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
GALNTL6	442117	broad.mit.edu	37	4	173269794	173269794	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:173269794G>A	ENST00000506823.1	+	5	1164	c.507G>A	c.(505-507)ggG>ggA	p.G169G	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Silent_p.G152G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAACCCCAGGGAGTCTGATAG	0.403000													14	29					0	0	0.000219431	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22828982	22828982	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:22828982T>A	ENST00000376573.4	-	9	1286	c.1058A>T	c.(1057-1059)tAc>tTc	p.Y353F	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.Y294F|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.Y213F	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	353	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGCCATGAAGTACACCTCCTT	0.478000													37	91					0	0	0.00111076	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31839041	31839041	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr22:31839041T>C	ENST00000397525.1	-	16	2336	c.2113A>G	c.(2113-2115)Atg>Gtg	p.M705V	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.M681V|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.M531V|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.M705V|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.M360V	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	705						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTCGTACATCTTACGAATC	0.458000													16	49					0	0	0.000422831	0	0
ALK	238	broad.mit.edu	37	2	29917721	29917721	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:29917721G>C	ENST00000389048.3	-	3	1853	c.947C>G	c.(946-948)cCc>cGc	p.P316R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	316	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CTTACCTCTGGGCATCTCCTT	0.587000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				25	80					0	0	0.001512	0	0
ECI2	10455	broad.mit.edu	37	6	4117578	4117578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:4117578C>T	ENST00000465828.1	-	9	1188	c.903G>A	c.(901-903)tgG>tgA	p.W301*	C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000413766.2_Nonsense_Mutation_p.W164*|ECI2_ENST00000380118.3_Nonsense_Mutation_p.W331*|ECI2_ENST00000380125.2_Nonsense_Mutation_p.W301*|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000361538.2_Nonsense_Mutation_p.W301*			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	331	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TCAGCCTGGTCCAGACTTCTT	0.383000													34	54					0	0	0.00111076	0	0
PLD5	200150	broad.mit.edu	37	1	242253336	242253336	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:242253336C>T	ENST00000536534.2	-	10	1672	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	PLD5_ENST00000427495.1_Silent_p.R415R|PLD5_ENST00000442594.2_Silent_p.R385R			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTCTGTTGTTCCTCACATCTG	0.423000													6	98					0	0	8.12818e-05	0	0
S100PBP	64766	broad.mit.edu	37	1	33292110	33292110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:33292110C>G	ENST00000373475.5	+	3	664	c.410C>G	c.(409-411)tCt>tGt	p.S137C	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.S137C|S100PBP_ENST00000398243.3_Missense_Mutation_p.S137C	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	137						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACAGACGCTCTGTACTAGAA	0.418000													5	31					0	0	8.12818e-05	0	0
FSTL4	23105	broad.mit.edu	37	5	132736544	132736544	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:132736544G>A	ENST00000265342.7	-	4	544	c.295C>T	c.(295-297)Cct>Tct	p.P99S		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	99	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGCACACAGGCACGTAGCTG	0.602000													19	46					0	0	0.00152264	0	0
EEF2K	29904	broad.mit.edu	37	16	22269882	22269882	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:22269882C>T	ENST00000263026.5	+	10	1571	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	366					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGGACCCTCTCTGGGAGCCGG	0.547000													30	68					0	0	0.00178596	0	0
EXT2	2132	broad.mit.edu	37	11	44135765	44135765	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:44135765G>C	ENST00000395673.3	+	4	812	c.756G>C	c.(754-756)acG>acC	p.T252T	EXT2_ENST00000358681.4_Silent_p.T219T|EXT2_ENST00000343631.3_Silent_p.T219T|EXT2_ENST00000533608.1_Silent_p.T219T|EXT2_ENST00000529186.1_3'UTR	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	219					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTTTTCTACGTGGACTTACC	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				7	94					0	0	8.12818e-05	0	0
SDK2	54549	broad.mit.edu	37	17	71394562	71394562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:71394562C>T	ENST00000392650.3	-	23	3100	c.3100G>A	c.(3100-3102)Gtg>Atg	p.V1034M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1034M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1034	Fibronectin type-III 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCCCAACCACGCCTACCTGG	0.627000													10	110					0	0	0.000442599	0	0
F10	2159	broad.mit.edu	37	13	113795343	113795343	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:113795343G>C	ENST00000375559.3	+	5	519	c.481G>C	c.(481-483)Ggc>Cgc	p.G161R	F10_ENST00000375551.3_Missense_Mutation_p.G161R|F10_ENST00000409306.1_Missense_Mutation_p.G161R	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	161	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGACAACGGCAAGGCCTG	0.682000													4	46					0	0	0.000602214	0	0
ITPR2	3709	broad.mit.edu	37	12	26818878	26818878	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:26818878G>A	ENST00000381340.3	-	14	1932	c.1516C>T	c.(1516-1518)Caa>Taa	p.Q506*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	506					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATCAATTTTTGACGCTCTCGG	0.348000													9	67					0	0	0.000442599	0	0
HMHA1	23526	broad.mit.edu	37	19	1080434	1080434	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:1080434C>T	ENST00000536472.1	+	13	1642	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G	HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000539243.2_Intron			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCCTGGCCCTTCACCAG	0.677000													13	61					0	0	0.000308642	0	0
ATP8A1	10396	broad.mit.edu	37	4	42596348	42596348	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:42596348C>A	ENST00000264449.10	-	7	701	c.482G>T	c.(481-483)gGc>gTc	p.G161V	ATP8A1_ENST00000381668.5_Intron	NM_001105529.1	NP_001098999.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	161					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATACTCTTTGCCTTTTATTAT	0.363000													10	75					2.17888e-05	0.00018783	0.000442599	1	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200019	26200019	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:26200019C>G	ENST00000359985.1	+	1	272	c.233C>G	c.(232-234)gCt>gGt	p.A78G		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	78					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GCTGGCGAGGCTTCCCGCCTG	0.622000													17	142					0	0	0.00074312	0	0
A2ML1	144568	broad.mit.edu	37	12	9020633	9020633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:9020633C>T	ENST00000299698.7	+	30	4093	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	A2ML1_ENST00000539547.1_Nonsense_Mutation_p.Q814*	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1149						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCCTCAGGCCAGGGCTGTGT	0.507000													8	73					0	0	0.000274275	0	0
PIK3CB	5291	broad.mit.edu	37	3	138478132	138478132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:138478132C>T	ENST00000477593.1	-	2	127	c.54G>A	c.(52-54)tgG>tgA	p.W18*	PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.W18*			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	18					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATCCACCGCCCAGATGTCAA	0.463000													5	46					0	0	0.000602214	0	0
NBR1	4077	broad.mit.edu	37	17	41331419	41331419	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:41331419C>G	ENST00000422280.1	+	4	633	c.174C>G	c.(172-174)atC>atG	p.I58M	NBR1_ENST00000589872.1_Missense_Mutation_p.I58M|NBR1_ENST00000389312.4_Intron|NBR1_ENST00000542611.1_Missense_Mutation_p.I37M|NBR1_ENST00000341165.6_Missense_Mutation_p.I58M|NBR1_ENST00000590996.1_Missense_Mutation_p.I58M	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	58	OPR.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AGGTATCCATCAACAGTCAAG	0.378000													4	47					0	0	0.000602214	0	0
TBL2	26608	broad.mit.edu	37	7	72988323	72988323	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:72988323T>C	ENST00000305632.5	-	3	632	c.391A>G	c.(391-393)Aga>Gga	p.R131G	TBL2_ENST00000452475.1_Missense_Mutation_p.R131G|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.R95G	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	131										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACGTTGGCTCTCATGCTGCGG	0.602000													8	104					0	0	0.000157383	0	0
DAGLB	221955	broad.mit.edu	37	7	6456255	6456255	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:6456255C>T	ENST00000421761.2	-	8	960	c.662G>A	c.(661-663)tGa>tAa	p.*221*	DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000297056.6_Intron			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AACAAAGGCTCACCTCCACAG	0.567000													14	148					0	0	0.000422831	0	0
LAMB3	3914	broad.mit.edu	37	1	209799289	209799289	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:209799289G>C	ENST00000391911.1	-	13	2069	c.1680C>G	c.(1678-1680)acC>acG	p.T560T	LAMB3_ENST00000367030.3_Silent_p.T560T|LAMB3_ENST00000356082.4_Silent_p.T560T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	560	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCGGGGCCCGGTCAAGCCAG	0.647000													5	57					0	0	0.000602214	0	0
RASA1	5921	broad.mit.edu	37	5	86645051	86645051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:86645051C>G	ENST00000456692.2	+	8	707	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	RASA1_ENST00000506290.1_Missense_Mutation_p.L209V|RASA1_ENST00000512763.1_Missense_Mutation_p.L208V|RASA1_ENST00000274376.6_Missense_Mutation_p.L375V	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	375	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCAGTTTTCTTGTGAGGCC	0.333000													8	32					0	0	0.000157383	0	0
C20orf26	26074	broad.mit.edu	37	20	20279020	20279020	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:20279020G>A	ENST00000245957.5	+	25	3488	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1138										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTGATCACAGATCTCTATAG	0.468000													8	57					0	0	0.000442599	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831314	2831314	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2831314C>T	ENST00000356331.5	+	8	942	c.681C>T	c.(679-681)acC>acT	p.T227T	SH3BP2_ENST00000503393.2_Silent_p.T284T|SH3BP2_ENST00000452765.2_Silent_p.T227T|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Silent_p.T255T|SH3BP2_ENST00000435136.2_Silent_p.T227T|SH3BP2_ENST00000511747.1_Silent_p.T227T	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	227					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCTTTACCTCCAAGGGCC	0.677000									Cherubism				13	101					0	0	0.00185496	0	0
DDX18	8886	broad.mit.edu	37	2	118575041	118575041	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:118575041C>T	ENST00000263239.2	+	2	235	c.107C>T	c.(106-108)tCg>tTg	p.S36L	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	36							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGACCCTATCGGAAACTCAA	0.358000													7	87					0	0	0.000157383	0	0
ENPP2	5168	broad.mit.edu	37	8	120577110	120577110	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:120577110G>A	ENST00000427067.2	-	24	2460	c.2280C>T	c.(2278-2280)ttC>ttT	p.F760F	ENPP2_ENST00000075322.6_Silent_p.F739F|ENPP2_ENST00000259486.6_Silent_p.F791F|ENPP2_ENST00000522826.1_Silent_p.F764F|ENPP2_ENST00000522167.1_Silent_p.F374F			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	739					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTCATAGTCGAAGATTGGTC	0.378000													6	41					0	0	0.00116845	0	0
DNAJC4	3338	broad.mit.edu	37	11	64000221	64000221	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:64000221C>T	ENST00000321685.3	+	5	876	c.411C>T	c.(409-411)agC>agT	p.S137S	RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Silent_p.S138S	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	137					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						AGTTTCACAGCGTGAGGCCAC	0.592000													6	57					0	0	0.000157383	0	0
THRA	7067	broad.mit.edu	37	17	38244572	38244572	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38244572C>T	ENST00000450525.2	+	8	1292	c.801C>T	c.(799-801)taC>taT	p.Y267Y	THRA_ENST00000584985.1_Silent_p.Y267Y|THRA_ENST00000264637.4_Silent_p.Y267Y|THRA_ENST00000394121.4_Silent_p.Y267Y|THRA_ENST00000546243.1_Silent_p.Y267Y	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	267	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTGTCCGCTACGACCCTGAGA	0.637000													12	87					0	0	0.000219431	0	0
TRAT1	50852	broad.mit.edu	37	3	108565976	108565976	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:108565976G>A	ENST00000295756.6	+	4	444	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	TRAT1_ENST00000426646.1_Splice_Site_p.E35K|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	72					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TATGATTTCAGGTAAGTTTTC	0.274000													5	30					0	0	0.000602214	0	0
CD79A	973	broad.mit.edu	37	19	42383361	42383361	+	Splice_Site	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:42383361T>G	ENST00000221972.3	+	2	564		c.e2+2		CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha						B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCGTGCGCCGTGAGTGGCCCA	0.592000			"""O, S"""		DLBCL								10	15					0	0	0.00136819	0	0
SMURF1	57154	broad.mit.edu	37	7	98639810	98639810	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:98639810G>A	ENST00000361125.1	-	13	1699	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	SMURF1_ENST00000361368.2_Silent_p.Y434Y|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	460	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAAGAGCCCGTAATAAGGAT	0.388000													11	120					0	0	0.000219431	0	0
DSCAML1	57453	broad.mit.edu	37	11	117667803	117667803	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:117667803G>C	ENST00000321322.6	-	1	173	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	DSCAML1_ENST00000527706.1_5'UTR	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGCCATAAAGAGGCCCTATT	0.711000													3	50					0	0	6.4e-05	0	0
TBX5	6910	broad.mit.edu	37	12	114793599	114793599	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:114793599G>A	ENST00000310346.4	-	9	1961	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	TBX5_ENST00000405440.2_Missense_Mutation_p.S432L|TBX5_ENST00000349716.5_Missense_Mutation_p.S382L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	432				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CAGGGGCCCCGAGGTGAAGTG	0.647000													5	31					0	0	0.00116845	0	0
GFM1	85476	broad.mit.edu	37	3	158408110	158408110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:158408110G>A	ENST00000486715.1	+	16	2425	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	GFM1_ENST00000264263.5_Missense_Mutation_p.D709N	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	690					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACTGTATGCAGATGTAAGTAG	0.408000													9	80					0	0	0.000442599	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255261	15255261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:15255261C>T	ENST00000378116.4	-	8	2332	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	776						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTCGAGGCTCTTTCTGCTGG	0.577000													13	64					0	0	0.000308642	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859924	144859924	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:144859924G>A	ENST00000369359.4	-	41	6606	c.6568C>T	c.(6568-6570)Ctg>Ttg	p.L2190L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L2139L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369354.3_Silent_p.L2054L|PDE4DIP_ENST00000369356.4_Silent_p.L2054L|PDE4DIP_ENST00000313382.9_Silent_p.L1948L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2054					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCCCTCTCAGAGCTCGTACC	0.577000			T	PDGFRB	MPD								9	100					0	0	0.000274275	0	0
RELN	5649	broad.mit.edu	37	7	103155884	103155884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103155884C>T	ENST00000424685.2	-	50	8026	c.7867G>A	c.(7867-7869)Gtg>Atg	p.V2623M	RELN_ENST00000343529.5_Missense_Mutation_p.V2623M|RELN_ENST00000428762.1_Missense_Mutation_p.V2623M			P78509	RELN_HUMAN	reelin	2623					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGATATTCACAAATCTATAG	0.458000													8	77					0	0	0.000442599	0	0
UVSSA	57654	broad.mit.edu	37	4	1374711	1374711	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1374711G>A	ENST00000389851.4	+	12	2243	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	UVSSA_ENST00000511216.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000512728.1_Missense_Mutation_p.R150Q|UVSSA_ENST00000507531.1_Missense_Mutation_p.R599Q|UVSSA_ENST00000511563.1_Missense_Mutation_p.R150Q	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	599																	GACGAAGGACGGCCGCTCGAC	0.677000													13	54					0	0	0.00074312	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49213182	49213182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:49213182C>T	ENST00000332780.2	+	6	1222	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V		NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	338						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGGGTGTGGCCCAGGGCCCC	0.662000													10	58					0	0	0.000673444	0	0
NCAPD2	9918	broad.mit.edu	37	12	6638150	6638150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:6638150C>T	ENST00000315579.5	+	27	4316	c.3517C>T	c.(3517-3519)Cgc>Tgc	p.R1173C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1128C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1173					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.R1173C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TATCATCAGCCGCCTGTCAGA	0.547000													15	81					0	0	0.000566183	0	0
DLC1	10395	broad.mit.edu	37	8	12947882	12947882	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:12947882G>A	ENST00000276297.4	-	15	4362	c.3953C>T	c.(3952-3954)tCa>tTa	p.S1318L	DLC1_ENST00000358919.2_Missense_Mutation_p.S881L|DLC1_ENST00000512044.2_Missense_Mutation_p.S915L|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.S807L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1318	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTAGTCAGCTGAGTCATCATT	0.512000													11	71					0	0	0.000673444	0	0
EMD	2010	broad.mit.edu	37	X	153609241	153609241	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:153609241G>A	ENST00000369842.4	+	6	737		c.e6-1		EMD_ENST00000369835.3_Splice_Site|EMD_ENST00000492448.1_Splice_Site	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin						cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTTGCCTCAGGGAACGCCCC	0.622000													13	86					0	0	0.000219431	0	0
SORCS2	57537	broad.mit.edu	37	4	7640086	7640086	+	Missense_Mutation	SNP	G	G	T	rs35727450		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:7640086G>T	ENST00000507866.2	+	4	789	c.680G>T	c.(679-681)cGg>cTg	p.R227L	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Missense_Mutation_p.R55L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	227						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTCAGTGACCGGGACCAGAGC	0.572000													6	142					0.00116845	0.00989376	0.00116845	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736510	12736510	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:12736510C>A	ENST00000380682.1	+	16	4071	c.3565C>A	c.(3565-3567)Cgc>Agc	p.R1189S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1189					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGTGTGGCCCGCCTTTGTGA	0.552000													24	131					6.36457e-07	5.62204e-06	0.000586117	1	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													5	79					0	0	0.000602214	0	0
NETO2	81831	broad.mit.edu	37	16	47162452	47162452	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:47162452C>T	ENST00000562435.1	-	4	649	c.265G>A	c.(265-267)Gat>Aat	p.D89N	NETO2_ENST00000303155.5_Missense_Mutation_p.D89N	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	89	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TAATGTTCATCAAAGGTCAAC	0.358000										HNSCC(25;0.065)			14	125					0	0	0.000566183	0	0
SLC25A40	55972	broad.mit.edu	37	7	87473129	87473129	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:87473129T>C	ENST00000341119.5	-	9	1027	c.681A>G	c.(679-681)aaA>aaG	p.K227K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	227					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ATAAACCAGATTTCTCACATA	0.294000													12	20					0	0	0.00185496	0	0
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:130411013G>T	ENST00000370904.1	-	20	3391	c.2481C>A	c.(2479-2481)atC>atA	p.I827I	IGSF1_ENST00000370903.3_Silent_p.I841I|IGSF1_ENST00000361420.3_Silent_p.I836I|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Silent_p.I827I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	836	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498000													52	446					8.28887e-21	7.5072e-20	0.000781405	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	79					0	0	0.000878237	0	0
RELN	5649	broad.mit.edu	37	7	103214705	103214705	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103214705C>T	ENST00000424685.2	-	30	4504	c.4345G>A	c.(4345-4347)Gag>Aag	p.E1449K	RELN_ENST00000343529.5_Missense_Mutation_p.E1449K|RELN_ENST00000428762.1_Missense_Mutation_p.E1449K			P78509	RELN_HUMAN	reelin	1449					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAACATCTCATTGTGATTG	0.458000													6	58					0	0	8.12818e-05	0	0
STX11	8676	broad.mit.edu	37	6	144508445	144508445	+	Silent	SNP	C	C	G	rs145774130	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:144508445C>G	ENST00000367568.4	+	2	864	c.681C>G	c.(679-681)ctC>ctG	p.L227L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	227	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TACACGAGCTCTTCTTGCAGA	0.652000									Familial Hemophagocytic Lymphohistiocytosis				7	30					0	0	8.12818e-05	0	0
CPA1	1357	broad.mit.edu	37	7	130022031	130022031	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:130022031G>A	ENST00000011292.3	+	4	614	c.464G>A	c.(463-465)cGt>cAt	p.R155H	CPA1_ENST00000484324.1_Missense_Mutation_p.R67H	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	155					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TATGAAGGGCGTCCCATTTAC	0.552000													9	100					0	0	0.000442599	0	0
GRID2	2895	broad.mit.edu	37	4	94006340	94006340	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:94006340C>G	ENST00000282020.4	+	3	697	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	147					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTCTCAGTTCGCCCACCTGT	0.478000													5	27					0	0	0.000602214	0	0
BANP	54971	broad.mit.edu	37	16	88039762	88039762	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:88039762C>G	ENST00000393207.1	+	6	743	c.522C>G	c.(520-522)caC>caG	p.H174Q	BANP_ENST00000538234.1_Missense_Mutation_p.H182Q|BANP_ENST00000355163.5_Missense_Mutation_p.H149Q|BANP_ENST00000393208.2_Missense_Mutation_p.H143Q|BANP_ENST00000286122.7_Missense_Mutation_p.H174Q|BANP_ENST00000479780.2_Missense_Mutation_p.H143Q|BANP_ENST00000355022.4_Missense_Mutation_p.H143Q	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	174	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACAGCCACCACGAGGACGGGG	0.627000													14	123					0	0	0.00074312	0	0
ITGB2	3689	broad.mit.edu	37	21	46306710	46306710	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:46306710T>C	ENST00000397850.2	-	16	2640	c.2188A>G	c.(2188-2190)Agc>Ggc	p.S730G	ITGB2_ENST00000397852.1_Missense_Mutation_p.S730G|ITGB2_ENST00000355153.4_Missense_Mutation_p.S730G|ITGB2_ENST00000302347.5_Missense_Mutation_p.S730G|ITGB2_ENST00000397854.3_Missense_Mutation_p.S673G|ITGB2_ENST00000397857.1_Missense_Mutation_p.S730G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	730					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CGGAGGTCGCTCAGGTGGATC	0.627000													3	63					0	0	6.4e-05	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796804	93796804	+	Silent	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:93796804G>C	ENST00000315765.9	+	3	554	c.546G>C	c.(544-546)ctG>ctC	p.L182L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	182	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAACTGCCTGACCTGGGTGT	0.532000													5	47					0	0	0.000602214	0	0
OR4A47	403253	broad.mit.edu	37	11	48511224	48511224	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:48511224A>G	ENST00000446524.1	+	1	956	c.880A>G	c.(880-882)Agt>Ggt	p.S294G		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGAGATGACAAGTGCTATGAA	0.418000													3	56					0	0	6.4e-05	0	0
KLHL1	57626	broad.mit.edu	37	13	70681399	70681399	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:70681399G>A	ENST00000377844.4	-	1	1192	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	KLHL1_ENST00000545028.1_Silent_p.L13L|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	145					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGCTCTTGCAGAACCAGCCCT	0.557000													23	122					0	0	0.000586117	0	0
CPEB3	22849	broad.mit.edu	37	10	93952323	93952323	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:93952323G>C	ENST00000412050.4	-	3	1164	c.1076C>G	c.(1075-1077)aCt>aGt	p.T359S	CPEB3_ENST00000265997.4_Missense_Mutation_p.T359S	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	359							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCATGATCAGTCCTTATCAT	0.403000													6	19					0	0	0.00116845	0	0
MX1	4599	broad.mit.edu	37	21	42823170	42823170	+	Splice_Site	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr21:42823170G>A	ENST00000398600.2	+	17	2534	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K	MX1_ENST00000288383.6_Splice_Site_p.K480K|MX1_ENST00000398598.3_Splice_Site_p.K503K|MX1_ENST00000455164.2_Splice_Site_p.K503K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	503					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAACCGCCAAGGTAAAACCAA	0.308000													119	244					0	0	0.000781405	0	0
RELN	5649	broad.mit.edu	37	7	103275933	103275933	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:103275933C>G	ENST00000424685.2	-	19	2563	c.2404G>C	c.(2404-2406)Gat>Cat	p.D802H	RELN_ENST00000343529.5_Missense_Mutation_p.D802H|RELN_ENST00000428762.1_Missense_Mutation_p.D802H			P78509	RELN_HUMAN	reelin	802					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCCCATTATCATAAGAATAA	0.438000													4	69					0	0	0.00024832	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571496	155571496	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:155571496G>A	ENST00000392845.3	-	1	671	c.291C>T	c.(289-291)ctC>ctT	p.L97L	SLC33A1_ENST00000359479.3_Silent_p.L97L			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCAAAATGAGTGGGATGC	0.483000													8	74					0	0	0.000157383	0	0
PEG3	5178	broad.mit.edu	37	19	57328456	57328456	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:57328456A>G	ENST00000326441.9	-	10	1717	c.1354T>C	c.(1354-1356)Tat>Cat	p.Y452H	PEG3_ENST00000423103.2_Missense_Mutation_p.Y452H|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Y326H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Y328H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	452					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCACATACATATGGCATTGCC	0.488000													6	87					0	0	0.000157383	0	0
NFATC4	4776	broad.mit.edu	37	14	24836320	24836320	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:24836320C>T	ENST00000413692.2	+	1	204	c.60C>T	c.(58-60)gtC>gtT	p.V20V	NFATC4_ENST00000554591.1_Silent_p.V20V|NFATC4_ENST00000440487.2_3'UTR	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	0					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCACCGAGTCACGAATCTCC	0.562000													21	149					0	0	0.00047179	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900651	28900651	+	RNA	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:28900651G>A	ENST00000528584.1	+	0	162					NR_036443.1																						AGTCCATGCTGAGGTGGCGCA	0.642000													6	40					0	0	0.00116845	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073578	73073578	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:73073578C>T	ENST00000263674.3	+	14	5145	c.4795C>T	c.(4795-4797)Ctc>Ttc	p.L1599F		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1599					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCCGCGACGCTCGCGGAGCC	0.731000													5	32					0	0	8.12818e-05	0	0
ATP9A	10079	broad.mit.edu	37	20	50224073	50224073	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:50224073G>A	ENST00000338821.5	-	26	3060	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	ATP9A_ENST00000311637.5_Silent_p.I796I|ATP9A_ENST00000402822.1_Silent_p.I811I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	932					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTTGATAGATGCTAATCA	0.488000													12	39					0	0	0.00185496	0	0
SESN3	143686	broad.mit.edu	37	11	94911061	94911061	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:94911061C>T	ENST00000536441.1	-	8	1405	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E218K	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	357					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CCATGATTTTCCCAGGTATAG	0.313000													5	15					0	0	0.000602214	0	0
MYEF2	50804	broad.mit.edu	37	15	48443319	48443319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:48443319C>T	ENST00000324324.7	-	14	1635	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	MYEF2_ENST00000267836.6_Intron	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	452	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CTACTGGACCCATGTTAGAAG	0.323000													5	26					0	0	0.000602214	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													6	126					0	0	0.00116845	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998771	112998771	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:112998771A>G	ENST00000271277.6	+	6	882	c.657A>G	c.(655-657)gaA>gaG	p.E219E		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	219						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACTGGAAGAAGAGTTGGCAG	0.512000													9	59					0	0	0.000442599	0	0
TEX2	55852	broad.mit.edu	37	17	62254697	62254697	+	Silent	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:62254697G>T	ENST00000258991.3	-	6	2664	c.2580C>A	c.(2578-2580)ctC>ctA	p.L860L	TEX2_ENST00000584379.1_Silent_p.L853L|TEX2_ENST00000583097.1_Silent_p.L853L			Q8IWB9	TEX2_HUMAN	testis expressed 2	853					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTATTTTGCTGAGTTTCATTT	0.378000													29	168					2.12542e-12	1.91287e-11	0.00106085	1	0
DIS3L2	129563	broad.mit.edu	37	2	233198629	233198629	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:233198629C>T	ENST00000325385.7	+	17	2366	c.2090C>T	c.(2089-2091)aCa>aTa	p.T697I	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Missense_Mutation_p.T697I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	697							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCCCTGTACACACACTTCACC	0.662000													18	92					0	0	0.00074312	0	0
FAM58A	92002	broad.mit.edu	37	X	152858023	152858023	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:152858023G>C	ENST00000406277.2	-	6	694	c.592C>G	c.(592-594)Ctg>Gtg	p.L198V	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	200					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGACCTGCAGGGCCAGGTAG	0.692000													7	31					0	0	8.12818e-05	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113675335	113675335	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:113675335G>A	ENST00000330212.3	+	4	1321	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G335E	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	341						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TATTGTCCTGGAGTTTATGCA	0.463000													6	72					0	0	0.00116845	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721343	135721343	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:135721343G>A	ENST00000264977.3	+	2	1620	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	335					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCTAAATATGAAGATGTTGT	0.413000													7	65					0	0	0.000442599	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513419	50513419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:50513419C>T	ENST00000419119.1	-	2	3120	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	FIGNL1_ENST00000433017.1_Missense_Mutation_p.E523K|FIGNL1_ENST00000395556.2_Missense_Mutation_p.E523K|FIGNL1_ENST00000356889.4_Missense_Mutation_p.E523K			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	523					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.E523*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACTAAAAATTCTGTTTTTATC	0.413000													29	111					0	0	0.000878237	0	0
GALR1	2587	broad.mit.edu	37	18	74963033	74963033	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr18:74963033T>C	ENST00000299727.3	+	1	529	c.529T>C	c.(529-531)Ttc>Ctc	p.F177L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	177					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCAGGGCCTCTTCCACCCGCG	0.677000													18	54					0	0	0.00121646	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281341	49281341	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:49281341A>G	ENST00000282018.3	+	1	391	c.388A>G	c.(388-390)Acc>Gcc	p.T130A		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	130					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTTCCTGACCGTGCTGAG	0.468000													3	79					0	0	6.4e-05	0	0
S1PR1	1901	broad.mit.edu	37	1	101705363	101705363	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:101705363C>G	ENST00000305352.6	+	2	1198	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	275					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCTCTTCATCCTGCTCCTGCT	0.582000													38	244					0	0	0.00170553	0	0
ERI3	79033	broad.mit.edu	37	1	44804820	44804820	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:44804820C>T	ENST00000372257.2	-	3	567	c.386G>A	c.(385-387)gGc>gAc	p.G129D	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	129						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATGGATGCGCCAAAGCCGTG	0.542000													15	187					0	0	0.000308642	0	0
DFFA	1676	broad.mit.edu	37	1	10527261	10527261	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:10527261C>T	ENST00000377038.3	-	3	494	c.427G>A	c.(427-429)Gag>Aag	p.E143K	DFFA_ENST00000377036.2_Missense_Mutation_p.E143K	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	143					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	p.E143Q(2)		large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGTCCTCCTCTGATAGGAGG	0.532000													19	114					0	0	0.00152264	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444248	15444248	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:15444248C>T	ENST00000295297.4	+	3	975	c.716C>T	c.(715-717)tCg>tTg	p.S239L	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.S232L|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.S232L	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	232	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GATGTGGCTTCGGGGTCCACA	0.502000													60	96					0	0	0.000781405	0	0
GLT1D1	144423	broad.mit.edu	37	12	129432001	129432001	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:129432001G>A	ENST00000442111.2	+	10	866	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GLT1D1_ENST00000281703.6_Missense_Mutation_p.E180K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E265K|GLT1D1_ENST00000542193.1_Missense_Mutation_p.E177K			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	260					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TGCAATTTTGGAGGTAATTAT	0.458000													10	65					0	0	0.00185496	0	0
TOR2A	27433	broad.mit.edu	37	9	130496823	130496823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:130496823G>A	ENST00000373281.5	-	2	195	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	TOR2A_ENST00000373284.5_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000336067.6_Nonsense_Mutation_p.Q58*|TOR2A_ENST00000472723.1_5'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	58					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCCAGGTGCTGAGCCAGGTCA	0.632000											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	26					0	0	0.000308642	0	0
MYH13	8735	broad.mit.edu	37	17	10248880	10248880	+	Silent	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10248880C>A	ENST00000418404.3	-	13	1480	c.1317G>T	c.(1315-1317)ctG>ctT	p.L439L	MYH13_ENST00000252172.4_Silent_p.L439L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	439	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACCATCCACAGGAACATCT	0.517000													6	137					1.12685e-05	9.83246e-05	0.000274275	1	0
FLG	2312	broad.mit.edu	37	1	152284039	152284039	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:152284039C>T	ENST00000368799.1	-	3	3358	c.3323G>A	c.(3322-3324)gGg>gAg	p.G1108E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1108	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCTTCCCCCTGACCAGTC	0.582000									Ichthyosis				57	258					0	0	0.000781405	0	0
GON4L	54856	broad.mit.edu	37	1	155721969	155721969	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:155721969C>T	ENST00000437809.1	-	30	6374	c.6252G>A	c.(6250-6252)gtG>gtA	p.V2084V	GON4L_ENST00000368331.1_Silent_p.V2085V|GON4L_ENST00000271883.5_Silent_p.V2084V	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2085					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTTGTCTTCACCCGAGCTC	0.527000													16	141					0	0	0.000308642	0	0
TEP1	7011	broad.mit.edu	37	14	20876196	20876196	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:20876196G>C	ENST00000262715.5	-	2	443	c.403C>G	c.(403-405)Cac>Gac	p.H135D	TEP1_ENST00000556935.1_Missense_Mutation_p.H135D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	135					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCGTCATGTGAGATATCTGT	0.527000													15	168					0	0	0.000219431	0	0
ZNF451	26036	broad.mit.edu	37	6	57013396	57013396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:57013396C>T	ENST00000370706.4	+	10	2757	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S838L|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GCTAGTGCCTCACATACAGAG	0.373000													8	13					0	0	0.000274275	0	0
SLC37A3	84255	broad.mit.edu	37	7	140058547	140058547	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:140058547G>C	ENST00000326232.9	-	6	617	c.414C>G	c.(412-414)ttC>ttG	p.F138L	SLC37A3_ENST00000429996.2_Intron|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.F138L|SLC37A3_ENST00000340308.3_Missense_Mutation_p.F138L	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	138					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATTTGTTGTAGAAACGCAGCC	0.507000													23	228					0	0	0.000586117	0	0
G2E3	55632	broad.mit.edu	37	14	31077178	31077178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:31077178C>G	ENST00000206595.6	+	12	1557	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	G2E3_ENST00000553504.1_Missense_Mutation_p.S498C|G2E3_ENST00000438909.2_Missense_Mutation_p.S422C	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	468	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGTTTCTTTTCTAAAACCTTG	0.378000													8	39					0	0	0.000157383	0	0
UNC13C	440279	broad.mit.edu	37	15	54586192	54586192	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:54586192T>C	ENST00000545554.1	+	10	3918	c.3918T>C	c.(3916-3918)gaT>gaC	p.D1306D	UNC13C_ENST00000537900.1_Silent_p.D1304D|UNC13C_ENST00000260323.11_Silent_p.D1306D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1306	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGGAGTCAGATGATTTTCTGG	0.368000													19	80					0	0	0.00152264	0	0
CRTC2	200186	broad.mit.edu	37	1	153921053	153921053	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921053C>G	ENST00000368633.1	-	13	1869	c.1742G>C	c.(1741-1743)gGg>gCg	p.G581A	CRTC2_ENST00000368630.3_Missense_Mutation_p.G261A	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	581					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAATCCAGGCCCTTCAGAAAA	0.567000													8	109					0	0	0.000274275	0	0
ASCC3	10973	broad.mit.edu	37	6	101049784	101049784	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:101049784T>G	ENST00000369162.2	-	34	5549	c.5205A>C	c.(5203-5205)ttA>ttC	p.L1735F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1735	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTCTGCATTTAAGTGGTCAG	0.368000													3	53					0	0	6.4e-05	0	0
TACC3	10460	broad.mit.edu	37	4	1730206	1730206	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1730206G>C	ENST00000313288.4	+	4	1183	c.1077G>C	c.(1075-1077)gaG>gaC	p.E359D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	359						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GACTGGGAGAGAGGTCCGGCC	0.597000													5	73					0	0	0.00116845	0	0
THTPA	79178	broad.mit.edu	37	14	24028017	24028017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:24028017G>A	ENST00000288014.6	+	2	1397	c.661G>A	c.(661-663)Gag>Aag	p.E221K	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.E131K|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000556015.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.E221K|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	221					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GAGGCCACAGGAGACTGAAGA	0.572000											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	0.000602214	0	0
KDM6A	7403	broad.mit.edu	37	X	44949018	44949018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chrX:44949018G>A	ENST00000377967.4	+	25	3620	c.3579G>A	c.(3577-3579)tgG>tgA	p.W1193*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1114*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1200*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1148*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1193	JmjC.				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)		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						TGGGTTCTTGGTGGCCCAATC	0.353000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								6	16					0	0	0.000157383	0	0
FAM53A	152877	broad.mit.edu	37	4	1643302	1643302	+	Nonsense_Mutation	SNP	G	G	A	rs151156399		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:1643302G>A	ENST00000489363.1	-	6	1666	c.1069C>T	c.(1069-1071)Caa>Taa	p.Q357*	FAM53A_ENST00000461064.1_Silent_p.L305L|FAM53A_ENST00000472884.2_Silent_p.L305L|FAM53A_ENST00000308132.6_Silent_p.L305L			Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	0						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CTTCGTAATTGAGGGAGCAAA	0.502000													43	319					0	0	0.000781405	0	0
ALDOA	226	broad.mit.edu	37	16	30080666	30080666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:30080666G>A	ENST00000566897.1	+	9	1732	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ALDOA_ENST00000395240.3_Missense_Mutation_p.D198N|ALDOA_ENST00000338110.5_Missense_Mutation_p.D194N|ALDOA_ENST00000563060.2_Missense_Mutation_p.D194N|ALDOA_ENST00000412304.2_Missense_Mutation_p.D194N|ALDOA_ENST00000569545.1_Missense_Mutation_p.D194N|ALDOA_ENST00000564595.2_Missense_Mutation_p.D248N|ALDOA_ENST00000564546.1_Missense_Mutation_p.D194N|ALDOA_ENST00000569798.1_Missense_Mutation_p.D194N|ALDOA_ENST00000395248.1_Missense_Mutation_p.D248N			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	194					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GATCCTCCCTGATGGGGACCA	0.602000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	88					0	0	0.000219431	0	0
PRKCZ	5590	broad.mit.edu	37	1	2077537	2077537	+	Missense_Mutation	SNP	G	G	C	rs143367104		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:2077537G>C	ENST00000400921.2	+	4	758	c.75G>C	c.(73-75)gaG>gaC	p.E25D	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E25D	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	208	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		CTTCCGAGGAGACAGATGGAA	0.582000													3	51					0	0	6.4e-05	0	0
ADPRM	56985	broad.mit.edu	37	17	10614321	10614321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:10614321G>A	ENST00000379774.4	+	4	980	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ADPRM_ENST00000609540.1_Silent_p.*295*	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		CGTCAACCTAGAAGGAGTTAT	0.463000													8	51					0	0	0.000274275	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227316871	227316871	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:227316871G>A	ENST00000366769.3	-	11	2743	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	CDC42BPA_ENST00000535525.1_Silent_p.S484S|CDC42BPA_ENST00000334218.5_Silent_p.S484S|CDC42BPA_ENST00000366764.2_Silent_p.S484S|CDC42BPA_ENST00000366765.3_Silent_p.S484S|CDC42BPA_ENST00000366767.3_Silent_p.S484S|CDC42BPA_ENST00000366766.2_Silent_p.S484S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	484					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTAAATCTTTGCTTGCTGTTA	0.289000													7	62					0	0	0.000157383	0	0
PDIA3	2923	broad.mit.edu	37	15	44061801	44061801	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:44061801A>G	ENST00000300289.5	+	10	1371	c.1223A>G	c.(1222-1224)cAc>cGc	p.H408R	PDIA3_ENST00000538521.1_Missense_Mutation_p.H388R	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	408	Thioredoxin 2.	Contributes to redox potential value (By similarity).			cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TGGTGTGGTCACTGTAAGAAC	0.393000													11	73					0	0	0.00136819	0	0
MOGS	7841	broad.mit.edu	37	2	74688895	74688895	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:74688895C>T	ENST00000233616.4	-	4	2183	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R568Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	674					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACCCACCACCCGAACGAGCCC	0.582000													9	99					0	0	0.000442599	0	0
KRBA1	84626	broad.mit.edu	37	7	149422508	149422508	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:149422508C>T	ENST00000255992.10	+	10	1628	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	KRBA1_ENST00000319551.8_Missense_Mutation_p.S410F|KRBA1_ENST00000485033.2_Missense_Mutation_p.S410F|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	410										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTCTTGTTCCCAGAACCCC	0.602000													6	26					0	0	8.12818e-05	0	0
PCK1	5105	broad.mit.edu	37	20	56139562	56139562	+	Missense_Mutation	SNP	C	C	T	rs149472972		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:56139562C>T	ENST00000319441.4	+	8	1375	c.1211C>T	c.(1210-1212)tCg>tTg	p.S404L	PCK1_ENST00000543666.1_Missense_Mutation_p.S87L|PCK1_ENST00000535860.1_Silent_p.L301L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	404	Substrate binding.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CACCCCAACTCGAGGTTCTGC	0.587000													18	151					0	0	0.000958276	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452896	100452896	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:100452896T>A	ENST00000279907.7	-	14	2371	c.2159A>T	c.(2158-2160)gAc>gTc	p.D720V	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D370V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	720										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGGGAATGAGTCTACAAAACT	0.398000													7	65					0	0	8.12818e-05	0	0
ACTL6A	86	broad.mit.edu	37	3	179301231	179301231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:179301231C>T	ENST00000429709.2	+	12	1330	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000392662.1_Missense_Mutation_p.P331S|ACTL6A_ENST00000450518.2_Missense_Mutation_p.P331S	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	373					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGAAAACTCCTCCAGTAAG	0.368000													9	82					0	0	0.000442599	0	0
CRTC2	200186	broad.mit.edu	37	1	153921067	153921067	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:153921067A>G	ENST00000368633.1	-	13	1855	c.1728T>C	c.(1726-1728)ccT>ccC	p.P576P	CRTC2_ENST00000368630.3_Silent_p.P256P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	576					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGAAAAGCCAGGGGGATCCA	0.542000													10	108					0	0	0.000673444	0	0
FHOD1	29109	broad.mit.edu	37	16	67263612	67263612	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:67263612G>A	ENST00000258201.4	-	22	3669	c.3422C>T	c.(3421-3423)aCg>aTg	p.T1141M		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1141					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACTCTTCAACGTCCTTCTCAC	0.582000													18	108					0	0	0.000958276	0	0
XKR6	286046	broad.mit.edu	37	8	10755762	10755762	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:10755762C>T	ENST00000416569.2	-	3	1652	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	XKR6_ENST00000304437.2_Silent_p.T263T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	542						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCTGGTGGGCGTAACCTGGG	0.637000													8	38					0	0	0.000274275	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35450108	35450108	+	RNA	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:35450108T>C	ENST00000430846.1	+	0	2958																											GTATCAGACATGGCACAGCAG	0.418000													32	27					0	0	0.000692331	0	0
TMC7	79905	broad.mit.edu	37	16	19058553	19058553	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:19058553C>T	ENST00000421369.3	+	12	1950	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	TMC7_ENST00000304381.5_Silent_p.I574I|TMC7_ENST00000569532.1_Silent_p.I574I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	574						integral to membrane		p.I574I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AATTCATTATCATCTTCTATG	0.502000													39	314					0	0	0.00170553	0	0
SPATA17	128153	broad.mit.edu	37	1	217915425	217915425	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:217915425C>T	ENST00000366933.4	+	6	559	c.504C>T	c.(502-504)ctC>ctT	p.L168L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	168						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGCATTACCTCCTCAGCACAA	0.473000													7	85					0	0	8.12818e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36872485	36872485	+	Silent	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:36872485T>C	ENST00000429976.2	-	21	8704	c.8457A>G	c.(8455-8457)gtA>gtG	p.V2819V	TRANK1_ENST00000428977.2_Silent_p.V2269V|TRANK1_ENST00000301807.6_Silent_p.V2269V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2819					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTGGATCCATACACTTTGCT	0.532000													43	143					0	0	0.000781405	0	0
UBXN6	80700	broad.mit.edu	37	19	4447594	4447594	+	Nonsense_Mutation	SNP	C	C	A	rs141391502	by1000genomes	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:4447594C>A	ENST00000301281.6	-	6	692	c.568G>T	c.(568-570)Gag>Tag	p.E190*	UBXN6_ENST00000394765.3_Nonsense_Mutation_p.E137*|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	190	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTCTCCTCCTCGGGGTGCAGG	0.672000													8	117					3.86212e-05	0.00033094	0.000673444	1	0
NCOR1	9611	broad.mit.edu	37	17	15989705	15989705	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:15989705C>G	ENST00000268712.3	-	23	3325	c.3068G>C	c.(3067-3069)cGg>cCg	p.R1023P	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1039P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1023	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGTCGGAAGCCGAACGCCTTC	0.458000													7	37					0	0	8.12818e-05	0	0
HAUS3	79441	broad.mit.edu	37	4	2242103	2242103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2242103G>A	ENST00000243706.4	-	2	800	c.571C>T	c.(571-573)Cca>Tca	p.P191S	HAUS3_ENST00000506763.1_Missense_Mutation_p.P191S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.P191S|POLN_ENST00000515357.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	191					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						aataccagtggatttgtccct	0.348000													5	27					0	0	0.000602214	0	0
RNF213	57674	broad.mit.edu	37	17	78319411	78319411	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:78319411A>G	ENST00000582970.1	+	29	7419	c.7276A>G	c.(7276-7278)Aaa>Gaa	p.K2426E	RNF213_ENST00000508628.2_Missense_Mutation_p.K2475E|RNF213_ENST00000336301.6_Missense_Mutation_p.K499E	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCTGTGGGAAAACCAGGCT	0.502000													22	155					0	0	0.000586117	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262546	69262546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr14:69262546G>C	ENST00000408913.2	-	1	644	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGGAGCCGAGAGGAGGGAGC	0.602000													12	107					0	0	0.000978159	0	0
BRPF3	27154	broad.mit.edu	37	6	36168333	36168333	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:36168333G>A	ENST00000357641.6	+	2	487	c.234G>A	c.(232-234)aaG>aaA	p.K78K	BRPF3_ENST00000443324.2_Silent_p.K78K|BRPF3_ENST00000534400.1_Silent_p.K78K|BRPF3_ENST00000543502.1_Silent_p.K78K|BRPF3_ENST00000534694.1_Silent_p.K78K|BRPF3_ENST00000339717.7_Silent_p.K78K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	78					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATAGTAACAAGGAAAACAGTG	0.463000													11	75					0	0	0.000673444	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406386	148406386	+	Missense_Mutation	SNP	T	T	C	rs17722209	by1000genomes	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:148406386T>C	ENST00000394358.2	-	12	3016	c.2564A>G	c.(2563-2565)aAa>aGa	p.K855R	SH3TC2_ENST00000512049.1_Intron|SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000538184.1_Intron			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding	p.K855R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAACACTTTTCTCTATAGC	0.443000													4	129					0	0	0.00024832	0	0
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	C	A	rs145888614	byFrequency	TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:29379626C>A	ENST00000343067.4	+	12	1774	c.1647C>A	c.(1645-1647)gtC>gtA	p.V549V	EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373800.3_Silent_p.V340V|EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000373798.1_Silent_p.V549V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	549	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)|p.V549V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483000													10	32					5.50884e-06	4.83629e-05	0.00136819	1	0
PON2	5445	broad.mit.edu	37	7	95041045	95041045	+	Silent	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr7:95041045A>G	ENST00000536183.1	-	5	660	c.477T>C	c.(475-477)aaT>aaC	p.N159N	PON2_ENST00000222572.3_Silent_p.N138N|PON2_ENST00000433091.2_Silent_p.N126N	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	138					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTCCACTGTATTCTTGAATT	0.348000													6	32					0	0	0.00116845	0	0
RASL11A	387496	broad.mit.edu	37	13	27845086	27845086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr13:27845086G>C	ENST00000241463.4	+	1	623	c.5G>C	c.(4-6)cGg>cCg	p.R2P		NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	2					positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		CGCTCCATGCGGCCGCTCAGC	0.706000													2	1					0	0	6.4e-05	0	0
COL23A1	91522	broad.mit.edu	37	5	177673290	177673290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:177673290C>T	ENST00000390654.3	-	24	1735	c.1378G>A	c.(1378-1380)Ggc>Agc	p.G460S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	460	Collagen-like 4.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCAATAAGGCCCGGTGGGCCA	0.557000													3	6					0	0	0.00024832	0	0
IDH3B	3420	broad.mit.edu	37	20	2639120	2639120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:2639120C>T	ENST00000380851.5	-	12	1150	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380843.4_3'UTR	NM_001258384.1|NM_174855.2	NP_001245313.1|NP_777280.1	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	374					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	ATGACAGCCTCAGTGAAGTCA	0.478000													12	71					0	0	0.00185496	0	0
COL6A6	131873	broad.mit.edu	37	3	130311550	130311550	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:130311550G>T	ENST00000358511.6	+	14	4386	c.4355G>T	c.(4354-4356)gGa>gTa	p.G1452V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1452V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1452	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAAACAGAGGACTAAATGGA	0.313000													28	124					4.34311e-12	3.88437e-11	0.00058488	1	0
PTK6	5753	broad.mit.edu	37	20	62168507	62168507	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr20:62168507C>T	ENST00000217185.2	-	1	188	c.161G>A	c.(160-162)gGt>gAt	p.G54D	PTK6_ENST00000542869.1_De_novo_Start_InFrame	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	54	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CACGGCCCCACCCGCCTCGTC	0.692000													14	18					0	0	0.000308642	0	0
MBTPS1	8720	broad.mit.edu	37	16	84096944	84096944	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr16:84096944G>C	ENST00000343411.3	-	19	3033	c.2538C>G	c.(2536-2538)gaC>gaG	p.D846E		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	846					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAATTGGAGTCCCCATACA	0.478000											OREG0023981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	140					0	0	0.00116845	0	0
COL5A2	1290	broad.mit.edu	37	2	189904075	189904075	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:189904075C>T	ENST00000374866.3	-	51	4122	c.3848G>A	c.(3847-3849)cGc>cAc	p.R1283H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1283	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATCGGGGCTGCGCATGGTTTC	0.522000													7	53					0	0	0.000157383	0	0
OR8J1	219477	broad.mit.edu	37	11	56128191	56128191	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:56128191A>G	ENST00000303039.3	+	1	501	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	157					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)					TTCTACAGCTATTGTGGTTTC	0.423000													4	36					0	0	0.00024832	0	0
FBXW7	55294	broad.mit.edu	37	4	153244124	153244124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:153244124G>C	ENST00000281708.4	-	12	3262	c.2033C>G	c.(2032-2034)tCa>tGa	p.S678*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S560*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S502*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S678*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S598*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	678					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.S678*(2)|p.S560*(1)|p.S598*(1)|p.S439*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTGTGTTTGAGGCTCTGAT	0.493000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	52					0	0	0.000781405	0	0
STX3	6809	broad.mit.edu	37	11	59554605	59554605	+	Missense_Mutation	SNP	G	G	C	rs140824363		TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:59554605G>C	ENST00000535361.1	+	3	757	c.210G>C	c.(208-210)gaG>gaC	p.E70D	STX3_ENST00000300150.7_Missense_Mutation_p.E39D|STX3_ENST00000337979.4_Missense_Mutation_p.E70D|STX3_ENST00000529177.1_Missense_Mutation_p.E70D|STX3_ENST00000437946.2_Intron			Q13277	STX3_HUMAN	syntaxin 3	70					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CGATTCCAGAGCCAAGTGAGT	0.448000													6	43					0	0	8.12818e-05	0	0
SYBU	55638	broad.mit.edu	37	8	110592172	110592172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:110592172G>T	ENST00000399066.3	-	4	1308	c.581C>A	c.(580-582)tCa>tAa	p.S194*	SYBU_ENST00000532779.1_Nonsense_Mutation_p.S129*|SYBU_ENST00000528647.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000422135.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000408889.3_Nonsense_Mutation_p.S78*|SYBU_ENST00000533065.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000440310.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000433638.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000533171.1_Nonsense_Mutation_p.S197*|SYBU_ENST00000528331.1_Nonsense_Mutation_p.S78*|SYBU_ENST00000424158.2_Nonsense_Mutation_p.S202*|SYBU_ENST00000533895.1_Nonsense_Mutation_p.S196*|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000408908.2_Nonsense_Mutation_p.S197*|SYBU_ENST00000446070.2_Nonsense_Mutation_p.S196*|SYBU_ENST00000276646.9_Nonsense_Mutation_p.S197*|SYBU_ENST00000529690.1_Nonsense_Mutation_p.S67*|SYBU_ENST00000419099.1_Nonsense_Mutation_p.S196*	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	197	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCGCGGGGATGATGGGCTGCT	0.517000													18	131					6.44725e-10	5.73045e-09	0.000295444	1	0
ATAD2	29028	broad.mit.edu	37	8	124382178	124382178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:124382178C>G	ENST00000287394.5	-	7	921	c.814G>C	c.(814-816)Gat>Cat	p.D272H	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	272	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcatcatcatcatcatcgtca	0.363000													5	23					0	0	0.000602214	0	0
EP400	57634	broad.mit.edu	37	12	132446281	132446281	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr12:132446281T>C	ENST00000333577.4	+	2	1226	c.1117T>C	c.(1117-1119)Tac>Cac	p.Y373H	EP400_ENST00000389562.2_Missense_Mutation_p.Y373H|EP400_ENST00000330386.6_Missense_Mutation_p.Y373H|EP400_ENST00000332482.4_Missense_Mutation_p.Y373H|EP400_ENST00000389561.2_Missense_Mutation_p.Y373H			Q96L91	EP400_HUMAN	E1A binding protein p400	373					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACTATCATTACCAGGAGAT	0.473000													8	66					0	0	0.000157383	0	0
SGOL1	151648	broad.mit.edu	37	3	20225184	20225184	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:20225184C>T	ENST00000412997.1	-	3	606	c.255G>A	c.(253-255)ctG>ctA	p.L85L	SGOL1_ENST00000443724.1_Silent_p.L85L|SGOL1_ENST00000419233.2_Silent_p.L85L|SGOL1_ENST00000306698.2_Silent_p.L85L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Silent_p.L85L|SGOL1_ENST00000421451.1_Silent_p.L85L|SGOL1_ENST00000452020.1_Silent_p.L85L|SGOL1_ENST00000263753.4_Silent_p.L85L|SGOL1_ENST00000437051.1_Silent_p.L85L|SGOL1_ENST00000383774.1_Silent_p.L85L|SGOL1_ENST00000425061.1_Silent_p.L85L|SGOL1_ENST00000412868.1_Silent_p.L85L|SGOL1_ENST00000417364.1_Silent_p.L85L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_Silent_p.L85L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	85	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ATTCTTTTCTCAGCTGTAGGA	0.338000													9	86					0	0	0.000442599	0	0
MLIP	90523	broad.mit.edu	37	6	54095691	54095691	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr6:54095691C>T	ENST00000502396.1	+	12	2930	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Silent_p.L431L|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000358276.5_Intron	NM_001281747.1	NP_001268676.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	431						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTCACACCCTCCTCAGTCACA	0.463000													12	60					0	0	0.000978159	0	0
RIMS2	9699	broad.mit.edu	37	8	105160951	105160951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:105160951C>T	ENST00000436393.2	+	23	3504	c.3263C>T	c.(3262-3264)tCt>tTt	p.S1088F	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	516					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGCCAGTCTGACACTGCA	0.517000										HNSCC(12;0.0054)			4	16					0	0	0.00024832	0	0
MFSD10	10227	broad.mit.edu	37	4	2934086	2934086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr4:2934086C>A	ENST00000329687.4	-	5	1219	c.685G>T	c.(685-687)Gag>Tag	p.E229*	MFSD10_ENST00000514800.1_Nonsense_Mutation_p.E229*|MFSD10_ENST00000355443.4_Nonsense_Mutation_p.E229*|MFSD10_ENST00000508221.1_Nonsense_Mutation_p.E229*|MFSD10_ENST00000507555.1_Nonsense_Mutation_p.E229*	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	229					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACCCGTTTCTCCAGGGGCAGC	0.622000													6	19					0.00116845	0.00989376	0.00116845	1	0
CPSF1	29894	broad.mit.edu	37	8	145622615	145622615	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr8:145622615G>C	ENST00000349769.3	-	23	2493	c.2399C>G	c.(2398-2400)cCc>cGc	p.P800R		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	800					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGCCAGTCGGGAAGCTGGTA	0.647000													2	3					0	0	6.4e-05	0	0
KDM6B	23135	broad.mit.edu	37	17	7749991	7749991	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:7749991C>T	ENST00000254846.5	+	8	1033	c.644C>T	c.(643-645)tCa>tTa	p.S215L	KDM6B_ENST00000448097.2_Missense_Mutation_p.S215L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	215	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGCACTCTCAGGCCCCTCA	0.637000													15	86					0	0	0.000308642	0	0
SEMA4C	54910	broad.mit.edu	37	2	97530101	97530101	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr2:97530101C>T	ENST00000305476.5	-	10	1113	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	327	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CACAGATGGCCGACAGGTACA	0.582000													16	162					0	0	0.00074312	0	0
RAG2	5897	broad.mit.edu	37	11	36615460	36615460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr11:36615460C>G	ENST00000311485.3	-	2	420	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	87					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGATGCTTTTCAGACTCCAAG	0.418000									Familial Hemophagocytic Lymphohistiocytosis				20	366					0	0	0.00152264	0	0
ASS1	445	broad.mit.edu	37	9	133364826	133364826	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr9:133364826G>C	ENST00000372394.1	+	13	1426	c.945G>C	c.(943-945)ttG>ttC	p.L315F	ASS1_ENST00000372393.3_Missense_Mutation_p.L315F|ASS1_ENST00000352480.5_Missense_Mutation_p.L315F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	315					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCCTGGGCTTGAAATTTGCTG	0.542000													21	221					0	0	0.000375601	0	0
OR2M2	391194	broad.mit.edu	37	1	248344190	248344190	+	Silent	SNP	C	C	T			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr1:248344190C>T	ENST00000359682.2	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTAGAGCATTCATGAAGATCT	0.423000													21	105					0	0	0.00152264	0	0
KDM3B	51780	broad.mit.edu	37	5	137727502	137727502	+	Silent	SNP	G	G	A			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr5:137727502G>A	ENST00000314358.5	+	8	2381	c.2181G>A	c.(2179-2181)tcG>tcA	p.S727S	KDM3B_ENST00000394866.1_Silent_p.S383S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	727	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCTCCAGCTCGCCCACCAGCA	0.607000													10	77					0	0	0.000442599	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													3	5	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													2	4	---	---	---	---					
NUTM2A-AS1	728190	broad.mit.edu	37	10	88975874	88975876	+	RNA	DEL	TCT	TCT	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr10:88975874_88975876delTCT	ENST00000451940.2	-	0	600																											ACAGCTGAAGTCTTCTTGCACTT	0.547													8	47	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													2	4	---	---	---	---					
SMARCE1	6605	broad.mit.edu	37	17	38792242	38792247	+	In_Frame_Del	DEL	TGTCTC	TGTCTC	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr17:38792242_38792247delTGTCTC	ENST00000348513.6	-	7	1257_1262	c.477_482delGAGACA	c.(475-483)cagagacaa>caa	p.159_161QRQ>Q	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000400122.3_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000544009.1_In_Frame_Del_p.89_91QRQ>Q|SMARCE1_ENST00000377808.4_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000580419.1_In_Frame_Del_p.124_126QRQ>Q|SMARCE1_ENST00000431889.2_In_Frame_Del_p.141_143QRQ>Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	159					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				CATGCGAGATTGTCTCTGTCGACTTT	0.422													16	99	---	---	---	---					
ZNF180	7733	broad.mit.edu	37	19	44982133	44982134	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A2I2-01A-11D-A17V-08	TCGA-DK-A2I2-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	537e0d59-dd1c-479e-877f-eb9523c0967e	0840ead2-aecf-458d-b042-4b5acda453c8	g.chr19:44982133_44982134delCT	ENST00000221327.4	-	5	845_846	c.564_565delAG	c.(562-567)agagtcfs	p.RV188fs	ZNF180_ENST00000391956.4_Frame_Shift_Del_p.RV163fs|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Frame_Shift_Del_p.RV161fs	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V189I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTTTGCAGACTCTCTCATGAA	0.391													7	83	---	---	---	---					
