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
EIF2AK4	440275	broad.mit.edu	37	15	40241413	40241413	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40241413C>T	uc001zkm.1	+	3	507	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EIF2AK4_uc001zkl.3_Missense_Mutation_p.R153W	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	153					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCTGGAAAGGCGGGCTCAGGA	0.537000													47	73					0	0	0.870114	0	0
LEKR1	389170	broad.mit.edu	37	3	156763496	156763496	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:156763496A>G	uc021xgh.1	+	12	2150	c.2036A>G	c.(2035-2037)cAg>cGg	p.Q679R	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAGACTAGACAGAGACTGGCT	0.547000													30	53					0	0	0.740014	0	0
KLHL14	57565	broad.mit.edu	37	18	30349844	30349844	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:30349844C>T	uc002kxm.1	-	1	1099	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	237	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTGGAAGAGCGCCAGCTCCG	0.657000													10	28					0	0	0.335167	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	30					0	0	0.248553	0	0
EEF2	1938	broad.mit.edu	37	19	3977234	3977234	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:3977234G>A	uc002lze.3	-	13	2445	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	788						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGACGGGCAGATAGGCCTTG	0.617000													5	10					0	0	0.184627	0	0
ETV6	2120	broad.mit.edu	37	12	12022865	12022865	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:12022865C>A	uc001qzz.3	+	4	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q	ETV6_uc001raa.1_Missense_Mutation_p.P117Q	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	324						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTGTCTCCCCGCCTGAAGAG	0.587000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								3	94					0.150653	0.155848	0.150653	1	0
PRB1	5542	broad.mit.edu	37	12	11506691	11506691	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:11506691C>T	uc001qzw.1	-	2	383	c.346G>A	c.(346-348)Gga>Aga	p.G116R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGCTTTCCTGGAGGAGGT	0.612000													76	593					0	0	0.870114	0	0
C12orf51	283450	broad.mit.edu	37	12	112617095	112617095	+	Silent	SNP	G	G	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:112617095G>C	uc021reb.1	-	62	11088	c.10692C>G	c.(10690-10692)gtC>gtG	p.V3564V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AAATGTCAGAGACTCTGATGG	0.542000													6	13					0	0	0.217242	0	0
LMTK2	22853	broad.mit.edu	37	7	97823142	97823142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:97823142G>A	uc003upd.2	+	10	3658	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1122					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGGTCCCGGGAACCTCCCCA	0.607000													28	37					0	0	0.706142	0	0
TMEM9	252839	broad.mit.edu	37	1	201112999	201112999	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:201112999G>C	uc010ppo.2	-	4	519	c.423C>G	c.(421-423)atC>atG	p.I141M	TMEM9_uc001gvx.3_Missense_Mutation_p.I116M|TMEM9_uc001gvy.3_Missense_Mutation_p.I116M|TMEM9_uc001gvz.3_Missense_Mutation_p.I119M|TMEM9_uc001gwa.3_Missense_Mutation_p.I116M	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	116					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CCGGCTTTCGGATCAGAGGGT	0.572000													4	42					0	0	0.184627	0	0
GFM2	84340	broad.mit.edu	37	5	74034187	74034187	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:74034187A>C	uc010izj.1	-	14	1698	c.1372T>G	c.(1372-1374)Tca>Gca	p.S458A	GFM2_uc003kdh.1_Missense_Mutation_p.S426A|GFM2_uc003kdi.1_Missense_Mutation_p.S379A|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.S426A	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	426					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGTCAATGAAGGGATTTCT	0.333000													74	74					0	0	0.870114	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717481	222717481	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:222717481C>T	uc001hnh.1	-	1	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	124					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597000													34	140					0	0	0.804634	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308171	140308171	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:140308171T>C	uc003lih.2	+	0	1870	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.V565A	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	589	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGTTCTGTCCCAGTGGAA	0.473000													7	97					0	0	0.278610	0	0
ZNF814	730051	broad.mit.edu	37	19	58385268	58385268	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:58385268C>T	uc002qqo.2	-	2	1762	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	497					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGATTTCCCACATTCTCCACA	0.448000													4	27					0	0	0.150653	0	0
BUB1B	701	broad.mit.edu	37	15	40509802	40509802	+	Silent	SNP	C	C	T	rs139066741	by1000genomes	TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40509802C>T	uc001zkx.4	+	20	2996	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	PAK6_uc010bbl.3_5'UTR|PAK6_uc010bbm.3_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	928	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACCCTCAGCGGCTTTCGGA	0.443000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				92	260					0	0	0.870114	0	0
FOSB	2354	broad.mit.edu	37	19	45974181	45974181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:45974181C>T	uc002pbx.4	+	1	1013	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.R141W|FOSB_uc010eka.1_Missense_Mutation_p.R102W|FOSB_uc010ekb.1_Missense_Mutation_p.R141W|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.R141W|FOSB_uc010eke.3_Missense_Mutation_p.R102W|FOSB_uc002pby.4_Missense_Mutation_p.R141W|FOSB_uc010ekf.3_Missense_Mutation_p.R102W|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Missense_Mutation_p.R92W	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	141					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCCCGAGCCCGGCCTAGGAG	0.632000													14	26					0	0	0.520397	0	0
NLRP1	22861	broad.mit.edu	37	17	5437261	5437261	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:5437261A>T	uc002gci.3	-	8	3563	c.3008T>A	c.(3007-3009)aTg>aAg	p.M1003K	NLRP1_uc002gcg.1_Missense_Mutation_p.M1003K|NLRP1_uc002gch.4_Missense_Mutation_p.M1003K|NLRP1_uc002gck.3_Missense_Mutation_p.M1003K|NLRP1_uc002gcj.3_Missense_Mutation_p.M973K|NLRP1_uc002gcl.3_Missense_Mutation_p.M973K|NLRP1_uc010clh.3_Missense_Mutation_p.M1003K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1003					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.M1003I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTATTACTCATCTCTCCCGT	0.537000													7	325					0	0	0.278610	0	0
ATRX	546	broad.mit.edu	37	X	76764102	76764102	+	Silent	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76764102G>T	uc004ecp.4	-	34	7438	c.7206C>A	c.(7204-7206)atC>atA	p.I2402I	ATRX_uc004ecq.4_Silent_p.I2364I|ATRX_uc004eco.4_Silent_p.I2187I	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2402					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAACACAGCTGATTAACTATA	0.403000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						7	183					0.0381472	0.0399215	0.278610	1	0
VPS13B	157680	broad.mit.edu	37	8	100396486	100396486	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:100396486A>C	uc003yiv.3	+	19	2986	c.2875A>C	c.(2875-2877)Atc>Ctc	p.I959L	VPS13B_uc003yiw.3_Missense_Mutation_p.I959L|VPS13B_uc003yiu.1_Missense_Mutation_p.I959L|VPS13B_uc003yix.1_Missense_Mutation_p.I430L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	959					protein transport			p.P958Q(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTGACCCAATCTTATATAC	0.308000													4	86					0	0	0.150653	0	0
MST1P9	11223	broad.mit.edu	37	1	17085078	17085078	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:17085078T>C	uc010ock.2	-	10	1397	c.1397A>G	c.(1396-1398)cAg>cGg	p.Q466R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.Q40R					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						AAACTGCACCTGGTCTGTAGG	0.612000													4	31					0	0	0.361761	0	0
HDAC5	10014	broad.mit.edu	37	17	42169818	42169818	+	Missense_Mutation	SNP	G	G	A	rs138137922		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:42169818G>A	uc002iff.1	-	7	1185	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	HDAC5_uc002ifd.1_Missense_Mutation_p.R284C|HDAC5_uc002ife.1_Missense_Mutation_p.R284C|HDAC5_uc010czp.1_Missense_Mutation_p.R284C|HDAC5_uc002ifh.2_Missense_Mutation_p.R284C	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	284					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.R284S(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCATCCTTGCGACGCAGGAGG	0.537000													9	12					0	0	0.335167	0	0
YSK4	80122	broad.mit.edu	37	2	135744754	135744754	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:135744754G>A	uc002tue.1	-	6	1719	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T450I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T291I|YSK4_uc002tui.4_Missense_Mutation_p.T580I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	563							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTATGCATGGTAGGCTTAAT	0.423000													16	97					0	0	0.479597	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118890880	118890880	+	Missense_Mutation	SNP	A	A	C	rs78676902		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:118890880A>C	uc010ryo.2	+	2	636	c.371A>C	c.(370-372)cAg>cCg	p.Q124P	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.2_Missense_Mutation_p.Q124P|TRAPPC4_uc010ryp.2_Intron|TRAPPC4_uc010ryq.2_Missense_Mutation_p.Q124P	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	Homo sapiens trafficking protein particle complex 4 (TRAPPC4), mRNA.	124					ER to Golgi vesicle-mediated transport|dendrite development	Golgi stack|cis-Golgi network|dendrite|endoplasmic reticulum|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ATCGGCTCCCAGCTGTCTCCT	0.498000													6	59					0	0	0.335167	0	0
ANK2	287	broad.mit.edu	37	4	114280346	114280346	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:114280346C>T	uc003ibe.4	+	37	10672	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T3539T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473000													16	66					0	0	0.500413	0	0
PCLO	27445	broad.mit.edu	37	7	82579784	82579784	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:82579784A>G	uc003uhx.2	-	5	10409	c.10120T>C	c.(10120-10122)Tac>Cac	p.Y3374H	PCLO_uc003uhv.2_Missense_Mutation_p.Y3374H|PCLO_uc010lec.3_Missense_Mutation_p.Y339H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3305					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAACGGTGTACCATCCTTGG	0.463000													3	46					0	0	0.115264	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840125	27840125	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:27840125C>T	uc022bud.1	+	0	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	MAGEB10_uc004dbw.3_Silent_p.D234D	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	234	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTTATATGACGGAATTGAGC	0.468000													8	40					0	0	0.278610	0	0
PSMD3	5709	broad.mit.edu	37	17	38151212	38151212	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38151212C>G	uc002htn.1	+	6	1151	c.987C>G	c.(985-987)caC>caG	p.H329Q	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.H230Q	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	329					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCAGGTGCACAAGCTTCTCA	0.572000													19	40					0	0	0.539581	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								22	47					0	0	0.639603	0	0
CCR7	1236	broad.mit.edu	37	17	38711759	38711759	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38711759G>A	uc002huw.3	-	2	447	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	124					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGTGGACACCGAAGACCCAGG	0.552000													19	20					0	0	0.575678	0	0
PLCG1	5335	broad.mit.edu	37	20	39795459	39795459	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:39795459A>G	uc002xjp.1	+	18	2382	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	PLCG1_uc002xjo.1_Missense_Mutation_p.Y754C|PLCG1_uc010zwe.1_Missense_Mutation_p.Y380C|PLCG1_uc010ggf.3_Missense_Mutation_p.Y104C	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	754	SH2 2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGCTGCGCTATCCCATCAAC	0.562000													31	50					0	0	0.769981	0	0
FNDC3A	22862	broad.mit.edu	37	13	49710555	49710555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:49710555G>A	uc001vcm.3	+	5	883	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FNDC3A_uc001vcl.1_Missense_Mutation_p.R193H|FNDC3A_uc001vcn.3_Missense_Mutation_p.R193H|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.R137H|FNDC3A_uc001vcq.3_Missense_Mutation_p.R137H	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	193						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTGAAGGATCGCCAAGGAACA	0.388000													27	25					0	0	0.667858	0	0
NGDN	25983	broad.mit.edu	37	14	23940135	23940135	+	Silent	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:23940135A>G	uc001wjy.3	+	2	120	c.93A>G	c.(91-93)caA>caG	p.Q31Q	NGDN_uc001wjz.3_Silent_p.Q31Q	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	31					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TAACTGCACAAGTGAAATCAC	0.368000													5	94					0	0	0.248553	0	0
COG5	10466	broad.mit.edu	37	7	107204267	107204267	+	Silent	SNP	G	G	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:107204267G>C	uc003vec.2	-	0	693	c.168C>G	c.(166-168)gtC>gtG	p.V56V	COG5_uc003ved.2_Silent_p.V56V|COG5_uc003vee.2_Silent_p.V56V|DUS4L_uc003veh.3_5'Flank|DUS4L_uc011klw.2_5'Flank|DUS4L_uc011klx.2_5'Flank|DUS4L_uc022ajw.1_5'Flank	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	56					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAGTTCCCGGACTGTAGCTG	0.667000													10	20					0	0	0.361761	0	0
UQCC	55245	broad.mit.edu	37	20	33969807	33969807	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:33969807G>T	uc002xcd.3	-	3	426	c.247C>A	c.(247-249)Cca>Aca	p.P83T	UQCC_uc010zuy.2_5'UTR|UQCC_uc021wcl.1_Missense_Mutation_p.P37T|UQCC_uc010zva.2_Intron|UQCC_uc010gfb.3_Missense_Mutation_p.P83T|UQCC_uc010zvb.2_Intron|UQCC_uc002xcg.3_5'UTR|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.P37T|UQCC_uc010gfd.2_Missense_Mutation_p.P69T|RN7SK_uc021wcm.1_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83						cytoplasmic membrane-bounded vesicle		p.P83T(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGGCTGTGGGGAATCTTTG	0.358000													5	134					0.184627	0.188823	0.184627	1	0
MST1P9	11223	broad.mit.edu	37	1	17084292	17084292	+	Silent	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:17084292A>G	uc010ock.2	-	12	1725	c.1725T>C	c.(1723-1725)ccT>ccC	p.P575P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.P175P					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGGTCCCTGGAGGCACCACAT	0.587000													25	159					0	0	0.667858	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185393095	185393095	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:185393095G>A	uc003fpo.3	-	8	1139	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IGF2BP2_uc010hyi.3_Silent_p.L297L|IGF2BP2_uc010hyj.3_Silent_p.L291L|IGF2BP2_uc010hyk.3_Silent_p.L218L|IGF2BP2_uc010hyl.3_Silent_p.L291L|IGF2BP2_uc003fpp.3_Silent_p.L354L|IGF2BP2_uc003fpq.3_Silent_p.L359L	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	354					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTAACAGCCAGCATATCATTT	0.463000													15	123					0	0	0.500413	0	0
FGD6	55785	broad.mit.edu	37	12	95535225	95535225	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:95535225G>A	uc001tdp.4	-	5	3000	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	FGD6_uc009zsx.3_Missense_Mutation_p.P59S	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	926	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACAGCTGAGGCAAGTAGTAT	0.448000													4	76					0	0	0.184627	0	0
MST1P9	11223	broad.mit.edu	37	1	17084293	17084293	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:17084293G>T	uc010ock.2	-	12	1724	c.1724C>A	c.(1723-1725)cCt>cAt	p.P575H	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.P175H					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGTCCCTGGAGGCACCACATA	0.587000													24	157					7.88262e-20	8.75847e-20	0.654019	1	0
RAG1	5896	broad.mit.edu	37	11	36596675	36596675	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:36596675C>T	uc021qgb.1	+	0	1821	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.D607D	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	607					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G606G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468000									Familial Hemophagocytic Lymphohistiocytosis				10	29					0	0	0.361761	0	0
CLDN4	1364	broad.mit.edu	37	7	73245693	73245693	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:73245693C>T	uc003tzi.4	+	0	501	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	54					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GGATGAACTGCGTGGTGCAGA	0.642000													3	40					0	0	0.150653	0	0
SEC24D	9871	broad.mit.edu	37	4	119649799	119649799	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:119649799G>A	uc003ici.4	-	21	3147	c.2875C>T	c.(2875-2877)Ctg>Ttg	p.L959L	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.L960L	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	959					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTTCAGGCAGCAATGTCTTA	0.303000													9	44					0	0	0.335167	0	0
MDM4	4194	broad.mit.edu	37	1	204518349	204518349	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:204518349A>C	uc001hba.3	+	10	1178	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T211P|MDM4_uc001hay.2_Missense_Mutation_p.T288P|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T211P|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	338					G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCAAAGTTAACCCATTCTCT	0.428000			A		"""GBM, bladder, retinoblastoma"""								15	116					0	0	0.539581	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848964	131848964	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:131848964G>A	uc003vra.4	-	23	4666	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1479						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCGGGCCTCGCCCGTGATGG	0.592000													7	29					0	0	0.278610	0	0
FCGBP	8857	broad.mit.edu	37	19	40408740	40408740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:40408740C>T	uc002omp.4	-	7	4107	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1367	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGTAGGCCACACGCAGG	0.587000													16	30					0	0	0.500413	0	0
AATF	26574	broad.mit.edu	37	17	35345964	35345964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:35345964G>A	uc002hni.3	+	5	1345	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	365	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TACAGGAACCGCACACTTCAG	0.507000													4	43					0	0	0.150653	0	0
SCMH1	22955	broad.mit.edu	37	1	41579187	41579187	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:41579187C>T	uc001cgo.3	-	7	852	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Silent_p.S100S|SCMH1_uc001cgr.3_Silent_p.S100S|SCMH1_uc001cgq.3_Silent_p.S114S|SCMH1_uc001cgs.3_Silent_p.S171S|SCMH1_uc001cgt.3_Silent_p.S100S|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	161					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGTGGGAAGGCGATGGTGGCT	0.443000													13	20					0	0	0.435327	0	0
HRNR	388697	broad.mit.edu	37	1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:152188371G>T	uc001ezt.1	-	2	5810	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1912					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTTGTTCACCCCTA	0.557000													119	1647					7.65386e-43	8.61059e-43	0.870114	1	0
PRB1	5542	broad.mit.edu	37	12	11506690	11506690	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.612000													76	590					0	0	0.870114	0	0
WNK1	65125	broad.mit.edu	37	12	989896	989896	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:989896C>T	uc021qss.1	+	11	4265	c.3622C>T	c.(3622-3624)Cct>Tct	p.P1208S	WNK1_uc001qio.4_Missense_Mutation_p.P948S|WNK1_uc021qst.1_Intron|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	948					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGCTTCCCACCTCGACTGCC	0.468000													16	466					0	0	0.520397	0	0
ITIH2	3698	broad.mit.edu	37	10	7780699	7780699	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr10:7780699G>A	uc001ijs.3	+	15	2235	c.2073G>A	c.(2071-2073)acG>acA	p.T691T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	691					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGAGTCCACGCCACCCCCAC	0.562000													12	38					0	0	0.387290	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			21	3					0	0	0.608945	0	0
KRT73	319101	broad.mit.edu	37	12	53008406	53008406	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:53008406G>A	uc001sas.3	-	3	811	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATCCAGGGCATCCACCTT	0.542000													5	42					0	0	0.217242	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135825810	135825810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:135825810C>A	uc004fab.3	-	4	1057	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF6_uc011mwd.2_Nonsense_Mutation_p.E45*|ARHGEF6_uc011mwe.2_Nonsense_Mutation_p.E45*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	199	SH3.			E -> G (in Ref. 2; CAD97632).	JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AATGTGCCTTCCCACCAGCCT	0.408000													13	207					0.00136819	0.00146592	0.411799	1	0
PRND	23627	broad.mit.edu	37	20	4705632	4705632	+	Silent	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:4705632C>T	uc021waf.1	+	0	435	c.435C>T	c.(433-435)tgC>tgT	p.C145C	PRND_uc002wkz.3_Silent_p.C145C	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	145	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAAGCATTGCGAGTTTTGGT	0.602000													8	33					0	0	0.278610	0	0
EPPK1	83481	broad.mit.edu	37	8	144942235	144942235	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:144942235G>A	uc003zaa.1	-	0	5200	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622000													33	47					0	0	0.750413	0	0
FBF1	85302	broad.mit.edu	37	17	73924171	73924171	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:73924171T>G	uc002jqc.3	-	6	615	c.341A>C	c.(340-342)cAc>cCc	p.H114P	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.H104P|FBF1_uc002jqd.1_Missense_Mutation_p.H114P	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	114								p.H114P(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AGGCTTGGGGTGGTTGGGCAG	0.537000													6	20					0	0	0.457914	0	0
CFHR5	81494	broad.mit.edu	37	1	196973949	196973949	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:196973949T>C	uc001gts.4	+	8	1617	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	497	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAATAAACAGTGGTCAGAACC	0.378000													24	51					0	0	0.667858	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118114	118114	+	RNA	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrGL000205.1:118114C>T	uc002kgk.4	+	0		c.1492C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTCTCACTGCCTGCTACAGCC	0.552000													7	34					0	0	0.278610	0	0
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						38	92					0	0	0.840704	0	0
PIGS	94005	broad.mit.edu	37	17	26890906	26890906	+	Silent	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:26890906G>A	uc002hbo.2	-	3	679	c.306C>T	c.(304-306)tgC>tgT	p.C102C	PIGS_uc002hbn.2_Silent_p.C94C|PIGS_uc010wap.1_Silent_p.C41C	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	102					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTGGAAACGGCATTTGATTT	0.512000													4	109					0	0	0.150653	0	0
FLNB	2317	broad.mit.edu	37	3	58094210	58094210	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:58094210A>G	uc003djj.2	+	12	2132	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	FLNB_uc010hne.2_Missense_Mutation_p.E656G|FLNB_uc003djk.2_Missense_Mutation_p.E656G|FLNB_uc010hnf.2_Missense_Mutation_p.E656G|FLNB_uc003djl.2_Missense_Mutation_p.E487G|FLNB_uc003djm.2_Missense_Mutation_p.E487G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	656					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGGTTTGGAGAAATCTGGA	0.448000													12	19					0	0	0.411799	0	0
KCNMB4	27345	broad.mit.edu	37	12	70824288	70824288	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:70824288G>A	uc001svx.3	+	2	941	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTTCTGCATCGCACTCATGAT	0.488000													16	128					0	0	0.557998	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36776075	36776075	+	Silent	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:36776075A>G	uc010tei.2	-	6	750	c.435T>C	c.(433-435)gtT>gtC	p.V145V	CCDC169-SOHLH2_uc001uvj.3_Silent_p.V68V	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	145					regulation of transcription, DNA-dependent	nucleus											CCTTCAAGAGAACCATGTTGA	0.423000													21	60					0	0	0.608945	0	0
TTN	7273	broad.mit.edu	37	2	179470362	179470362	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:179470362C>T	uc021vsy.1	-	227	46181	c.45956G>A	c.(45955-45957)cGc>cAc	p.R15319H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9014H|TTN_uc021vta.1_Missense_Mutation_p.R8947H|TTN_uc021vtb.1_Missense_Mutation_p.R8822H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16246	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15318*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTACTGCGGGGCTCTTT	0.473000													5	87					0	0	0.184627	0	0
STK10	6793	broad.mit.edu	37	5	171520604	171520604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:171520604C>T	uc003mbo.1	-	8	1666	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	456							ATP binding|protein serine/threonine kinase activity	p.A456A(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTCCAGGGCGCTGCTGTTG	0.647000													8	46					0	0	0.335167	0	0
IFIH1	64135	broad.mit.edu	37	2	163134056	163134056	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:163134056A>C	uc002uce.3	-	9	2135	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	638					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TATGACTGCAAACTTCTTATC	0.353000													17	18					0	0	0.520397	0	0
SORL1	6653	broad.mit.edu	37	11	121421301	121421301	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:121421301A>G	uc001pxx.3	+	15	2317	c.2188A>G	c.(2188-2190)Aag>Gag	p.K730E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	730					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTACCGGAAGATTTCTGG	0.557000													7	59					0	0	0.248553	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969496	140969496	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:140969496C>A	uc011mwp.2	+	3	823	c.823C>A	c.(823-825)Ctc>Atc	p.L275I		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	275	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAACCGCCTCCTGATTCT	0.502000													31	203					2.85442e-18	3.1329e-18	0.750413	1	0
CCDC88C	440193	broad.mit.edu	37	14	91755473	91755473	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:91755473C>T	uc010aty.3	-	24	4571	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1473					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCGTTGTGGGCGTCGCGCTCT	0.701000													6	18					0	0	0.217242	0	0
CTAGE5	4253	broad.mit.edu	37	14	39784908	39784908	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:39784908G>A	uc001wvi.4	+	15	1729	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	CTAGE5_uc010tqe.1_Missense_Mutation_p.A422T|CTAGE5_uc001wuy.4_Missense_Mutation_p.A380T|CTAGE5_uc001wuz.4_Missense_Mutation_p.A448T|CTAGE5_uc001wva.4_Missense_Mutation_p.A431T|CTAGE5_uc001wvb.4_Missense_Mutation_p.A431T|CTAGE5_uc001wvc.4_Missense_Mutation_p.A405T|CTAGE5_uc001wvf.4_Missense_Mutation_p.A385T|CTAGE5_uc001wvg.4_Missense_Mutation_p.A460T|CTAGE5_uc001wvh.4_Missense_Mutation_p.A460T|CTAGE5_uc010amz.3_Missense_Mutation_p.A76T|CTAGE5_uc001wvj.4_Missense_Mutation_p.A431T	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	460							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGAGAAAAAAGCACATGATAA	0.254000													21	76					0	0	0.667858	0	0
SHH	6469	broad.mit.edu	37	7	155599004	155599004	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:155599004C>T	uc003wmk.1	-	1	699	c.548G>A	c.(547-549)tGc>tAc	p.C183Y	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.C96Y|SHH_uc003wmj.1_Missense_Mutation_p.C96Y	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	183			C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3).		CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCACCGAGCAGTGGATATG	0.622000													23	75					0	0	0.654019	0	0
PCDH12	51294	broad.mit.edu	37	5	141335138	141335138	+	Missense_Mutation	SNP	C	C	T	rs139572685		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:141335138C>T	uc003llx.3	-	0	3490	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	760					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCTGGCGGTAGGTGGA	0.587000													3	41					0	0	0.150653	0	0
SVEP1	79987	broad.mit.edu	37	9	113139596	113139596	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr9:113139596C>A	uc010mtz.3	-	44	10796	c.10459G>T	c.(10459-10461)Gct>Tct	p.A3487S	SVEP1_uc010mty.3_Missense_Mutation_p.A1413S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3487					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGAACAAGCATTTGGGCGT	0.507000													18	37					2.94398e-08	3.19227e-08	0.557998	1	0
ASB9	140462	broad.mit.edu	37	X	15272893	15272893	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:15272893G>A	uc004cwl.3	-	2	545	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ASB9_uc004cwm.3_Missense_Mutation_p.S83F|ASB9_uc004cwk.3_Missense_Mutation_p.S83F|ASB9_uc010ner.3_Missense_Mutation_p.S83F|ASB9_uc004cwn.2_Missense_Mutation_p.S83F	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	83					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTCACACAAGAGAGATGACC	0.443000													25	194					0	0	0.667858	0	0
PTPRF	5792	broad.mit.edu	37	1	44079328	44079328	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:44079328C>T	uc001cjr.3	+	22	4353	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	PTPRF_uc001cjs.3_Missense_Mutation_p.A1329V|PTPRF_uc001cju.3_Missense_Mutation_p.A727V|PTPRF_uc009vwt.3_Missense_Mutation_p.A898V|PTPRF_uc001cjv.3_Missense_Mutation_p.A809V|PTPRF_uc001cjw.3_Missense_Mutation_p.A564V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1338					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGACCTGGCGGACAACATC	0.597000													19	42					0	0	0.539581	0	0
CTC1	80169	broad.mit.edu	37	17	8132163	8132163	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:8132163T>C	uc002gkq.4	-	20	3328	c.3269A>G	c.(3268-3270)aAt>aGt	p.N1090S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1090					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACATGGTGATTCCTACAGGT	0.567000													4	18					0	0	0.150653	0	0
TAF6	6878	broad.mit.edu	37	7	99711904	99711904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:99711904delC	uc003uth.3	-	0	237	c.100delG	c.(100-102)gttfs	p.V34fs	TAF6_uc003utg.3_5'Flank|TAF6_uc003utm.3_Intron|TAF6_uc003uti.3_Intron|TAF6_uc003utk.3_Intron|TAF6_uc011kji.2_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	655					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGAGGAACGGGGCAGGCA	0.567													18	14	---	---	---	---					
REXO1L1	254958	broad.mit.edu	37	8	86574438	86574439	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:86574438_86574439delAC	uc022axf.1	-	0	1288_1289	c.1288_1289delGT	c.(1288-1290)gtafs	p.V430fs		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	430	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CTGGTCGCGTACACAGCGGCCC	0.658													4	5	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68414062	68414063	+	RNA	INS	-	-	CGC	rs74734751		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr9:68414062_68414063insCGC	uc004aex.3	+	0		c.617_618insCGC								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCTTCTGCCTGTGCAGCCTGGC	0.658													3	5	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245951	46245960	+	Frame_Shift_Del	DEL	ATCAAAAGTG	ATCAAAAGTG	-			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:46245951_46245960delATCAAAAGTG	uc001ros.1	+	14	4045_4054	c.4045_4054delATCAAAAGTG	c.(4045-4056)atcaaaagtgatfs	p.I1349fs	ARID2_uc001ror.3_Frame_Shift_Del_p.I1349fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.I805fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.I976fs|ARID2_uc001rou.1_Frame_Shift_Del_p.I683fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1349					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCAAGATATCAAAAGTGATTTGAGAAA	0.357			"""N, S, F"""		hepatocellular carcinoma								19	42	---	---	---	---					
SEZ6	124925	broad.mit.edu	37	17	27296913	27296914	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:27296913_27296914insC	uc002hdp.2	-	3	1109_1110	c.915_916insG	c.(913-918)gggcctfs	p.G305fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Ins_p.G305fs|SEZ6_uc002hdq.1_Frame_Shift_Ins_p.G180fs|SEZ6_uc010crz.1_Frame_Shift_Ins_p.G305fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	305						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGTGGGTCAGGCCCCCCCAGGC	0.614													8	31	---	---	---	---					
