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
GRIN2B	2904	broad.mit.edu	37	12	13715749	13715749	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr12:13715749C>T	uc001rbt.2	-	12	4602	c.4423G>A	c.(4423-4425)Gag>Aag	p.E1475K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1475					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAAAGTTTCTCATAAACATGC	0.498000													13	109					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009860	101009860	+	Silent	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:101009860C>T	uc002tam.3	-	6	1316	c.918G>A	c.(916-918)ccG>ccA	p.P306P		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	306					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGGGATAGTCGGGTATGACA	0.522000													8	89					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901546	45901546	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:45901546C>T	uc002pbn.3	-	1	108	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP1R13L_uc002pbo.3_Missense_Mutation_p.D11N|PPP1R13L_uc002pbp.2_Missense_Mutation_p.D11N	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	11					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCCAGAAAGTCCCGCGCGCTC	0.706000													5	32					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67075408	67075408	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:67075408G>C	uc001okj.3	+	7	1061	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Missense_Mutation_p.E149Q	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	295					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACTTCCAAAGAGGTGGGCAG	0.617000													4	34					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109560177	109560177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560177G>A	uc001dwl.3	-	2	581	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	WDR47_uc001dwi.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q69*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	69	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCTAGAGGCTGAATGAACTGA	0.308000													5	49					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578758	9578758	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:9578758C>G	uc002mlp.1	-	9	1075	c.865G>C	c.(865-867)Gat>Cat	p.D289H	ZNF560_uc010dwr.1_Missense_Mutation_p.D183H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D289Y(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAGGATTTATCTTGTGTACAC	0.383000													8	80					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184648	153184648	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:153184648G>A	uc004fjl.2	-	6	949	c.891C>T	c.(889-891)gtC>gtT	p.V297V	ARHGAP4_uc011mzf.2_Silent_p.V234V|ARHGAP4_uc004fjk.2_Silent_p.V257V|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001164741	NP_001158213	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 1, mRNA.	257					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTAGTTACTGACAGCAGCGT	0.572000													9	76					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144371	65144371	+	Silent	SNP	C	C	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65144371C>A	uc001odr.1	-	5	720	c.516G>T	c.(514-516)ctG>ctT	p.L172L	SLC25A45_uc009yqi.1_Silent_p.L110L|SLC25A45_uc001odq.1_Silent_p.L148L|SLC25A45_uc001ods.1_Silent_p.L130L|SLC25A45_uc001odt.1_Silent_p.L130L	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	172					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						GGGTGTCCCTCAGCGTCAGGG	0.652000													20	124					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125490695	125490695	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:125490695C>T	uc001qcd.2	+	17	2218	c.2108C>T	c.(2107-2109)tCa>tTa	p.S703L	STT3A_uc001qce.2_Missense_Mutation_p.S703L|STT3A_uc010sbg.1_Missense_Mutation_p.S611L|STT3A_uc009zbn.2_Missense_Mutation_p.S425L	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	703					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CGAGGCTTGTCAAGGACATAA	0.338000													4	37					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37334481	37334481	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:37334481C>T	uc010ynh.2	-	16	2148	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	EIF2AK2_uc010fab.2_Missense_Mutation_p.E490K|EIF2AK2_uc010yng.2_Missense_Mutation_p.E488K|EIF2AK2_uc010fac.3_Missense_Mutation_p.E531K	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	531	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTTAGTATTTCAGATGTGTTA	0.383000													4	58					0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149677884	149677884	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:149677884G>A	uc003exn.4	+	9	1526	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RNF13_uc003exp.4_Missense_Mutation_p.E248K|RNF13_uc010hvh.3_Missense_Mutation_p.E129K	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	248					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGATGAGTATGAAGATGGAGA	0.323000													14	116					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176852036	176852036	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:176852036G>A	uc001glc.3	-	19	3533	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	ASTN1_uc001glb.1_Silent_p.I1107I|ASTN1_uc001gld.1_Silent_p.I1107I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1115	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATCAGAGAGATGGTGGTGA	0.507000													7	46					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924339	105924339	+	Silent	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:105924339G>A	uc002tcq.3	-	1	504	c.420C>T	c.(418-420)atC>atT	p.I140I	TGFBRAP1_uc002tcr.4_Silent_p.I140I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	140	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGACAGAGATGATGCAAACTT	0.592000													26	131					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962284	69962284	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr4:69962284T>A	uc003heg.4	+	0	92	c.46T>A	c.(46-48)Ttt>Att	p.F16I	UGT2B7_uc010ihq.3_Missense_Mutation_p.F16I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	16					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTGAGCTTTTGCTTTAG	0.418000													33	67					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140004	104140004	+	Splice_Site	SNP	A	A	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:104140004A>C	uc001kux.2	+	37	5170	c.4876_splice	c.e37-2	p.V1626_splice	GBF1_uc001kuy.2_Splice_Site_p.V1622_splice|GBF1_uc001kuz.2_Splice_Site_p.V1623_splice	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1626					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGGGCCATAGGTCTTCCTG	0.572000													19	57					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844402	215844402	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:215844402C>G	uc001hku.1	-	63	14432	c.14045G>C	c.(14044-14046)aGa>aCa	p.R4682T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4682	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGGATTTTCTAGGCTGAGT	0.388000										HNSCC(13;0.011)			10	106					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109560186	109560186	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:109560186G>A	uc001dwl.3	-	2	572	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	WDR47_uc001dwi.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwj.3_Nonsense_Mutation_p.Q66*|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.2_5'UTR	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	66	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAATGAACTGAAGAACTTCA	0.308000													4	48					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203192	41203192	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:41203192G>T	uc003jmk.2	-	1	351	c.141C>A	c.(139-141)caC>caA	p.H47Q	C6_uc003jml.1_Missense_Mutation_p.H47Q	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	47	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACCCACCTGTGTCTGCTCT	0.483000													25	164					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056396	28056396	+	Silent	SNP	T	T	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr6:28056396T>C	uc021yro.1	+	3	1433	c.606T>C	c.(604-606)atT>atC	p.I202I	ZNF165_uc003nkh.3_Silent_p.I202I|ZNF165_uc003nki.4_Silent_p.I202I|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	202					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGAAAAAATTGAATCACAGA	0.363000													33	74					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907290	11907290	+	Silent	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:11907290G>T	uc001ati.3	-	1	429	c.330C>A	c.(328-330)ctC>ctA	p.L110L	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	110					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTTTAGGAGGGCAGATC	0.667000													7	127					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48826312	48826312	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:48826312C>T	uc001zwx.2	-	7	1222	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	276	EGF-like 4; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AAGTTTGTGTCCAGCAGGGCA	0.453000													45	282					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67013890	67013890	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67013890C>G	uc002jhu.3	-	20	2951	c.2808G>C	c.(2806-2808)caG>caC	p.Q936H	ABCA9_uc010dez.3_Missense_Mutation_p.Q936H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	936					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCTATGTTCTGTCGCCTCA	0.368000													21	181					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52909178	52909178	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:52909178G>T	uc002pzh.3	+	4	460	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAATTCATGGATGTGGCCAT	0.458000													16	137					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128467330	128467330	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr2:128467330C>T	uc002tpg.2	-	18	3608	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1137					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCAGAAGCATCAAAATTCTCC	0.577000													7	131					0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34618286	34618286	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:34618286G>C	uc002xer.1	+	11	1591	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H	C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	483										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TAGTGATGAAGATATGTGCCA	0.567000													10	88					0	0	1	0	0
IDI2	91734	broad.mit.edu	37	10	1070568	1070568	+	Silent	SNP	A	A	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:1070568A>G	uc001ifv.1	-	1	161	c.96T>C	c.(94-96)ggT>ggC	p.G32G	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	32					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TGGTGTCGGCACCAATAACCT	0.473000													18	41					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169168	50169168	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:50169168G>A	uc002ppa.3	+	0	770	c.88G>A	c.(88-90)Gag>Aag	p.E30K	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_5'Flank|IRF3_uc021uxq.1_5'Flank|IRF3_uc002pot.2_5'Flank|IRF3_uc021uxr.1_5'Flank|IRF3_uc021uxs.1_5'Flank|IRF3_uc002pow.3_5'Flank|IRF3_uc021uxo.1_5'Flank|IRF3_uc002pou.3_5'Flank|IRF3_uc010end.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.E30K	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	30					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CATGCAAATTGAGCGTGCACC	0.602000													14	26					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96349489	96349489	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr5:96349489G>A	uc003kmv.1	+	11	2687	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	LNPEP_uc003kmw.1_Missense_Mutation_p.D711N	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	725					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TGTTCTGAGTGACAAAGACCG	0.328000													19	118					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234528271	234528271	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr1:234528271G>C	uc001hwd.3	-	28	4588	c.4588C>G	c.(4588-4590)Ctg>Gtg	p.L1530V		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1530					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.L1530V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTCTGCTGCAGATAATCAATT	0.348000													18	85					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318340	129318340	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:129318340G>T	uc004evl.3	+	1	604	c.340G>T	c.(340-342)Gtc>Ttc	p.V114F	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	114					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						ACATGCCGTGGTCTTCGTCTA	0.502000													16	47					0	0	1	0	0
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr9:26995683C>G	uc003zqh.3	-	4	1060	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	IFT74_uc010mja.3_Intron|IFT74_uc010mjb.3_Intron|IFT74_uc003zqf.4_Intron|IFT74_uc003zqg.4_Intron	NM_022901	NP_075052	Q9H756	LRC19_HUMAN	Homo sapiens leucine rich repeat containing 19 (LRRC19), mRNA.	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343000													8	60					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22675710	22675710	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr10:22675710G>C	uc001iri.3	+	4	667	c.500G>C	c.(499-501)gGa>gCa	p.G167A	SPAG6_uc010qct.2_Missense_Mutation_p.G142A|SPAG6_uc009xkh.3_Missense_Mutation_p.G145A|SPAG6_uc001irj.3_Missense_Mutation_p.G167A|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	167					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTGGATGCAGGAGCTGTTCCT	0.463000													4	72					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51276303	51276303	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr15:51276303C>T	uc001zyx.2	+	15	2158	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L	AP4E1_uc021skz.1_Missense_Mutation_p.S609L	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	684					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCTCTTGGTTCAGATGTATCT	0.383000													6	81					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr7:50129291G>A	uc003tou.3	-	1	212	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.R48*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	48					binding of sperm to zona pellucida	extracellular region		p.R48L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284000													3	22					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522886	48522886	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr20:48522886G>A	uc010gie.3	-	2	1183	c.833C>T	c.(832-834)cCt>cTt	p.P278L	SPATA2_uc002xuw.3_Missense_Mutation_p.P278L|SPATA2_uc010zyn.2_Missense_Mutation_p.P141L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.P278P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CGTTGCCACAGGCTCCTTCCG	0.637000													8	76					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18970621	18970621	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chrX:18970621C>T	uc004cyv.4	-	2	706	c.276G>A	c.(274-276)atG>atA	p.M92I	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.M34I	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	92					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CCTGTCTCATCATGCACTGGA	0.478000													6	58					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67261047	67261047	+	Splice_Site	SNP	C	C	G			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr17:67261047C>G	uc002jif.2	-	23	4363	c.3145_splice	c.e23-1	p.I1049_splice	ABCA5_uc002jib.2_Splice_Site_p.I15_splice|ABCA5_uc002jic.2_Splice_Site_p.I272_splice|ABCA5_uc002jid.2_Intron|ABCA5_uc002jie.2_Splice_Site|ABCA5_uc002jig.2_Splice_Site_p.I1049_splice	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1049					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAGCTTTGATCTAAAAAAAAT	0.259000													4	44					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52393384	52393384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr3:52393384delC	uc011bef.2	+	25	4650	c.4389delC	c.(4387-4389)ttcfs	p.F1463fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAACTGTTCCCCCAGCTCT	0.637													2	4	---	---	---	---					
PACS1	55690	broad.mit.edu	37	11	65838203	65838203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr11:65838203delG	uc001oha.2	+	0	380	c.246delG	c.(244-246)tcgfs	p.S82fs	PACS1_uc001ogz.1_Frame_Shift_Del_p.S82fs	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	82	Ser-rich.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CGGTGGCCTCGGGCTCCGCGC	0.741													2	4	---	---	---	---					
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A4UT-01A-11D-A257-08	TCGA-DJ-A4UT-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64a17d5b-8f40-4ccf-8f2f-e68c5fe6b1ff	9d555b5f-01c2-4422-b5c0-76b0146bbff8	g.chr19:55689729delG	uc002qjm.1	-	1	1147	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Frame_Shift_Del_p.P29fs|SYT5_uc002qjo.1_Frame_Shift_Del_p.P29fs	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	29					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P29L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602													2	4	---	---	---	---