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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
CSGALNACT2	55454	broad.mit.edu	37	10	43654238	43654238	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:43654238G>A	uc001jan.3	+	2	1072	c.737G>A	c.(736-738)aGa>aAa	p.R246K	CSGALNACT2_uc001jam.1_Missense_Mutation_p.R246K	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	246					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGGAATATAGACATGTGACC	0.393													0	1	0	0	0	75	19
HR	55806	broad.mit.edu	37	8	21984718	21984718	+	Missense_Mutation	SNP	T	C	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:21984718T>C	uc003xas.3	-	2	1902	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	HR_uc003xat.3_Missense_Mutation_p.R413G	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	413							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTGCCTGCCCTTTTGAGGGCC	0.662													0	1	0	0	0	101	3
CX3CL1	6376	broad.mit.edu	37	16	57416149	57416149	+	Silent	SNP	C	T	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57416149C>T	uc002eli.3	+	2	466	c.399C>T	c.(397-399)ggC>ggT	p.G133G		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	133	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGCCACAGGCGAAAGCAGTA	0.667													0	1	0	0	0	37	14
NLRC5	84166	broad.mit.edu	37	16	57115523	57115523	+	Splice_Site	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr16:57115523G>A	uc021tiu.1	+	47	5616	c.5489_splice	c.e47+1	p.R1830_splice	NLRC5_uc010ccr.1_Splice_Site|NLRC5_uc010ccs.1_Splice_Site|NLRC5_uc002eko.1_Splice_Site|NLRC5_uc002ekq.1_Splice_Site_p.R372_splice|NLRC5_uc002ekr.1_Splice_Site_p.R717_splice	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1830					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAGTCATCCGGTAACAGAGGC	0.627													0	1	0	0	0	132	4
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	G	G			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr4:146059041A>G	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478													0	1	0	0	0	156	3
HPS1	3257	broad.mit.edu	37	10	100189379	100189379	+	Silent	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189379G>A	uc021pwv.1	-	9	1134	c.888C>T	c.(886-888)ctC>ctT	p.L296L	HPS1_uc009xwb.3_Non-coding_Transcript|HPS1_uc010qph.1_Silent_p.L296L|HPS1_uc001kpl.3_Silent_p.L296L	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	296					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		ACTCCTCAGGGAGGGAGAAGC	0.597									Hermansky-Pudlak syndrome				0	1	0	0	0	45	12
STK32B	55351	broad.mit.edu	37	4	5500727	5500727	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr4:5500727G>A	uc003gih.1	+	11	1226	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	STK32B_uc010ida.1_Missense_Mutation_p.G341R	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	388							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGCCGAGGGGGAGGCCAGGC	0.627													0	1	0	0	0	55	3
HPS1	3257	broad.mit.edu	37	10	100189563	100189563	+	Silent	SNP	C	T	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:100189563C>T	uc021pwv.1	-	8	1098	c.852G>A	c.(850-852)ggG>ggA	p.G284G	HPS1_uc009xwb.3_Intron|HPS1_uc010qph.1_Silent_p.G284G|HPS1_uc001kpl.3_Silent_p.G284G	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	284					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGCAGAGCTCCCCCCAGTTG	0.692									Hermansky-Pudlak syndrome				0	1	0	0	0	192	38
HHEX	3087	broad.mit.edu	37	10	94452181	94452181	+	Missense_Mutation	SNP	G	T	T			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:94452181G>T	uc001kid.3	+	1	481	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	140					B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AAGGAAAGGCGGCCAGGTGAG	0.587													2.22E-08	1	1.97E-08	0	1	59	20
SIPA1L1	26037	broad.mit.edu	37	14	72055315	72055315	+	Silent	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr14:72055315G>A	uc001xms.3	+	1	1087	c.726G>A	c.(724-726)aaG>aaA	p.K242K	SIPA1L1_uc001xmt.3_Silent_p.K242K|SIPA1L1_uc001xmu.3_Silent_p.K242K|SIPA1L1_uc001xmv.3_Silent_p.K242K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	242					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCAACCAAGCTCAGTGACT	0.423													0	1	0	0	0	60	6
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	C	C			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr12:120568522G>C	uc001txo.3	-	55	7612	c.7599C>G	c.(7597-7599)ggC>ggG	p.G2533G		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2533					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612													0	1	0	0	0	95	23
C10orf90	118611	broad.mit.edu	37	10	128193324	128193324	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr10:128193324G>A	uc010qum.2	-	3	766	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	C10orf90_uc001ljp.3_Missense_Mutation_p.P102S|C10orf90_uc001ljq.3_Missense_Mutation_p.P149S|C10orf90_uc009yao.2_Missense_Mutation_p.P246S|C10orf90_uc001ljs.1_Missense_Mutation_p.P102S	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	149								p.P245P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CGGGCTGGGGGGCCCACGCGT	0.697											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	70	3
ASNS	440	broad.mit.edu	37	7	97488559	97488559	+	Silent	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr7:97488559G>A	uc003uot.4	-	4	1145	c.639C>T	c.(637-639)caC>caT	p.H213H	ASNS_uc011kin.2_Silent_p.H130H|ASNS_uc011kio.2_Silent_p.H192H|ASNS_uc003uou.4_Silent_p.H213H|ASNS_uc003uov.4_Silent_p.H213H|ASNS_uc003uox.4_Silent_p.H130H	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	213	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CATAGAGGGCGTGCAGGGGTA	0.433													0	1	0	0	0	71	3
PRKAA1	5562	broad.mit.edu	37	5	40767657	40767657	+	Silent	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr5:40767657G>A	uc003jmb.3	-	6	783	c.777C>T	c.(775-777)acC>acT	p.T259T	PRKAA1_uc003jmc.3_Silent_p.T244T	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	244	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AATATTGAGGGGTATAGAAGA	0.388													0	1	0	0	0	82	4
SLC6A16	28968	broad.mit.edu	37	19	49797224	49797224	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:49797224G>A	uc002pmz.3	-	8	1712	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC6A16_uc002pna.3_Missense_Mutation_p.P493L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	493						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGACAGACGGAGGAAGGAA	0.493													0	1	0	0	0	138	3
ASH1L	55870	broad.mit.edu	37	1	155317613	155317613	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr1:155317613G>A	uc009wqq.3	-	19	8132	c.7652C>T	c.(7651-7653)tCa>tTa	p.S2551L	ASH1L_uc001fkt.3_Missense_Mutation_p.S2546L|ASH1L_uc021pay.1_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2551					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCTGGGCTGATGCCTCATG	0.483													0	1	0	0	0	150	3
SLC45A4	57210	broad.mit.edu	37	8	142231689	142231689	+	Silent	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr8:142231689G>A	uc003ywd.1	-	1	572	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SLC45A4_uc003ywc.1_Silent_p.N88N|SLC45A4_uc010meq.1_Silent_p.N86N	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	139					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGCAGAGCCGTTAAGGAAAA	0.612													0	1	0	0	0	44	3
RYR1	6261	broad.mit.edu	37	19	38976750	38976750	+	Missense_Mutation	SNP	G	A	A			TCGA-DJ-A3UV-01A-11D-A22D-08	TCGA-DJ-A3UV-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0ff3818-b468-40b7-9f82-770f181a2760	e6c777eb-ece0-4023-a1b4-f6f8d0841a37	g.chr19:38976750G>A	uc002oit.3	+	33	5585	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_uc002oiu.3_Missense_Mutation_p.V1819M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1819	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1818G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGGAGGCGGTGCGCGACGG	0.706													0	1	0	0	0	116	3
