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
FAM5C	339479	broad.mit.edu	37	1	190195425	190195425	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:190195425A>C	uc001gse.1	-	5	980	c.748T>G	c.(748-750)Tat>Gat	p.Y250D	FAM5C_uc010pot.1_Missense_Mutation_p.Y148D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	250						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCCTGAAGATAGTCTGGGAGA	0.338000														31			5		0	0	1.23904e-05	0	0
DIS3	22894	broad.mit.edu	37	13	73350130	73350130	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr13:73350130C>G	uc001vix.4	-	4	1129	c.755G>C	c.(754-756)aGa>aCa	p.R252T	DIS3_uc001viy.4_Missense_Mutation_p.R222T|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	252					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTGCTAGCTCTAAATGTTCC	0.328000										Multiple Myeloma(4;0.011)				1			19		0	0	0.000295444	0	0
VCX	26609	broad.mit.edu	37	X	7811760	7811760	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrX:7811760C>T	uc004crz.3	+	2	543	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	108	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.A108T(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGGCCGAGCTGGAGG	0.662000														231			8		0	0	3.86212e-05	0	0
AURKAIP1	54998	broad.mit.edu	37	1	1309511	1309511	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:1309511G>A	uc001afb.1	-	1	477	c.367C>T	c.(367-369)Cct>Tct	p.P123S	AURKAIP1_uc001afc.2_Missense_Mutation_p.P123S|AURKAIP1_uc009vkb.1_Missense_Mutation_p.P123S|AURKAIP1_uc001afd.2_Missense_Mutation_p.P123S	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	123					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	p.P123P(1)		kidney(1)|lung(2)	3	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGAATTTGAGGCGCATCCGCG	0.617000														215			42		0	0	0.000374591	0	0
NLRP2	55655	broad.mit.edu	37	19	55495050	55495050	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:55495050C>A	uc021vbq.1	+	5	2095	c.1984C>A	c.(1984-1986)Ctc>Atc	p.L662I	NLRP2_uc010yfp.2_Missense_Mutation_p.L639I|NLRP2_uc002qij.3_Missense_Mutation_p.L662I|NLRP2_uc010esp.3_Missense_Mutation_p.L640I|NLRP2_uc010esn.3_Missense_Mutation_p.L638I|NLRP2_uc010eso.3_Missense_Mutation_p.L659I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	662					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAAGGAGAATCTCCCGGAGAA	0.493000														42			46		8.94452e-30	1.91562e-28	0.000147903	1	0
USP35	57558	broad.mit.edu	37	11	77911752	77911753	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:77911752_77911753GG>TT	uc021qny.1	+	5	1451_1452	c.1095_1096GG>TT	c.(1093-1098)tcgggg>tcTTgg	p.G366W	USP35_uc001oze.2_Missense_Mutation_p.G122W|USP35_uc001ozc.3_Intron|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_5'UTR|USP35_uc001ozf.3_Missense_Mutation_p.G97W	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	366					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTCGAACTCGGGGACCAGCTG	0.644000														900			12		0	0	6.4e-05	0	0
IRF6	3664	broad.mit.edu	37	1	209974733	209974733	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:209974733C>T	uc001hhq.2	-	2	330	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	9					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGGCTTTAGCCGGACTCTGCG	0.597000										HNSCC(57;0.16)				145			18		0	0	0.000132079	0	0
BCMO1	53630	broad.mit.edu	37	16	81320964	81320964	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr16:81320964C>G	uc002fgn.1	+	9	1585	c.1367C>G	c.(1366-1368)gCg>gGg	p.A456G	BCMO1_uc010vnp.1_Missense_Mutation_p.A387G	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	456					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCTGGCCAGCGGAACCCCTG	0.483000														27			19		0	0	0.000229342	0	0
OR1M1	125963	broad.mit.edu	37	19	9204673	9204673	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:9204673C>T	uc010xkj.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTGCTCTCTTCTATGGGACCA	0.572000														174			30		0	0	0.000227799	0	0
TPCN2	219931	broad.mit.edu	37	11	68846030	68846031	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:68846030_68846031GG>TT	uc001oos.2	+	13	1427_1428	c.1311_1312GG>TT	c.(1309-1314)ctgggg>ctTTgg	p.G438W	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Missense_Mutation_p.G353W|TPCN2_uc010rqg.1_Missense_Mutation_p.G438W|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	438					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTGACTACCTGGGGAACCTCAT	0.619000														849			13		0	0	6.4e-05	0	0
OR1M1	125963	broad.mit.edu	37	19	9204196	9204196	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:9204196C>T	uc010xkj.2	+	0	276	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAAGGCCATCTCTTATCCCT	0.522000														62			7		0	0	0.000157383	0	0
LOC440563	440563	broad.mit.edu	37	1	13183492	13183492	+	Silent	SNP	T	C	C	rs138712693	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:13183492T>C	uc010obg.2	-	1	624	c.381A>G	c.(379-381)ccA>ccG	p.P127P		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	127						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GTACACGTGCTGGGAAACTGT	0.522000														132			6		0	0	3.59834e-05	0	0
OR10J1	26476	broad.mit.edu	37	1	159410466	159410466	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:159410466G>T	uc010piv.2	+	0	955	c.918G>T	c.(916-918)gaG>gaT	p.E306D	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	306					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GAAATAAAGAGGTCAAAGATG	0.493000														69			19		6.33239e-15	1.31509e-13	0.000175454	1	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	C	C	rs139671425	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000														24			3		0	0	8.12818e-05	0	0
ANKS6	203286	broad.mit.edu	37	9	101552847	101552847	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:101552847C>G	uc004ayu.3	-	1	422	c.401G>C	c.(400-402)gGg>gCg	p.G134A	ANKS6_uc004ayy.2_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	134										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GACATCAGCCCCGTGATCCAA	0.597000														30			3		0	0	6.4e-05	0	0
KDM8	79831	broad.mit.edu	37	16	27231718	27231718	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr16:27231718T>C	uc010vcn.1	+	6	1230	c.1112T>C	c.(1111-1113)aTg>aCg	p.M371T	KDM8_uc002doh.2_Missense_Mutation_p.M333T|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	333	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										CCCCAGGTGATGGGGAGGAAG	0.622000														212			5		0	0	3.59834e-05	0	0
MCCC2	64087	broad.mit.edu	37	5	70888768	70888768	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:70888768A>G	uc003kbs.4	+	1	283	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	MCCC2_uc010iyv.1_Missense_Mutation_p.M49V|MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	49					leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTACAAGCAGATGAAAGCACT	0.343000														73			13		0	0	0.000308642	0	0
MYT1	4661	broad.mit.edu	37	20	62871203	62871203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr20:62871203G>A	uc002yii.3	+	21	3548	c.3184G>A	c.(3184-3186)Ggc>Agc	p.G1062S	MYT1_uc002yij.3_Missense_Mutation_p.G721S	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1062					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCTGTCCGGCCTGAGCCA	0.592000														135			12		0	0	6.40141e-05	0	0
GRIA1	2890	broad.mit.edu	37	5	153085596	153085596	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:153085596T>G	uc011dcy.2	+	10	1849	c.1822T>G	c.(1822-1824)Ttc>Gtc	p.F608V	GRIA1_uc003lva.4_Missense_Mutation_p.F598V|GRIA1_uc003luy.4_Missense_Mutation_p.F598V|GRIA1_uc003luz.4_Missense_Mutation_p.F503V|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.F518V|GRIA1_uc011dcx.2_Missense_Mutation_p.F529V|GRIA1_uc011dcz.2_Missense_Mutation_p.F608V|GRIA1_uc010jia.1_Missense_Mutation_p.F578V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	598					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTGGGAGCCTTCATGCAGCA	0.453000														48			11		0	0	3.86212e-05	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	C	C	rs61754468	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrX:73811938G>C	uc004ebu.3	-	4	1502	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_uc004ebw.3_Silent_p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(12)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000														41			4		0	0	0.00024832	0	0
HEMGN	55363	broad.mit.edu	37	9	100693159	100693159	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:100693159G>C	uc004axy.3	-	2	626	c.518C>G	c.(517-519)tCt>tGt	p.S173C	HEMGN_uc004axz.3_Missense_Mutation_p.S173C	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	173					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CATTTTAGGAGAGAGGTCTTC	0.373000														172			60		0	0	0.000147903	0	0
CSK	1445	broad.mit.edu	37	15	75093892	75093892	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr15:75093892G>A	uc010bkb.1	+	10	1026	c.843G>A	c.(841-843)agG>agA	p.R281R	CSK_uc002ays.2_Silent_p.R281R|CSK_uc010bkc.1_Silent_p.R90R	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	281	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						TGCGGTCTAGGGGTCGGTCAG	0.632000														79			13		0	0	0.000422831	0	0
FZD4	8322	broad.mit.edu	37	11	86662967	86662968	+	Missense_Mutation	DNP	CC	AA	AA	rs148970041		TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:86662967_86662968CC>AA	uc001pce.3	-	1	1143_1144	c.830_831GG>TT	c.(829-831)cgg>cTT	p.R277L	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	277					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATATCCTTTCCCGGCCTACAGT	0.411000														703			10		0	0	6.4e-05	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														47			4		0	0	0.00024832	0	0
POP1	10940	broad.mit.edu	37	8	99170218	99170218	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr8:99170218G>T	uc003yij.4	+	15	2894	c.2794G>T	c.(2794-2796)Gcg>Tcg	p.A932S	POP1_uc011lgv.2_Missense_Mutation_p.A932S|POP1_uc003yik.3_Missense_Mutation_p.A932S	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	932					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGATGGCCCGGCGGGGGAAGA	0.582000														90			48		4.18559e-23	8.87172e-22	0.000147903	1	0
CCNB3	85417	broad.mit.edu	37	X	50053973	50053973	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrX:50053973A>G	uc004dox.4	+	5	3102	c.2804A>G	c.(2803-2805)gAg>gGg	p.E935G	CCNB3_uc004doy.3_Missense_Mutation_p.E935G|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	935					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.N934H(1)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCTCTGAATGAGAAACCCACC	0.458000														23			18		0	0	0.000229342	0	0
SPEG	10290	broad.mit.edu	37	2	220354563	220354563	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:220354563C>T	uc010fwg.3	+	35	8823	c.8823C>T	c.(8821-8823)tcC>tcT	p.S2941S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2941	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGGTCAGCTCCCCTGGGAGCA	0.662000														34			18		0	0	0.000229342	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162032	12162032	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:12162032G>T	uc003nac.3	+	7	7027	c.6848G>T	c.(6847-6849)aGa>aTa	p.R2283I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2283					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGTGCTGCGAGAGATGAAAAC	0.532000														85			17		2.23348e-06	4.502e-05	0.000422831	1	0
EPS8L1	54869	broad.mit.edu	37	19	55597520	55597520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:55597520G>A	uc002qis.4	+	15	1714	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	EPS8L1_uc010ess.1_Missense_Mutation_p.G551E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G473E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G410E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G215E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G316E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	537	Pro-rich.|SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCTACCCCGGACCCCGGCTG	0.642000														90			12		0	0	0.000308642	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546309	33546309	+	Splice_Site	SNP	T	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:33546309T>A	uc003jia.1	-	22	4466	c.4303_splice	c.e22-1	p.C1435_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.C1350_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1435	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGGAGCACTGATACACAGC	0.453000										HNSCC(64;0.19)				25			13		0	0	0.000308642	0	0
TMEM131	23505	broad.mit.edu	37	2	98421906	98421906	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:98421906G>A	uc002syh.4	-	20	2446	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	739						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAATAAATGTTTGCAATCT	0.383000														44			19		0	0	7.07596e-05	0	0
OR1M1	125963	broad.mit.edu	37	19	9204217	9204217	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:9204217C>T	uc010xkj.2	+	0	297	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTGCCTGATCCAGATGTACT	0.527000														73			8		0	0	0.000274275	0	0
EPG5	57724	broad.mit.edu	37	18	43458346	43458346	+	Silent	SNP	G	A	A	rs150214973	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr18:43458346G>A	uc002lbm.3	-	33	6037	c.5937C>T	c.(5935-5937)aaC>aaT	p.N1979N	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Silent_p.N533N|EPG5_uc002lbn.2_Silent_p.N854N	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1979					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTTACCTTTCGTTGTCCTCTA	0.328000														59			18		0	0	9.7654e-05	0	0
FGD3	89846	broad.mit.edu	37	9	95772662	95772662	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr9:95772662G>A	uc004asz.2	+	6	1500	c.972G>A	c.(970-972)gcG>gcA	p.A324A	FGD3_uc004asw.2_Silent_p.A324A|FGD3_uc004asx.2_Silent_p.A324A|FGD3_uc004ata.3_Silent_p.A127A	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	324	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGAAGGATGCGGAGAGTGAGC	0.657000														24			7		0	0	0.000157383	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967657	64967657	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr10:64967657T>C	uc001jmn.3	-	9	4072	c.3772A>G	c.(3772-3774)Aaa>Gaa	p.K1258E	JMJD1C_uc001jml.3_Missense_Mutation_p.K1039E|JMJD1C_uc001jmm.3_Missense_Mutation_p.K970E|JMJD1C_uc010qiq.2_Missense_Mutation_p.K1076E|JMJD1C_uc009xpi.3_Missense_Mutation_p.K1076E|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.K295E	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1258					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGGAGTCTTTTGGTTCGGGT	0.423000														61			24		0	0	0.00047179	0	0
OR1M1	125963	broad.mit.edu	37	19	9204595	9204595	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:9204595C>T	uc010xkj.2	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTGTGGCCATCATGAAGGTCC	0.562000														133			25		0	0	0.000184323	0	0
RUFY1	80230	broad.mit.edu	37	5	179036445	179036445	+	Silent	SNP	C	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:179036445C>A	uc003mka.1	+	17	2052	c.2052C>A	c.(2050-2052)tcC>tcA	p.S684S	RUFY1_uc003mkb.1_Silent_p.S576S|RUFY1_uc003mkc.1_Silent_p.S576S|RUFY1_uc003mkd.1_Silent_p.S286S	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	684					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCCTCCTACCCCAAGC	0.647000										HNSCC(44;0.11)				77			14		0.000151284	0.00301981	0.000151284	1	0
RAD54L2	23132	broad.mit.edu	37	3	51677967	51677967	+	Silent	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:51677967C>T	uc011bdt.2	+	14	2552	c.2427C>T	c.(2425-2427)acC>acT	p.T809T	RAD54L2_uc003dbh.3_Silent_p.T398T|RAD54L2_uc011bdu.2_Silent_p.T503T|RAD54L2_uc003dbj.3_Silent_p.T135T	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	809	Helicase C-terminal.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ACCTCACCACCTGGCTGTTCC	0.527000														10			3		0	0	6.4e-05	0	0
CCDC99	54908	broad.mit.edu	37	5	169018183	169018183	+	Silent	SNP	A	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:169018183A>G	uc003mae.4	+	2	570	c.291A>G	c.(289-291)caA>caG	p.Q97Q	CCDC99_uc010jjj.3_Silent_p.Q26Q|CCDC99_uc011deq.2_5'UTR|CCDC99_uc010jjk.3_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	97					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAGAACAACTAAGCAGAA	0.378000														46			14		0	0	0.000219431	0	0
C2CD3	26005	broad.mit.edu	37	11	73795951	73795951	+	Silent	SNP	T	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:73795951T>C	uc001ouu.2	-	21	4202	c.3975A>G	c.(3973-3975)acA>acG	p.T1325T	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1325						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCAGCTCTTTTGTTGGAACTT	0.373000														782			17		0	0	9.7654e-05	0	0
C12orf5	57103	broad.mit.edu	37	12	4460443	4460443	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:4460443T>C	uc001qmp.3	+	4	360	c.281T>C	c.(280-282)gTt>gCt	p.V94A		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	94						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity	p.G93W(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAATACGGGGTTGTAGAAGGC	0.448000														53			25		0	0	0.000147802	0	0
PHC3	80012	broad.mit.edu	37	3	169831280	169831280	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:169831280G>A	uc003fgl.2	-	10	2255	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	PHC3_uc010hws.1_Nonsense_Mutation_p.Q729*|PHC3_uc011bpq.1_Nonsense_Mutation_p.Q688*	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	729					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCACAGGCTGTTCTATTAGC	0.338000														38			10		0	0	3.86212e-05	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60369037	60369037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:60369037G>A	uc003jsp.4	+	1	340	c.213G>A	c.(211-213)tgG>tgA	p.W71*	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	71						membrane|mitochondrion	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CAACAGAATGGGAAGGTAAGT	0.318000														96			92		0	0	0.000147903	0	0
AGMO	392636	broad.mit.edu	37	7	15430341	15430341	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:15430341A>T	uc003stb.1	-	7	947	c.777T>A	c.(775-777)taT>taA	p.Y259*		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	259					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTGTTAAGCCATATACAACTT	0.279000														151			17		0	0	0.000375601	0	0
MBD5	55777	broad.mit.edu	37	2	149247723	149247723	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:149247723A>C	uc002twm.4	+	11	4820	c.3823A>C	c.(3823-3825)Agt>Cgt	p.S1275R	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.S533R|MBD5_uc002twp.3_Missense_Mutation_p.S325R	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1275						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTATGATGAGTTTTAAGGA	0.423000														41			19		0	0	9.7654e-05	0	0
GDPD4	220032	broad.mit.edu	37	11	76980049	76980050	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:76980049_76980050CC>AA	uc001oyf.3	-	7	794_795	c.543_544GG>TT	c.(541-546)ctgggg>ctTTgg	p.G182W		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	182					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAATAAATCCCCAGTGGCATCA	0.455000														938			15		0	0	6.4e-05	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64132815	64132815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:64132815C>T	uc001oae.3	+	8	1032	c.949C>T	c.(949-951)Cca>Tca	p.P317S	RPS6KA4_uc001oad.3_Missense_Mutation_p.P317S|RPS6KA4_uc010rnl.2_Missense_Mutation_p.P254S|RPS6KA4_uc001oaf.3_Missense_Mutation_p.P317S|RPS6KA4_uc009ypp.3_Missense_Mutation_p.P317S	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	317	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GATTCCAGCCCCATTCCGGCC	0.612000														26			14		0	0	0.000151284	0	0
POLR2I	5438	broad.mit.edu	37	19	36605705	36605705	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:36605705C>G	uc002ode.3	-	0	502	c.54G>C	c.(52-54)caG>caC	p.Q18H	POLR2I_uc002odf.3_Non-coding_Transcript|TBCB_uc002odg.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa (POLR2I), mRNA.	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCACCATTCCTGGCAGAAGC	0.657000														124			37		0	0	0.000319135	0	0
CHKA	1119	broad.mit.edu	37	11	67842184	67842185	+	Splice_Site	DNP	CG	AT	AT			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:67842184_67842185CG>AT	uc001onj.3	-	4	844	c.630_splice	c.e4+1	p.P210_splice	CHKA_uc001onk.3_Splice_Site_p.P192_splice	NM_001277	NP_001268	P35790	CHKA_HUMAN	Homo sapiens choline kinase alpha (CHKA), transcript variant 1, mRNA.	210					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CAAATCTTACCGGGATGAACTG	0.470000														559			9		0	0	6.4e-05	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342620	40342620	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:40342620G>C	uc002rrx.3	-	9	2719	c.2695C>G	c.(2695-2697)Cag>Gag	p.Q899E	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.Q894E|SLC8A1_uc002rsb.2_Missense_Mutation_p.Q891E|SLC8A1_uc002rrz.3_Missense_Mutation_p.Q886E|SLC8A1_uc002rsa.3_Missense_Mutation_p.Q863E|SLC8A1_uc002rsd.4_Missense_Mutation_p.Q863E	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	899					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTTTGAACTGTTCCCCATTG	0.552000														37			12		0	0	6.40141e-05	0	0
WBSCR27	155368	broad.mit.edu	37	7	73254876	73254876	+	Missense_Mutation	SNP	G	A	A	rs139449951	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:73254876G>A	uc003tzj.2	-	3	296	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	WBSCR27_uc011kfd.1_Intron	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	86										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CCTGGAGCCCGCAGCTGGGGT	0.657000														44			19		0	0	0.000132079	0	0
TUBA1B	10376	broad.mit.edu	37	12	49522718	49522718	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:49522718C>T	uc001rtm.3	-	3	600	c.379G>A	c.(379-381)Gac>Aac	p.D127N	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Missense_Mutation_p.D92N|TUBA1A_uc010smg.1_Splice_Site	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	127					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GTGCACTGGTCAGCCTGTAGG	0.428000														124			12		0	0	0.000219431	0	0
MYC	4609	broad.mit.edu	37	8	128750836	128750836	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr8:128750836A>T	uc022bbe.1	+	1	898	c.328A>T	c.(328-330)Atg>Ttg	p.M110L	MYC_uc003ysh.1_Missense_Mutation_p.M110L|MYC_uc003ysi.3_Missense_Mutation_p.M125L			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	110					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		GGGAGGAGACATGGTGAACCA	0.607000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			19		0	0	0.000132079	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141316	21141316	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr22:21141316C>G	uc002ztc.2	+	3	1549	c.1546C>G	c.(1546-1548)Ctc>Gtc	p.L516V	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.L488V	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	488					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CAGCTGCCTGCTCTTCATGGG	0.572000														31			25		0	0	0.000184323	0	0
DMXL1	1657	broad.mit.edu	37	5	118464914	118464914	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:118464914C>G	uc010jcl.1	+	9	1292	c.1111C>G	c.(1111-1113)Ctt>Gtt	p.L371V	DMXL1_uc003ksd.2_Missense_Mutation_p.L371V|DMXL1_uc021ycw.1_Missense_Mutation_p.L198V|DMXL1_uc003ksc.1_Missense_Mutation_p.L371V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	371										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGACATTCCACTTCTTCCATC	0.274000														27			8		0	0	0.000442599	0	0
MUC4	4585	broad.mit.edu	37	3	195515876	195515876	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:195515876C>G	uc021xjp.1	-	1	2731	c.2575G>C	c.(2575-2577)Gta>Cta	p.V859L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.V741L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	864	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGCTTACTGGGATGGCA	0.572000														27			11		0	0	6.40141e-05	0	0
FOXA2	3170	broad.mit.edu	37	20	22564860	22564860	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr20:22564860G>A	uc002wsm.3	-	0	242	c.57C>T	c.(55-57)tcC>tcT	p.S19S	FOXA2_uc002wsn.3_Silent_p.S13S	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	13	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGCTCCAGTCGGACGGCTCGT	0.582000														41			15		0	0	7.07596e-05	0	0
MST1P2	11209	broad.mit.edu	37	1	16975994	16975994	+	RNA	SNP	T	C	C	rs2261801	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:16975994T>C	uc010och.2	+	10		c.2016T>C			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.																		CCTCAGGCTCTCAGCTTGTCC	0.597000														61			4		0	0	3.86212e-05	0	0
PNMA3	29944	broad.mit.edu	37	X	152225755	152225755	+	Missense_Mutation	SNP	C	T	T	rs146193731		TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrX:152225755C>T	uc022cho.1	+	0	343	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PNMA3_uc004fhc.2_Missense_Mutation_p.R115W|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	115					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggagaggcggaccgtgtc	0.532000														18			24		0	0	0.000375601	0	0
OR1M1	125963	broad.mit.edu	37	19	9204670	9204670	+	Silent	SNP	C	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:9204670C>A	uc010xkj.2	+	0	750	c.750C>A	c.(748-750)ctC>ctA	p.L250L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTTGCTCTCTTCTATGGGA	0.572000														172			31		3.80469e-20	7.98209e-19	0.000279167	1	0
PGK2	5232	broad.mit.edu	37	6	49754466	49754466	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr6:49754466A>T	uc003ozu.3	-	0	588	c.435T>A	c.(433-435)gaT>gaA	p.D145E		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	145					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTTCTATTTTATCTGGCTCAG	0.507000														35			33		0	0	0.000491102	0	0
DSG2	1829	broad.mit.edu	37	18	29111149	29111149	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr18:29111149G>C	uc002kwu.4	+	8	1402	c.1214G>C	c.(1213-1215)aGc>aCc	p.S405T		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	405	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GATAGATCAAGCAAAGGCCAA	0.388000														62			17		0	0	0.000422831	0	0
SCN8A	6334	broad.mit.edu	37	12	52164343	52164343	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:52164343T>A	uc001ryw.3	+	18	3699	c.3521T>A	c.(3520-3522)gTc>gAc	p.V1174D	SCN8A_uc010snl.2_Missense_Mutation_p.V1174D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1174					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCTGCCAGGTCAACATCGAG	0.587000														27			5		0	0	3.59834e-05	0	0
ODF3	113746	broad.mit.edu	37	11	197726	197726	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:197726G>A	uc001lob.3	+	2	569	c.275G>A	c.(274-276)cGc>cAc	p.R92H	ODF3_uc010qvk.2_Missense_Mutation_p.R92H|ODF3_uc001loc.3_Missense_Mutation_p.R92H	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	92					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTGGGGCGCTACCAAACC	0.622000														36			31		0	0	0.000191422	0	0
LILRA1	11024	broad.mit.edu	37	19	55112268	55112268	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:55112268C>G	uc002qgh.1	+	9	1638	c.1456C>G	c.(1456-1458)Cag>Gag	p.Q486E		NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	486					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TCAGCACAGCCAGAGAAGCCT	0.552000														44			9		0	0	3.86212e-05	0	0
NLK	51701	broad.mit.edu	37	17	26495492	26495492	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:26495492G>C	uc010crj.3	+	5	1068	c.856G>C	c.(856-858)Gcc>Ccc	p.A286P		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	286	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTTTGGATTGGCCAGAGTGGA	0.378000														268			36		0	0	0.000132358	0	0
MST1P2	11209	broad.mit.edu	37	1	16976569	16976569	+	Splice_Site	SNP	G	A	A	rs78288272	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:16976569G>A	uc010och.2	+	14		c.2290_splice	c.e14-1		MST1P2_uc009vox.3_Splice_Site|MST1P2_uc001azm.4_Splice_Site					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TACCTGCCAGGGTGACTACGG	0.567000														33			7		0	0	0.000219431	0	0
ZNF154	7710	broad.mit.edu	37	19	58213208	58213208	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:58213208G>A	uc010euf.3	-	2	1349	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	370						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCGGAGACTGGAGCTGTAGGG	0.488000														38			14		0	0	0.000151284	0	0
QARS	5859	broad.mit.edu	37	3	49137495	49137495	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr3:49137495G>A	uc003cvx.3	-	13	1199	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Silent_p.G253G|QARS_uc003cvy.3_Silent_p.G253G|QARS_uc011bce.2_Silent_p.G387G	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	398					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTGTGGCCTCGCCCTCTGAAA	0.552000														84			36		0	0	0.000191422	0	0
ABCA9	10350	broad.mit.edu	37	17	67008186	67008186	+	Silent	SNP	G	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:67008186G>T	uc002jhu.3	-	22	3221	c.3078C>A	c.(3076-3078)acC>acA	p.T1026T	ABCA9_uc010dez.3_Silent_p.T1026T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1026					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)					TCCAGAAGAAGGTGTTACTTC	0.423000														48			18		1.56452e-12	3.21666e-11	9.7654e-05	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501880	140501880	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:140501880G>A	uc003lip.1	+	0	300	c.300G>A	c.(298-300)ccG>ccA	p.P100P		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	100	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTGAACCGTGTGTACTGC	0.463000														69			24		0	0	7.16444e-05	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055681	226055681	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:226055681A>T	uc001hpm.2	-	6	1043	c.421T>A	c.(421-423)Tcc>Acc	p.S141T	TMEM63A_uc010pvi.1_Missense_Mutation_p.S141T	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	141						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CTCTGGAAGGACAGGTAGTGG	0.547000														68			18		0	0	9.7654e-05	0	0
ZNF473	25888	broad.mit.edu	37	19	50548418	50548418	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr19:50548418C>G	uc002prn.3	+	4	955	c.718C>G	c.(718-720)Caa>Gaa	p.Q240E	ZNF473_uc002prm.3_Missense_Mutation_p.Q240E|ZNF473_uc010ybo.2_Missense_Mutation_p.Q228E	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	240					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CACTGTCCATCAAGAGTGTGA	0.448000														76			20		0	0	9.7654e-05	0	0
ODZ4	26011	broad.mit.edu	37	11	78380233	78380234	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:78380233_78380234CC>AA	uc001ozl.4	-	31	7619_7620	c.7156_7157GG>TT	c.(7156-7158)ggg>TTg	p.G2386L	ODZ4_uc001ozk.4_Missense_Mutation_p.G611L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2386					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTAGATCTCCCCATAGGCTGTG	0.485000														902			13		0	0	6.4e-05	0	0
CREB3L2	64764	broad.mit.edu	37	7	137612996	137612996	+	Silent	SNP	C	T	T	rs146953741	byFrequency	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:137612996C>T	uc003vtw.3	-	1	615	c.219G>A	c.(217-219)ccG>ccA	p.P73P	CREB3L2_uc003vtx.2_Silent_p.P73P|CREB3L2_uc003vty.4_Silent_p.P73P|CREB3L2_uc003vtv.3_Silent_p.P10P	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	73					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TGAGAGGCGCCGGGGACGTCG	0.577000			T	FUS	fibromyxoid sarcoma									13			20		0	0	0.000132079	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764356	140764356	+	Silent	SNP	G	A	A			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr5:140764356G>A	uc003lka.2	+	0	1890	c.1890G>A	c.(1888-1890)cgG>cgA	p.R630R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.R630R	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACGGCTCGGGCCCTGCTGG	0.647000														49			26		0	0	0.000184323	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						33			4		0	0	0.000442599	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118097	118099	+	RNA	DNP	TC	CT	CT			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chrGL000205.1:118097_118099TC>CT	uc002kgk.4	+	0		c.1475_1477TC>CT								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATCTCATCTGCACTCCTCTCA	0.567000														36			4		0	0	6.4e-05	0	0
OR4D2	124538	broad.mit.edu	37	17	56247914	56247914	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:56247914A>G	uc010wnp.2	+	0	898	c.898A>G	c.(898-900)Aga>Gga	p.R300G		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						AGCAGTGAGAAGATTAGGGAG	0.502000														141			33		0	0	0.000159656	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														153			18		0	0	0.000409698	0	0
NARS2	79731	broad.mit.edu	37	11	78282489	78282490	+	Splice_Site	DNP	CC	AA	AA			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:78282489_78282490CC>AA	uc001ozi.3	-	2	518	c.142_splice	c.e2-1	p.G48_splice	NARS2_uc010rsq.2_Splice_Site	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGAATCCATCCCTAAGGAAGAG	0.396000														947			14		0	0	6.4e-05	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	300	---	---	7	---					
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	G	G	rs149873671		TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr2:95539829_95539830insG	uc002stw.1	+	2	782_783	c.689_690insG	c.(688-690)ccgfs	p.P230fs	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663													---	113	---	---	8	---					
KCTD8	386617	broad.mit.edu	37	4	44450273	44450294	+	Frame_Shift_Del	DEL	GCAGCTCGCCCCGGCGCCGGGC	-	-			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr4:44450273_44450294delGCAGCTCGCCCCGGCGCCGGGC	uc003gwu.3	-	0	531_552	c.247_268delGCCCGGCGCCGGGGCGAGCTGC	c.(247-270)gcccggcgccggggcgagctgcccfs	p.A83fs		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	83	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R86L(2)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTCCCTGGGCAGCTcgccccggcgccgggcgccgccACGG	0.658										HNSCC(17;0.042)			---	100	---	---	9	---					
THSD7A	221981	broad.mit.edu	37	7	11871469	11871470	+	In_Frame_Ins	INS	-	GCAGCG	GCAGCG			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr7:11871469_11871470insGCAGCG	uc021zzo.1	-	0	355_356	c.103_104insCGCTGC	c.(103-105)ctc>cCGCTGCtc	p.34_35insPL	THSD7A_uc021zzn.1_In_Frame_Ins_p.34_35insPL	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	34						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)			---	30	---	---	10	---					
DNAJB13	374407	broad.mit.edu	37	11	73676057	73676057	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:73676057delA	uc001ouo.3	+	3	1220	c.469delA	c.(469-471)aaafs	p.K157fs		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	157					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TGGCTGCACCAAAAAAATTAA	0.572											OREG0021218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	861	---	---	8	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	398	---	---	15	---					
KCTD14	65987	broad.mit.edu	37	11	77734223	77734223	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr11:77734223delG	uc001oyw.4	-	0	98	c.73delC	c.(73-75)cggfs	p.R25fs	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	25						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			CGCCTGGGCCGGGGGGACTGG	0.687													---	2737	---	---	9	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	179	---	---	9	---					
EFTUD2	9343	broad.mit.edu	37	17	42929088	42929089	+	Frame_Shift_Ins	INS	-	G	G			TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:42929088_42929089insG	uc002ihn.2	-	26	3073_3074	c.2812_2813insC	c.(2812-2814)cgcfs	p.R938fs	EFTUD2_uc010wje.1_Frame_Shift_Ins_p.R903fs|EFTUD2_uc010wjf.1_Frame_Shift_Ins_p.R928fs	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	938						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTCCTACGGCGGGTTTTGATC	0.559													---	10	---	---	5	---					
JA425978	0	broad.mit.edu	37	17	76154382	76154382	+	Splice_Site	DEL	T	-	-	rs6501181	by1000genomes	TCGA-ER-A19T-01A-11D-A19A-08	TCGA-ER-A19T-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1942d67-3c90-474e-9164-e76ddf9e335a	e694c1a2-86f0-43d0-95cc-4cfaf0b04060	g.chr17:76154382delT	uc021ueb.1	+	1		c.21_splice	c.e1+1		C17orf99_uc002jus.4_Intron|C17orf99_uc010wts.1_5'Flank					Sequence 5 from Patent EP2265717.																		CTCCTACACAttttttttttt	0.607													---	5	---	---	4	---