-3462)gTc>gAc	p.V1154D	SMC1A_uc011moe.2_Missense_Mutation_p.V1132D	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	1154	Ala/Asp-rich (DA-box).				DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCATCCAGGACGAAGAAGGG	0.632000														30			22		0	0	0.083992	0	0
WSCD2	9671	broad.mit.edu	37	12	108589975	108589975	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:108589975G>C	uc001tms.3	+	1	1110	c.366G>C	c.(364-366)gaG>gaC	p.E122D	WSCD2_uc001tmt.3_Missense_Mutation_p.E122D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	122						integral to membrane		p.R121L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TTGTCCGGGAGAAGGAGGAAG	0.562000														28			18		0	0	0.043863	0	0
ZNF236	7776	broad.mit.edu	37	18	74622686	74622686	+	Silent	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr18:74622686C>T	uc002lmi.3	+	15	2916	c.2718C>T	c.(2716-2718)agC>agT	p.S906S	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	906					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGATTCCAGCACACTTGAGT	0.493000														85			25		0	0	0.076483	0	0
FAM135B	51059	broad.mit.edu	37	8	139164987	139164987	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr8:139164987C>G	uc003yuy.3	-	12	1902	c.1731G>C	c.(1729-1731)gaG>gaC	p.E577D	FAM135B_uc003yux.3_Missense_Mutation_p.E478D|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E139D|FAM135B_uc003yvb.3_Missense_Mutation_p.E139D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	577								p.H576N(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCTCCTACTCTCATGCTGAG	0.483000										HNSCC(54;0.14)				245			6		0	0	0.021553	0	0
ACADSB	36	broad.mit.edu	37	10	124793900	124793900	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr10:124793900C>T	uc001lhb.3	+	1	188	c.71C>T	c.(70-72)tCt>tTt	p.S24F	ACADSB_uc010qub.2_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	24					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACTTGTTTGTCTTCTTGGAAG	0.363000														107			26		0	0	0.144211	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549686	46549686	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr13:46549686C>A	uc010tfw.1	-	10	2206	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	ZC3H13_uc001vas.1_Missense_Mutation_p.D734Y|ZC3H13_uc001vat.1_Missense_Mutation_p.D734Y	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	734	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgctctcGATCGTGGTCTCGG	0.498000														12			3		0.004672	0.0048	0.115264	1	0
UBE2R2	54926	broad.mit.edu	37	9	33900238	33900238	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr9:33900238T>A	uc003ztm.3	+	2	905	c.331T>A	c.(331-333)Tct>Act	p.S111T		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2R 2 (UBE2R2), mRNA.	111					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AGAACTGCCTTCTGAAAGGTG	0.383000														96			28		0	0	0.045705	0	0
ACAA1	30	broad.mit.edu	37	3	38167081	38167092	+	In_Frame_Del	DEL	TGAGCAGCGTGA	-	-	rs138308587	byFrequency	TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:38167081_38167092delTGAGCAGCGTGA	uc003cht.3	-	10	1370_1381	c.1163_1174delTCACGCTGCTCA	c.(1162-1176)atcacgctgctcaat>aat	p.ITLL388del	ACAA1_uc003chu.3_In_Frame_Del_p.ITLL295del	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	388					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TTCAGCTCATTGAGCAGCGTGATGACCTGTCG	0.618													---	82	---	---	13	---					
GBE1	2632	broad.mit.edu	37	3	81698998	81698998	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr3:81698998delA	uc021xav.1	-	3	786	c.504delT	c.(502-504)ggtfs	p.G168fs	GBE1_uc021xax.1_Frame_Shift_Del_p.G127fs	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	168					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCACATTATCACCTTCACGAA	0.348									Glycogen Storage Disease, type IV				---	49	---	---	11	---					
PSD2	84249	broad.mit.edu	37	5	139193812	139193812	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr5:139193812delG	uc003leu.1	+	3	1084	c.879delG	c.(877-879)gagfs	p.E293fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	293	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S292*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632													---	145	---	---	27	---					
STAG3	10734	broad.mit.edu	37	7	99779767	99779767	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr7:99779767delT	uc003utx.1	+	2	326	c.171delT	c.(169-171)aatfs	p.N57fs	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Frame_Shift_Del_p.N57fs	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	57					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCTTGAATCGCAATGTGA	0.438													---	62	---	---	10	---					
LGR4	55366	broad.mit.edu	37	11	27390335	27390336	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr11:27390335_27390336insA	uc001mrj.4	-	17	2419_2420	c.1934_1935insT	c.(1933-1935)ttafs	p.L645fs	LGR4_uc001mrk.4_Frame_Shift_Ins_p.L621fs	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	645						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTTTGCAGATAAGCTTCTTTC	0.431													---	93	---	---	21	---					
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:11461597delC	uc001qzf.1	-	2	354	c.320delG	c.(319-321)ggafs	p.G107fs	PRB4_uc001qzt.3_Frame_Shift_Del_p.G107fs	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612										HNSCC(22;0.051)			---	663	---	---	116	---					
MLL2	8085	broad.mit.edu	37	12	49443557	49443558	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr12:49443557_49443558delAT	uc001rta.4	-	10	3813_3814	c.3813_3814delAT	c.(3811-3816)ctattgfs	p.L1271fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1271					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCATCGCACAATAGTGAGTCAT	0.609			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			---	136	---	---	24	---					
MGAT2	4247	broad.mit.edu	37	14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr14:50089217_50089220delCTAA	uc001wwr.3	+	0	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.L411fs	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	411					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													---	100	---	---	8	---					
CYFIP1	23191	broad.mit.edu	37	15	22929873	22929873	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr15:22929873delA	uc001yus.3	+	5	651	c.547delA	c.(547-549)aacfs	p.N183fs	CYFIP1_uc001yut.3_Frame_Shift_Del_p.N183fs|CYFIP1_uc010aya.1_Frame_Shift_Del_p.N211fs	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	183					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGTGTGAAGAACGACCACTC	0.572													---	49	---	---	9	---					
SBSN	374897	broad.mit.edu	37	19	36018286	36018286	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5880-01A-11D-1589-08	TCGA-BQ-5880-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc77da41-c3ab-470a-9835-cd90efad8943	0e3be903-bd00-42d6-8510-f71f823a5f29	g.chr19:36018286delC	uc002oad.2	-	0	968	c.898delG	c.(898-900)gccfs	p.A300fs	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	173						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATGGTGGGCCCCCTGGCCA	0.637													---	4	---	---	2	---					
