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
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													3	9					0	0	0.115264	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:51749089C>G	ENST00000412531.3	+	2	317	c.245C>G	c.(244-246)gCc>gGc	p.A82G	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343000													7	69					0	0	0.069234	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													5	1					0	0	0.021553	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	45					0	0	0.021553	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413000													4	72					0	0	0.150653	0	0
TPX2	22974	broad.mit.edu	37	20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	ENST00000340513.4	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418000													24	54					1.66031e-10	1.95159e-10	0.091800	1	0
RWDD2A	112611	broad.mit.edu	37	6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433000													42	69					0	0	0.111260	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384117	62384117	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:62384117G>A	ENST00000531383.1	-	4	976	c.770C>T	c.(769-771)gCc>gTc	p.A257V	B3GAT3_ENST00000534026.1_Missense_Mutation_p.A257V|B3GAT3_ENST00000265471.5_Missense_Mutation_p.A257V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	257					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.A257V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CAGGGCCACGGCAAATCCAGC	0.612000													3	52					0	0	0.115264	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269000													27	68					0	0	0.125774	0	0
COL16A1	1307	broad.mit.edu	37	1	32150183	32150183	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:32150183G>A	ENST00000373672.3	-	31	2617	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	COL16A1_ENST00000271069.6_Missense_Mutation_p.R700W|COL16A1_ENST00000373668.3_Missense_Mutation_p.R701W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	701	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R701W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGCCGCCCTGTGGTG	0.637000													11	81					0	0	0.080935	0	0
ADA	100	broad.mit.edu	37	20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000537820.1_Missense_Mutation_p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602000									Adenosine Deaminase Deficiency				14	66					4.3838e-07	4.97821e-07	0.105934	1	0
ZNF214	0	broad.mit.edu	37	11	7021497	7021497	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:7021497G>C	ENST00000278314.4	-	3	1732	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF214_ENST00000536068.1_Missense_Mutation_p.P473A	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P473A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACATTCAGGACAAGTATAG	0.438000													12	52					0	0	0.093190	0	0
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212						nucleus	sequence-specific DNA binding transcription factor activity	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632000													39	105					0	0	0.104719	0	0
ANO3	63982	broad.mit.edu	37	11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000531568.1_Missense_Mutation_p.E379D|ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525						chloride channel complex	chloride channel activity	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383000													9	31					9.70103e-10	1.12064e-09	0.069234	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138197133	138197133	+	Splice_Site	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.634_splice	c.e5-1	p.D212_splice	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								20	78					0	0	0.083992	0	0
ZNF366	0	broad.mit.edu	37	5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642000													5	182					0	0	0.021553	0	0
LBP	3929	broad.mit.edu	37	20	36974956	36974956	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:36974956C>T	ENST00000217407.2	+	1	198	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	13					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L13L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTCCATACTGCTGGCATTGCT	0.617000													11	117					0	0	0.080935	0	0
CEP170B	283638	broad.mit.edu	37	14	105349541	105349541	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:105349541G>A	ENST00000453495.1	+	8	978	c.750G>A	c.(748-750)acG>acA	p.T250T	CEP170B_ENST00000418279.1_Silent_p.T179T|CEP170B_ENST00000414716.3_Silent_p.T249T|CEP170B_ENST00000556508.1_Silent_p.T179T					centrosomal protein 170B									p.T249T(2)|p.T180T(1)|p.T179T(1)									AGATGCCCACGAAGGATGCAG	0.667000													6	36					0	0	0.047766	0	0
HEATR2	54919	broad.mit.edu	37	7	796543	796543	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:796543G>C	ENST00000297440.6	+	6	1402	c.1382G>C	c.(1381-1383)cGg>cCg	p.R461P	HEATR2_ENST00000313147.5_Missense_Mutation_p.R461P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	461							protein binding	p.R461P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCGCCATGCGGGGTTGCCCC	0.622000													11	84					0	0	0.093190	0	0
KIF21B	23046	broad.mit.edu	37	1	200960075	200960075	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:200960075G>T	ENST00000332129.2	-	18	2973	c.2657C>A	c.(2656-2658)gCg>gAg	p.A886E	KIF21B_ENST00000360529.5_Missense_Mutation_p.A886E|KIF21B_ENST00000422435.2_Missense_Mutation_p.A886E|KIF21B_ENST00000461742.2_Missense_Mutation_p.A886E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	886					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A886E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAGTGGGCGCAGGATGGTC	0.632000													7	96					0.00307968	0.00332804	0.038147	1	0
QKI	9444	broad.mit.edu	37	6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448000													20	41					0	0	0.062417	0	0
RP1	6101	broad.mit.edu	37	8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597000													4	133					0	0	0.150653	0	0
ZNF799	90576	broad.mit.edu	37	19	12501649	12501649	+	Silent	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	ENST00000419318.1	-	4	2216	c.1467A>T	c.(1465-1467)gtA>gtT	p.V489V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.V521V			Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388000													5	76					0	0	0.184627	0	0
PFN2	5217	broad.mit.edu	37	3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473000													70	190					3.13743e-37	3.75371e-37	0.139131	1	0
CCDC8	83987	broad.mit.edu	37	19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32						plasma membrane		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637000													3	78					0	0	0.115264	0	0
GLP2R	9340	broad.mit.edu	37	17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGGCCTCATTCTTCTCCTG	0.428000													15	140					0	0	0.189662	0	0
CCDC57	284001	broad.mit.edu	37	17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468000													5	92					0	0	0.184627	0	0
TRGC1	0	broad.mit.edu	37	7	38305254	38305254	+	RNA	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:38305254G>A	ENST00000443402.2	-	0	25					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TGGGCTTGGGGGAAACATCTG	0.378000													81	196					0	0	0.139131	0	0
BMP2K	55589	broad.mit.edu	37	4	79786791	79786791	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr4:79786791C>T	ENST00000335016.5	+	10	1314	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	BMP2K_ENST00000502871.1_Missense_Mutation_p.T383I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	383						nucleus	ATP binding|protein serine/threonine kinase activity	p.T383I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTACTGCCACTCCCAGTGTG	0.443000													15	69					0	0	0.146539	0	0
PLBD2	196463	broad.mit.edu	37	12	113822716	113822716	+	Silent	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:113822716C>G	ENST00000280800.3	+	8	1210	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	393					lipid catabolic process	lysosomal lumen	hydrolase activity	p.P393P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGCCCAGCCCCGGGAGCCGGG	0.667000													3	39					0	0	0.115264	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393000													5	231					0	0	0.184627	0	0
DNAH10	196385	broad.mit.edu	37	12	124399457	124399457	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:124399457A>C	ENST00000409039.3	+	61	10304	c.10279A>C	c.(10279-10281)Acc>Ccc	p.T3427P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3427	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2019P(1)|p.T3427P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCCTCACCACCCGGGCCAG	0.552000													5	10					0	0	0.021553	0	0
SPEG	10290	broad.mit.edu	37	2	220331957	220331957	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	57	104					0	0	0.139131	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326111	63326111	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:63326111G>A	ENST00000255695.1	-	3	198	c.140C>T	c.(139-141)gCg>gTg	p.A47V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	47					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	p.A47V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GACACTGGCCGCACCAGCTCC	0.582000													4	148					0	0	0.150653	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	55					0	0	0.021553	0	0
EVX1	2128	broad.mit.edu	37	7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657000													4	41					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		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						GGTGAGGTCACGGCAGGTAAA	0.582000													16	56					0	0	0.160694	0	0
ZNF485	220992	broad.mit.edu	37	10	44104060	44104060	+	Splice_Site	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:44104060A>T	ENST00000361807.3	+	3	218		c.e3-1		ZNF485_ENST00000374435.3_Splice_Site|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGGTTTTGCAGGGACCGCTG	0.562000													6	15					0	0	0.021553	0	0
MYH4	4622	broad.mit.edu	37	17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438000													38	90					0	0	0.214465	0	0
TOP2A	7153	broad.mit.edu	37	17	38555127	38555127	+	Silent	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:38555127G>T	ENST00000423485.1	-	26	3509	c.3351C>A	c.(3349-3351)tcC>tcA	p.S1117S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATCTGTTACGGAGTCACTCT	0.353000													8	57					0.000157383	0.000175745	0.038147	1	0
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:51749117G>A	ENST00000412531.3	+	2	345	c.273G>A	c.(271-273)caG>caA	p.Q91Q	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	91					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358000													5	66					0	0	0.029380	0	0
IGDCC4	57722	broad.mit.edu	37	15	65687537	65687537	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr15:65687537G>A	ENST00000352385.2	-	8	1680	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	491	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R491W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGGTCCCGAACCTGTAGT	0.572000													18	39					0	0	0.189662	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498553	111498553	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:111498553C>T	ENST00000368851.5	+	3	802	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	209					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCACTGCTGGCAGCAGTGTCT	0.498000													28	78					0	0	0.125774	0	0
HFM1	164045	broad.mit.edu	37	1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303000													7	86					0.00307968	0.00332804	0.038147	1	0
SIX1	6495	broad.mit.edu	37	14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627000													6	189					0	0	0.029380	0	0
TSHR	7253	broad.mit.edu	37	14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	92					0	0	0.134883	0	0
DCBLD2	131566	broad.mit.edu	37	3	98519475	98519475	+	Silent	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507000													3	153					0	0	0.115264	0	0
FOXL1	2300	broad.mit.edu	37	16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726000													18	73					0	0	0.175082	0	0
KANK4	163782	broad.mit.edu	37	1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429								p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547000													6	224					0	0	0.021553	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413000													18	25					0	0	0.069288	0	0
ADA	100	broad.mit.edu	37	20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000537820.1_Missense_Mutation_p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602000									Adenosine Deaminase Deficiency				14	66					4.3838e-07	5.04551e-07	0.105934	1	0
ZNF799	90576	broad.mit.edu	37	19	12501649	12501649	+	Silent	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr19:12501649T>A	ENST00000419318.1	-	4	2216	c.1467A>T	c.(1465-1467)gtA>gtT	p.V489V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.V521V			Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388000													5	76					0	0	0.184627	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													3	9					0	0	0.115264	0	0
PLBD2	196463	broad.mit.edu	37	12	113822716	113822716	+	Silent	SNP	C	C	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr12:113822716C>G	ENST00000280800.3	+	8	1210	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	393					lipid catabolic process	lysosomal lumen	hydrolase activity	p.P393P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGCCCAGCCCCGGGAGCCGGG	0.667000													3	39					0	0	0.115264	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326111	63326111	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr11:63326111G>A	ENST00000255695.1	-	3	198	c.140C>T	c.(139-141)gCg>gTg	p.A47V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	47					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	p.A47V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GACACTGGCCGCACCAGCTCC	0.582000													4	148					0	0	0.150653	0	0
TPX2	22974	broad.mit.edu	37	20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr20:30363692G>T	ENST00000340513.4	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418000													24	54					1.66031e-10	1.98586e-10	0.091800	1	0
RWDD2A	112611	broad.mit.edu	37	6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433000													42	69					0	0	0.111260	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384117	62384117	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr11:62384117G>A	ENST00000531383.1	-	4	976	c.770C>T	c.(769-771)gCc>gTc	p.A257V	B3GAT3_ENST00000265471.5_Missense_Mutation_p.A257V|B3GAT3_ENST00000534026.1_Missense_Mutation_p.A257V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	257					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.A257V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CAGGGCCACGGCAAATCCAGC	0.612000													3	52					0	0	0.115264	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269000													27	68					0	0	0.125774	0	0
COL16A1	1307	broad.mit.edu	37	1	32150183	32150183	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr1:32150183G>A	ENST00000373672.3	-	31	2617	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	COL16A1_ENST00000271069.6_Missense_Mutation_p.R700W|COL16A1_ENST00000373668.3_Missense_Mutation_p.R701W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	701	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R701W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGCCGCCCTGTGGTG	0.637000													11	81					0	0	0.080935	0	0
ZNF214	0	broad.mit.edu	37	11	7021497	7021497	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr11:7021497G>C	ENST00000278314.4	-	3	1732	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF214_ENST00000536068.1_Missense_Mutation_p.P473A	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P473A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACATTCAGGACAAGTATAG	0.438000													12	52					0	0	0.093190	0	0
SIX2	10736	broad.mit.edu	37	2	45233549	45233549	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212						nucleus	sequence-specific DNA binding transcription factor activity	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632000													39	105					0	0	0.104719	0	0
ANO3	63982	broad.mit.edu	37	11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D|ANO3_ENST00000525139.1_Missense_Mutation_p.E509D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525						chloride channel complex	chloride channel activity	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383000													9	31					9.70103e-10	1.13801e-09	0.069234	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138197133	138197133	+	Splice_Site	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.634_splice	c.e5-1	p.D212_splice	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								20	78					0	0	0.083992	0	0
ZNF366	0	broad.mit.edu	37	5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642000													5	182					0	0	0.021553	0	0
LBP	3929	broad.mit.edu	37	20	36974956	36974956	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr20:36974956C>T	ENST00000217407.2	+	1	198	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	13					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L13L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTCCATACTGCTGGCATTGCT	0.617000													11	117					0	0	0.080935	0	0
CEP170B	283638	broad.mit.edu	37	14	105349541	105349541	+	Silent	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr14:105349541G>A	ENST00000453495.1	+	8	978	c.750G>A	c.(748-750)acG>acA	p.T250T	CEP170B_ENST00000414716.3_Silent_p.T249T|CEP170B_ENST00000418279.1_Silent_p.T179T|CEP170B_ENST00000556508.1_Silent_p.T179T					centrosomal protein 170B									p.T249T(2)|p.T180T(1)|p.T179T(1)									AGATGCCCACGAAGGATGCAG	0.667000													6	36					0	0	0.047766	0	0
HEATR2	54919	broad.mit.edu	37	7	796543	796543	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr7:796543G>C	ENST00000297440.6	+	6	1402	c.1382G>C	c.(1381-1383)cGg>cCg	p.R461P	HEATR2_ENST00000313147.5_Missense_Mutation_p.R461P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	461							protein binding	p.R461P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCGCCATGCGGGGTTGCCCC	0.622000													11	84					0	0	0.093190	0	0
KIF21B	23046	broad.mit.edu	37	1	200960075	200960075	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr1:200960075G>T	ENST00000332129.2	-	18	2973	c.2657C>A	c.(2656-2658)gCg>gAg	p.A886E	KIF21B_ENST00000360529.5_Missense_Mutation_p.A886E|KIF21B_ENST00000461742.2_Missense_Mutation_p.A886E|KIF21B_ENST00000422435.2_Missense_Mutation_p.A886E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	886					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A886E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAGTGGGCGCAGGATGGTC	0.632000													7	96					0.00307968	0.00335465	0.038147	1	0
QKI	9444	broad.mit.edu	37	6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448000													20	41					0	0	0.062417	0	0
RP1	6101	broad.mit.edu	37	8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597000													4	133					0	0	0.150653	0	0
PFN2	5217	broad.mit.edu	37	3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473000													70	190					3.13743e-37	3.82766e-37	0.139131	1	0
CCDC8	83987	broad.mit.edu	37	19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32						plasma membrane		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637000													3	78					0	0	0.115264	0	0
GLP2R	9340	broad.mit.edu	37	17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGGCCTCATTCTTCTCCTG	0.428000													15	140					0	0	0.189662	0	0
CCDC57	284001	broad.mit.edu	37	17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468000													5	92					0	0	0.184627	0	0
TRGC1	0	broad.mit.edu	37	7	38305254	38305254	+	RNA	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr7:38305254G>A	ENST00000443402.2	-	0	25					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TGGGCTTGGGGGAAACATCTG	0.378000													81	196					0	0	0.139131	0	0
BMP2K	55589	broad.mit.edu	37	4	79786791	79786791	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr4:79786791C>T	ENST00000335016.5	+	10	1314	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	BMP2K_ENST00000502871.1_Missense_Mutation_p.T383I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	383						nucleus	ATP binding|protein serine/threonine kinase activity	p.T383I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTACTGCCACTCCCAGTGTG	0.443000													15	69					0	0	0.146539	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413000													18	25					0	0	0.069288	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393000													5	231					0	0	0.184627	0	0
DNAH10	196385	broad.mit.edu	37	12	124399457	124399457	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr12:124399457A>C	ENST00000409039.3	+	61	10304	c.10279A>C	c.(10279-10281)Acc>Ccc	p.T3427P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3427	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2019P(1)|p.T3427P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATCCTCACCACCCGGGCCAG	0.552000													5	10					0	0	0.021553	0	0
SPEG	10290	broad.mit.edu	37	2	220331957	220331957	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692000											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	57	104					0	0	0.139131	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	55					0	0	0.021553	0	0
EVX1	2128	broad.mit.edu	37	7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1_ENST00000222761.3_Intron|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657000													4	41					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		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						GGTGAGGTCACGGCAGGTAAA	0.582000													16	56					0	0	0.160694	0	0
ZNF485	220992	broad.mit.edu	37	10	44104060	44104060	+	Splice_Site	SNP	A	A	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr10:44104060A>T	ENST00000361807.3	+	3	218		c.e3-1		ZNF485_ENST00000374435.3_Splice_Site|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGGTTTTGCAGGGACCGCTG	0.562000													6	15					0	0	0.021553	0	0
MYH4	4622	broad.mit.edu	37	17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438000													38	90					0	0	0.214465	0	0
TOP2A	7153	broad.mit.edu	37	17	38555127	38555127	+	Silent	SNP	G	G	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr17:38555127G>T	ENST00000423485.1	-	26	3509	c.3351C>A	c.(3349-3351)tcC>tcA	p.S1117S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATCTGTTACGGAGTCACTCT	0.353000													8	57					0.000157383	0.000177785	0.038147	1	0
IGDCC4	57722	broad.mit.edu	37	15	65687537	65687537	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr15:65687537G>A	ENST00000352385.2	-	8	1680	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	491	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R491W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGGTCCCGAACCTGTAGT	0.572000													18	39					0	0	0.189662	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498553	111498553	+	Silent	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr6:111498553C>T	ENST00000368851.5	+	3	802	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SLC16A10_ENST00000465319.1_3'UTR|SLC16A10_ENST00000368850.3_5'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	209					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCACTGCTGGCAGCAGTGTCT	0.498000													28	78					0	0	0.125774	0	0
HFM1	164045	broad.mit.edu	37	1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303000													7	86					0.00307968	0.00335465	0.038147	1	0
SIX1	6495	broad.mit.edu	37	14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627000													6	189					0	0	0.029380	0	0
TSHR	7253	broad.mit.edu	37	14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	92					0	0	0.134883	0	0
DCBLD2	131566	broad.mit.edu	37	3	98519475	98519475	+	Silent	SNP	A	A	C			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507000													3	153					0	0	0.115264	0	0
FOXL1	2300	broad.mit.edu	37	16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726000													18	73					0	0	0.175082	0	0
KANK4	163782	broad.mit.edu	37	1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429								p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547000													6	224					0	0	0.021553	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													8	20					0	0	0.038147	0	0
RC3H1	149041	broad.mit.edu	37	1	173941766	173941767	+	Splice_Site	INS	-	-	TA			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361													11	69	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)cfs	p.LD208fs	PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	208					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)					16	56	---	---	---	---					
LINC00933	0	broad.mit.edu	37	15	85115422	85115423	+	RNA	INS	-	-	T	rs60884952		TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr15:85115422_85115423insT	ENST00000557887.1	+	0	0_1					NR_038273.1|NR_038274.1																						ACATAATGCTCttttttttttt	0.391													4	6	---	---	---	---					
ZNF850	342892	broad.mit.edu	37	19	37239224	37239224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:37239224delA	ENST00000591344.1	-	5	2876	c.2718delT	c.(2716-2718)ttfs	p.F906fs	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	906					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACGACGTCTAAAGGCCTTGC	0.418													2	4	---	---	---	---					
KLK2	3817	broad.mit.edu	37	19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)tfs	p.N102fs	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate								15	34	---	---	---	---					
SFI1	9814	broad.mit.edu	37	22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	ENST00000432498.1	+	22	2708	c.2315delG	c.(2314-2316)agfs	p.R772fs	SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622													10	26	---	---	---	---					
RC3H1	149041	broad.mit.edu	37	1	173941766	173941767	+	Splice_Site	INS	-	-	TA			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000367694.2_Splice_Site|RC3H1_ENST00000258349.4_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361													11	69	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)cfs	p.LD208fs	ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	208					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)					16	56	---	---	---	---					
ZNF850	342892	broad.mit.edu	37	19	37239224	37239224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr19:37239224delA	ENST00000591344.1	-	5	2876	c.2718delT	c.(2716-2718)ttfs	p.F906fs	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	906					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AACGACGTCTAAAGGCCTTGC	0.418													2	4	---	---	---	---					
KLK2	3817	broad.mit.edu	37	19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)tfs	p.N102fs	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate								15	34	---	---	---	---					
SFI1	9814	broad.mit.edu	37	22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	44312311-a61f-42e5-afb3-06d52a380885	g.chr22:32007282delG	ENST00000432498.1	+	22	2708	c.2315delG	c.(2314-2316)agfs	p.R772fs	SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622													10	26	---	---	---	---					
