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
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	C	T	rs141013110		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	204					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:39274170G>T	uc002hvz.3	-	0	437	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.P132T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672000													4	70					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637224	60637224	+	Missense_Mutation	SNP	C	C	T	rs138582317		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60637224C>T	uc001nqd.3	+	2	553	c.533C>T	c.(532-534)gCc>gTc	p.A178V	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	178					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTGGCCATGCCTTTCCCAGC	0.632000													51	7					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120637130	120637130	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:120637130G>A	uc001txp.3	-	2	450	c.213C>T	c.(211-213)aaC>aaT	p.N71N	RPLP0_uc001txr.3_Silent_p.N71N|RPLP0_uc001txq.3_Silent_p.N71N|RPLP0_uc021ret.1_5'Flank|LOC100506649_uc021reu.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	71					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	RNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCTGGGTTGTTTTCCAGGT	0.567000													51	101					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75608914	75608914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:75608914C>A	uc001dgo.3	+	5	1165	c.501C>A	c.(499-501)tgC>tgA	p.C167*	LHX8_uc021oou.1_Nonsense_Mutation_p.C167*|LHX8_uc001dgq.3_Nonsense_Mutation_p.C106*	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	167	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GCTTTTCCTGCAAAAGGCAAC	0.478000													4	89					0	0	1	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716936	13716936	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:13716936G>A	uc009vnz.1	+	1	453	c.423G>A	c.(421-423)acG>acA	p.T141T		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	141										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCAAGGACGGGAGAGCACC	0.532000													8	307					0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620188	82620188	+	RNA	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:82620188A>G	uc021ssl.1	+	18		c.3668A>G			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GCCCACTGTTAGGGTGGCTTC	0.637000													3	29					0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179263548	179263548	+	Silent	SNP	G	G	A	rs143977783		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:179263548G>A	uc003mkw.4	+	7	1373	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	SQSTM1_uc011dgr.2_Silent_p.A342A|SQSTM1_uc011dgs.2_Silent_p.A342A|SQSTM1_uc003mkx.3_Silent_p.A342A	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	426	Interaction with NTRK1 (By similarity).|UBA.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATCGGAGCGGCTCTGGACA	0.557000													8	186					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569235	179569235	+	Splice_Site	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:179569235A>G	uc021vsy.1	-	102	26455	c.26230_splice	c.e102+1	p.E8744_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E5405_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9671	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTAACTTACCAATTACAG	0.378000													30	39					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41772461	41772461	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:41772461C>T	uc001zny.3	+	16	1976	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	655					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGTGACCTCTCAGAAGATCTG	0.448000													49	67					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118680	118680	+	RNA	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrGL000205.1:118680T>C	uc002kgk.4	+	0		c.2058T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGTGATTTATTAACGCCCAA	0.378000													5	10					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:86415593G>A	uc003uid.3	+	2	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	GRM3_uc010lef.3_Missense_Mutation_p.R160Q|GRM3_uc010leg.3_Missense_Mutation_p.R34Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522000													158	37					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49726195	49726195	+	Splice_Site	SNP	T	T	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:49726195T>G	uc003cxg.3	-	1	1	c.-71_splice	c.e1-1		MST1_uc011bcs.1_Splice_Site|MST1_uc010hkx.2_Splice_Site|MST1_uc011bct.1_Splice_Site|MST1_uc011bcu.1_Splice_Site|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.						proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGCCTGCTGGACCCTGAC	0.612000											OREG0000235	type=REGULATORY REGION|Gene=MST1	3	9					0	0	1	0	0
STAG3L2	442582	broad.mit.edu	37	7	74298939	74298939	+	RNA	SNP	G	G	C	rs142156061	by1000genomes	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:74298939G>C	uc011kfj.2	-	7		c.1037C>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTCCCCCACGCCATGCCACC	0.537000													3	3					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5262848	5262848	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:5262848G>A	uc003jdl.3	+	17	2879	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R914Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCAAGACACGACCTGTCACG	0.512000													65	82					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	404	404	+	RNA	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrGL000237.1:404G>A	uc011mgu.1	-	1		c.814C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		gggatcccatgacaccaaaac	0.473000													3	8					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354770	77354770	+	Missense_Mutation	SNP	C	C	T	rs142946646		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:77354770C>T	uc004ajl.1	-	33	5594	c.5356G>A	c.(5356-5358)Gtc>Atc	p.V1786I	TRPM6_uc004ajk.1_Missense_Mutation_p.V1781I|TRPM6_uc022bib.1_Missense_Mutation_p.V1781I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.V737I|TRPM6_uc010mpd.1_Missense_Mutation_p.V619I|TRPM6_uc010mpe.1_Missense_Mutation_p.V333I|TRPM6_uc004ajj.1_Missense_Mutation_p.V742I	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1786	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAAGTGCTGACGACTCTCATA	0.502000													4	88					0	0	1	0	0
CDKN2B	1030	broad.mit.edu	37	9	22006054	22006054	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:22006054C>T	uc003zpo.3	-	1	709	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	117					G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|cell cycle arrest|cellular response to nutrient|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		GCCAAGTCCACGGGCAGACGA	0.716000													12	20					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572491	47572491	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:47572491C>A	uc002pga.4	-	13	2294	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	752							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCCTGGCTTCGGCCGGCCTG	0.677000													5	51					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7075	7075	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrM:7075G>A	uc011mfh.2	+	0	1175	c.174G>A	c.(172-174)agG>agA	p.R58R	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		TGCCATCATAGGAGGCTTCAT	0.423000													6	78					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:7578478G>C	uc002gim.2	-	4	646	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_uc002gig.1_Missense_Mutation_p.P151R|TP53_uc002gih.3_Missense_Mutation_p.P151R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P19R|TP53_uc010cnf.1_Missense_Mutation_p.P19R|TP53_uc002gii.1_Missense_Mutation_p.P19R|TP53_uc010cni.1_Missense_Mutation_p.P151R|TP53_uc010cnh.1_Missense_Mutation_p.P151R|TP53_uc002gij.2_Missense_Mutation_p.P151R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P58R|TP53_uc002gio.2_Missense_Mutation_p.P19R|TP53_uc010vug.2_Missense_Mutation_p.P112R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(66)|p.P151H(58)|p.P151R(16)|p.P151L(14)|p.P151T(14)|p.P151P(12)|p.T150fs*16(10)|p.P151A(9)|p.0?(8)|p.P151fs*30(8)|p.?(5)|p.T150I(4)|p.P151_V173del23(2)|p.P151del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P58H(2)|p.Q144_G154del11(2)|p.P19H(2)|p.T150_P151delTP(2)|p.P152_P153del(1)|p.T150R(1)|p.P152fs*28(1)|p.T150fs*23(1)|p.T150K(1)|p.T57fs*16(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.P19R(1)|p.Q144fs*16(1)|p.T150fs*31(1)|p.P152fs*14(1)|p.T18fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGGCGGGGGTGTGGAATC	0.607000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			52	18					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23856835	23856835	+	Missense_Mutation	SNP	C	C	T	rs146272783	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:23856835C>T	uc002wtr.1	-	2	486	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001900	NP_001891	P28325	CYTD_HUMAN	Homo sapiens cystatin D (CST5), mRNA.	140						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						CTAGACTTTCCGGCACTTGTA	0.527000													52	69					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152311546	152311546	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:152311546T>C	uc002txm.3	+	21	2643	c.2482T>C	c.(2482-2484)Ttc>Ctc	p.F828L	RIF1_uc010fnv.2_Missense_Mutation_p.F792L|RIF1_uc002txn.3_Missense_Mutation_p.F828L|RIF1_uc002txl.3_Missense_Mutation_p.F828L|RIF1_uc002txo.3_Missense_Mutation_p.F828L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	828					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATACCCTCTTCACTATTGG	0.383000													59	97					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406264	38406264	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:38406264G>A	uc003jlc.2	+	6	1095	c.749G>A	c.(748-750)cGt>cAt	p.R250H	EGFLAM_uc003jlb.2_Missense_Mutation_p.R250H|EGFLAM_uc003jle.2_Missense_Mutation_p.R16H|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	250						cell junction|proteinaceous extracellular matrix|synapse		p.R250S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATGGACCCCGTTATATCACC	0.483000													33	55					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517577	517577	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:517577C>A	uc003gak.4	+	8	2080	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	PIGG_uc003gaj.4_Silent_p.G640G|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.G515G|PIGG_uc003gal.4_Silent_p.G559G	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	648					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCTCAGAGGCCGCGAGAAGT	0.652000													22	32					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89106611	89106611	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:89106611C>T	uc001pct.3	-	11	1363	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E	NOX4_uc009yvr.3_Missense_Mutation_p.G350E|NOX4_uc001pcu.3_Missense_Mutation_p.G301E|NOX4_uc001pcw.3_Missense_Mutation_p.G68E|NOX4_uc001pcx.3_Missense_Mutation_p.G68E|NOX4_uc001pcv.3_Missense_Mutation_p.G375E|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.G209E|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.G351E|NOX4_uc009yvq.3_Missense_Mutation_p.G351E	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	375	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity	p.G375E(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTCCAGTCTCCTACTATTTT	0.279000													6	89					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90690676	90690676	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrX:90690676C>T	uc022bzs.1	+	0	100	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	PABPC5_uc004efg.3_Missense_Mutation_p.L34F	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	34	RRM 1.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGAGGACATGCTCTATAAGAA	0.572000													16	15					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224655	15224655	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15224655G>A	uc002nah.1	+	7	2120	c.2089G>A	c.(2089-2091)Ggt>Agt	p.G697S	SYDE1_uc002nai.1_Missense_Mutation_p.G630S|SYDE1_uc002naj.1_Missense_Mutation_p.G354S	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	697					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GAGGGTCACCGGTGACTTCGA	0.622000													6	311					0	0	1	0	0
HIGD1A	25994	broad.mit.edu	37	3	42827564	42827564	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:42827564A>G	uc010hid.3	-	2	481	c.230T>C	c.(229-231)aTg>aCg	p.M77T	HIGD1A_uc003cma.4_Missense_Mutation_p.M63T|HIGD1A_uc003cmb.4_Missense_Mutation_p.M63T	NM_001099668	NP_054775	Q9Y241	HIG1A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 1A (HIGD1A), transcript variant 1, mRNA.	63	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGCCACACGCATGTGGATCAG	0.383000													25	35					0	0	1	0	0
C9orf100	84904	broad.mit.edu	37	9	35664430	35664430	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:35664430C>T	uc003zxm.1	-	2	405	c.293G>A	c.(292-294)cGc>cAc	p.R98H	C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc011loz.1_Missense_Mutation_p.R98H	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	98	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCAAGTGGCGGCAGAAGCC	0.567000													46	66					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41386411	41386411	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:41386411G>T	uc002opm.3	-	2	1008	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	CYP2A7_uc002opo.3_Missense_Mutation_p.L156I|CYP2A7_uc002opn.3_Missense_Mutation_p.L105I	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	156						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCTCGATGAGGAAGCCCGAC	0.667000													11	105					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634873	37634873	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:37634873C>A	uc002xjh.3	+	11	1126	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	DHX35_uc010zwa.2_Silent_p.R211R|DHX35_uc010zwc.2_Silent_p.R335R|DHX35_uc010zwb.2_Silent_p.R211R	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	366	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R366R(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGTGAAACTCCGAGCCTACAA	0.532000													102	558					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913905	32913905	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:32913905A>G	uc001uub.1	+	10	5640	c.5413A>G	c.(5413-5415)Aat>Gat	p.N1805D		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1805			N -> S.		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACAAACTGTAAATGAAGATAT	0.313000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			17	100					0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167689260	167689260	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:167689260C>G	uc010jjd.3	+	28	7743	c.7743C>G	c.(7741-7743)agC>agG	p.S2581R	ODZ2_uc003lzr.4_Missense_Mutation_p.S2351R|ODZ2_uc003lzt.4_Missense_Mutation_p.S1954R|ODZ2_uc010jje.3_Missense_Mutation_p.S1845R	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCATCGCCAGCGAAGATAGCC	0.557000													9	15					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:52661488C>T	uc001vge.3	-	14	1518	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	460							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E517K(2)|p.E460K(2)|p.W460*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393000													5	101					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22428688	22428688	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:22428688G>A	uc003xbv.3	+	17	2037	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	SORBS3_uc003xbw.4_Missense_Mutation_p.R224H	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	566					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCCCCCCGTCGCACTGGCTTC	0.697000													35	54					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56477655	56477655	+	Missense_Mutation	SNP	C	C	T	rs142735651		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:56477655C>T	uc001sjh.3	+	1	479	c.203C>T	c.(202-204)aCg>aTg	p.T68M	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.T9M|ERBB3_uc001sjg.3_Missense_Mutation_p.T68M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	68					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATTGTGCTCACGGGACACAAT	0.547000													82	135					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9519169	9519169	+	Silent	SNP	G	G	C	rs35776705		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:9519169G>C	uc002qzh.2	+	18	2269	c.1929G>C	c.(1927-1929)ggG>ggC	p.G643G	ASAP2_uc002qzi.2_Silent_p.G643G	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	643					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCTGCGGGGGAAGGCCTCCA	0.642000													9	33					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68643609	68643609	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:68643609C>G	uc010bib.3	-	7	968	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ITGA11_uc002ari.3_Missense_Mutation_p.R294T	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	294	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CACCGCATATCTTGTTACGTT	0.557000													10	38					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104122106	104122106	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:104122106C>A	uc010ouo.2	+	21	3224	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	AMY2B_uc001duq.3_Missense_Mutation_p.A507D|AMY2B_uc001dur.3_Missense_Mutation_p.A507D|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	507					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GCAATTCATGCTGAATCtaaa	0.294000													27	310					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547800	125547800	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:125547800C>T	uc001qcs.3	-	1	563	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	ACRV1_uc001qcl.3_Missense_Mutation_p.G79S|ACRV1_uc001qcn.3_Missense_Mutation_p.G94S|ACRV1_uc001qcr.3_Missense_Mutation_p.G149S	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	149	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCACCGGAGCCATGTTCACCT	0.552000													8	162					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153244092G>A	uc003ims.3	-	11	2227	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_uc011cii.2_Missense_Mutation_p.R689W|FBXW7_uc003imt.3_Missense_Mutation_p.R689W|FBXW7_uc011cih.2_Missense_Mutation_p.R513W|FBXW7_uc003imq.3_Missense_Mutation_p.R609W|FBXW7_uc003imr.3_Missense_Mutation_p.R571W	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	689					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R689W(17)|p.R609W(3)|p.R450W(3)|p.?(1)|p.R571W(1)|p.R689Q(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								53	91					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048621	180048621	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:180048621G>A	uc003mlz.4	-	12	2020	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_uc003mma.4_Silent_p.H647H|FLT4_uc003mmb.1_Silent_p.H180H|FLT4_uc011dgy.2_Silent_p.H647H	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	647	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687000													29	36					0	0	1	0	0
AK021933	0	broad.mit.edu	37	GL000195.1	31442	31442	+	RNA	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrGL000195.1:31442C>T	uc003woi.3	-	0		c.539G>A								Homo sapiens cDNA FLJ11871 fis, clone HEMBA1007052.																		TCTCTTCCTCCAGTGAGGCGG	0.537000													4	7					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572948	140572948	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:140572948G>A	uc003lix.3	+	0	997	c.823G>A	c.(823-825)Gcg>Acg	p.A275T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	275	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A275V(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGTCAACGCGGAAGTATC	0.428000													49	60					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8097749	8097749	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:8097749C>T	uc001ijz.3	+	1	688	c.131C>T	c.(130-132)cCg>cTg	p.P44L	FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ika.3_Missense_Mutation_p.P44L	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	44					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TACCCGCTGCCGGAGGAGGTG	0.662000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						6	9					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195511937C>T	uc021xjp.1	-	1	6670	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		GTGGCGTGACCTGTGGATGCT	0.577000													3	5					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	985881	985881	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:985881C>G	uc001ack.2	+	28	5101	c.5051C>G	c.(5050-5052)aCg>aGg	p.T1684R		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1684	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAGAAGACGGACGGCAAG	0.692000													11	117					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr22:36696961T>A	uc003apg.3	-	21	3005	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V	MYH9_uc003aph.1_Missense_Mutation_p.E789V	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	925					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTCCTCCTCCACCCTGGC	0.647000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				4	127					0	0	1	0	0
TSC22D1	8848	broad.mit.edu	37	13	45148061	45148061	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:45148061G>T	uc001uzn.4	-	0	2641	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	717	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTGCTGCCGGAGCCTGGCC	0.577000													16	205					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157739929	157739929	+	Missense_Mutation	SNP	G	G	A	rs139872242		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:157739929G>A	uc001fre.2	-	3	381	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.R108C|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.R108C	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	108					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCACAGGACGTTGAAAGAGC	0.527000													38	30					0	0	1	0	0
AK308561	0	broad.mit.edu	37	9	68410212	68410212	+	RNA	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:68410212G>A	uc004aew.1	+	0		c.215G>A								Homo sapiens cDNA, FLJ98602.																		aagggggtccgcgtgagaggg	0.507000													3	8					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768484	31768484	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:31768484G>T	uc002nsy.4	-	1	2280	c.2215C>A	c.(2215-2217)Ccc>Acc	p.P739T		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	739					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCAGGGAGGGCTTGGCGGCC	0.617000													43	90					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71847090	71847090	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:71847090C>T	uc001ory.1	+	1	142	c.92C>T	c.(91-93)aCg>aTg	p.T31M	FOLR3_uc001orx.1_Missense_Mutation_p.T31M			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	29					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CGGGCCAGGACGGACCTGCTC	0.622000													30	166					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921045	24921045	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:24921045G>A	uc001ywo.3	+	0	505	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	11					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ATTTAGACCCGGGTGCCGCCG	0.662000													7	8					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C	rs137871677	by1000genomes	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:29625905T>C	uc010ztl.1	+	1	91	c.59T>C	c.(58-60)cTt>cCt	p.L20P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000													5	165					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149777	153149777	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:153149777C>A	uc011dcy.2	+	12	2129	c.2102C>A	c.(2101-2103)gCa>gAa	p.A701E	GRIA1_uc003lva.4_Missense_Mutation_p.A691E|GRIA1_uc003luy.4_Missense_Mutation_p.A691E|GRIA1_uc003luz.4_Missense_Mutation_p.A596E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.A611E|GRIA1_uc011dcx.2_Missense_Mutation_p.A622E|GRIA1_uc011dcz.2_Missense_Mutation_p.A701E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	691					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAAGTCAGCAGAGCCATCA	0.473000													39	123					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10142903	10142903	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:10142903A>G	uc003bux.1	+	43	4391	c.4313A>G	c.(4312-4314)gAa>gGa	p.E1438G	FANCD2_uc003buy.1_Missense_Mutation_p.E1438G|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_001018115	NP_001018125	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 2, mRNA.	0					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTGCTGGAGAAAAGGAGCAA	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	75					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511678	195511678	+	Missense_Mutation	SNP	G	G	A	rs71634713		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195511678G>A	uc021xjp.1	-	1	6929	c.6773C>T	c.(6772-6774)cCt>cTt	p.P2258L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	27					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		GTCGGTGACAGGAAGAGGGGT	0.577000													3	11					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180304	34180304	+	Missense_Mutation	SNP	C	C	T	rs141181841	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:34180304C>T	uc001bxm.1	-	20	3466	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	CSMD2_uc001bxn.1_Missense_Mutation_p.V1057M	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1057						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTCGCCCACGCCAAACTGC	0.662000													139	67					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040384	134040384	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:134040384G>T	uc010quu.1	-	3	714	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	STK32C_uc001lld.1_Missense_Mutation_p.Q70K|STK32C_uc001lle.1_Missense_Mutation_p.Q187K|STK32C_uc009ybc.1_Missense_Mutation_p.Q70K|STK32C_uc009ybd.1_Missense_Mutation_p.Q70K|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	187	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCGGAGAACTGCACGTTCTGC	0.622000													69	64					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813672	248813672	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:248813672G>C	uc010pzo.2	-	0	514	c.514C>G	c.(514-516)Cgg>Ggg	p.R172G		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGATCTCCCGAGAGGCACAG	0.557000													15	127					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623562	169623562	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:169623562G>A	uc003qwt.3	-	18	3030	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	928					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATATCACCCCGTCCATCACCT	0.403000													4	53					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325498	31325498	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr18:31325498C>A	uc010dmg.1	+	11	5741	c.5686C>A	c.(5686-5688)Cag>Aag	p.Q1896K	ASXL3_uc002kxq.2_Missense_Mutation_p.Q1603K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGGTCAAACAGCAAAAGCG	0.507000													28	430					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197060125	197060125	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:197060125T>A	uc001gtu.3	-	22	9748	c.9491A>T	c.(9490-9492)tAt>tTt	p.Y3164F	ASPM_uc001gtv.3_Missense_Mutation_p.Y1579F|ASPM_uc001gtw.4_Missense_Mutation_p.Y1012F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3164					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATGCTATGATATTTCTGAAT	0.343000													6	44					0	0	1	0	0
MRPS7	51081	broad.mit.edu	37	17	73258657	73258657	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:73258657G>C	uc002jnm.4	+	1	396	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	55					translation	cytosolic small ribosomal subunit|mitochondrion	RNA binding|protein binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCGCAAGCCAGTGGAGGAGCT	0.493000													12	221					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15601455	15601455	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:15601455C>T	uc003stb.1	-	0	186	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	6					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCTGCTGGGCTTCTGGGTTC	0.448000													12	106					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60161317	60161317	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60161317T>A	uc001npe.3	+	6	851	c.706T>A	c.(706-708)Tca>Aca	p.S236T	MS4A7_uc001npf.3_Missense_Mutation_p.S236T|MS4A7_uc001npg.3_Missense_Mutation_p.S191T|MS4A7_uc001nph.3_Missense_Mutation_p.S191T|MS4A14_uc001npi.3_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	236						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AAAGAGTTCTTCACGGTCTTG	0.373000													5	49					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853251	70853251	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:70853251G>A	uc003tvy.3	+	2	453	c.453G>A	c.(451-453)ctG>ctA	p.L151L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	151	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAGGACCTGCCCCAGATAT	0.542000													6	66					0	0	1	0	0
AK021933	0	broad.mit.edu	37	GL000195.1	31609	31609	+	RNA	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrGL000195.1:31609G>A	uc003woi.3	-	0		c.372C>T								Homo sapiens cDNA FLJ11871 fis, clone HEMBA1007052.																		CCCTGAGCCAGAGATATGCTG	0.567000													4	6					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195508382	195508382	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:195508382G>A	uc021xjp.1	-	1	10225	c.10069C>T	c.(10069-10071)Cac>Tac	p.H3357Y	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	140					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		GGGGTGGCGTGACCTGTGGAT	0.602000													3	11					0	0	1	0	0
FAM86B2	653333	broad.mit.edu	37	8	12285188	12285188	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:12285188G>A	uc003wvt.4	-	6	870	c.870C>T	c.(868-870)tgC>tgT	p.C290C	LOC100506990_uc011kxp.1_Intron|DQ587039_uc011kxs.1_5'Flank|AK308439_uc003wvp.1_5'Flank|FAM86B2_uc003wvq.4_Non-coding_Transcript|FAM86B2_uc003wvr.4_Silent_p.C113C|FAM86B2_uc010lsn.3_Non-coding_Transcript|FAM86B2_uc003wvu.4_Silent_p.C99C|FAM86B2_uc010lso.3_Non-coding_Transcript|FAM86B2_uc011kxt.2_Silent_p.C62C|FAM86B2_uc010lsl.3_Non-coding_Transcript|FAM86B2_uc011kxu.2_Non-coding_Transcript	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN	Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA.	290										endometrium(1)|kidney(2)	3						TGAACAGCTGGCATGTCTCTG	0.647000													48	284					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963370	54963370	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:54963370T>G	uc001sgd.2	+	4	844	c.451T>G	c.(451-453)Tct>Gct	p.S151A	PDE1B_uc010soz.2_Missense_Mutation_p.S14A|PDE1B_uc010spa.1_Missense_Mutation_p.S110A|PDE1B_uc001sge.3_Missense_Mutation_p.S131A|PDE1B_uc001sgf.3_Missense_Mutation_p.S14A|PDE1B_uc009znq.3_Intron	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	151					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCCCACTTACTCTACTGCGGT	0.498000													10	28					0	0	1	0	0
NAPSB	256236	broad.mit.edu	37	19	50837596	50837596	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:50837596A>G	uc002prw.3	-	7	996	c.220T>C	c.(220-222)Ttt>Ctt	p.F74L	NR1H2_uc002prv.4_Intron					Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.											central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						GTGAGATTAAACCAGACCCCC	0.527000													12	12					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28474383	28474383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:28474383G>A	uc001zbj.3	-	33	5336	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1744					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAACATTTCGAATGTTCTGT	0.378000													23	297					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37169474	37169474	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:37169474T>C	uc011cpa.1	-	33	6883	c.6652A>G	c.(6652-6654)Aca>Gca	p.T2218A	C5orf42_uc011coy.1_Missense_Mutation_p.T718A|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.T1293A|C5orf42_uc003jkr.1_Missense_Mutation_p.T251A	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2218										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGACTAAATGTTTTTGCATGT	0.418000													5	99					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848629	25848629	+	RNA	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:25848629C>T	uc002wvd.1	-	0		c.158G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						gctgggatgccgtgctgcttc	0.667000													5	20					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815523	156815523	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:156815523A>G	uc010pht.2	-	9	2361	c.2062T>C	c.(2062-2064)Tgc>Cgc	p.C688R	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	688					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCAAGGGCAGCAGTCGGAC	0.632000													20	76					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797376	77797376	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:77797376C>T	uc003ugx.3	-	14	2707	c.2453G>A	c.(2452-2454)cGc>cAc	p.R818H	MAGI2_uc003ugy.3_Missense_Mutation_p.R804H|MAGI2_uc010ldx.1_Missense_Mutation_p.R411H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	818	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTGAAGGCGGCCATCTCT	0.507000													33	101					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58991357	58991357	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:58991357G>A	uc002qsz.3	+	5	890	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ZNF446_uc002qta.3_Missense_Mutation_p.G230R|ZNF446_uc010eur.3_Silent_p.G325G|SLC27A5_uc002qtb.3_Non-coding_Transcript	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGCTCACGGGGACAGGCGTC	0.657000													11	5					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135985085	135985085	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:135985085G>A	uc004cco.3	-	3	532	c.512C>T	c.(511-513)aCg>aTg	p.T171M	RALGDS_uc004ccp.3_Intron|RALGDS_uc004ccq.3_Intron|RALGDS_uc004ccr.3_Missense_Mutation_p.T170M|RALGDS_uc011mcv.2_Intron|RALGDS_uc004ccs.3_Missense_Mutation_p.T116M|RALGDS_uc011mcw.2_Missense_Mutation_p.T242M|RALGDS_uc004ccv.1_5'Flank|RALGDS_uc004ccu.1_5'Flank	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	171	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	p.T171M(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAGGAGGCCGTGAGGGCGTC	0.527000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								6	80					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414374	68414374	+	RNA	SNP	T	T	A	rs113343881		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:68414374T>A	uc004aex.3	+	0		c.929T>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		aagtcaacacttggcttcaga	0.423000													3	16					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153245518	153245518	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153245518G>A	uc003ims.3	-	10	1835	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	FBXW7_uc011cii.2_Missense_Mutation_p.S558F|FBXW7_uc003imt.3_Missense_Mutation_p.S558F|FBXW7_uc011cih.2_Missense_Mutation_p.S382F|FBXW7_uc003imq.3_Missense_Mutation_p.S478F|FBXW7_uc003imr.3_Missense_Mutation_p.S440F	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	558					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTATCAAGAGATCCACTCAC	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								7	11					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10699155	10699156	+	In_Frame_Ins	INS	-	-	TCG			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:10699155_10699156insTCG	uc001aro.3	-	20	5443_5444	c.5123_5124insCGA	c.(5122-5124)gag>gaCGAg	p.1707_1708insD		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1707	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		cgtcgtcgtcctcgtcgtcgtc	0.743													5	9	---	---	---	---					
BAI2	576	broad.mit.edu	37	1	32221719	32221719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:32221719delC	uc001btn.3	-	3	1073	c.719delG	c.(718-720)ggcfs	p.G240fs	BAI2_uc010ogp.2_Frame_Shift_Del_p.G228fs|BAI2_uc010ogq.2_Frame_Shift_Del_p.G240fs|BAI2_uc001bto.3_Frame_Shift_Del_p.G240fs|BAI2_uc001btq.1_Frame_Shift_Del_p.G228fs|BAI2_uc010ogr.1_Frame_Shift_Del_p.G228fs	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	240					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGAGGGCCTGGAGATGT	0.701													26	79	---	---	---	---					
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:85331664_85331665insA	uc001dkl.2	-	0	178_179	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_uc009wcj.1_Frame_Shift_Ins_p.S47fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	47					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401													7	234	---	---	---	---					
BC039356	0	broad.mit.edu	37	1	227618721	227618722	+	RNA	INS	-	-	A	rs71180749		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:227618721_227618722insA	uc001hqv.3	+	3		c.1956_1957insA								Homo sapiens cDNA clone IMAGE:5270051.																		GTTTATATACCAAAAAAAAAAA	0.436													2	4	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242371190	242371193	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:242371190_242371193delGTAA	uc002wbi.2	+	9	1031	c.867_splice	c.e9+1	p.H289_splice	FARP2_uc010zoq.2_Splice_Site_p.H289_splice|FARP2_uc010zor.2_Splice_Site_p.H289_splice	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	289	FERM.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGAGGTTCATGTAAGTATTATTTT	0.333													7	44	---	---	---	---					
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:14219966_14219968delCCT	uc011ave.2	-	1	207	c.103_splice	c.e1+1	p.D35_splice	XPC_uc011avf.2_Splice_Site|XPC_uc011avg.2_Splice_Site_p.D35_splice|LSM3_uc003byn.3_5'Flank	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	35	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	113	---	---	---	---					
AK308867	0	broad.mit.edu	37	16	70269262	70269263	+	RNA	INS	-	-	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr16:70269262_70269263insA	uc010cfp.1	-	0		c.10_11insT								Homo sapiens cDNA, FLJ98908.																		TACTGAATGGTAGGGAAGTGAA	0.391													2	4	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:65822267_65822269delGAG	uc002jgf.3	+	0	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_uc002jge.3_In_Frame_Del_p.E148del|BPTF_uc010wqm.1_In_Frame_Del_p.E148del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	148	Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635													7	165	---	---	---	---					
CARD14	79092	broad.mit.edu	37	17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:78172300_78172301insG	uc002jxw.1	+	12	1955_1956	c.1761_1762insG	c.(1759-1764)ggcgggfs	p.G587fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Frame_Shift_Ins_p.G587fs|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Frame_Shift_Ins_p.G350fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	587	PDZ.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	p.I586I(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGTCATCGGCGGGAACCTCAC	0.678													7	362	---	---	---	---					
RRP7A	27341	broad.mit.edu	37	22	42910685	42910686	+	Splice_Site	INS	-	-	A	rs142905414	by1000genomes	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr22:42910685_42910686insA	uc003bcp.3	-	3	1121	c.627_splice	c.e3+1	p.E209_splice	RRP7A_uc003bcq.3_Splice_Site_p.E186_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	186							RNA binding|nucleotide binding	p.?(2)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCGGGGCCTCTACCTCAGCGAT	0.658													9	29	---	---	---	---					
