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
OR1A1	8383	broad.mit.edu	37	17	3119138	3119138	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:3119138C>T	uc010vrc.2	+	0	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483000													50	129					0	0	0.870114	0	0
VNN3	55350	broad.mit.edu	37	6	133045776	133045776	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:133045776A>G	uc011ecm.2	-	4	1290	c.398T>C	c.(397-399)cTg>cCg	p.L133P	VNN3_uc010kfs.3_Missense_Mutation_p.L99P|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Missense_Mutation_p.L133P|VNN3_uc010kfu.3_Missense_Mutation_p.L133P|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Missense_Mutation_p.L133P|VNN3_uc010kfx.3_Missense_Mutation_p.L99P|VNN3_uc010kfy.3_Missense_Mutation_p.L99P|VNN3_uc010kfz.3_Missense_Mutation_p.L99P					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TACTGTGTGCAGTCCATCAAA	0.388000													6	12					0	0	0.248553	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000													3	38					0	0	0.115264	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045799	26045799	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:26045799G>A	uc003nfv.3	+	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	54					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAATCCGTCGCTACCAGAAG	0.622000													5	35					0	0	0.184627	0	0
TENC1	23371	broad.mit.edu	37	12	53457348	53457348	+	Splice_Site	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:53457348T>C	uc001sbp.3	+	28	4197	c.4062_splice	c.e28-1	p.R1354_splice	TENC1_uc001sbl.3_Splice_Site_p.R1230_splice|TENC1_uc001sbn.3_Splice_Site_p.R1364_splice|TENC1_uc001sbq.3_Splice_Site_p.R752_splice|TENC1_uc001sbr.3_Splice_Site|TENC1_uc009zmr.3_Splice_Site_p.R847_splice	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1354					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTCTGCAGATGGACCAACCC	0.642000													3	88					0	0	0.150653	0	0
BBS7	55212	broad.mit.edu	37	4	122782768	122782768	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:122782768G>A	uc003ied.3	-	3	416	c.232C>T	c.(232-234)Cct>Tct	p.P78S	BBS7_uc003iee.2_Missense_Mutation_p.P78S|BBS7_uc010inq.1_Missense_Mutation_p.P34S	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	78					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCTCCTGAGGTGTGTTGATA	0.418000									Bardet-Biedl syndrome				23	10					0	0	0.639603	0	0
EVX1	2128	broad.mit.edu	37	7	27282671	27282671	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:27282671G>C	uc003szd.1	+	0	508	c.22G>C	c.(22-24)Gtt>Ctt	p.V8L	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.V8L	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AAAGGACATGGTTGTGTTTCT	0.642000													3	7					0	0	0.115264	0	0
CAST	831	broad.mit.edu	37	5	96077000	96077000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:96077000G>A	uc011cuo.1	+	12	922	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	CAST_uc003klt.3_Missense_Mutation_p.A221T|CAST_uc021ybr.1_Missense_Mutation_p.A282T|CAST_uc003klx.3_Missense_Mutation_p.A276T|CAST_uc003klz.1_Missense_Mutation_p.A234T|CAST_uc011cuq.2_Missense_Mutation_p.A82T|CAST_uc021ybs.1_Missense_Mutation_p.A234T|CAST_uc021ybt.1_Missense_Mutation_p.A199T|CAST_uc011cut.2_Missense_Mutation_p.A162T|CAST_uc011cur.2_Missense_Mutation_p.A220T|CAST_uc011cus.2_Missense_Mutation_p.A221T|CAST_uc003kma.2_Missense_Mutation_p.A193T|CAST_uc003kmd.3_Missense_Mutation_p.A212T|CAST_uc010jbj.3_5'UTR|CAST_uc003kmh.3_5'UTR|CAST_uc010jbk.2_5'Flank|CAST_uc003kmi.3_5'Flank|CAST_uc010jbl.2_5'Flank	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	234							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTATAGACGCCTTGTCATC	0.433000													21	29					0	0	0.608945	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84567021	84567021	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:84567021G>A	uc003pke.3	+	3	451	c.300G>A	c.(298-300)ctG>ctA	p.L100L	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	100	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAGCTCTTCTGAAAAATTTTC	0.308000													5	70					0	0	0.361761	0	0
MYO5A	4644	broad.mit.edu	37	15	52720613	52720613	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr15:52720613G>C	uc002aby.2	-	2	536	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	MYO5A_uc002abx.3_Missense_Mutation_p.L98V|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	98	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTATAAATAAGTTTGGAATCA	0.408000													38	79					0	0	0.834066	0	0
MARCO	8685	broad.mit.edu	37	2	119739756	119739756	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:119739756C>T	uc002tln.1	+	10	1058	c.926C>T	c.(925-927)cCg>cTg	p.P309L	MARCO_uc010yyf.1_Missense_Mutation_p.P231L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	309	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGTGTTCCGGGCCCTCCT	0.642000													15	25					0	0	0.500413	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:75475709T>C	uc003dpp.4	-	6	888	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.I85V|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562000													3	32					0	0	0.115264	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144389	5144389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:5144389C>T	uc001ihr.3	+	5	850	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C3_uc021pml.1_Nonsense_Mutation_p.R223*|AKR1C3_uc010qap.2_Nonsense_Mutation_p.R200*|AKR1C3_uc001ihu.3_Nonsense_Mutation_p.R223*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	223					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGGATCTCAACGAGACAAACG	0.383000													18	58					0	0	0.520397	0	0
KTN1	3895	broad.mit.edu	37	14	56079020	56079020	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:56079020A>G	uc001xcb.3	+	2	556	c.254A>G	c.(253-255)aAa>aGa	p.K85R	KTN1_uc001xcc.3_Missense_Mutation_p.K85R|KTN1_uc001xcd.3_Missense_Mutation_p.K85R|KTN1_uc001xce.3_Missense_Mutation_p.K85R|KTN1_uc010trb.2_Missense_Mutation_p.K85R|KTN1_uc001xcf.1_Missense_Mutation_p.K85R	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	85					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CGAGACTTTAAATTATCAGAT	0.358000			T	RET	papillary thryoid								3	90					0	0	0.150653	0	0
FUCA2	2519	broad.mit.edu	37	6	143823182	143823182	+	Silent	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:143823182T>C	uc003qjm.3	-	4	1290	c.1041A>G	c.(1039-1041)gtA>gtG	p.V347V	FUCA2_uc003qjn.3_Silent_p.V101V	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	Homo sapiens fucosidase, alpha-L- 2, plasma (FUCA2), mRNA.	347					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCTCAAAAACTACAGAAATGG	0.408000													23	30					0	0	0.654019	0	0
CCR10	2826	broad.mit.edu	37	17	40832563	40832563	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:40832563T>C	uc002iax.4	-	1	101	c.97A>G	c.(97-99)Aag>Gag	p.K33E	CNTNAP1_uc002iay.3_5'Flank|CNTNAP1_uc010wgs.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	33						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACATCGGCCTTGTAGCAAAGC	0.637000													8	28					0	0	0.278610	0	0
RAB2A	5862	broad.mit.edu	37	8	61484623	61484623	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:61484623G>A	uc003xud.2	+	2	435	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RAB2A_uc011lef.2_Missense_Mutation_p.R22Q	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	46					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TTCGGTGCTCGAATGATAACT	0.323000													9	32					0	0	0.387290	0	0
KIAA1217	56243	broad.mit.edu	37	10	24825812	24825812	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24825812A>T	uc001iru.4	+	16	3927	c.3524A>T	c.(3523-3525)aAg>aTg	p.K1175M	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Missense_Mutation_p.K1139M|KIAA1217_uc010qcz.2_Missense_Mutation_p.K1140M|KIAA1217_uc001irw.3_Missense_Mutation_p.K858M|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.K858M|KIAA1217_uc001iry.3_Missense_Mutation_p.K858M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1175					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGCCACCCAAGGAGAAGAAG	0.507000													6	60					0	0	0.248553	0	0
CLCN7	1186	broad.mit.edu	37	16	1510460	1510460	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:1510460C>T	uc002clv.2	-	5	663	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	CLCN7_uc002clw.2_Missense_Mutation_p.A161T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	185						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCACGAAGGCGGCGTTCAGC	0.597000													29	54					0	0	0.750413	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													3	12					0	0	0.115264	0	0
BCAS3	54828	broad.mit.edu	37	17	58967054	58967054	+	Splice_Site	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:58967054A>G	uc002iyv.4	+	10	771	c.662_splice	c.e10-2	p.S221_splice	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Splice_Site_p.S221_splice|BCAS3_uc002iyw.4_Splice_Site_p.S217_splice|BCAS3_uc002iyx.1_Splice_Site_p.G36_splice|BCAS3_uc002iyy.4_Splice_Site	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	221						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398000													3	71					0	0	0.115264	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								15	59					0	0	0.500413	0	0
RBM14	10432	broad.mit.edu	37	11	66392068	66392068	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr11:66392068C>T	uc001oit.3	+	1	860	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_5'Flank	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	241	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGGCCCAGCCGTCCGTGTC	0.652000													3	51					0	0	0.115264	0	0
ALMS1	7840	broad.mit.edu	37	2	73836722	73836722	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:73836722A>G	uc002sje.1	+	22	12598	c.12487A>G	c.(12487-12489)Aaa>Gaa	p.K4163E	ALMS1_uc002sjf.1_Missense_Mutation_p.K4121E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4163					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGGGGAGAAAAGTTCCCTG	0.433000													11	68					0	0	0.457914	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833960	24833960	+	Silent	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24833960C>T	uc001iru.4	+	19	5665	c.5262C>T	c.(5260-5262)gcC>gcT	p.A1754A	KIAA1217_uc001irs.3_Silent_p.A1075A|KIAA1217_uc001irt.4_Silent_p.A1120A|KIAA1217_uc010qcy.2_Silent_p.A1185A|KIAA1217_uc010qcz.2_Silent_p.A1160A|KIAA1217_uc001irw.3_Silent_p.A904A|KIAA1217_uc001irz.3_Silent_p.A838A|KIAA1217_uc001irx.3_Silent_p.A1437A|KIAA1217_uc001iry.3_Silent_p.A878A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1754					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGAGTGCCAAGAACAGAC	0.572000													8	116					0	0	0.278610	0	0
POTEG	404785	broad.mit.edu	37	14	19553812	19553812	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:19553812G>A	uc001vuz.1	+	0	448	c.396G>A	c.(394-396)agG>agA	p.R132R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	132										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGCCGAGGTACCACGTCC	0.592000													18	389					0	0	0.681144	0	0
CDH15	1013	broad.mit.edu	37	16	89261356	89261356	+	Silent	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:89261356G>A	uc002fmt.3	+	13	2315	c.2238G>A	c.(2236-2238)gcG>gcA	p.A746A		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCTCGGTGGCGGGGACGCTGA	0.632000													5	15					0	0	0.307466	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:195698262C>G	uc003fvx.3	-	10		c.1611G>C			SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AATTTGTCAACATTCGTGACA	0.418000													3	67					0	0	0.248553	0	0
OBSCN	84033	broad.mit.edu	37	1	228529314	228529314	+	Splice_Site	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:228529314G>A	uc009xez.1	+	74	18078	c.18034_splice	c.e74+1	p.R6012_splice	OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6012					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCTGTGTGGCGTGAGTGTC	0.672000													5	18					0	0	0.217242	0	0
LTBP2	4053	broad.mit.edu	37	14	75017767	75017767	+	Splice_Site	SNP	C	C	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:75017767C>A	uc001xqa.3	-	7	2073	c.1686_splice	c.e7+1	p.Q562_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	562	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGTTCTCACCTGTCCGTTCA	0.612000													3	44					0.115264	0.120275	0.115264	1	0
UQCRH	7388	broad.mit.edu	37	1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:46775912G>A	uc001cpp.3	+	2	226	c.167G>A	c.(166-168)cGt>cAt	p.R56H	UQCRH_uc001cpq.3_Non-coding_Transcript	NM_006004	NP_005995	P07919	QCR6_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase hinge protein (UQCRH), nuclear gene encoding mitochondrial protein, mRNA.	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512000													5	48					0	0	0.248553	0	0
KLC1	3831	broad.mit.edu	37	14	104143843	104143843	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:104143843A>G	uc001yno.3	+	11	1779	c.1471A>G	c.(1471-1473)Atg>Gtg	p.M491V	KLC1_uc010tyd.1_Missense_Mutation_p.M650V|KLC1_uc010tye.1_Missense_Mutation_p.M487V|KLC1_uc001ynm.1_Missense_Mutation_p.M491V|KLC1_uc010tyf.2_Missense_Mutation_p.M491V|KLC1_uc021seh.1_Non-coding_Transcript|KLC1_uc001ynr.1_Missense_Mutation_p.M1V|KLC1_uc010awu.1_Non-coding_Transcript|KLC1_uc001ynq.1_Missense_Mutation_p.M1V|KLC1_uc001ynp.1_Non-coding_Transcript|KLC1_uc001yns.3_Non-coding_Transcript	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	491					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAAGCTGCTATGAGGTCTCG	0.398000													21	45					0	0	0.608945	0	0
HCLS1	3059	broad.mit.edu	37	3	121351926	121351926	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:121351926C>A	uc003eeh.4	-	10	1121	c.996G>T	c.(994-996)caG>caT	p.Q332H	HCLS1_uc011bjj.2_Missense_Mutation_p.Q295H|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	332					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCGGGAGAGTCTGCCTAATGG	0.587000													6	19					8.12818e-05	8.67006e-05	0.248553	1	0
NRCAM	4897	broad.mit.edu	37	7	107808830	107808830	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:107808830T>C	uc022aka.1	-	25	3311	c.3205A>G	c.(3205-3207)Agg>Ggg	p.R1069G	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1069	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTGCTGATCCTGGGATTTACT	0.353000													6	27					0	0	0.217242	0	0
FAM5B	57795	broad.mit.edu	37	1	177247827	177247827	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:177247827G>A	uc001glf.3	+	6	1453	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	FAM5B_uc010pna.1_Missense_Mutation_p.V131M|FAM5B_uc001glg.3_Missense_Mutation_p.V276M	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	381						extracellular region		p.V381M(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGCTTGAAAGTGCTGTTCAA	0.607000													46	95					0	0	0.864702	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000													3	53					0	0	0.184627	0	0
SPANXE	171489	broad.mit.edu	37	X	140785767	140785767	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chrX:140785767A>G	uc004fbq.3	-	1	242	c.149T>C	c.(148-150)aTa>aCa	p.I50T		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	50						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					AACCACTAGTATGGTCGAGGA	0.498000													78	46					0	0	0.870114	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956005	50956005	+	Splice_Site	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr22:50956005G>A	uc003blx.4	+	4	389	c.267_splice	c.e4-1	p.R89_splice	NCAPH2_uc003blq.4_Splice_Site_p.R89_splice|NCAPH2_uc003blv.3_Splice_Site_p.R89_splice|NCAPH2_uc003blr.4_Splice_Site_p.R89_splice	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	89					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTCTCTCAGGCGGGCCAAG	0.632000													30	63					0	0	0.717897	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232607260	232607260	+	Silent	SNP	C	C	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:232607260C>T	uc001hvg.3	-	5	2258	c.2100G>A	c.(2098-2100)agG>agA	p.R700R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCTATGTGCCTTTTCCTCA	0.383000													26	66					0	0	0.681144	0	0
LRP1	4035	broad.mit.edu	37	12	57588464	57588464	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:57588464G>A	uc001snd.3	+	49	8639	c.8173G>A	c.(8173-8175)Gag>Aag	p.E2725K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2725	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAACATGGCGAGGACGAGAC	0.597000													13	42					0	0	0.435327	0	0
WDR33	55339	broad.mit.edu	37	2	128463958	128463961	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:128463958_128463961delCTCC	uc002tpg.2	-	21	4146_4149	c.3947_3950delGGAG	c.(3946-3951)gggagtfs	p.G1316fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTTCATGTTACTCCCTCTACCCCA	0.613													11	187	---	---	---	---					
CLK1	1195	broad.mit.edu	37	2	201726490	201726493	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:201726490_201726493delCTTC	uc002uwe.2	-	1	274_277	c.93_96delGAAG	c.(91-96)aggaagfs	p.R31fs	CLK1_uc010zhi.1_Frame_Shift_Del_p.R73fs|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	31					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATGTGATCTCTTCCTTCTTTTAT	0.397													45	166	---	---	---	---					
RBPJ	3516	broad.mit.edu	37	4	26426086	26426088	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:26426086_26426088delTTT	uc003grx.2	+	6	894_896	c.658_660delTTT	c.(658-660)tttdel	p.F221del	RBPJ_uc003gry.2_In_Frame_Del_p.F206del|RBPJ_uc003grz.2_In_Frame_Del_p.F221del|RBPJ_uc011bxt.2_In_Frame_Del_p.F221del|RBPJ_uc003gsa.2_In_Frame_Del_p.F207del|RBPJ_uc003gsb.2_In_Frame_Del_p.F208del	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCATC	0.360													28	79	---	---	---	---					
MRPS18B	28973	broad.mit.edu	37	6	30587286	30587287	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:30587286_30587287delTT	uc003nqo.2	+	1	252_253	c.95_96delTT	c.(94-96)cttfs	p.L32fs	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Frame_Shift_Del_p.L32fs	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA.	32					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGACTCTTTGCACCAAAG	0.401													13	81	---	---	---	---					
ARL4A	10124	broad.mit.edu	37	7	12728267	12728268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:12728267_12728268insT	uc003ssp.3	+	1	694_695	c.388_389insT	c.(388-390)cttfs	p.L130fs	ARL4A_uc003ssq.3_Frame_Shift_Ins_p.L130fs|ARL4A_uc021zzq.1_Frame_Shift_Ins_p.L130fs|ARL4A_uc003sss.3_Frame_Shift_Ins_p.L130fs|ARL4A_uc021zzr.1_Frame_Shift_Ins_p.L130fs	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	130					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCCCTGTACTTATAGTTGCT	0.381													8	82	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131189169	131189171	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:131189169_131189171delCTT	uc003vqw.4	-	8	1834_1836	c.1576_1578delAAG	c.(1576-1578)aagdel	p.K526del	PODXL_uc003vqx.4_In_Frame_Del_p.K494del	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	526					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGCTGACCACCTTCTTCTCCTGC	0.557													13	129	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77776374	77776377	+	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs76951673		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:77776374_77776377delCAAT	uc003yau.2	+	10	10811_10814	c.10424_10427delCAAT	c.(10423-10428)acaatcfs	p.T3475fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3426	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGAGAAAACAATCAAACAAGCA	0.456										HNSCC(33;0.089)			22	45	---	---	---	---					
RBM12B	389677	broad.mit.edu	37	8	94745644	94745648	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:94745644_94745648delTTAAC	uc022aye.1	-	0	2991_2995	c.2991_2995delGTTAA	c.(2989-2997)aagttaactfs	p.K997fs	RBM12B_uc003yfz.3_Frame_Shift_Del_p.K997fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	997	RRM 4.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGCAAAGTTAACTTAACTTTTC	0.332													19	47	---	---	---	---					
MELK	9833	broad.mit.edu	37	9	36607659	36607661	+	In_Frame_Del	DEL	AAG	AAG	-	rs35142210	byFrequency	TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr9:36607659_36607661delAAG	uc003zzn.3	+	7	793_795	c.655_657delAAG	c.(655-657)aagdel	p.K220del	MELK_uc022bgq.1_Non-coding_Transcript|MELK_uc011lpm.2_In_Frame_Del_p.K89del|MELK_uc011lpn.2_In_Frame_Del_p.K220del|MELK_uc011lpo.2_In_Frame_Del_p.K26del|MELK_uc010mll.3_In_Frame_Del_p.K188del|MELK_uc011lpp.2_In_Frame_Del_p.K172del|MELK_uc010mlm.3_In_Frame_Del_p.K149del|MELK_uc011lpr.2_In_Frame_Del_p.K149del|MELK_uc011lpq.2_In_Frame_Del_p.K26del|MELK_uc011lps.2_In_Frame_Del_p.K140del	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	220	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGCTTTATACAAGAAGATTATGG	0.330													7	143	---	---	---	---					
PAN2	9924	broad.mit.edu	37	12	56721813	56721813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:56721813delT	uc001skx.3	-	4	994	c.617delA	c.(616-618)aatfs	p.N206fs	PAN2_uc001sky.3_Frame_Shift_Del_p.N206fs|PAN2_uc001skz.3_Frame_Shift_Del_p.N206fs	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	206					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAAGAAGCGATTTGTCTGTCT	0.512													8	39	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094692	72094694	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:72094692_72094694delAAC	uc001sws.3	+	5	1511_1513	c.928_930delAAC	c.(928-930)aacdel	p.N311del		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	311						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CATTCTTGATAACAACGCAGTGA	0.463													11	329	---	---	---	---					
C12orf65	91574	broad.mit.edu	37	12	123738357	123738359	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:123738357_123738359delAAG	uc001uen.3	+	1	399_401	c.136_138delAAG	c.(136-138)aagdel	p.K47del	C12orf65_uc001ueo.3_Non-coding_Transcript|C12orf65_uc021rft.1_In_Frame_Del_p.K47del|C12orf65_uc010tan.2_In_Frame_Del_p.K47del	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	Homo sapiens chromosome 12 open reading frame 65 (C12orf65), transcript variant 1, mRNA.	47						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GATGGCAGGCAAGAAGGACTACC	0.557													10	51	---	---	---	---					
UBL3	5412	broad.mit.edu	37	13	30341404	30341406	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr13:30341404_30341406delACA	uc001usp.3	-	4	1485_1487	c.340_342delTGT	c.(340-342)tgtdel	p.C114del		NM_007106	NP_009037	O95164	UBL3_HUMAN	Homo sapiens ubiquitin-like 3 (UBL3), mRNA.	114						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGATTACACAACAATTACTC	0.433													12	38	---	---	---	---					
TINF2	26277	broad.mit.edu	37	14	24709491	24709493	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:24709491_24709493delTAA	uc001woa.4	-	6	1447_1449	c.1105_1107delTTA	c.(1105-1107)ttadel	p.L369del	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_In_Frame_Del_p.L334del|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	369					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCCTAGGAGGTAATAATGATAGT	0.498									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				19	81	---	---	---	---					
PRR25	388199	broad.mit.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs113623365		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:863356_863372delGGACGCCGGACCGACAC	uc010uut.2	+	2	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)aggacgccggaccgacacfs	p.R235fs		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714													3	5	---	---	---	---					
PAF1	54623	broad.mit.edu	37	19	39879756	39879758	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:39879756_39879758delTCT	uc002old.3	-	6	717_719	c.542_544delAGA	c.(541-546)aagact>act	p.K181del	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_In_Frame_Del_p.K171del|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	181					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAAAGTCTTCTCAATGGC	0.483													30	105	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:42797980_42797981delTG	uc002otf.1	+	15	4072_4073	c.4032_4033delTG	c.(4030-4035)tctgtgfs	p.S1344fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"""Mis, F, S"""		oligodendroglioma								32	36	---	---	---	---					
