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
CLTCL1	8218	broad.mit.edu	37	22	19196494	19196494	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19196494G>C	uc021wle.1	-	20	3455	c.3380C>G	c.(3379-3381)tCc>tGc	p.S1127C	CLTCL1_uc021wld.1_Missense_Mutation_p.S1127C|CLTCL1_uc021wlc.1_Missense_Mutation_p.S1127C|CLTCL1_uc021wlf.1_Missense_Mutation_p.S1127C|CLTCL1_uc011agw.1_Missense_Mutation_p.S1127C|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpd.1_Missense_Mutation_p.S87C|CLTCL1_uc002zpe.2_Missense_Mutation_p.S87C	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1127	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGATATAGGAGTTGATGGC	0.547000			T	?	ALCL								16	7					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	C	G	rs148702086	by1000genomes	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000													5	32					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56391251	56391251	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:56391251C>T	uc003pcy.4	-	49	10276	c.10168G>A	c.(10168-10170)Gta>Ata	p.V3390I		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5802					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCAGCTACCATTTTCTCA	0.498000													29	63					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172709	91172709	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91172709G>A	uc002bpp.3	+	10	1317	c.1211G>A	c.(1210-1212)gGt>gAt	p.G404D	CRTC3_uc002bpo.3_Missense_Mutation_p.G404D	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	404					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCACATCAAGGTTTCAGCAGA	0.572000			T	MAML2	salivary gland mucoepidermoid								46	95					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	356					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:41729399C>T	uc003thq.3	-	1	1365	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_uc003thr.3_Missense_Mutation_p.R377H	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	377				RMR -> AC (in Ref. 7; CAA51163).	G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R377H(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547000										TSP Lung(11;0.080)			61	80					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33552148	33552148	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:33552148T>A	uc021wvc.1	-	36	4454	c.4243A>T	c.(4243-4245)Aat>Tat	p.N1415Y	CLASP2_uc003cfs.3_Missense_Mutation_p.N614Y|CLASP2_uc021wva.1_Missense_Mutation_p.N489Y|CLASP2_uc021wvb.1_Missense_Mutation_p.N1194Y	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1416										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGCCAGATTAATTGGGTAG	0.438000													7	14					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000													4	43					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39869208	39869208	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:39869208C>T	uc002olb.3	+	10	2544	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SAMD4B_uc002ola.3_Silent_p.I503I	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	503							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGCTCATCGAAAAGTGCC	0.572000													12	67					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312852	86312852	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:86312852G>C	uc002bly.3	-	1	393	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	KLHL25_uc021stw.1_Missense_Mutation_p.L64V	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	64	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGCGGCCAGCACGGCACGG	0.627000													14	33					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:149639635A>T	uc011mxu.2	+	2	2025	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc004fee.2_Missense_Mutation_p.Q597L|MAMLD1_uc011mxv.2_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.2_Missense_Mutation_p.Q524L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	597					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													5	164					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91073323	91073323	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91073323C>T	uc002bpp.3	+	0	126	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CRTC3_uc002bpn.3_Missense_Mutation_p.S7L|CRTC3_uc002bpo.3_Missense_Mutation_p.S7L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	7	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TCGCCGGGCTCGGGCAGCGCC	0.721000			T	MAML2	salivary gland mucoepidermoid								5	3					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111287884	111287884	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:111287884G>A	uc001vrc.3	+	7	812	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CARKD_uc010tjj.2_Missense_Mutation_p.V223M|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Missense_Mutation_p.V131M|CARKD_uc010tjl.2_Missense_Mutation_p.V110M|CARKD_uc001vrb.3_Missense_Mutation_p.V241M|CARKD_uc021rmn.1_Missense_Mutation_p.V20M	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	241	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCTGGGCAACGTGACGGTGGT	0.592000													28	213					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72988397	72988397	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:72988397G>T	uc003tyh.3	-	2	451	c.317C>A	c.(316-318)gCt>gAt	p.A106D	TBL2_uc011kex.2_Missense_Mutation_p.A70D|TBL2_uc010lbg.3_Missense_Mutation_p.A11D|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_Intron	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGGTAGCCAGGTATTT	0.577000													13	50					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47889849	47889849	+	Silent	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:47889849A>G	uc003cru.3	+	14	2892	c.2466A>G	c.(2464-2466)caA>caG	p.Q822Q	DHX30_uc003crt.3_Silent_p.Q783Q|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	822	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGTGCTGCAAGCGAAAATCC	0.632000													24	43					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225847	3225847	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:3225847C>T	uc021xkv.1	+	55	7899	c.7754C>T	c.(7753-7755)cCg>cTg	p.P2585L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2585					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCTGTCTCCGGCTACTACA	0.512000													42	135					0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169391086	169391086	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:169391086A>T	uc001gga.1	-	2	751	c.583T>A	c.(583-585)Ttt>Att	p.F195I	C1orf114_uc001gfz.1_Missense_Mutation_p.F195I|C1orf114_uc009wvq.1_Missense_Mutation_p.F195I|C1orf114_uc001ggb.3_Missense_Mutation_p.F195I|C1orf114_uc001ggc.1_Missense_Mutation_p.F195I	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	195										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCTTGTCCAAAATCATTGGAA	0.348000													38	58					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583958	35583958	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:35583958A>G	uc003xjr.2	+	9	1920	c.1592A>G	c.(1591-1593)cAa>cGa	p.Q531R	UNC5D_uc003xjs.2_Missense_Mutation_p.Q526R|UNC5D_uc003xju.2_Missense_Mutation_p.Q107R|UNC5D_uc003xjt.1_Missense_Mutation_p.Q289R	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	531					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTACATCCAAAATCTGTCA	0.468000													26	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:7577141C>A	uc002gim.2	-	7	991	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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)			13	4					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057634	53057634	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:53057634C>T	uc010epq.1	+	4	1642	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAATGAGTGTCGCAAGACCTT	0.433000													38	128					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37291395	37291395	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:37291395G>C	uc001caz.2	-	10	1698	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	GRIK3_uc001cba.1_Missense_Mutation_p.I521M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	521					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAACATGGGTGATGGTCAGGG	0.542000													8	131					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907499	43907499	+	Silent	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:43907499C>A	uc010dap.3	+	6	826	c.561C>A	c.(559-561)ctC>ctA	p.L187L	CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_Silent_p.L57L|CRHR1_uc002ijm.3_Silent_p.L158L|CRHR1_uc002ijn.3_Silent_p.L118L|CRHR1_uc010dar.3_Silent_p.L158L|CRHR1_uc010dao.3_Silent_p.L57L|CRHR1_uc010daq.3_Intron|CRHR1_uc021tyu.1_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	187					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGGAACCTCATCTCCGCCT	0.622000													86	97					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188629	57188629	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:57188629C>G	uc010kzo.3	-	4	764	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K164I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACCAAAGACTTTGACATAT	0.308000													9	19					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24417411	24417411	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:24417411G>A	uc001bin.4	-	11	1471	c.1308C>T	c.(1306-1308)ggC>ggT	p.G436G	MYOM3_uc001bim.4_Silent_p.G93G|MYOM3_uc001bio.3_Silent_p.G436G|MYOM3_uc001bip.1_Silent_p.G93G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	436	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCGACGAGGCCTTGGATTG	0.637000													58	96					0	0	1	0	0
GAGE1	2543	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:49355893C>G	uc004doi.4	+	2	272	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	60					cellular defense response			p.Q59E(8)				Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													6	688					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45544547	45544547	+	Missense_Mutation	SNP	G	G	A	rs144635092	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:45544547G>A	uc002zeb.3	+	14	1994	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	635						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TACCACGTCCGTGAGCAGATT	0.602000													6	60					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413586	68413586	+	RNA	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:68413586G>A	uc004aex.3	+	0		c.141G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TCTAGGAAAGGTTGTGCCTTT	0.597000													4	32					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715317	101715317	+	Silent	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:101715317C>G	uc001kqj.2	-	3	2006	c.1914G>C	c.(1912-1914)gtG>gtC	p.V638V	DNMBP-AS1_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	638	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGTCGCACCACCAAGGGTG	0.597000													8	59					0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67564228C>T	uc001omt.4	-	2	259	c.236G>A	c.(235-237)aGc>aAc	p.S79N						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		GAGGAGCCCGCTGGTGCTCCC	0.627000													5	88					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215506	97215506	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:97215506C>G	uc002swe.3	+	3	376	c.276C>G	c.(274-276)atC>atG	p.I92M	ARID5A_uc010yuq.2_5'UTR|ARID5A_uc002swf.3_5'UTR|ARID5A_uc002swg.3_5'UTR	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	92	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGTGGAAGATCTACAAAGCAG	0.602000													33	56					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926336	67926336	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67926336C>G	uc001onm.1	-	10	1733	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H	SUV420H1_uc009yse.1_Missense_Mutation_p.D79H|SUV420H1_uc001onn.1_Missense_Mutation_p.D321H|SUV420H1_uc009ysf.2_Missense_Mutation_p.D253H	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCTCCTTATCTTTTTTAATG	0.478000													45	44					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101204	34101204	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:34101204C>T	uc003oir.4	-	0	433	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	GRM4_uc011dsn.2_Missense_Mutation_p.G24S|GRM4_uc010jvh.3_Missense_Mutation_p.G24S|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Intron	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	24					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ATCCAGGGGCCGTAAAGGCTG	0.612000													27	23					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5919371	5919371	+	Splice_Site	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:5919371A>C	uc002wmh.1	-	11	1425	c.1303_splice	c.e11-1	p.V435_splice	TRMT6_uc010zra.1_Splice_Site_p.V265_splice	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	435					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATCTGGCAAAACCTAATCAAG	0.418000													14	76					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128785806	128785806	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:128785806G>A	uc010qun.2	+	4	313	c.249G>A	c.(247-249)ccG>ccA	p.P83P	DOCK1_uc001ljt.3_Silent_p.P83P	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	83					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGTCATCCCGGGTGACCTCC	0.507000													7	10					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762746	24762746	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:24762746G>A	uc001iru.4	+	5	1839	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	KIAA1217_uc001irs.3_Missense_Mutation_p.S399N|KIAA1217_uc001irt.4_Missense_Mutation_p.S479N|KIAA1217_uc010qcy.2_Missense_Mutation_p.S479N|KIAA1217_uc010qcz.2_Missense_Mutation_p.S479N|KIAA1217_uc001irv.1_Missense_Mutation_p.S329N|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.S197N|KIAA1217_uc001irz.3_Missense_Mutation_p.S197N|KIAA1217_uc001irx.3_Missense_Mutation_p.S197N|KIAA1217_uc001iry.3_Missense_Mutation_p.S197N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	479					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGAGTCAGTGACCTGAGG	0.542000													25	95					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305578	136305578	+	Missense_Mutation	SNP	G	G	A	rs34569244		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:136305578G>A	uc004cdv.4	+	15	2344	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ADAMTS13_uc004cdp.4_Silent_p.P11P|ADAMTS13_uc004cdt.1_Missense_Mutation_p.E634K|ADAMTS13_uc004cdu.1_Missense_Mutation_p.E603K|ADAMTS13_uc004cdw.4_Missense_Mutation_p.E634K|ADAMTS13_uc004cdx.4_Missense_Mutation_p.E603K|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.E304K|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Missense_Mutation_p.E159K	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	634	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCCTCACCGAGGACCGGCT	0.647000													19	24					0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765801	18765801	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:18765801C>T	uc010exr.3	-	3	820	c.708G>A	c.(706-708)ccG>ccA	p.P236P	NT5C1B-RDH14_uc002rcy.3_Silent_p.P294P|NT5C1B-RDH14_uc010yju.2_Silent_p.P234P|NT5C1B-RDH14_uc002rcz.3_Silent_p.P294P|NT5C1B-RDH14_uc010yjw.2_Silent_p.P277P|NT5C1B-RDH14_uc010yjv.2_Silent_p.P311P|NT5C1B-RDH14_uc010exs.3_Silent_p.P296P|NT5C1B-RDH14_uc002rda.3_Silent_p.P234P|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.P86P	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	294					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GCGAGCAGCTCGGGTTCTTCT	0.687000													13	14					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	6915	6915	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrM:6915G>A	uc011mfh.2	+	0	1015	c.14G>A	c.(13-15)aGt>aAt	p.S5N	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		GATCTGCTGCAGTGCTCTGAG	0.478000													99	3					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:50659329C>T	uc011mnw.2	+	1	950	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498000													77	65					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961226	19961226	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19961226G>A	uc002zqz.3	-	12	2449	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARVCF_uc002zqy.3_Missense_Mutation_p.R243C	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	727					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGACGGCGCGCACCACCTTG	0.667000													31	134					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr5:38451444C>T	uc003jlc.2	+	19	2941	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	EGFLAM_uc003jlb.2_Silent_p.F857F|EGFLAM_uc003jle.2_Silent_p.F623F|EGFLAM_uc003jlf.2_Silent_p.F223F|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAAATGTGTTCATGAGGTTTA	0.468000													46	111					0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300188	23300188	+	Splice_Site	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:23300188T>C	uc001yvq.2	-	4		c.1319_splice	c.e4-1		HERC2P2_uc001yvo.4_Intron|HERC2P2_uc001yvp.4_Intron					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		AAGAGGGTCCTGGGAGGTTTG	0.552000													4	11					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17912350	17912350	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:17912350T>C	uc002rco.3	-	6	834	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SMC6_uc010exo.3_Missense_Mutation_p.I180V|SMC6_uc002rcn.3_Missense_Mutation_p.I180V|SMC6_uc002rcp.1_Missense_Mutation_p.I206V|SMC6_uc002rcq.2_Missense_Mutation_p.I206V|SMC6_uc002rcr.1_Missense_Mutation_p.I180V	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	180					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTACCTGGATGTTAAAATGA	0.343000													3	39					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179737016	179737016	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:179737016A>C	uc002une.2	-	12	2041	c.1923T>G	c.(1921-1923)gaT>gaG	p.D641E	CCDC141_uc002unf.1_Missense_Mutation_p.D120E	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	66							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTTTCACATCTAATATCT	0.368000													14	31					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			266	32					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27009799	27009799	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:27009799G>T	uc010crt.3	+	14	1844	c.1652G>T	c.(1651-1653)cGg>cTg	p.R551L	SUPT6H_uc002hby.3_Missense_Mutation_p.R551L	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	551					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGAACCTGCGGGATAGCTAC	0.557000													25	84					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340188	116340188	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:116340188G>T	uc003vij.3	+	1	1237	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	MET_uc022akk.1_Missense_Mutation_p.K350N|MET_uc010lkh.3_Missense_Mutation_p.K350N|MET_uc011knc.1_Missense_Mutation_p.K350N|MET_uc011knd.2_Missense_Mutation_p.K350N|MET_uc011knf.2_Missense_Mutation_p.K350N|MET_uc011kne.2_Missense_Mutation_p.K350N|MET_uc011kng.1_Missense_Mutation_p.K350N|MET_uc011knh.1_Missense_Mutation_p.K350N|MET_uc011kni.2_Missense_Mutation_p.K350N|MET_uc003vii.1_Missense_Mutation_p.K369N|MET_uc010lkg.3_Missense_Mutation_p.K350N|MET_uc011kmz.1_Missense_Mutation_p.K350N|MET_uc011kna.1_Missense_Mutation_p.K350N|MET_uc011knb.1_Missense_Mutation_p.K350N	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	350	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACAAAGCAAGCCAGATTCTG	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				25	29					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631744	9631744	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:9631744C>T	uc010cod.3	+	14	2809	c.2809C>T	c.(2809-2811)Cct>Tct	p.P937S	USP43_uc002gma.4_Missense_Mutation_p.P626S|USP43_uc010vva.2_Missense_Mutation_p.P932S|USP43_uc010coe.3_Missense_Mutation_p.P734S|USP43_uc002gmc.4_Missense_Mutation_p.P449S	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	937					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACTGTGATGCCTTCAGTGGA	0.537000													6	8					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:135524778C>T	uc003yup.3	-	13	3487	c.3301G>A	c.(3301-3303)Gtt>Att	p.V1101I	ZFAT_uc011ljj.2_Missense_Mutation_p.V220I|ZFAT_uc003yun.3_Missense_Mutation_p.V1089I|ZFAT_uc003yuo.3_Missense_Mutation_p.V1089I|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Missense_Mutation_p.V1039I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.V1089I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCCTTGAACGTCTTCTTCG	0.532000													55	322					0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:40148381C>T	uc001cdr.3	-	3	523	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	HPCAL4_uc010oix.2_Missense_Mutation_p.V63M	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	135					central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562000													32	57					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106580	27106580	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:27106580T>G	uc001bmv.1	+	19	6564	c.6191T>G	c.(6190-6192)cTc>cGc	p.L2064R	ARID1A_uc001bmu.1_Missense_Mutation_p.L1847R|ARID1A_uc001bmx.1_Missense_Mutation_p.L910R|ARID1A_uc009vsm.1_Missense_Mutation_p.L392R|ARID1A_uc009vsn.1_Missense_Mutation_p.L306R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2064					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGTTACACTCGCCAACATC	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								86	104					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501409	71501409	+	Silent	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:71501409T>A	uc003pfr.3	+	4	680	c.432T>A	c.(430-432)gcT>gcA	p.A144A	SMAP1_uc011dxy.1_Intron|SMAP1_uc003pfs.3_Intron|SMAP1_uc010kao.3_Intron|SMAP1_uc010kap.3_Silent_p.A134A	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	144					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGATGCTCCTCTTCAGC	0.403000													30	35					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	83					0	0	1	0	0
SEC11A	23478	broad.mit.edu	37	15	85259282	85259282	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:85259282C>T	uc002blb.1	-	0	393	c.25G>A	c.(25-27)Gat>Aat	p.D9N	SEC11A_uc002blc.1_5'UTR	NM_014300	NP_055115	P67812	SC11A_HUMAN	Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.	9					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CGCCGCACATCGTCCAAAAAG	0.642000													8	15					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396405	22396405	+	Silent	SNP	G	G	A	rs117003321		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:22396405G>A	uc001mqk.3	+	8	1559	c.1146G>A	c.(1144-1146)acG>acA	p.T382T		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAACTACGACAGTGAGAA	0.368000													40	109					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25167977	25167977	+	Missense_Mutation	SNP	A	A	T	rs139621203	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:25167977A>T	uc003xeg.3	+	12	1384	c.1247A>T	c.(1246-1248)aAt>aTt	p.N416I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.N130I|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	416						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTCAGAAGAATTTTTCACAC	0.423000													15	17					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													4	5					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228595913	228595913	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:228595913C>T	uc001hsu.3	-	6	1808	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Missense_Mutation_p.V475M	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	475	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TATCCTTTCACCCACATGGTC	0.617000													23	124					0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390195	52390195	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:52390195T>C	uc001jjf.1	+	1		c.888T>C								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		AATCGAACTGTAGTACACTTG	0.398000													12	7					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:28800272_28800273insC	uc001bpy.3	+	5	1295_1296	c.1060_1061insC	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Ins_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Ins_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													7	301	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32671482	32671482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:32671482delG	uc009vua.2	+	0	247	c.200delG	c.(199-201)tggfs	p.W67fs	IQCC_uc001bum.2_Intron|IQCC_uc010ogz.1_Intron	NM_001160042	NP_001153514	Q4KMZ1	IQCC_HUMAN	Homo sapiens IQ motif containing C (IQCC), transcript variant 1, mRNA.	328										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGAAAGCTGGGACCCACGG	0.657													2	4	---	---	---	---					
LOC388692	388692	broad.mit.edu	37	1	149287128	149287129	+	RNA	DEL	CT	CT	-	rs67979441		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:149287128_149287129delCT	uc010pbf.1	+	0		c.7653_7654delCT			LOC388692_uc001esg.4_5'Flank					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		GGGGACTGGCCTCTCTGCACGG	0.594													3	4	---	---	---	---					
URB2	9816	broad.mit.edu	37	1	229763491	229763492	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:229763491_229763492insG	uc001hts.1	+	1	247_248	c.111_112insG	c.(109-114)cttccafs	p.L37fs	URB2_uc009xfd.1_Frame_Shift_Ins_p.L37fs|TAF5L_uc001htq.3_5'Flank|TAF5L_uc001htr.3_5'Flank	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	37						nucleolus		p.P38T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGTGCTTTCTTCCAAATAAAGA	0.307													14	68	---	---	---	---					
PGR	5241	broad.mit.edu	37	11	100999426	100999427	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:100999426_100999427insC	uc001pgh.2	-	0	1118_1119	c.375_376insG	c.(373-378)gggcagfs	p.G125fs	PGR_uc001pgi.2_Frame_Shift_Ins_p.G125fs|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	125	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTGGCTCTGCCCGGGACCTG	0.653													7	8	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073870	3073870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr16:3073870delC	uc002csx.1	-	1	206	c.73delG	c.(73-75)gtgfs	p.V25fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.V25fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.V25fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	25						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CCCCAAGTCACCCCCAAGGCG	0.701													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	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													7	30	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45368618	45368632	+	In_Frame_Del	DEL	TTCCTGGACTGTACA	TTCCTGGACTGTACA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:45368618_45368632delTTCCTGGACTGTACA	uc002ozw.1	+	1	569_583	c.179_193delTTCCTGGACTGTACA	c.(178-195)gttcctggactgtacatc>gtc	p.PGLYI61del	PVRL2_uc002ozv.3_In_Frame_Del_p.PGLYI61del	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	61	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTGCCACCTGTTCCTGGACTGTACATCTCCCTGGT	0.656													19	71	---	---	---	---					
EWSR1	2130	broad.mit.edu	37	22	29695296	29695296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:29695296delC	uc003aet.3	+	14	1981	c.1653delC	c.(1651-1653)ttcfs	p.F551fs	EWSR1_uc003aev.3_Frame_Shift_Del_p.F556fs|EWSR1_uc003aex.3_Frame_Shift_Del_p.F550fs|EWSR1_uc003aew.3_Frame_Shift_Del_p.F495fs|EWSR1_uc003aey.3_Frame_Shift_Del_p.F346fs|EWSR1_uc003aez.3_Frame_Shift_Del_p.F212fs	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGGCTTCCTCCCGCCAC	0.522			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								85	132	---	---	---	---					
