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
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	140					0.000602214	0.000615165	1	1	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	42					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45010992	45010992	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chrX:45010992C>T	ENST00000398000.2	-	5	1281	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	403						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						AGCTGGCTGGCGGCCCCAAGG	0.547000													51	10					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431523	140431523	+	Silent	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr5:140431523C>T	ENST00000306549.3	+	1	545	c.468C>T	c.(466-468)agC>agT	p.S156S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		156	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCAGAGCGCCCAGGATC	0.527000													24	48					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630828	32630828	+	Missense_Mutation	SNP	G	G	A	rs147667610		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:32630828G>A	ENST00000242310.4	-	1	4839	c.4750C>T	c.(4750-4752)Cgg>Tgg	p.R1584W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1584	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAACTCTCCCGACTCTGATAC	0.373000													65	134					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39502528	39502528	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr14:39502528G>C	ENST00000537403.1	-	16	2809	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	SEC23A_ENST00000536508.1_Missense_Mutation_p.S636C|SEC23A_ENST00000545328.2_Missense_Mutation_p.S709C|SEC23A_ENST00000307712.6_Missense_Mutation_p.S738C			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	738					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGGTGCTCCAGACTCCTAGAG	0.328000													39	63					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	69					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	108					0	0	1	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386816	20386816	+	RNA	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr22:20386816A>G	ENST00000430523.3	-	0	1696					NR_003563.1																						GTTTTCTTGGAGACAGTGATG	0.597000													4	7					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107826120	107826120	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chrX:107826120C>T	ENST00000328300.6	+	17	1187	c.943C>T	c.(943-945)Cct>Tct	p.P315S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P315S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	315	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAAGGGTTTGCCTGGTGATCC	0.398000									Alport syndrome with Diffuse Leiomyomatosis				4	89					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21210936	21210936	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr16:21210936G>C	ENST00000574002.1	-	17	2364	c.1882C>G	c.(1882-1884)Cca>Gca	p.P628A	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.P619A|ZP2_ENST00000219593.4_Missense_Mutation_p.P628A			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	628	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAACACAGTGGGGAGTCAGGG	0.453000													15	29					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732352	11732352	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr5:11732352C>T	ENST00000304623.8	-	2	259	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	CTNND2_ENST00000359640.2_Missense_Mutation_p.A24T|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	24					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTCTGAGGCTGATGAAGGC	0.507000													33	42					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74976495	74976495	+	Silent	SNP	G	G	A	rs142012825		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr14:74976495G>A	ENST00000261978.4	-	21	3605	c.3219C>T	c.(3217-3219)ttC>ttT	p.F1073F	LTBP2_ENST00000556690.1_Silent_p.F1073F	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1073	Cys-rich.|EGF-like 9; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGAGCAGGCGAAGGAGCCCT	0.587000													40	62					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184114758	184114758	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr4:184114758G>A	ENST00000403733.3	+	2	337	c.138G>A	c.(136-138)acG>acA	p.T46T	WWC2_ENST00000378925.3_5'UTR|WWC2_ENST00000448232.2_Silent_p.T46T|WWC2_ENST00000513834.1_Silent_p.T46T	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	46										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTAGGTTAACGAAGCCCTTGT	0.468000													15	21					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144778	33144778	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr6:33144778G>A	ENST00000341947.2	-	25	2288	c.2061C>T	c.(2059-2061)gaC>gaT	p.D687D	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.D606D|COL11A2_ENST00000361917.1_Silent_p.D580D|COL11A2_ENST00000357486.1_Silent_p.D666D|COL11A2_ENST00000374708.4_Silent_p.D601D|COL11A2_ENST00000374713.1_Silent_p.D640D|COL11A2_ENST00000395197.1_Silent_p.D627D|COL11A2_ENST00000374714.1_Silent_p.D661D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	687	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCGGGGGTCCGTCTGAGCCAG	0.607000													12	16					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	110					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408453	29408453	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr6:29408453C>T	ENST00000444197.2	+	1	1371	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGGGCGTATCCTCGTTACCAT	0.587000													91	153					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:186106054C>T	ENST00000271588.4	+	87	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4523	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCAGAGTGCCAGTCATAGT	0.398000													4	143					0	0	1	0	0
CTD-2571L23.6	0	broad.mit.edu	37	19	48260380	48260380	+	RNA	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr19:48260380C>T	ENST00000602048.1	-	0	452																											GCAGACTCTGCGTGTCCCCCC	0.607000													15	17					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			47	17					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408575	50408575	+	Silent	SNP	C	C	T	rs147838161		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr20:50408575C>T	ENST00000217086.4	-	2	558	c.447G>A	c.(445-447)gcG>gcA	p.A149A	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000395997.3_Silent_p.A149A|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	149					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A149A(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACAGACTCCGCATCCGGCT	0.572000													118	211					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023385	18023385	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:18023385C>T	ENST00000205890.5	+	2	1609	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	424	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCACAACCCGTATGCCCAC	0.667000													34	65					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21073885	21073885	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr16:21073885T>C	ENST00000261383.3	-	25	3637	c.3638A>G	c.(3637-3639)gAc>gGc	p.D1213G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1213G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1213	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCAGATTGTCTGTAAACTC	0.458000													8	155					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321099	90321099	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:90321099G>A	ENST00000469640.2	+	27	3563	c.3188G>A	c.(3187-3189)cGc>cAc	p.R1063H	DAPK1_ENST00000472284.1_Missense_Mutation_p.R1038H|DAPK1_ENST00000408954.3_Missense_Mutation_p.R1038H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1038H|DAPK1_ENST00000491893.1_Missense_Mutation_p.R972H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1038					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTGGACCCCCGCTGGCTCTGC	0.622000									Chronic Lymphocytic Leukemia, Familial Clustering of				29	46					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17152969	17152969	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr10:17152969C>T	ENST00000377833.4	-	9	1029	c.964G>A	c.(964-966)Gtt>Att	p.V322I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	322	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.V322I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACACTCAACGGGTGGAGCC	0.512000													26	60					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197522	44197522	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr6:44197522A>G	ENST00000393841.1	+	5	799	c.308A>G	c.(307-309)cAt>cGt	p.H103R	SLC29A1_ENST00000393844.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371724.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.H103R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.H182R|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Missense_Mutation_p.H103R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.H103R|SLC29A1_ENST00000371740.5_Missense_Mutation_p.H103R	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	103					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TCCTTCCTGCATCAGAGGTGA	0.592000													19	50					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802371	237802371	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:237802371G>A	ENST00000366574.2	+	46	7302	c.6985G>A	c.(6985-6987)Gag>Aag	p.E2329K	RYR2_ENST00000360064.6_Missense_Mutation_p.E2327K|RYR2_ENST00000542537.1_Missense_Mutation_p.E2313K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2329	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E2327K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGGAGGCCTGAGTGTTTTGG	0.468000													12	19					0	0	1	0	0
OLFM3	118427	broad.mit.edu	37	1	102270333	102270333	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:102270333C>T	ENST00000370103.4	-	6	1051	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.G300S|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	300	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAGAGTGAGCCATTGTAGACA	0.418000													40	72					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60890219	60890219	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr20:60890219C>T	ENST00000252999.3	-	59	7978	c.7912G>A	c.(7912-7914)Gaa>Aaa	p.E2638K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2638	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGGGCTTCAGCAGCCACA	0.662000													13	14					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913393	170913393	+	Silent	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr4:170913393T>C	ENST00000361618.3	-	3	673	c.366A>G	c.(364-366)aaA>aaG	p.K122K	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.K19K	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	122	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CACACGTGTATTTACCTCGGT	0.507000													82	106					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913822	72913822	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr18:72913822G>A	ENST00000322342.3	-	2	972	c.683C>T	c.(682-684)cCc>cTc	p.P228L	ZADH2_ENST00000537114.2_Missense_Mutation_p.P105L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	228						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTACCTACGGGTTCAGTTTT	0.473000													65	104					0	0	1	0	0
PEX13	5194	broad.mit.edu	37	2	61258969	61258969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr2:61258969C>T	ENST00000295030.5	+	2	546	c.508C>T	c.(508-510)Cga>Tga	p.R170*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13		Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TCACTTTTCCCGATTGAAAAT	0.398000													84	134					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038414	75038414	+	Silent	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:75038414A>G	ENST00000326665.5	-	14	3198	c.2980T>C	c.(2980-2982)Ttg>Ctg	p.L994L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	994	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAGGGGCTCAAGCGTGTTTCT	0.537000													33	61					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729212	116729212	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr11:116729212T>C	ENST00000375300.1	-	20	2830	c.2825A>G	c.(2824-2826)tAt>tGt	p.Y942C	SIK3_ENST00000542607.1_Missense_Mutation_p.Y824C|SIK3_ENST00000446921.2_Missense_Mutation_p.Y882C|SIK3_ENST00000292055.4_Missense_Mutation_p.Y884C|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Y723C|SIK3_ENST00000375288.1_Missense_Mutation_p.Y219C			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	884	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CGACGTGGTATAGTGTGGCGG	0.582000													55	77					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077426	3077426	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr16:3077426G>A	ENST00000326266.8	+	12	1166	c.870G>A	c.(868-870)aaG>aaA	p.K290K	THOC6_ENST00000253952.9_Intron|THOC6_ENST00000575576.1_Silent_p.K266K|THOC6_ENST00000574549.1_Silent_p.K266K	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	290					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGGAGCTGAAGGCCCAGGTGC	0.687000													18	42					0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43096926	43096926	+	Silent	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr6:43096926C>T	ENST00000230419.4	+	2	512	c.291C>T	c.(289-291)ggC>ggT	p.G97G	PTK7_ENST00000471863.1_Silent_p.G97G|PTK7_ENST00000352931.2_Silent_p.G97G|PTK7_ENST00000476760.1_Silent_p.G97G|PTK7_ENST00000481273.1_Silent_p.G105G|PTK7_ENST00000345201.2_Silent_p.G97G|PTK7_ENST00000349241.2_Silent_p.G97G	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	97	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGACTCTGGCACCTTCCAGT	0.637000													4	75					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr3:41266101C>T	ENST00000349496.5	+	3	378	c.98C>T	c.(97-99)tCt>tTt	p.S33F	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				18	27					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842240	31842240	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr6:31842240G>A	ENST00000544672.1	-	7	594	c.298C>T	c.(298-300)Cca>Tca	p.P100S	SLC44A4_ENST00000375562.4_Missense_Mutation_p.P134S|SLC44A4_ENST00000229729.6_Missense_Mutation_p.P176S	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	176						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TTCTCACCTGGAGCAGAGGGG	0.517000													18	35					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855879	228855879	+	Missense_Mutation	SNP	G	G	A	rs142164970	byFrequency	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr2:228855879G>A	ENST00000392056.3	-	11	4842	c.4796C>T	c.(4795-4797)aCg>aTg	p.T1599M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1570M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1599						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCTGTTCCCGTAGGCGGTCC	0.557000													28	50					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271469	1271469	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr11:1271469G>A	ENST00000447027.1	+	31	13426	c.13368G>A	c.(13366-13368)ccG>ccA	p.P4456P	MUC5B_ENST00000529681.1_Silent_p.P4453P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4453	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P4453P(1)|p.P4408P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACAGAGCCGAGCACTACAG	0.662000													92	163					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198281577	198281577	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr2:198281577T>C	ENST00000335508.6	-	6	645	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.N185S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGCTGCTCCATTGACGACTTT	0.433000			Mis		myelodysplastic syndrome								110	168					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													5	314					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17366677	17366677	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:17366677T>C	ENST00000380647.3	+	13	2033	c.1949T>C	c.(1948-1950)aTa>aCa	p.I650T	CNTLN_ENST00000262360.5_Missense_Mutation_p.I650T|CNTLN_ENST00000425824.1_Missense_Mutation_p.I650T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	650						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGCAGCAATACAAGAATTG	0.269000													42	70					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744084	140744084	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr5:140744084G>A	ENST00000518069.1	+	1	187	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGCGCGGAGTCCGCAT	0.647000													49	86					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74347162	74347162	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr3:74347162T>G	ENST00000263665.6	-	17	2374	c.2347A>C	c.(2347-2349)Aac>Cac	p.N783H		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	783	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCACCTTTGTTATTATAAACA	0.403000													50	78					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149899	45149899	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr13:45149899T>G	ENST00000458659.2	-	1	802	c.312A>C	c.(310-312)caA>caC	p.Q104H	TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q104H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	104					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCTTTTTCATTTGAGTTCCGC	0.527000													40	62					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872760	40872760	+	Silent	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr19:40872760A>G	ENST00000409587.1	+	5	580	c.183A>G	c.(181-183)gaA>gaG	p.E61E	PLD3_ENST00000409281.1_Silent_p.E61E|PLD3_ENST00000356508.5_Silent_p.E61E|PLD3_ENST00000409419.1_Silent_p.E61E|PLD3_ENST00000409735.4_Silent_p.E61E			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	61					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTATGGGAATACGGCGACT	0.627000													49	79					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436850	10436850	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:10436850G>A	ENST00000245503.5	-	20	2664	c.2280C>T	c.(2278-2280)acC>acT	p.T760T	MYH2_ENST00000397183.2_Silent_p.T760T|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	760	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATTTATACTGGGTGTGGTCAA	0.408000													72	140					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796681	109796681	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr8:109796681C>T	ENST00000297459.3	-	2	825	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	216					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTTCTCCAGGCGCTCCATCTC	0.622000													16	40					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	132					0.000602214	0.000615165	1	1	0
PTEN	5728	broad.mit.edu	37	10	89692794	89692794	+	Missense_Mutation	SNP	A	A	G	rs121909238		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr10:89692794A>G	ENST00000371953.3	+	5	1635	c.278A>G	c.(277-279)cAt>cGt	p.H93R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type.		H -> R (in MCEPHAS).|H -> Y (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGAAGACCATAACCCACCA	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			44	83					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:43587708A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAACCACCATCTCCAAATC	0.348000													5	50					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114989740	114989740	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:114989740A>G	ENST00000334318.6	-	13	1594	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	PTBP3_ENST00000374255.2_Missense_Mutation_p.F467L|PTBP3_ENST00000458258.1_Missense_Mutation_p.F473L|PTBP3_ENST00000374257.1_Missense_Mutation_p.F439L|PTBP3_ENST00000343327.2_Missense_Mutation_p.F372L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	467					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										ATATTCTGGAAGTTTTTAGAG	0.398000													54	80					0	0	1	0	0
SELK	58515	broad.mit.edu	37	3	53922428	53922428	+	Silent	SNP	C	C	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr3:53922428C>A	ENST00000495461.1	-	2	301	c.102G>T	c.(100-102)gtG>gtT	p.V34V	SELK_ENST00000485414.1_5'UTR|SELK_ENST00000541726.1_Silent_p.V34V			Q9Y6D0	SELK_HUMAN		34					response to oxidative stress	endoplasmic reticulum									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ACAACAAAACCACAAACTCAG	0.368000													25	70					4.26978e-12	4.60942e-12	1	1	0
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488000													4	137					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	333006	333006	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr18:333006C>T	ENST00000400256.3	-	7	2161		c.e7+1			NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12						carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGCAGGCATACCTGTTCCTCT	0.373000													32	76					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945693	151945693	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr7:151945693T>C	ENST00000355193.2	-	14	2044	c.1826A>G	c.(1825-1827)cAt>cGt	p.H609R	KMT2C_ENST00000262189.6_Missense_Mutation_p.H609R					lysine (K)-specific methyltransferase 2C																		ATTCACTGTATGTTGGGATGA	0.299000													34	52					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													8	167					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90497392	90497392	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr10:90497392G>T	ENST00000404190.1	+	6	670	c.670G>T	c.(670-672)Gtg>Ttg	p.V224L		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	224					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TATCTTGTAGGTGTTGTTTGG	0.388000													4	189					0.150653	0.152256	1	1	0
ASB4	51666	broad.mit.edu	37	7	95157284	95157284	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr7:95157284C>T	ENST00000325885.5	+	3	718	c.647C>T	c.(646-648)gCc>gTc	p.A216V	ASB4_ENST00000428113.1_Missense_Mutation_p.A216V	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	216					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GCCATCGCCGCCTACTGGGCC	0.617000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	33					0	0	1	0	0
URM1	81605	broad.mit.edu	37	9	131151578	131151578	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr9:131151578G>A	ENST00000452446.1	+	4	289	c.227G>A	c.(226-228)tGg>tAg	p.W76*	URM1_ENST00000372853.4_Nonsense_Mutation_p.W76*|URM1_ENST00000483206.1_3'UTR|URM1_ENST00000372850.1_3'UTR	NM_001135947.2	NP_001129419.1	Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	76					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						GATGCCGACTGGGAGCTACTG	0.582000													28	43					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89725043	89725043	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr10:89725043G>A	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTCTCTAGGTGAAGCTGT	0.333000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			22	28					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697784	86697784	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr15:86697784C>T	ENST00000441037.2	+	3	343	c.248C>T	c.(247-249)gCc>gTc	p.A83V	AGBL1_ENST00000421325.2_Missense_Mutation_p.A83V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	83					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CGTGTGTTTGCCTCCAGTGGT	0.517000													16	32					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969223	118969223	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr10:118969223C>A	ENST00000334549.1	+	3	568	c.568C>A	c.(568-570)Ccg>Acg	p.P190T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	190						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAAGAAAAAACCGGACCCCAA	0.507000													4	131					0.00024832	0.000259235	1	1	0
CXCR1	3577	broad.mit.edu	37	2	219028978	219028978	+	Silent	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr2:219028978G>A	ENST00000295683.2	-	2	1077	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	319					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GCATAGCCAGGATCTTGAGGA	0.502000													54	64					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19687564	19687564	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr21:19687564T>C	ENST00000284885.3	-	17	1964	c.1931A>G	c.(1930-1932)aAg>aGg	p.K644R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	644	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGTCTGCCTTGCATGGCTC	0.413000													25	44					0	0	1	0	0
C14orf1	11161	broad.mit.edu	37	14	76118232	76118232	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr14:76118232C>G	ENST00000256319.6	-	4	670	c.225G>C	c.(223-225)acG>acC	p.T75T	FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	75					sterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|transport vesicle				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		TGTGATAGAGCCTATAAGGAA	0.468000													21	38					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482030	140482030	+	Silent	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr5:140482030C>T	ENST00000231130.2	+	1	1797	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.716000													59	79					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60901657	60901657	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr11:60901657C>A	ENST00000301765.5	-	3	348	c.116G>T	c.(115-117)cGg>cTg	p.R39L		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	39					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TGCCATCTCCCGTTCCAGCTG	0.587000													26	47					2.47511e-08	2.61261e-08	1	1	0
GPATCH8	23131	broad.mit.edu	37	17	42476701	42476701	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:42476701T>C	ENST00000434000.1	-	9	2792	c.2510A>G	c.(2509-2511)gAc>gGc	p.D837G	GPATCH8_ENST00000591680.1_Missense_Mutation_p.D915G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	915	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTGGCATAGTCTGAGTCATC	0.493000													51	85					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	175					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3779715	3779715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr16:3779715G>T	ENST00000262367.5	-	31	6142	c.5333C>A	c.(5332-5334)tCg>tAg	p.S1778*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1740*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1778	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCACCAGCGACTGGATGCA	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						19	34					1.33834e-09	1.42856e-09	1	1	0
FBN3	84467	broad.mit.edu	37	19	8151994	8151994	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr19:8151994G>A	ENST00000600128.1	-	54	7135	c.6721C>T	c.(6721-6723)Cgg>Tgg	p.R2241W	FBN3_ENST00000601739.1_Missense_Mutation_p.R2241W|FBN3_ENST00000270509.2_Missense_Mutation_p.R2241W			Q75N90	FBN3_HUMAN	fibrillin 3	2241	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCAGGGGCCGCATGCCTGGG	0.627000													3	52					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128260	56128260	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr11:56128260G>C	ENST00000303039.3	+	1	570	c.538G>C	c.(538-540)Gat>Cat	p.D180H		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTTTTACTGTGATAATGTTCC	0.343000													43	58					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194186	60194186	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr14:60194186C>T	ENST00000267484.5	-	3	1551	c.1216G>A	c.(1216-1218)Gcg>Acg	p.A406T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	406					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCCGACTCCGCGCTGCTGGCC	0.716000													7	4					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													8	31					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	62					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	29					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688585	1688586	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:1688585_1688586insC	ENST00000344463.4	-	6	960_961	c.739_740insG	c.(739-741)gcafs	p.A247fs	NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Frame_Shift_Ins_p.A247fs|NADK_ENST00000342348.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		AACTCCATGTGCACCCCAGGCC	0.634													2	4	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27107136	27107137	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr1:27107136_27107137delAG	ENST00000324856.7	+	20	7118_7119	c.6747_6748delAG	c.(6745-6750)tcagagfs	p.E2250fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.E2033fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.E1867fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.E578fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2250					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.(2287)fs(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)		AGAACCACTCAGAGTTTACTCT	0.515			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								106	32	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	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	6	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89381266	89381266	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr4:89381266delA	ENST00000264350.3	+	3	563	c.410delA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTACAAGAAAAAAAAATA	0.274													7	79	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37045603	37045606	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr5:37045603_37045606delAACA	ENST00000282516.8	+	37	6901_6904	c.6402_6405delAACA	c.(6400-6405)ctaacafs	p.LT2134fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.LT2134fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2134					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCACTTCTAACAAACAAACCAG	0.338													125	250	---	---	---	---					
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs67432959		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr7:64532452delT	ENST00000426828.1	+	0	1228					NR_033416.1																						atgcccagccttttttttttt	0.408													3	4	---	---	---	---					
USP3	9960	broad.mit.edu	37	15	63880542	63880547	+	In_Frame_Del	DEL	GAGACA	GAGACA	-	rs144197656		TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr15:63880542_63880547delGAGACA	ENST00000268049.7	+	13	1393_1398	c.1069_1074delGAGACA	c.(1069-1074)gagacadel	p.ET357del	USP3_ENST00000539772.1_In_Frame_Del_p.ET130del|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_In_Frame_Del_p.ET335del|USP3_ENST00000558285.1_In_Frame_Del_p.ET362del|USP3_ENST00000380324.3_In_Frame_Del_p.ET379del|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000559711.1_In_Frame_Del_p.ET290del			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	379					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAACTTGATGAGACAGAGTTATATA	0.335													28	76	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	8	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-FJ-A871-01A-11D-A34U-08	TCGA-FJ-A871-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1122dc8a-21f8-419c-9f68-9fe65d73f0c2	3b5b9d79-9558-413d-865d-014824295b0c	g.chrX:44923045_44923048delCTAT	ENST00000377967.4	+	16	1947_1950	c.1906_1909delCTAT	c.(1906-1911)ctatctfs	p.LS636fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								7	6	---	---	---	---					
