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
MYOM1	8736	broad.mit.edu	37	18	3094299	3094299	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:3094299G>C	ENST00000400569.3	-	26	4066	c.3733C>G	c.(3733-3735)Cca>Gca	p.P1245A	MYOM1_ENST00000261606.7_Missense_Mutation_p.P1149A|MYOM1_ENST00000356443.4_Missense_Mutation_p.P1245A			P52179	MYOM1_HUMAN	myomesin 1	1245						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATTTAACTGGGACAGCTATG	0.358000													8	13					0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103844611	103844611	+	Silent	SNP	T	T	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:103844611T>C	ENST00000297431.4	-	2	286	c.144A>G	c.(142-144)caA>caG	p.Q48Q	ORC5_ENST00000447452.2_Silent_p.Q48Q|ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	48					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCAACAACGTTTGTGTTACAT	0.303000													23	43					0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179757	100179757	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:100179757G>A	ENST00000310300.6	-	3	451	c.399C>T	c.(397-399)atC>atT	p.I133I	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	133					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGCTGGCAGATGTAGGGTG	0.637000													8	33					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	79					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156685	61156685	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:61156685G>T	ENST00000382771.4	+	4	704	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	SERPINB5_ENST00000489441.1_Missense_Mutation_p.D138Y	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	138					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CTCAATTAAGGATCTCACAGA	0.383000													3	44					0.000602214	0.000630224	1	1	0
MARK3	4140	broad.mit.edu	37	14	103871417	103871417	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:103871417C>G	ENST00000429436.2	+	2	566	c.56C>G	c.(55-57)aCg>aGg	p.T19R	MARK3_ENST00000440884.3_Missense_Mutation_p.T19R|MARK3_ENST00000216288.7_Missense_Mutation_p.T19R|MARK3_ENST00000553942.1_Missense_Mutation_p.T19R|MARK3_ENST00000416682.2_Missense_Mutation_p.T19R|MARK3_ENST00000335102.5_Missense_Mutation_p.T19R|MARK3_ENST00000303622.9_Missense_Mutation_p.T19R	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	19							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTGCAGCACACGTCACATGGA	0.448000													14	30					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33820568	33820568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:33820568G>A	ENST00000403368.1	-	2	259	c.190C>T	c.(190-192)Caa>Taa	p.Q64*	FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q64*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	64										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTAGTTGCTTGCACGTTTTCC	0.393000													20	58					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54557260	54557260	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:54557260C>A	ENST00000251636.5	-	25	4044	c.3896G>T	c.(3895-3897)gGt>gTt	p.G1299V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1299							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TATATCACCACCAAAAAGTAA	0.353000													5	88					0.000602214	0.000630224	1	1	0
USP46	64854	broad.mit.edu	37	4	53494320	53494320	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr4:53494320G>C	ENST00000441222.2	-	3	312	c.128C>G	c.(127-129)aCa>aGa	p.T43R	USP46_ENST00000508499.1_Missense_Mutation_p.T36R|USP46_ENST00000451218.2_Missense_Mutation_p.T16R	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	43					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACAGTAGCATGTGTTTCCAAA	0.517000													6	31					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019333	55019333	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55019333C>T	ENST00000301202.2	+	3	420	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	LAIR2_ENST00000351841.2_Missense_Mutation_p.R100C	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	100	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CGGGCTTTATCGCTGCCTCTA	0.502000													33	65					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102053480	102053480	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:102053480A>G	ENST00000549145.1	+	18	1862	c.1762A>G	c.(1762-1764)Aca>Gca	p.T588A	MYBPC1_ENST00000547509.1_Missense_Mutation_p.T561A|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T549A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T563A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T556A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T575A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T575A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T562A|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T476A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.T600A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.T575A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	575	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCGGATAAGAACAGAATCTTA	0.423000													24	39					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852910	15852910	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502000													4	117					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29682971	29682971	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr22:29682971A>T	ENST00000397938.2	+	7	960	c.641A>T	c.(640-642)tAt>tTt	p.Y214F	EWSR1_ENST00000406548.1_Missense_Mutation_p.Y214F|EWSR1_ENST00000331029.7_Missense_Mutation_p.Y214F|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000414183.2_Missense_Mutation_p.Y220F|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y214F|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y158F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	214	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAACACCTATGGGCAACCG	0.463000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								17	47					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157105317	157105317	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:157105317C>T	ENST00000368192.4	-	3	294	c.230G>A	c.(229-231)gGc>gAc	p.G77D	ETV3_ENST00000326786.4_Missense_Mutation_p.G77D|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	77							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTCCTGCGGCCCCAGAGGCG	0.532000													5	32					0	0	1	0	0
RP11-114H24.2	0	broad.mit.edu	37	15	78217296	78217296	+	RNA	SNP	A	A	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr15:78217296A>G	ENST00000567226.1	-	0	206																											GTGAGTGGCAACCACCAGAAG	0.527000													4	54					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179754	124179754	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:124179754C>T	ENST00000357821.2	-	1	979	c.909G>A	c.(907-909)aaG>aaA	p.K303K		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTACTAAGACCTTCCTTAATG	0.378000													10	31					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30529130	30529130	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr16:30529130G>A	ENST00000356798.6	+	28	3226	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	ITGAL_ENST00000358164.5_Missense_Mutation_p.G932R|ITGAL_ENST00000433423.2_Missense_Mutation_p.G250R	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1016					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTGTCTCCCCGGAGCCCTGTT	0.637000													33	77					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900638	35900638	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:35900638G>T	ENST00000339208.6	-	16	3350	c.3210C>A	c.(3208-3210)caC>caA	p.H1070Q	SYNRG_ENST00000591288.1_Missense_Mutation_p.H864Q|SYNRG_ENST00000346661.4_Missense_Mutation_p.H1070Q|SYNRG_ENST00000585472.1_Missense_Mutation_p.H991Q|SYNRG_ENST00000345615.4_Missense_Mutation_p.H992Q|SYNRG_ENST00000502449.2_Missense_Mutation_p.H947Q|SYNRG_ENST00000394378.2_Missense_Mutation_p.H992Q	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1070					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTCCTCTTGTGTGATCCTG	0.463000													14	52					1.37285e-15	1.54446e-15	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765581	77765581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr8:77765581A>T	ENST00000521891.2	+	10	6872	c.6424A>T	c.(6424-6426)Aaa>Taa	p.K2142*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K2097*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K2116*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K2097*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2097						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGATCAGCTAAAAATCCTGAG	0.423000										HNSCC(33;0.089)			5	21					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208993062	208993062	+	Silent	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:208993062G>A	ENST00000282141.3	-	3	427	c.390C>T	c.(388-390)tgC>tgT	p.C130C		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	130	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGAGGACCCAGCAGCCCTCCA	0.632000													18	35					0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26697015	26697015	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:26697015C>G	ENST00000226218.4	-	2	735	c.117G>C	c.(115-117)caG>caC	p.Q39H	SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	39	SMB.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCTCGTCACACTGGCACTTCT	0.592000													14	26					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003691	44003691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:44003691C>T	ENST00000372726.3	-	4	912	c.756G>A	c.(754-756)tgG>tgA	p.W252*	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W236*|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	252					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGTATGGATGCCACATAGGCA	0.612000													3	67					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3760228	3760228	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:3760228C>T	ENST00000316757.3	-	2	235	c.35G>A	c.(34-36)gGg>gAg	p.G12E		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	12					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622000													4	19					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20942985	20942985	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr14:20942985C>T	ENST00000361505.5	+	4	485	c.339C>T	c.(337-339)gtC>gtT	p.V113V	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	113					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CCCTGGTAGTCACCAATGCAG	0.463000													10	20					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24690706	24690706	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:24690706G>A	ENST00000379145.1	-	1	88	c.44C>T	c.(43-45)gCt>gTt	p.A15V		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	34						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAATTGGGGAGCGCGATTGTC	0.418000													6	27					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													3	52					1	1	1	1	0
RP11-125O5.2	0	broad.mit.edu	37	12	21207529	21207529	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:21207529C>T	ENST00000590779.1	+	1	2	c.2C>T	c.(1-3)tCt>tTt	p.S1F	LST3_ENST00000381541.3_Silent_p.L547L|SLCO1B7_ENST00000421593.2_Silent_p.L500L|SLCO1B7_ENST00000554957.1_Silent_p.L547L|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron																							ATGCTTTCCTCTGTGCAGTTG	0.353000													3	66					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802253	66802253	+	Missense_Mutation	SNP	G	G	A	rs139889939		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:66802253G>A	ENST00000393946.2	+	6	1334	c.172G>A	c.(172-174)Gac>Aac	p.D58N	SYT12_ENST00000527043.1_Missense_Mutation_p.D58N|SYT12_ENST00000525457.1_Missense_Mutation_p.D58N|SYT12_ENST00000526281.1_Intron			Q8IV01	SYT12_HUMAN	synaptotagmin XII	58						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCCAATTACGACTACAGGTA	0.632000													24	47					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(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)		CAGTCAGAGGCGCTATGTGTA	0.348000	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			23	38					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148854057	148854057	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr6:148854057C>T	ENST00000367467.3	+	14	2164	c.1689C>T	c.(1687-1689)acC>acT	p.T563T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	563	SH3.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGTGCACACCGACTTCACCC	0.577000													26	72					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86306932	86306932	+	Silent	SNP	T	T	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:86306932T>C	ENST00000370571.2	-	42	3966	c.3600A>G	c.(3598-3600)ctA>ctG	p.L1200L	COL24A1_ENST00000436319.1_Silent_p.L1200L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1200					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGTGGTCCTAGGACTGTGC	0.333000													14	28					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831315	39831315	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr20:39831315C>A	ENST00000309060.3	-	4	2657	c.2242G>T	c.(2242-2244)Gcc>Tcc	p.A748S	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A748S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A748S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A748S|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A748S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A748S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	748					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTCACAGGCACCCAGCCCT	0.547000													5	68					0.0215528	0.0220426	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40366423	40366423	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:40366423G>A	ENST00000221347.6	-	30	13818	c.13811C>T	c.(13810-13812)gCg>gTg	p.A4604V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4604	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCGCGTACGCCGCCGGCAC	0.682000													18	59					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169847	207169847	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr2:207169847C>T	ENST00000374423.3	+	5	981	c.595C>T	c.(595-597)Cca>Tca	p.P199S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	199							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAACGATAGACCAGTTACAGC	0.408000													14	19					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31838132	31838132	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chrX:31838132C>G	ENST00000357033.4	-	50	7475	c.7269G>C	c.(7267-7269)aaG>aaC	p.K2423N	DMD_ENST00000378677.2_Missense_Mutation_p.K2419N|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2423					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTCAGGCTGCTTTGCCCTCA	0.438000													27	17					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620856	46620856	+	Silent	SNP	C	C	T			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr17:46620856C>T	ENST00000330070.4	-	2	1812	c.645G>A	c.(643-645)ccG>ccA	p.P215P		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	215					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCAGGGCTCCCGGGCAGGCAG	0.711000													3	24					0	0	1	0	0
LILRB4	0	broad.mit.edu	37	19	55175919	55175919	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:55175919T>A	ENST00000391736.1	+	6	953	c.638T>A	c.(637-639)cTg>cAg	p.L213Q	LILRB4_ENST00000391733.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000270452.2_Missense_Mutation_p.L213Q|LILRB4_ENST00000391734.3_Missense_Mutation_p.L213Q|LILRB4_ENST00000430952.2_Missense_Mutation_p.L213Q	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	213	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGTGACCCCCTGGAGCTCATA	0.617000													25	48					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95582869	95582869	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:95582869G>A	ENST00000393223.3	-	11	1408	c.746C>T	c.(745-747)gCc>gTc	p.A249V	MTMR2_ENST00000346299.5_Missense_Mutation_p.A321V|MTMR2_ENST00000352297.7_Missense_Mutation_p.A249V|MTMR2_ENST00000409459.1_Missense_Mutation_p.A249V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	321	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACTTGGCCGGGCATCAAATAT	0.413000													4	131					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103246691	103246691	+	Silent	SNP	C	C	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr12:103246691C>A	ENST00000553106.1	-	7	1216	c.744G>T	c.(742-744)ctG>ctT	p.L248L	PAH_ENST00000307000.2_Silent_p.L243L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	248			L -> P (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAGGAAAGCAGGCCAGCCA	0.537000													15	30					1.3612e-06	1.494e-06	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41077968	41077968	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr19:41077968G>A	ENST00000352632.3	+	34	7449	c.7363G>A	c.(7363-7365)Ggc>Agc	p.G2455S	SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G1198S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G2455S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2455	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGGAACTGGGCTTCTACAA	0.602000													4	251					0	0	1	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													3	4	---	---	---	---					
SNHG12	0	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	A	rs147786269		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr1:28906819_28906820insA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													3	3	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47127717	47127721	+	Frame_Shift_Del	DEL	CGTCA	CGTCA	-	rs148618471		TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr3:47127717_47127721delCGTCA	ENST00000409792.3	-	11	5403_5407	c.5361_5365delTGACG	c.(5359-5367)gggcfs	p.GDG1787fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1787					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTCCCGGCCGTCACCTAGCTCTG	0.478			"""N, F, S, Mis"""		clear cell renal carcinoma								14	34	---	---	---	---					
LCP2	3937	broad.mit.edu	37	5	169677740	169677741	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr5:169677740_169677741delCC	ENST00000046794.5	-	20	2087_2088	c.1472_1473delGG	c.(1471-1473)gfs	p.G491fs	LCP2_ENST00000521416.1_Frame_Shift_Del_p.G286fs|C5orf58_ENST00000517575.1_Intron	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	491	SH2.				immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTACCTCTTTCCCTCGGAGTCC	0.416													28	69	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91700316	91700316	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:91700316delA	ENST00000359028.2	+	29	6866	c.6641delA	c.(6640-6642)gafs	p.E2214fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.E2202fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.E2214fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2214	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GACAGAAAGGAAAAAGAGGTA	0.353			T	BRAF	papillary thyroid								15	49	---	---	---	---					
GAL3ST4	79690	broad.mit.edu	37	7	99757657	99757658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr7:99757657_99757658insC	ENST00000360039.4	-	4	1746_1747	c.1354_1355insG	c.(1354-1356)gcgfs	p.A452fs	GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.A452fs|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.A390fs|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	452					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCTAGGCGCTCACATTCCTCT	0.564													19	37	---	---	---	---					
ARFIP2	23647	broad.mit.edu	37	11	6500446	6500447	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr11:6500446_6500447delGG	ENST00000254584.2	-	4	321_322	c.238_239delCC	c.(238-240)tfs	p.P80fs	ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Frame_Shift_Del_p.P80fs|ARFIP2_ENST00000423813.2_Frame_Shift_Del_p.P42fs|ARFIP2_ENST00000525235.1_Frame_Shift_Del_p.P80fs	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	80					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCATCTCCAGGGCCAGAAGGA	0.525													9	49	---	---	---	---					
ADAMTS7	11173	broad.mit.edu	37	15	79058183	79058184	+	Frame_Shift_Ins	INS	-	-	TGGGTCC			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr15:79058183_79058184insTGGGTCC	ENST00000388820.4	-	19	4279_4280	c.4069_4070insGGACCCA	c.(4069-4071)gggfs	p.-1357fs		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGCTGACCCTTGGGTCCTGGG	0.653													3	5	---	---	---	---					
GATA6	2627	broad.mit.edu	37	18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-V1-A9Z9-01A-21D-A41K-08	TCGA-V1-A9Z9-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc8adf0-d482-4acf-bdec-3b1ec93fa84c	0f9d2e65-a5bb-406e-926b-e7e7d2507d70	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)tac>t	p.YH323del	GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	323					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749													2	4	---	---	---	---