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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PPP1R15A	23645	broad.mit.edu	37	19	49379135	49379135	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:49379135G>A	uc002pky.4	+	2	2199	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	644					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TTCGTCCCCAGTCCAGACCAC	0.672000														158			73		0	0	0.048971	0	0
KDM6B	23135	broad.mit.edu	37	17	7755372	7755372	+	Silent	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:7755372T>G	uc002gix.3	+	7	3012	c.2175T>G	c.(2173-2175)gcT>gcG	p.A725A	KDM6B_uc002giw.1_Silent_p.A1423A	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1423	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCATCAGCGCTTTCTGTGATC	0.632000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			16		0	0	0.033300	0	0
YTHDC1	91746	broad.mit.edu	37	4	69185877	69185877	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:69185877T>C	uc003hdx.3	-	11	2001	c.1648A>G	c.(1648-1650)Agg>Ggg	p.R550G	YTHDC1_uc003hdy.3_Missense_Mutation_p.R532G	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	550	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TAGTCAATCCTTGGTTTCTTT	0.323000														48			21		0	0	0.076483	0	0
ZNF773	374928	broad.mit.edu	37	19	58018434	58018434	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:58018434T>C	uc002qox.3	+	3	1111	c.971T>C	c.(970-972)gTt>gCt	p.V324A	ZNF773_uc002qoy.3_Missense_Mutation_p.V323A|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CATCAGAGAGTTCACACTGGA	0.428000														128			46		0	0	0.111260	0	0
DMBT1	1755	broad.mit.edu	37	10	124351862	124351862	+	Silent	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr10:124351862C>A	uc001lgk.1	+	19	2357	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	DMBT1_uc001lgl.1_Silent_p.R741R|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Silent_p.R751R|DMBT1_uc021qag.1_Silent_p.R741R|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Silent_p.R751R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.R364R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	751	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R751R(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCCTATACCGAGGCTCCTG	0.582000														257			124		2.06061e-42	2.64296e-42	0.048971	1	0
FZD10	11211	broad.mit.edu	37	12	130648407	130648407	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:130648407C>A	uc001uii.3	+	0	1404	c.920C>A	c.(919-921)aCc>aAc	p.T307N	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	307					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGGAGAGCACCGGCTGCACG	0.667000														50			24		1.85244e-09	2.06215e-09	0.083992	1	0
INPP4B	8821	broad.mit.edu	37	4	143181690	143181690	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:143181690G>T	uc003iix.4	-	11	1238	c.643C>A	c.(643-645)Ccg>Acg	p.P215T	INPP4B_uc003iiw.4_Missense_Mutation_p.P215T|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.P30T|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.P86T	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	215					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.P215S(4)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTTTCCGGGGCTGTACAT	0.279000														30			13		1.49906e-05	1.56539e-05	0.020292	1	0
PLB1	151056	broad.mit.edu	37	2	28847964	28847964	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:28847964A>C	uc002rmb.2	+	49	3612	c.3568A>C	c.(3568-3570)Aaa>Caa	p.K1190Q	PLB1_uc010ezj.2_Missense_Mutation_p.K1179Q|PLB1_uc002rme.2_Missense_Mutation_p.K155Q	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1190	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGAGCGAATGAAAAACAGCCC	0.642000														75			34		0	0	0.064281	0	0
SON	6651	broad.mit.edu	37	21	34925625	34925625	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr21:34925625C>T	uc002yse.1	+	2	4137	c.4088C>T	c.(4087-4089)tCg>tTg	p.S1363L	SON_uc002ysb.1_Missense_Mutation_p.S1363L|SON_uc002ysc.3_Missense_Mutation_p.S1363L|SON_uc002ysd.3_Missense_Mutation_p.S354L|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S1009L|SON_uc002ysg.3_Missense_Mutation_p.S354L	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1363	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTGGAGTCTTCGGCTGTGACC	0.577000														39			15		0	0	0.024245	0	0
KLHL3	26249	broad.mit.edu	37	5	136975648	136975648	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:136975648C>T	uc010jek.3	-	8	1366	c.922G>A	c.(922-924)Ggc>Agc	p.G308S	KLHL3_uc011cyc.2_Missense_Mutation_p.G77S|KLHL3_uc003lbr.4_Missense_Mutation_p.G226S|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.G77S|KLHL3_uc010jem.1_Missense_Mutation_p.G268S	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	308						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGTGCCTGGCCGCCAACCACA	0.542000														62			19		0	0	0.043863	0	0
SORBS2	8470	broad.mit.edu	37	4	186545114	186545114	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:186545114T>G	uc003iyg.3	-	12	1831	c.1799A>C	c.(1798-1800)cAc>cCc	p.H600P	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.H586P|SORBS2_uc003iyl.3_Missense_Mutation_p.H486P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.H390P|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	486						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGGTCCTTGTGCTGCTGCTC	0.582000														57			37		0	0	0.098360	0	0
SYNE2	23224	broad.mit.edu	37	14	64669634	64669634	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr14:64669634G>C	uc001xgl.3	+	99	18384	c.18154G>C	c.(18154-18156)Gat>Cat	p.D6052H	SYNE2_uc001xgm.3_Missense_Mutation_p.D6052H|SYNE2_uc010apy.3_Missense_Mutation_p.D2437H|SYNE2_uc001xgn.3_Missense_Mutation_p.D1014H|SYNE2_uc021rui.1_Missense_Mutation_p.D1059H|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.D22H|SYNE2_uc001xgq.3_Missense_Mutation_p.D417H	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6052					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTGTTTATGATGTCTGCGA	0.488000														62			3		0	0	0.009096	0	0
MMEL1	79258	broad.mit.edu	37	1	2540842	2540842	+	Silent	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:2540842C>T	uc001ajy.2	-	5	685	c.471G>A	c.(469-471)tcG>tcA	p.S157S	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	157					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTTGGCAGTCGAATTCTCCA	0.657000														14			3		0	0	0.004672	0	0
PSMA7	5688	broad.mit.edu	37	20	60714841	60714841	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:60714841T>G	uc002ybx.1	-	2	459	c.344A>C	c.(343-345)aAg>aCg	p.K115T		NM_002792	NP_002783	O14818	PSA7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 7 (PSMA7), mRNA.	115					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			ACCCACCTGCTTCAGACTGGC	0.617000														30			14		0	0	0.043863	0	0
ADAM7	8756	broad.mit.edu	37	8	24357760	24357760	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:24357760C>A	uc003xeb.3	+	17	2106	c.1993C>A	c.(1993-1995)Cat>Aat	p.H665N	ADAM7_uc003xec.3_Missense_Mutation_p.H437N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	665	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAAACCTTACATGTTACCAG	0.413000														34			18		4.26978e-12	4.84455e-12	0.083992	1	0
DNTTIP1	116092	broad.mit.edu	37	20	44424050	44424050	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:44424050A>G	uc002xpk.3	+	3	408	c.340A>G	c.(340-342)Atc>Gtc	p.I114V		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	114						nucleus		p.L113L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGAGCAGCTGATCCAGGAAGC	0.557000														8			7		0	0	0.029380	0	0
WNK1	65125	broad.mit.edu	37	12	977170	977170	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:977170C>T	uc021qss.1	+	8	2921	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.R845C|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.R59C	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	763					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCCAGCGGCGTAAGAGCAC	0.512000														117			5		0	0	0.029380	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322884	17322884	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:17322884G>T	uc001baa.2	-	12	1493	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	ATP13A2_uc001bac.2_Missense_Mutation_p.L430M|ATP13A2_uc001bab.2_Missense_Mutation_p.L430M|ATP13A2_uc009vpa.1_Intron|ATP13A2_uc001bad.1_Missense_Mutation_p.L148M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	435					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CACTCACCCAGGACAGAGAGG	0.612000														44			32		2.49534e-26	3.13245e-26	0.045705	1	0
SETD2	29072	broad.mit.edu	37	3	47143047	47143047	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:47143047T>C	uc003cqv.3	-	9	5205	c.5119_splice	c.e9-1	p.W1707_splice	SETD2_uc003cqs.3_Splice_Site_p.W1640_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACAGTCCACTGAGATGATGT	0.408000			"""N, F, S, Mis"""		clear cell renal carcinoma									33			95		0	0	0.048971	0	0
ZNF778	197320	broad.mit.edu	37	16	89294017	89294017	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:89294017C>T	uc021tms.1	+	6	1660	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ZNF778_uc010vpg.2_Nonsense_Mutation_p.R176*|ZNF778_uc002fmv.3_Nonsense_Mutation_p.R413*|ZNF778_uc002fmw.2_Nonsense_Mutation_p.R371*	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TAGACACGTACGAACACACAC	0.498000														50			21		0	0	0.055883	0	0
FOXD1	2297	broad.mit.edu	37	5	72743507	72743507	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:72743507G>A	uc003kcp.3	-	0	846	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	Homo sapiens forkhead box D1 (FOXD1), mRNA.	227					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgttgggtgggagcagcggcT	0.751000														16			3		0	0	0.009096	0	0
FCER1G	2207	broad.mit.edu	37	1	161185157	161185157	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:161185157G>T	uc001fza.1	+	0	71	c.46G>T	c.(46-48)Gca>Tca	p.A16S	FCER1G_uc001fyz.1_Missense_Mutation_p.A16S	NM_004106	NP_004097	P30273	FCERG_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide (FCER1G), mRNA.	16					platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	GGTTGAACAAGCAGGTAAGAG	0.552000														76			37		4.92203e-23	6.11367e-23	0.086207	1	0
PLCB1	23236	broad.mit.edu	37	20	8741054	8741054	+	Splice_Site	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:8741054G>T	uc002wnb.3	+	25	2660	c.2657_splice	c.e25-1	p.G886_splice	PLCB1_uc010zrb.1_Splice_Site_p.G785_splice|PLCB1_uc002wna.3_Splice_Site_p.G886_splice|PLCB1_uc002wnc.1_Splice_Site_p.G785_splice|PLCB1_uc002wnd.1_Splice_Site_p.G463_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	886					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATATTACAGGTTCTGTAAAG	0.348000														37			18		6.49762e-13	7.66719e-13	0.038395	1	0
PRSS21	10942	broad.mit.edu	37	16	2868724	2868724	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:2868724C>G	uc002crt.3	+	3	410	c.304C>G	c.(304-306)Cag>Gag	p.Q102E	PRSS21_uc002crr.3_Missense_Mutation_p.Q102E|PRSS21_uc002crs.3_Missense_Mutation_p.Q100E	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	102	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CCAGTTTGGCCAGCTGACTTC	0.562000														126			30		0	0	0.041601	0	0
CSMD1	64478	broad.mit.edu	37	8	3216707	3216707	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:3216707G>A	uc022aqr.1	-	20	3661	c.3271C>T	c.(3271-3273)Cgt>Tgt	p.R1091C	CSMD1_uc011kwj.2_Missense_Mutation_p.R484C|CSMD1_uc003wqe.3_Missense_Mutation_p.R248C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1092	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCCACACACGGCGGCCCCCA	0.557000														65			28		0	0	0.041601	0	0
NBEAL2	23218	broad.mit.edu	37	3	47032943	47032943	+	Silent	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:47032943G>T	uc003cqp.3	+	7	869	c.690G>T	c.(688-690)ctG>ctT	p.L230L	NBEAL2_uc003cqq.1_Silent_p.L223L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	230							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGGGCCTGCTGAGTGTGGTGC	0.637000														6			19		1.56452e-12	1.80994e-12	0.043863	1	0
BC080605	0	broad.mit.edu	37	9	68413602	68413602	+	RNA	SNP	A	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:68413602A>G	uc004aex.3	+	0		c.157A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCTTTTGCTGAAACTCTGGGG	0.602000														12			3		0	0	0.004672	0	0
SYN2	6854	broad.mit.edu	37	3	12192767	12192767	+	Silent	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:12192767C>T	uc003bwm.3	+	7	867	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	SYN2_uc003bwl.1_Silent_p.L235L|SYN2_uc003bwn.3_5'UTR	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	239					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTATAAGACACTGGGAGGAGA	0.418000														3			5		0	0	0.014758	0	0
USP31	57478	broad.mit.edu	37	16	23083424	23083424	+	Silent	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:23083424G>T	uc002dll.3	-	14	2430	c.2430C>A	c.(2428-2430)acC>acA	p.T810T	USP31_uc002dlk.3_Silent_p.T82T|USP31_uc010vca.2_Silent_p.T113T|USP31_uc010bxm.3_Silent_p.T98T	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	810	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACGCCAGGGAGGTGCGTCTGG	0.577000														183			16		6.49762e-13	7.66719e-13	0.038395	1	0
ZNF502	91392	broad.mit.edu	37	3	44763320	44763320	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:44763320C>G	uc011baa.2	+	3	1266	c.1011C>G	c.(1009-1011)aaC>aaG	p.N337K	ZNF502_uc003cns.3_Missense_Mutation_p.N337K|ZNF502_uc011bab.2_Missense_Mutation_p.N337K|ZNF502_uc003cnt.3_Missense_Mutation_p.N337K	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CAAAGGCAAACCTCTCTCAGC	0.403000														34			70		0	0	0.048971	0	0
ARID5B	84159	broad.mit.edu	37	10	63699986	63699986	+	Silent	SNP	A	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr10:63699986A>G	uc001jlt.2	+	2	777	c.321A>G	c.(319-321)gaA>gaG	p.E107E	ARID5B_uc010qil.2_Silent_p.E107E	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	107					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGAAGCTTGAAGACCTGGTCA	0.453000														60			31		0	0	0.064281	0	0
MCTP2	55784	broad.mit.edu	37	15	94884070	94884070	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr15:94884070G>T	uc002btj.3	+	5	951	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	MCTP2_uc010urg.1_Missense_Mutation_p.D296Y|MCTP2_uc002bti.2_Missense_Mutation_p.D296Y|MCTP2_uc010boj.3_Missense_Mutation_p.D25Y|MCTP2_uc010bok.3_Missense_Mutation_p.D296Y|MCTP2_uc002btg.4_Missense_Mutation_p.D296Y|MCTP2_uc002bth.4_Missense_Mutation_p.D296Y	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	296					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAACTGGAAGATCCAAACAG	0.388000														27			23		9.95505e-16	1.19867e-15	0.069288	1	0
MRPL9	65005	broad.mit.edu	37	1	151735832	151735832	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:151735832C>T	uc001eyv.3	-	0	209	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MRPL9_uc009wmz.3_Non-coding_Transcript|MRPL9_uc010pdk.1_Missense_Mutation_p.A42T|MRPL9_uc009wna.1_Missense_Mutation_p.A42T|OAZ3_uc010pdl.2_Intron	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	42					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTTGCAGGCCAGGTCAGGG	0.647000														4			3		0	0	0.004672	0	0
AGXT	189	broad.mit.edu	37	2	241808770	241808770	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:241808770G>A	uc002waa.4	+	1	470	c.349G>A	c.(349-351)Gag>Aag	p.E117K	AGXT_uc010zoi.1_Missense_Mutation_p.E117K	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	117					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGACATCGGGGAGCGCATAGG	0.657000														40			28		0	0	0.034045	0	0
PKHD1	5314	broad.mit.edu	37	6	51882414	51882414	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:51882414G>A	uc003pah.1	-	33	5670	c.5394C>T	c.(5392-5394)ttC>ttT	p.F1798F	PKHD1_uc003pai.3_Silent_p.F1798F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1798					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCACACAGGAAGGCCAAGG	0.522000														54			38		0	0	0.080422	0	0
CD81	975	broad.mit.edu	37	11	2417109	2417109	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:2417109G>T	uc001lwf.1	+	5	703	c.470G>T	c.(469-471)tGt>tTt	p.C157F		NM_004356	NP_004347	P60033	CD81_HUMAN	Homo sapiens CD81 molecule (CD81), mRNA.	157					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTTGACTGCTGTGGCTCCAGC	0.602000														35			27		1.17739e-12	1.37557e-12	0.108266	1	0
KPNB1	3837	broad.mit.edu	37	17	45753779	45753779	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:45753779G>T	uc002ilt.1	+	15	2253	c.1917G>T	c.(1915-1917)ttG>ttT	p.L639F	KPNB1_uc010wkw.1_Missense_Mutation_p.L494F|KPNB1_uc010wkx.1_Missense_Mutation_p.L423F	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	639					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TTACAGTGTTGGGTGGTGAAT	0.428000														70			28		3.73148e-12	4.2749e-12	0.034045	1	0
ZNF418	147686	broad.mit.edu	37	19	58437999	58437999	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:58437999T>C	uc002qqs.1	-	3	1842	c.1550A>G	c.(1549-1551)aAg>aGg	p.K517R	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.K432R	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGGAAATGACTTCCCACATTC	0.433000														90			59		0	0	0.048971	0	0
CSPG4	1464	broad.mit.edu	37	15	75981607	75981607	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr15:75981607C>T	uc002baw.3	-	2	1892	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	600	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACGGGGAGGCCAGAGGAGGT	0.672000														23			19		0	0	0.049695	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048530	41048530	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:41048530C>T	uc003jmj.4	-	15	2070	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G82E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	527							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGCACCAGCCCCACGTAACTC	0.448000														24			24		0	0	0.091800	0	0
FAM125B	89853	broad.mit.edu	37	9	129143362	129143362	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:129143362G>C	uc004bqh.2	+	2	310	c.224G>C	c.(223-225)gGt>gCt	p.G75A	FAM125B_uc004bqg.2_Missense_Mutation_p.G75A|FAM125B_uc011lzy.2_Missense_Mutation_p.G60A|FAM125B_uc010mxd.3_Missense_Mutation_p.G68A|FAM125B_uc011lzz.1_Missense_Mutation_p.G68A	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	75	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						ACAGCAGATGGTGTGGATGCT	0.478000														52			24		0	0	0.099896	0	0
FLRT1	23769	broad.mit.edu	37	11	63884401	63884401	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:63884401T>A	uc021qks.1	+	0	662	c.662T>A	c.(661-663)cTc>cAc	p.L221H	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.L221H	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	193					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TTCAAGGGCCTCAACAGCCTG	0.657000														26			10		0	0	0.093190	0	0
TXN	7295	broad.mit.edu	37	9	113013695	113013695	+	Silent	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:113013695T>C	uc004bep.2	-	1	277	c.72A>G	c.(70-72)gtA>gtG	p.V24V	TXN_uc004beq.2_Silent_p.V24V	NM_003329	NP_003320	P10599	THIO_HUMAN	Homo sapiens thioredoxin (TXN), transcript variant 1, mRNA.	24	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AGAAGTCAACTACTACAAGTT	0.363000														27			10		0	0	0.069234	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44627779	44627779	+	Splice_Site	SNP	A	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:44627779A>T	uc002ikn.1	+	10	4708	c.4705_splice	c.e10-2	p.L1569_splice	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Splice_Site_p.L530_splice|LRRC37A2_uc010dax.2_Splice_Site_p.L499_splice	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1569						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTTTTTAGCTCAAAAAA	0.328000														237			7		0	0	0.038395	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567235	140567235	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:140567235C>G	uc003liw.1	+	0	343	c.343C>G	c.(343-345)Cag>Gag	p.Q115E		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	115	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATCCCTTTCAGATTTACCG	0.433000														50			20		0	0	0.091800	0	0
LRWD1	222229	broad.mit.edu	37	7	102110043	102110043	+	Silent	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr7:102110043C>A	uc003uzn.3	+	9	1389	c.1251C>A	c.(1249-1251)atC>atA	p.I417I	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	417					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						ACAAGCGGATCATCCTCTGGG	0.642000														85			24		9.95505e-16	1.19867e-15	0.069288	1	0
ABCA9	10350	broad.mit.edu	37	17	66981100	66981100	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:66981100G>A	uc002jhu.3	-	33	4448	c.4305C>T	c.(4303-4305)atC>atT	p.I1435I	ABCA9_uc010dez.3_Silent_p.I1397I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1435	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTTCCCCAGGATGCTCAGCA	0.597000														122			25		0	0	0.099896	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138200458	138200458	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:138200458C>A	uc003qhr.3	+	6	1942	c.1876C>A	c.(1876-1878)Ctg>Atg	p.L626M	TNFAIP3_uc003qhs.3_Missense_Mutation_p.L626M|TNFAIP3_uc021zfv.1_Missense_Mutation_p.L254M	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	626	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.L626fs*45(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTTGCACACTGTGTTTCAT	0.512000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									19			25		3.01185e-09	3.32148e-09	0.091800	1	0
NELL1	4745	broad.mit.edu	37	11	21581738	21581738	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:21581738T>G	uc009yid.3	+	17	2027	c.1874T>G	c.(1873-1875)aTt>aGt	p.I625S	NELL1_uc010rdp.2_Missense_Mutation_p.I310S|NELL1_uc001mqe.3_Missense_Mutation_p.I597S|NELL1_uc001mqf.3_Missense_Mutation_p.I550S|NELL1_uc010rdo.2_Missense_Mutation_p.I540S|NELL1_uc001mqh.3_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	597	EGF-like 6; calcium-binding (Potential).				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTGCAGACATTGATGAATGT	0.478000														78			51		0	0	0.048971	0	0
FAM13B	51306	broad.mit.edu	37	5	137289855	137289855	+	Splice_Site	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:137289855C>G	uc003lbz.2	-	14	2186	c.1652_splice	c.e14+1	p.R551_splice	FAM13B_uc003lcb.2_Splice_Site_p.R455_splice|FAM13B_uc003lca.2_Splice_Site_p.R551_splice	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	551					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388000														53			13		0	0	0.093190	0	0
STX18	53407	broad.mit.edu	37	4	4436571	4436571	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:4436571C>T	uc003gic.3	-	6	712	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	Homo sapiens syntaxin 18 (STX18), mRNA.	210					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GGTTGTGTTTCAGCCAAAATT	0.353000														48			15		0	0	0.024245	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265787	67265787	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:67265787G>A	uc001olx.3	-	9	1680	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	PITPNM1_uc001olw.3_5'UTR|PITPNM1_uc001oly.3_Silent_p.S497S|PITPNM1_uc001olz.3_Silent_p.S497S	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	497					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.L496R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCTGTAAGGGCTCAGGCTGT	0.657000														13			6		0	0	0.029380	0	0
TBCE	6905	broad.mit.edu	37	1	235599915	235599915	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:235599915A>C	uc010pxr.1	+	11	1231	c.1108A>C	c.(1108-1110)Ata>Cta	p.I370L	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.I319L|TBCE_uc001hxa.1_Missense_Mutation_p.I319L|TBCE_uc001hxb.1_Missense_Mutation_p.I206L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	319	LRRCT.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CGACAATCAGATATCACAAGT	0.428000														103			26		0	0	0.099896	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121991738	121991738	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:121991738C>T	uc002tmx.3	-	11	1220	c.1127G>A	c.(1126-1128)tGt>tAt	p.C376Y	TFCP2L1_uc010flr.3_Missense_Mutation_p.C376Y|TFCP2L1_uc010flq.3_Non-coding_Transcript	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	376					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGCTCCTGACAGACATAAAT	0.532000														52			29		0	0	0.037714	0	0
ZNF597	146434	broad.mit.edu	37	16	3487524	3487524	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:3487524G>C	uc002cvd.3	-	3	359	c.175C>G	c.(175-177)Cct>Gct	p.P59A		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TTAATCTCAGGCTTGCCTTCC	0.413000														48			69		0	0	0.048971	0	0
ADAM7	8756	broad.mit.edu	37	8	24357759	24357759	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:24357759A>C	uc003xeb.3	+	17	2105	c.1992A>C	c.(1990-1992)ttA>ttC	p.L664F	ADAM7_uc003xec.3_Missense_Mutation_p.L436F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	664	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAAACCTTACATGTTACCA	0.413000														34			18		0	0	0.083992	0	0
NUAK1	9891	broad.mit.edu	37	12	106460987	106460987	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:106460987G>T	uc001tlj.1	-	6	2959	c.1579C>A	c.(1579-1581)Cac>Aac	p.H527N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	527							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTGCTGCTGTGTTTCAAGATG	0.627000														54			37		2.95478e-19	3.63191e-19	0.104719	1	0
KCNC2	3747	broad.mit.edu	37	12	75441966	75441966	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:75441966A>C	uc001sxg.1	-	3	2291	c.1747T>G	c.(1747-1749)Tac>Gac	p.Y583D	KCNC2_uc009zry.3_Missense_Mutation_p.Y583D|KCNC2_uc001sxe.3_Missense_Mutation_p.Y583D|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	583					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCACACGTGTAATCACCTGTC	0.463000														145			89		0	0	0.048971	0	0
GABRA1	2554	broad.mit.edu	37	5	161281260	161281260	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr5:161281260G>A	uc010jiw.3	+	3	639	c.171G>A	c.(169-171)ctG>ctA	p.L57L	GABRA1_uc010jix.3_Silent_p.L57L|GABRA1_uc010jiy.3_Silent_p.L57L|GABRA1_uc003lyx.4_Silent_p.L57L|GABRA1_uc010jiz.3_Silent_p.L57L|GABRA1_uc010jja.3_Silent_p.L57L|GABRA1_uc010jjb.3_Silent_p.L57L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	57					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACAATCGCCTGAGACCAGGAT	0.383000														79			16		0	0	0.038395	0	0
ZNF558	148156	broad.mit.edu	37	19	8922351	8922351	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:8922351G>C	uc002mkn.1	-	5	1045	c.815C>G	c.(814-816)gCt>gGt	p.A272G	ZNF558_uc010xkh.1_Missense_Mutation_p.A201G|ZNF558_uc010dwg.1_Missense_Mutation_p.A272G	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TGTGCTGAAAGCTTTTCCACA	0.463000														115			61		0	0	0.048971	0	0
TIGD4	201798	broad.mit.edu	37	4	153691640	153691640	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:153691640C>T	uc003imy.3	-	1	1338	c.517G>A	c.(517-519)Gat>Aat	p.D173N	TIGD4_uc021xtf.1_Missense_Mutation_p.D173N	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	173					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GGATGATAATCATTTAAATAA	0.353000														35			17		0	0	0.028581	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204236626	204236626	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:204236626T>A	uc001hau.3	-	4	574	c.257A>T	c.(256-258)gAt>gTt	p.D86V		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	86	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGGCAGCGATCCACCAGGAC	0.592000														72			31		0	0	0.064281	0	0
CACNA1S	779	broad.mit.edu	37	1	201030589	201030589	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:201030589A>G	uc001gvv.3	-	24	3288	c.3061T>C	c.(3061-3063)Tac>Cac	p.Y1021H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1021	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGGCCTTGTACAGCAGCCTG	0.557000														55			15		0	0	0.024245	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487871	161487871	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:161487871C>A	uc001gan.3	+	6	940	c.887C>A	c.(886-888)cCt>cAt	p.P296H	FCGR2A_uc001gam.3_Missense_Mutation_p.P295H|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	296						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGGGCACCTACTGACGAT	0.443000														42			24		1.80694e-10	2.03066e-10	0.041601	1	0
KIAA1804	84451	broad.mit.edu	37	1	233518317	233518317	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:233518317A>G	uc001hvt.4	+	9	3232	c.2971A>G	c.(2971-2973)Aga>Gga	p.R991G	KIAA1804_uc001hvu.4_Missense_Mutation_p.R437G	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	991					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TGCCAAGGAGAGAACTAAATC	0.557000														86			33		0	0	0.050027	0	0
NPHP3	27031	broad.mit.edu	37	3	132410108	132410108	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:132410108T>C	uc003epe.2	-	17	2602	c.2498A>G	c.(2497-2499)gAg>gGg	p.E833G	NPHP3_uc003epd.2_Missense_Mutation_p.E75G	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	833					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCAGGTACTCCAATCTCAC	0.388000														122			153		0	0	0.048971	0	0
COG8	84342	broad.mit.edu	37	16	69368791	69368791	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:69368791C>G	uc002ewy.2	-	2	1117	c.1046G>C	c.(1045-1047)tGc>tCc	p.C349S		NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	349					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AAAGTACATGCACTGGCCCAG	0.592000														49			28		0	0	0.037714	0	0
NOC2L	26155	broad.mit.edu	37	1	891312	891312	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:891312T>G	uc009vjq.3	-	5	748	c.689A>C	c.(688-690)gAt>gCt	p.D230A	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.D230A	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	230						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTGCTGCTATCCTTTGCCAC	0.562000														4			20		0	0	0.043863	0	0
KCNS1	3787	broad.mit.edu	37	20	43726464	43726464	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:43726464A>T	uc002xnc.3	-	3	1346	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	KCNS1_uc002xnd.3_Missense_Mutation_p.Y317N	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	317						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGCGTGAGATAGAAGGGCAGC	0.632000														9			11		0	0	0.105934	0	0
NUP93	9688	broad.mit.edu	37	16	56792502	56792502	+	Silent	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:56792502T>C	uc002eka.3	+	2	353	c.232T>C	c.(232-234)Ttg>Ctg	p.L78L		NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	78					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCCCAGCGATTGGAGAGTCT	0.512000														53			25		0	0	0.045705	0	0
WFDC2	10406	broad.mit.edu	37	20	44108666	44108666	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:44108666G>A	uc002xoo.3	+	2	336	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	WFDC2_uc002xoq.3_Non-coding_Transcript|WFDC2_uc002xop.3_Missense_Mutation_p.C55Y|WFDC2_uc002xor.3_Missense_Mutation_p.C52Y	NM_006103	NP_006094	Q14508	WFDC2_HUMAN	Homo sapiens WAP four-disulfide core domain 2 (WFDC2), mRNA.	103	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				GACAGCCAGTGTCCTGGCCAG	0.537000														87			61		0	0	0.048971	0	0
IFNA16	3449	broad.mit.edu	37	9	21216839	21216839	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:21216839C>T	uc003zor.1	-	0	472	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TATTTCTTCCCCATCAGATAA	0.443000														512			7		0	0	0.029380	0	0
NAV1	89796	broad.mit.edu	37	1	201781618	201781618	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:201781618G>T	uc021phi.1	+	26	5397	c.5050G>T	c.(5050-5052)Gag>Tag	p.E1684*	NAV1_uc001gwu.3_Nonsense_Mutation_p.E1681*|NAV1_uc001gwx.3_Nonsense_Mutation_p.E1290*	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1684					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAACAACGTGGAGCCAGCCAA	0.562000														75			67		5.29578e-48	6.86705e-48	0.048971	1	0
FAM75D1	389763	broad.mit.edu	37	9	84608073	84608073	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr9:84608073T>G	uc004amn.3	+	3	2735	c.2688T>G	c.(2686-2688)agT>agG	p.S896R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	896						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CCTTCCTTAGTTCCAACAAAC	0.428000														35			25		0	0	0.076483	0	0
ELOVL6	79071	broad.mit.edu	37	4	111119479	111119479	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:111119479C>A	uc003hzz.3	-	1	139	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	ELOVL6_uc003iaa.3_Missense_Mutation_p.V5L	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	5					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AAAGTCAACACTGACATGTTC	0.418000														87			43		7.43668e-06	7.83507e-06	0.098360	1	0
DEF8	54849	broad.mit.edu	37	16	90015887	90015887	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr16:90015887C>A	uc002fpn.2	+	1	147	c.14C>A	c.(13-15)tCc>tAc	p.S5Y	DEF8_uc021tmu.1_5'UTR|DEF8_uc002fpl.3_5'UTR|DEF8_uc002fpm.3_Intron|DEF8_uc002fpo.2_5'UTR|DEF8_uc002fpp.2_5'UTR|DEF8_uc021tmv.1_5'UTR|DEF8_uc010vpq.2_5'UTR|DEF8_uc010vpr.2_5'UTR	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	5					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCCATCCTGTCCCTGCGAGCC	0.672000														42			26		1.04121e-07	1.13762e-07	0.108266	1	0
SORBS2	8470	broad.mit.edu	37	4	186545113	186545113	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr4:186545113G>A	uc003iyg.3	-	12	1832	c.1800C>T	c.(1798-1800)caC>caT	p.H600H	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.H586H|SORBS2_uc003iyl.3_Silent_p.H486H|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.H390H|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	486						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCAGGTCCTTGTGCTGCTGCT	0.582000														59			38		0	0	0.098360	0	0
SCUBE3	222663	broad.mit.edu	37	6	35213120	35213120	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:35213120G>A	uc003okf.1	+	18	2523	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	SCUBE3_uc003okg.1_Silent_p.K838K|SCUBE3_uc003okh.1_Silent_p.K726K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	839	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCCACCCAAGCGCAAGATCC	0.562000														72			34		0	0	0.069456	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	A	A	rs148810844	by1000genomes	TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr19:58352661T>A	uc021vcp.1	+	2	854	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587_uc002qqb.2_Intron|ZNF587B_uc021vcn.1_Missense_Mutation_p.F157I|ZNF587_uc002qqi.2_Intron|ZNF587_uc010yhh.2_Intron|ZNF587_uc021vco.1_Intron|ZNF587_uc002qqj.1_Intron	NM_001204818	NP_001191747	B4DR41	B4DR41_HUMAN	Homo sapiens zinc finger protein (LOC100293516), mRNA.	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000														27			6		0	0	0.029380	0	0
RNF17	56163	broad.mit.edu	37	13	25352542	25352542	+	Silent	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr13:25352542T>C	uc001upr.3	+	3	468	c.427T>C	c.(427-429)Ttg>Ctg	p.L143L	RNF17_uc010tdd.1_Silent_p.L2L|RNF17_uc010tde.2_Silent_p.L143L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.L82L|RNF17_uc001upq.1_Silent_p.L143L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	143					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTGTAATGTTGGTATGAAA	0.383000														110			52		0	0	0.048971	0	0
ABCA10	10349	broad.mit.edu	37	17	67170778	67170778	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:67170778G>T	uc010dfa.1	-	24	3897	c.3018C>A	c.(3016-3018)ttC>ttA	p.F1006L	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1006					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGAAAGCTGGAATCCCAGAA	0.333000														142			63		3.95532e-38	5.01858e-38	0.048971	1	0
MST1P9	11223	broad.mit.edu	37	1	17083787	17083787	+	Silent	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:17083787G>A	uc010ock.2	-	14	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.A270A					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCGTGAAGACGGCTGGCCAGC	0.552000														19			7		0	0	0.020292	0	0
MST1P2	11209	broad.mit.edu	37	1	16974657	16974657	+	RNA	SNP	C	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr1:16974657C>G	uc010och.2	+	6		c.1117C>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CTTTTGCTACCAGATCCGGCG	0.682000														70			6		0	0	0.029380	0	0
STAG2	10735	broad.mit.edu	37	X	123200037	123200037	+	Silent	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chrX:123200037T>C	uc004eua.3	+	21	2513	c.2109T>C	c.(2107-2109)ctT>ctC	p.L703L	STAG2_uc004etz.4_Silent_p.L703L|STAG2_uc004eub.3_Silent_p.L703L|STAG2_uc004euc.3_Silent_p.L703L|STAG2_uc004eud.3_Silent_p.L703L|STAG2_uc004eue.3_Silent_p.L703L	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	703					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCCATGACCTTTCAAAGTGGG	0.294000														21			38		0	0	0.074837	0	0
ERN1	2081	broad.mit.edu	37	17	62121548	62121548	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:62121548G>A	uc002jdz.2	-	21	2847	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	912	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGCAGCTCCCGGTAGTGGTGC	0.552000														33			18		0	0	0.038395	0	0
SLC5A12	159963	broad.mit.edu	37	11	26742996	26742996	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr11:26742996A>T	uc001mra.2	-	0	579	c.266T>A	c.(265-267)cTa>cAa	p.L89Q	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.L89Q	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	89					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GATGACAAATAGGTAAGCAAT	0.468000														33			25		0	0	0.099896	0	0
LRWD1	222229	broad.mit.edu	37	7	102110042	102110042	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr7:102110042T>G	uc003uzn.3	+	9	1388	c.1250T>G	c.(1249-1251)aTc>aGc	p.I417S	MIR4467_uc022ajg.1_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	417					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GACAAGCGGATCATCCTCTGG	0.647000														86			23		0	0	0.062417	0	0
FASN	2194	broad.mit.edu	37	17	80050833	80050833	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr17:80050833G>A	uc002kdu.3	-	5	835	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	240	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACACCCGCCGGGCCAGGGAC	0.682000														15			11		0	0	0.080935	0	0
KDM5A	5927	broad.mit.edu	37	12	472130	472130	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:472130T>C	uc001qif.1	-	5	1035	c.672_splice	c.e5+1	p.Q224_splice	KDM5A_uc010sdn.1_Splice_Site_p.Q183_splice|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	224					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATTGATACCTGAGTCTTCAC	0.453000			T	NUP98	AML									109			3		0	0	0.004672	0	0
PRPF6	24148	broad.mit.edu	37	20	62642772	62642772	+	Silent	SNP	G	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr20:62642772G>C	uc002yho.3	+	10	1608	c.1440G>C	c.(1438-1440)acG>acC	p.T480T	PRPF6_uc002yhp.3_Silent_p.T480T	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	480					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATGGGAACACGCAGATGGTGG	0.587000														28			9		0	0	0.069234	0	0
ENPP1	5167	broad.mit.edu	37	6	132206107	132206107	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:132206107A>C	uc011ecf.2	+	22	2368	c.2348A>C	c.(2347-2349)aAg>aCg	p.K783T		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	783	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CTACTGCGAAAGTATGCTGAA	0.408000														52			32		0	0	0.041601	0	0
TBX3	6926	broad.mit.edu	37	12	115120983	115120983	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr12:115120983G>A	uc001tvt.1	-	0	987	c.23C>T	c.(22-24)cCg>cTg	p.P8L	TBX3_uc001tvu.1_Missense_Mutation_p.P8L|TBX3_uc010syw.1_Missense_Mutation_p.P8L	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	8					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AGGAATGACCGGATCTCTCAT	0.607000											OREG0022153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			3		0	0	0.004672	0	0
CNPPD1	27013	broad.mit.edu	37	2	220039577	220039577	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:220039577T>G	uc002vju.4	-	4	585	c.433A>C	c.(433-435)Aac>Cac	p.N145H	CNPPD1_uc002vjv.3_Missense_Mutation_p.N145H	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	145					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CATTCGTCGTTGAAGACCTCC	0.577000														54			25		0	0	0.099896	0	0
PEX6	5190	broad.mit.edu	37	6	42932546	42932546	+	Missense_Mutation	SNP	C	T	T	rs61753232		TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr6:42932546C>T	uc003otf.3	-	15	2881	c.2788G>A	c.(2788-2790)Gtt>Att	p.V930I	BC040637_uc003ote.1_5'Flank|PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	930					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			AGGTCATGAACCCTGCGTTTG	0.587000														76			41		0	0	0.048971	0	0
PASK	23178	broad.mit.edu	37	2	242065794	242065794	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr2:242065794G>A	uc002wao.2	-	9	2669	c.2536C>T	c.(2536-2538)Cac>Tac	p.H846Y	PASK_uc010zol.2_Missense_Mutation_p.H660Y|PASK_uc010zom.2_Missense_Mutation_p.H811Y|PASK_uc010fzl.2_Missense_Mutation_p.H846Y|PASK_uc010zon.2_Missense_Mutation_p.H627Y|PASK_uc021vzf.1_Missense_Mutation_p.H846Y|PASK_uc002wap.3_Missense_Mutation_p.H389Y|PASK_uc002waq.3_Missense_Mutation_p.H846Y	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	846					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAAGGAACGTGTCCTGGGCTT	0.572000														89			49		0	0	0.048971	0	0
PBRM1	55193	broad.mit.edu	37	3	52696272	52696272	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr3:52696272delT	uc003des.2	-	3	417	c.405delA	c.(403-405)aaafs	p.K135fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.K135fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K135fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K135fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K135fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.K135fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K135fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K135fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K135fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K33fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	135					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.K135fs*11(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGCAAGCGGCTTTATATTCAG	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								---	31	---	---	61	---					
HOXA2	3199	broad.mit.edu	37	7	27140389	27140390	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr7:27140389_27140390insA	uc003syh.3	-	1	1361_1362	c.1086_1087insT	c.(1084-1089)tttacafs	p.F362fs	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	362						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGTGTGTCTGTAAAAAAGTCTA	0.436													---	155	---	---	23	---					
COL14A1	7373	broad.mit.edu	37	8	121219275	121219276	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5890-01A-11D-1589-08	TCGA-BQ-5890-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6938c32-20f1-4d04-9939-0c3d217b7c81	7d6403bb-f48a-43e1-9a32-feb3bb9de789	g.chr8:121219275_121219276insA	uc003yox.3	+	9	1398_1399	c.1133_1134insA	c.(1132-1134)ggafs	p.G378fs	COL14A1_uc003yoy.3_Frame_Shift_Ins_p.G56fs|COL14A1_uc010mde.1_Frame_Shift_Ins_p.G56fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	378	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CATGCCCCAGGAAATGTGGAAA	0.436													---	41	---	---	19	---					
