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	ENST00000263791.5	+	4	500	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R153W|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R153W	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	153					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|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	ENST00000470811.1	+	14	2459	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R	LEKR1_ENST00000356539.4_Missense_Mutation_p.Q679R			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	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	ENST00000359358.4	-	2	1149	c.711G>A	c.(709-711)gcG>gcA	p.A237A	AC012123.1_ENST00000426194.1_Silent_p.S24S|KLHL14_ENST00000358095.4_Silent_p.A237A	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	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	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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	ENST00000309311.6	-	14	2450	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	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	ENST00000396373.4	+	5	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	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	0.155789	0.150653	1	0
HECTD4	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	ENST00000550722.1	-	63	11051	c.10656C>G	c.(10654-10656)gtC>gtG	p.V3552V	HECTD4_ENST00000430131.2_Silent_p.V3276V|HECTD4_ENST00000377560.5_Silent_p.V3526V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		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	ENST00000297293.5	+	11	3658	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1122					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|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	ENST00000367330.1	-	4	864	c.348C>G	c.(346-348)atC>atG	p.I116M	TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367334.5_Missense_Mutation_p.I116M|TMEM9_ENST00000367333.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367332.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367329.1_Missense_Mutation_p.I116M			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	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	ENST00000296805.3	-	14	1733	c.1276T>G	c.(1276-1278)Tca>Gca	p.S426A	GFM2_ENST00000509430.1_Missense_Mutation_p.S426A|GFM2_ENST00000345239.2_Missense_Mutation_p.S379A|GFM2_ENST00000427854.2_Missense_Mutation_p.S426A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	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	ENST00000343410.6	-	2	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	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
PCDHAC1	0	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	ENST00000253807.2	+	1	1694	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V565A|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			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	ENST00000435989.2	-	3	1724	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	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	ENST00000287598.6	+	21	2979	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR|RP11-133K1.2_ENST00000558658.1_Silent_p.S5S|BUB1B_ENST00000412359.3_Silent_p.S942S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	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	ENST00000353609.3	+	2	1013	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	FOSB_ENST00000585836.1_Missense_Mutation_p.R102W|FOSB_ENST00000592436.1_Missense_Mutation_p.R141W|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.R102W|FOSB_ENST00000586615.1_Missense_Mutation_p.R92W|FOSB_ENST00000592811.1_Missense_Mutation_p.R92W|FOSB_ENST00000417353.2_Missense_Mutation_p.R141W|FOSB_ENST00000590335.1_Missense_Mutation_p.R141W	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	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	ENST00000345221.3	-	9	3562	c.3008T>A	c.(3007-3009)aTg>aAg	p.M1003K	NLRP1_ENST00000269280.4_Missense_Mutation_p.M1003K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.M1003K|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1003K|NLRP1_ENST00000577119.1_Missense_Mutation_p.M973K|NLRP1_ENST00000354411.3_Missense_Mutation_p.M973K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1003					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			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	ENST00000373344.5	-	35	7420	c.7206C>A	c.(7204-7206)atC>atA	p.I2402I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.I2364I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2402					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|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	0.0399011	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	ENST00000395996.1	+	20	2986	c.2875A>C	c.(2875-2877)Atc>Ctc	p.I959L	VPS13B_ENST00000358544.2_Missense_Mutation_p.I959L|VPS13B_ENST00000357162.2_Missense_Mutation_p.I959L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	959					protein transport					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
HCG17	0	broad.mit.edu	37	6	30228186	30228186	+	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.chr6:30228186C>T	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							ATGAACAGTTCGCCTACGATG	0.642000													4	38					0	0	0.150653	0	0
MST1L	0	broad.mit.edu	37	1	17085078	17085078	+	RNA	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	ENST00000455405.2	-	0	110																											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	ENST00000225983.6	-	8	1176	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	HDAC5_ENST00000586802.1_Missense_Mutation_p.R284C|HDAC5_ENST00000393622.2_Missense_Mutation_p.R284C|HDAC5_ENST00000336057.5_Missense_Mutation_p.R284C			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	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	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.R284S(1)		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
MAP3K19	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	ENST00000375845.3	-	7	1718	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T450I|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T580I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		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	ENST00000533632.1	+	3	735	c.371A>C	c.(370-372)cAg>cCg	p.Q124P	TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Q124P|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Q81P|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Q124P	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	124					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|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	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	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	ENST00000423517.2	-	6	10457	c.10120T>C	c.(10120-10122)Tac>Cac	p.Y3374H	PCLO_ENST00000333891.8_Missense_Mutation_p.Y3374H|PCLO_ENST00000437081.1_Missense_Mutation_p.Y94H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	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	ENST00000356790.2	+	3	947	c.702C>T	c.(700-702)gaC>gaT	p.D234D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	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
SNHG14	0	broad.mit.edu	37	15	25490658	25490658	+	RNA	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.chr15:25490658G>C	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						TTGTCCTGAAGAGAGGTGATG	0.498000													4	251					0	0	0.150653	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	ENST00000264639.4	+	7	1161	c.987C>G	c.(985-987)caC>caG	p.H329Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.H191Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	329					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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	ENST00000246657.2	-	3	434	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCR7_ENST00000579344.1_Silent_p.F118F	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	124					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|T cell costimulation	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	ENST00000373272.2	+	19	2666	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y754C|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y754C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	754	SH2 2.				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|T cell receptor signaling pathway	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	ENST00000492622.2	+	6	883	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R137H|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R193H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	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	ENST00000397154.3	+	3	106	c.93A>G	c.(91-93)caA>caG	p.Q31Q	NGDN_ENST00000408901.3_Silent_p.Q31Q			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	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	0	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	ENST00000393603.2	-	1	439	c.168C>G	c.(166-168)gtC>gtG	p.V56V	DUS4L_ENST00000498786.1_Intron|COG5_ENST00000347053.3_Silent_p.V56V|COG5_ENST00000297135.3_Silent_p.V56V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	56					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|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
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	ENST00000357272.4	+	13	2132	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	FLNB_ENST00000493452.1_Missense_Mutation_p.E487G|FLNB_ENST00000295956.4_Missense_Mutation_p.E656G|FLNB_ENST00000490882.1_Missense_Mutation_p.E656G|FLNB_ENST00000358537.3_Missense_Mutation_p.E656G|FLNB_ENST00000348383.5_Missense_Mutation_p.E656G|FLNB_ENST00000419752.2_Missense_Mutation_p.E487G|FLNB_ENST00000429972.2_Missense_Mutation_p.E656G			O75369	FLNB_HUMAN	filamin B, beta	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
MST1L	0	broad.mit.edu	37	1	17084292	17084292	+	RNA	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	ENST00000455405.2	-	0	516																											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	ENST00000382199.2	-	9	1155	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IGF2BP2_ENST00000421047.2_Silent_p.L297L|IGF2BP2_ENST00000346192.3_Silent_p.L354L|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.L360L	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	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	ENST00000343958.4	-	6	2999	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	FGD6_ENST00000546711.1_Missense_Mutation_p.P926S|FGD6_ENST00000549499.1_Missense_Mutation_p.P926S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	926	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|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
MST1L	0	broad.mit.edu	37	1	17084293	17084293	+	RNA	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	ENST00000455405.2	-	0	515																											GGTCCCTGGAGGCACCACATA	0.587000													24	157					7.88262e-20	8.74779e-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	ENST00000299440.5	+	2	1933	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	607					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			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	ENST00000435050.1	+	2	2842	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CLDN4_ENST00000431918.1_Silent_p.C54C|CLDN4_ENST00000340958.2_Silent_p.C54C			O14493	CLD4_HUMAN	claudin 4	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	ENST00000379735.5	-	22	3149	c.2878C>T	c.(2878-2880)Ctg>Ttg	p.L960L	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000280551.6_Silent_p.L959L|SEC24D_ENST00000511481.1_Silent_p.L590L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	959					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi 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	ENST00000367182.3	+	11	1174	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Missense_Mutation_p.T288P|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	338					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|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	ENST00000359827.3	-	24	5399	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G	PLXNA4_ENST00000321063.4_Silent_p.G1479G			Q9HCM2	PLXA4_HUMAN	plexin A4	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	ENST00000221347.6	-	8	4106	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	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	ENST00000225402.5	+	6	1345	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	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	ENST00000402904.2	-	8	851	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SCMH1_ENST00000326197.7_Silent_p.S161S|SCMH1_ENST00000372596.1_Silent_p.S100S|SCMH1_ENST00000397171.2_Silent_p.S100S|SCMH1_ENST00000372597.1_Silent_p.S114S|SCMH1_ENST00000397174.2_Silent_p.S141S|SCMH1_ENST00000361191.5_Silent_p.S100S|SCMH1_ENST00000372595.1_Silent_p.S100S|SCMH1_ENST00000337495.5_Silent_p.S171S|SCMH1_ENST00000361705.3_Silent_p.S114S|SCMH1_ENST00000456518.2_Intron	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	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	ENST00000368801.2	-	3	5809	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	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	8.59878e-43	0.870114	1	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	ENST00000537687.1	+	12	4265	c.3622C>T	c.(3622-3624)Cct>Tct	p.P1208S	WNK1_ENST00000315939.6_Missense_Mutation_p.P948S|WNK1_ENST00000340908.4_Missense_Mutation_p.P541S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1446S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	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	ENST00000358415.4	+	16	2239	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	ITIH2_ENST00000379587.4_Silent_p.T680T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	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	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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	ENST00000305748.3	-	4	810	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	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	ENST00000250617.6	-	5	1800	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E45*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	199	SH3.			E -> G (in Ref. 2; CAD97632).	apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|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	0.00146477	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	ENST00000305817.2	+	2	506	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	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	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	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	ENST00000586717.1	-	7	614	c.341A>C	c.(340-342)cAc>cCc	p.H114P	FBF1_ENST00000319129.5_Missense_Mutation_p.H114P|FBF1_ENST00000389570.4_Missense_Mutation_p.H114P			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	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
MBP	4155	broad.mit.edu	37	18	74729068	74729068	+	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.chr18:74729068G>A	ENST00000397860.3	-	4	510	c.296C>T	c.(295-297)gCc>gTc	p.A99V	MBP_ENST00000397863.1_Missense_Mutation_p.A99V|MBP_ENST00000579129.1_Missense_Mutation_p.A99V|MBP_ENST00000354542.4_5'UTR|MBP_ENST00000355994.2_Missense_Mutation_p.A99V|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.A99V	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	99					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CCTCCCCGGGGCATCTCGGGA	0.632000													3	41					0	0	0.115264	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	ENST00000367414.5	+	9	1617	c.1561T>C	c.(1561-1563)Tgg>Cgg	p.W521R	CFHR5_ENST00000256785.4_Missense_Mutation_p.W497R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	497	Sushi 9.		L -> I (in dbSNP:rs35957013).		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
CTD-3074O7.2	0	broad.mit.edu	37	11	66326855	66326855	+	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.chr11:66326855C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CCCAGGAGCTCAAGTAggcgg	0.731000													4	6					0	0	0.150653	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	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1426*(1)|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	ENST00000308360.7	-	4	681	c.306C>T	c.(304-306)tgC>tgT	p.C102C	PIGS_ENST00000543734.1_Silent_p.C41C|PIGS_ENST00000395346.2_Silent_p.C94C	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	102					attachment of GPI anchor to protein|C-terminal protein lipidation	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
UQCC	0	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	ENST00000397554.1	-	4	257	c.247C>A	c.(247-249)Cca>Aca	p.P83T	UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Missense_Mutation_p.P83T|UQCC_ENST00000374385.5_Missense_Mutation_p.P83T|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000397556.3_5'UTR|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.P83T|UQCC_ENST00000359226.2_Missense_Mutation_p.P83T|UQCC_ENST00000349714.5_Missense_Mutation_p.P83T			Q9NVA1	UQCC_HUMAN		83						cytoplasmic membrane-bounded vesicle		p.P83T(1)		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	0.188776	0.184627	1	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	ENST00000258111.4	+	3	947	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	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
SOHLH2	54937	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	ENST00000379881.3	-	2	292	c.204T>C	c.(202-204)gtT>gtC	p.V68V	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.V145V|SOHLH2_ENST00000554962.1_Silent_p.V145V|SOHLH2_ENST00000317764.6_Silent_p.V68V	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		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	ENST00000589042.1	-	279	53884	c.53660G>A	c.(53659-53661)cGc>cAc	p.R17887H	TTN_ENST00000342992.6_Missense_Mutation_p.R15319H|TTN_ENST00000359218.5_Missense_Mutation_p.R8947H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8822H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9014H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16246H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16246	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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	ENST00000176763.5	-	9	1709	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	456							ATP binding|protein serine/threonine kinase activity			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	ENST00000263642.2	-	10	2308	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	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	ENST00000260197.7	+	16	2317	c.2188A>G	c.(2188-2190)Aag>Gag	p.K730E		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	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	ENST00000298296.1	+	4	823	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	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	3.12954e-18	0.750413	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	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.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	172					0	0	0.184627	0	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	ENST00000389857.6	-	25	4503	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1473					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain 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
RP11-407N17.3	0	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	ENST00000553728.1	+	20	3196	c.2983G>A	c.(2983-2985)Gca>Aca	p.A995T	CTAGE5_ENST00000557038.1_Missense_Mutation_p.A380T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A448T|CTAGE5_ENST00000341502.5_Missense_Mutation_p.A460T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A465T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A460T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A385T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A460T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A431T																							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	ENST00000297261.2	-	2	698	c.548G>A	c.(547-549)tGc>tAc	p.C183Y		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	183			C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|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 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 T cell differentiation in thymus|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	ENST00000231484.3	-	1	3489	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	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	ENST00000401783.2	-	45	10795	c.10459G>T	c.(10459-10461)Gct>Tct	p.A3487S	SVEP1_ENST00000297826.5_Missense_Mutation_p.A1413S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A3464S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	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	3.18931e-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	ENST00000546332.1	-	4	731	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S83F|ASB9_ENST00000380483.3_Missense_Mutation_p.S83F|ASB9_ENST00000380488.4_Missense_Mutation_p.S83F	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	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	ENST00000359947.4	+	23	4353	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	PTPRF_ENST00000372413.3_Missense_Mutation_p.A1329V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1329V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A697V|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1338V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	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	ENST00000315684.8	-	21	3276	c.3269A>G	c.(3268-3270)aAt>aGt	p.N1090S		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	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
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	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.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	71					0	0	0.150653	0	0
CCT6P1	0	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	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.chr7:65226569delT	ENST00000442266.1	+	0	1167																											gcccggccCCttttttttttt	0.413													5	5	---	---	---	---					
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	ENST00000472509.1	-	1	277	c.100delG	c.(100-102)ttfs	p.V34fs	TAF6_ENST00000437822.2_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000497233.1_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000344095.4_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	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	cytoplasm|MLL1 complex|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	ENST00000379010.2	-	1	1287_1288	c.1288_1289delGT	c.(1288-1290)afs	p.V430fs		NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1	430	GOR1-125 epitope.					cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CTGGTCGCGTACACAGCGGCCC	0.658													4	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	ENST00000334344.6	+	15	4217_4226	c.4045_4054delATCAAAAGTG	c.(4045-4056)atfs	p.IKSD1349fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.IKSD959fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IKSD1200fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	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	ENST00000317338.12	-	4	1343_1344	c.915_916insG	c.(913-918)ggctgafs	p.*306fs	SEZ6_ENST00000442608.3_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000360295.9_Frame_Shift_Ins_p.*306fs|SEZ6_ENST00000335960.6_Frame_Shift_Ins_p.*306fs|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	306						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	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	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:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438													3	4	---	---	---	---					
