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
GPLD1	2822	broad.mit.edu	37	6	24463024	24463024	+	Splice_Site	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:24463024C>T	ENST00000230036.1	-	11	932		c.e11-1			NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1							extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTTGCAGTCACTGAGGAAACA	0.443000													28	38					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508563	106508563	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:106508563C>T	ENST00000359195.3	+	2	867	c.557C>T	c.(556-558)gCg>gTg	p.A186V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A186V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A186V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	186					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCGCGCATGGCGGAGGTGGCC	0.637000													23	35					0	0	1	0	0
NHP2	55651	broad.mit.edu	37	5	177577924	177577924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:177577924G>A	ENST00000274606.3	-	3	450	c.301C>T	c.(301-303)Cga>Tga	p.R101*	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	101					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GGCAAATTTCGGTCCTCACAC	0.512000													6	215					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530137	80530137	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:80530137A>G	ENST00000295057.3	-	2	1464	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Y270H|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	270						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCTCCATGTACTCGATCTCG	0.597000										HNSCC(69;0.2)			13	24					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15358960	15358960	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:15358960G>A	ENST00000281513.5	-	48	6394	c.6369C>T	c.(6367-6369)gaC>gaT	p.D2123D	NBAS_ENST00000441750.1_Silent_p.D2003D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2123										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGAGCTTGCTGTCCTCCTCAG	0.527000													34	47					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262657	69262657	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:69262657G>C	ENST00000408913.2	-	1	533	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGTGCCCAGGGGTGGCGGG	0.751000													9	15					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72997682	72997682	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr18:72997682C>T	ENST00000322038.5	+	2	769	c.185C>T	c.(184-186)tCg>tTg	p.S62L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S107L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	107	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACAGCGTCTCGTACCCCCAG	0.552000													22	30					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829693	43829693	+	Silent	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:43829693C>T	ENST00000319294.6	+	3	361	c.330C>T	c.(328-330)caC>caT	p.H110H	UBASH3A_ENST00000291535.6_Silent_p.H110H|UBASH3A_ENST00000398367.1_Silent_p.H110H|UBASH3A_ENST00000450356.1_Silent_p.H110H	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	110						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TCTTCCCACACGTGACACTCT	0.532000													35	51					0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78558597	78558597	+	Silent	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:78558597C>T	ENST00000446172.2	+	1	75	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	DNAJA4_ENST00000394852.3_Intron|DNAJA4_ENST00000394855.3_Intron|DNAJA4_ENST00000343789.3_Intron	NM_001130183.1	NP_001123655.1	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	0	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGGGAAAGCCTGACCCTGGA	0.423000													18	16					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48462709	48462709	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48462709G>A	ENST00000218056.5	+	8	1709	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K		NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	402						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTTCCCCATCGAGCAGAGCTC	0.612000													10	3					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158057581	158057581	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:158057581C>T	ENST00000368172.1	+	2	104	c.92C>T	c.(91-93)aCg>aTg	p.T31M	KIRREL_ENST00000392272.2_Missense_Mutation_p.T130M|KIRREL_ENST00000416935.2_Missense_Mutation_p.T133M|KIRREL_ENST00000359209.6_Missense_Mutation_p.T233M|KIRREL_ENST00000360089.4_Missense_Mutation_p.T69M|KIRREL_ENST00000368173.3_Missense_Mutation_p.T233M			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	233	Ig-like C2-type 1.					integral to membrane		p.T233R(2)|p.T69R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GAGCCACAGACGGTGCAGGAG	0.577000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	5					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44642001	44642001	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44642001C>T	ENST00000372330.3	+	9	1457	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	480					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCCTCAGAGCgccccacagc	0.706000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	30					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	508	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408000													18	41					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289815	67289815	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr16:67289815C>T	ENST00000299798.11	+	5	958	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	298					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GAAATGGCCTCGCTCTCCGCC	0.627000													26	35					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531251	50531251	+	Missense_Mutation	SNP	T	T	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr10:50531251T>A	ENST00000374144.3	+	3	949	c.661T>A	c.(661-663)Tcc>Acc	p.S221T	C10orf71_ENST00000323868.4_Missense_Mutation_p.S221T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	221										endometrium(1)	1						AGAACAGGAGTCCTCCAAGAA	0.557000													14	20					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9997023	9997023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:9997023C>A	ENST00000354855.3	+	3	255	c.191C>A	c.(190-192)tCa>tAa	p.S64*	KLRF1_ENST00000324214.4_Missense_Mutation_p.F149L|KLRF1_ENST00000279544.3_Missense_Mutation_p.F199L|KLRF1_ENST00000537723.1_Nonsense_Mutation_p.S114*			Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	0					cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CTAGATTCTTCATAAAGGGAC	0.343000													9	33					2.62144e-13	2.78528e-13	1	1	0
AHRR	57491	broad.mit.edu	37	5	422959	422959	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr5:422959C>T	ENST00000316418.5	+	6	613	c.569C>T	c.(568-570)cCg>cTg	p.P190L	AHRR_ENST00000505113.1_Missense_Mutation_p.P190L|AHRR_ENST00000506456.1_Missense_Mutation_p.P46L|AHRR_ENST00000512529.1_Missense_Mutation_p.P36L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGGCAGCCCCCGCCCTTGGAG	0.592000													11	27					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217409	26217409	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26217409C>G	ENST00000303910.2	+	1	245	c.207C>G	c.(205-207)aaC>aaG	p.N69K		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	69					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAGCTGGCAACGCGGCTCGCG	0.597000													20	43					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343652	248343652	+	Missense_Mutation	SNP	G	G	A	rs142698993		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:248343652G>A	ENST00000359682.2	+	1	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTTATGACCGCTATATTGCT	0.403000													103	150					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075658	9075658	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:9075658C>T	ENST00000397910.4	-	3	11991	c.11788G>A	c.(11788-11790)Gag>Aag	p.E3930K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3931	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAATTCTCTCATATGGGCTG	0.493000													13	14					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368000													4	68					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511762	130511762	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr9:130511762G>A	ENST00000314830.8	-	5	980	c.867C>T	c.(865-867)agC>agT	p.S289S	SH2D3C_ENST00000420366.1_Silent_p.S131S|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Silent_p.S129S|SH2D3C_ENST00000373276.3_Silent_p.S221S|SH2D3C_ENST00000373277.4_Silent_p.S132S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	289	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTGGTCAAAGCTCTCCTGCT	0.597000													17	17					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100492187	100492187	+	Silent	SNP	T	T	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr12:100492187T>C	ENST00000279907.7	-	5	683	c.471A>G	c.(469-471)gcA>gcG	p.A157A	UHRF1BP1L_ENST00000356828.3_Silent_p.A157A	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	157										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTTCCCAGTGTGCATTTACAC	0.348000													30	51					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													11	176					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44639815	44639815	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:44639815C>T	ENST00000372330.3	+	5	702	c.683C>T	c.(682-684)gCg>gTg	p.A228V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	228	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCAGATGGCGCGGCCTGCCAC	0.637000													104	120					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615350	36615350	+	Silent	SNP	G	G	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:36615350G>T	ENST00000311485.3	-	2	530	c.369C>A	c.(367-369)cgC>cgA	p.R123R		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	123					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCTCTGTGCAGCGAAAAGTAA	0.398000									Familial Hemophagocytic Lymphohistiocytosis				36	83					9.8876e-21	1.09623e-20	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46569885	46569885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr11:46569885G>A	ENST00000458649.2	-	2	464	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R16*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R16*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	16					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCCGTTCTCGCCCCCAGAGT	0.552000													87	51					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888493	23888493	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr14:23888493G>A	ENST00000355349.3	-	29	4027	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1289					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCAGCTGCCGGGACAGCTCA	0.597000													17	26					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216198161	216198161	+	Silent	SNP	G	G	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:216198161G>C	ENST00000435675.1	+	8	1291	c.900G>C	c.(898-900)gcG>gcC	p.A300A	ATIC_ENST00000236959.9_Silent_p.A301A|ATIC_ENST00000540518.1_Silent_p.A242A			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	301					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CCATCTCAGCGGCATATGCAA	0.403000			T	ALK	ALCL								19	41					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507991	14507991	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:14507991C>T	ENST00000242786.5	+	6	661	c.581C>T	c.(580-582)cCg>cTg	p.P194L	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	194	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCTGGCAACCGATTCCGGGG	0.582000													43	73					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920345	134920345	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:134920345G>T	ENST00000398015.3	+	12	2530	c.2160G>T	c.(2158-2160)caG>caT	p.Q720H	EPHB1_ENST00000493838.1_Missense_Mutation_p.Q281H	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	720	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGTGATCCAGCTTGTGGGTA	0.507000													9	194					0.00621372	0.00621372	1	1	0
AC068831.10	0	broad.mit.edu	37	15	91575735	91575735	+	RNA	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:91575735C>T	ENST00000557804.1	+	0	443																											CCAGAGGGGTCCTCGGACAAC	0.632000													4	6					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85466464	85466464	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:85466464G>A	ENST00000369663.5	-	4	1060	c.723C>T	c.(721-723)agC>agT	p.S241S	TBX18_ENST00000606784.1_Silent_p.S83S|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	241					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCTTGTCGAAGCTGATAACTT	0.527000													21	12					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44949155	44949155	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:44949155G>A	ENST00000377967.4	+	25	3757	c.3716G>A	c.(3715-3717)tGg>tAg	p.W1239*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1160*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1246*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1194*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1239	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AACATTGCTTGGAATGTTGGT	0.363000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								14	5					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24864978	24864978	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr13:24864978G>A	ENST00000424834.2	+	11	3509	c.3036G>A	c.(3034-3036)ccG>ccA	p.P1012P	SPATA13_ENST00000399949.2_Silent_p.P309P|SPATA13_ENST00000409126.1_Silent_p.P247P|SPATA13_ENST00000382108.3_Silent_p.P1012P|SPATA13_ENST00000343003.6_Silent_p.P331P|SPATA13_ENST00000382095.4_Silent_p.P387P			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	387					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCAAATACCCGCTGCAGCTGG	0.572000													19	24					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33945019	33945019	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:33945019G>A	ENST00000389232.4	+	32	4313	c.4243G>A	c.(4243-4245)Gtg>Atg	p.V1415M	RYR3_ENST00000415757.3_Missense_Mutation_p.V1415M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1415	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGCTGTCTCGTGGATCTGGC	0.562000													19	46					0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220104982	220104982	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:220104982C>A	ENST00000295759.7	-	6	790	c.477G>T	c.(475-477)tgG>tgT	p.W159C	GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.W159C|GLB1L_ENST00000409640.1_Intron			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	159					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGACCTTGAACCAGGAGTCCA	0.488000													4	136					0.000602214	0.000614259	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30724481	30724481	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr4:30724481C>A	ENST00000361762.2	+	1	2445	c.1437C>A	c.(1435-1437)gaC>gaA	p.D479E	PCDH7_ENST00000543491.1_Missense_Mutation_p.D479E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	479	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCGAGGGCGACCAGAACAAGA	0.627000													17	13					4.14922e-12	4.31857e-12	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11464354	11464354	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:11464354A>C	ENST00000423059.3	-	16	3603	c.3352T>G	c.(3352-3354)Tgt>Ggt	p.C1118G	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1118	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTCTCCACAGTTCTCCCGC	0.483000										HNSCC(18;0.044)			87	116					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141239	20141239	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:20141239C>A	ENST00000375121.2	-	1	532	c.356G>T	c.(355-357)tGt>tTt	p.C119F	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	119						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGAGGACAGAGCGATAC	0.652000													19	49					1.00905e-13	1.09492e-13	1	1	0
OR2B11	127623	broad.mit.edu	37	1	247614682	247614682	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:247614682G>A	ENST00000318749.6	-	1	626	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAGCCAGTATGGTGTCATTCA	0.567000													5	16					0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25300846	25300846	+	Silent	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr20:25300846G>A	ENST00000339157.5	-	4	803	c.531C>T	c.(529-531)aaC>aaT	p.N177N	ABHD12_ENST00000376542.3_Silent_p.N177N	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	177						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGGTACCTGCGTTCCCATGCA	0.572000													4	31					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67768050	67768050	+	Missense_Mutation	SNP	G	G	A	rs140009311	by1000genomes	TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr15:67768050G>A	ENST00000335894.4	+	18	2759	c.2693G>A	c.(2692-2694)cGc>cAc	p.R898H	IQCH_ENST00000360277.4_Missense_Mutation_p.R559H|IQCH_ENST00000358767.3_Missense_Mutation_p.R634H|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.R555H	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	898										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCAACCAGTCGCTATGCAGTG	0.403000													29	41					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39038896	39038896	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:39038896G>A	ENST00000355481.4	+	88	12234	c.12103G>A	c.(12103-12105)Gcc>Acc	p.A4035T	RYR1_ENST00000360985.3_Missense_Mutation_p.A4035T|RYR1_ENST00000359596.3_Missense_Mutation_p.A4040T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4040					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A4040T(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGCATGATCGCCCGGCAGAT	0.577000													11	31					0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127816297	127816297	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr3:127816297C>T	ENST00000464873.1	-	8	1432	c.682G>A	c.(682-684)Gac>Aac	p.D228N	RUVBL1_ENST00000322623.5_Missense_Mutation_p.D288N|RUVBL1_ENST00000417360.1_Missense_Mutation_p.D288N			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	288					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGCCCTGGTCGATGTACTTG	0.557000													22	36					0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973975	45973975	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:45973975T>G	ENST00000401061.4	+	3	648	c.368T>G	c.(367-369)gTa>gGa	p.V123G		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	123							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCAGCCCATGTAGCTGGGGCT	0.552000													17	29					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224234	11224234	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr19:11224234G>A	ENST00000558518.1	+	10	1569	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D	LDLR_ENST00000455727.2_Missense_Mutation_p.G293D|LDLR_ENST00000558013.1_Missense_Mutation_p.G461D|LDLR_ENST00000557933.1_Missense_Mutation_p.G461D|LDLR_ENST00000535915.1_Missense_Mutation_p.G420D|LDLR_ENST00000545707.1_Missense_Mutation_p.G334D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	461					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AGAGCCCACGGCGTCTCTTCC	0.637000													16	25					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276590	186276592	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:186276590_186276592delCCC	ENST00000445192.2	+	7	1784_1786	c.1739_1741delCCC	c.(1738-1743)acc>a	p.TP580del	PRG4_ENST00000367485.4_In_Frame_Del_p.TP487del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP539del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP537del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	580	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCCCCAACTACCCCCAAGGAGCC	0.640													14	58	---	---	---	---					
PPP2R5A	5525	broad.mit.edu	37	1	212459454	212459455	+	Translation_Start_Site	INS	-	-	GTC			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr1:212459454_212459455insGTC	ENST00000261461.2	+	0	576_577					NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha						negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	p.M1K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GCCGCGGAGATGTCGTCGTCGT	0.733													7	1	---	---	---	---					
SSB	6741	broad.mit.edu	37	2	170662037	170662038	+	In_Frame_Ins	INS	-	-	AAACTG			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr2:170662037_170662038insAAACTG	ENST00000409333.1	+	3	367_368	c.120_121insAAACTG	c.(118-123)ataact>atAAACTGaact	p.40_41IT>IN*T	SSB_ENST00000260956.4_In_Frame_Ins_p.40_41IT>IN*T			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	40	HTH La-type RNA-binding.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGGAACAGATAAAACTGGATGA	0.332													11	22	---	---	---	---					
HIST1H2BF	8343	broad.mit.edu	37	6	26199806	26199806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr6:26199806delC	ENST00000359985.1	+	1	59	c.20delC	c.(19-21)tcfs	p.S7fs		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	7					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCTGCTAAGTCCGCTCCTGCT	0.493													29	60	---	---	---	---					
DPY19L2P1	0	broad.mit.edu	37	7	35145789	35145793	+	RNA	DEL	CTAAA	CTAAA	-	rs76141590		TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr7:35145789_35145793delCTAAA	ENST00000436258.1	-	0	1553_1557																											GTGACTATCTCTAAACTACTTAGGA	0.190													3	6	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													12	38	---	---	---	---					
WAS	7454	broad.mit.edu	37	X	48543988	48543988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAK1-01A-11D-A41K-08	TCGA-XK-AAK1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79088904-66c8-4761-858f-bab16dbf915d	c1f91d47-7072-4b9c-8a23-b7a46ad211a1	g.chrX:48543988delC	ENST00000376701.4	+	3	401	c.326delC	c.(325-327)acfs	p.T109fs	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	109	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				GTCTACTCCACCCCCACCCCC	0.622			"""Mis, N, F, S"""			lymphoma							2	4	---	---	---	---