Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPTBN2	6712	broad.mit.edu	37	11	66460020	66460020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:66460020T>C	uc001ojd.3	-	24	5249	c.5177A>G	c.(5176-5178)tAc>tGc	p.Y1726C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1726					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACATGCTCGTAGTCCTGGCC	0.647000													3	109					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													4	151					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77924826	77924826	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:77924826C>T	uc021qny.1	+	10	3380	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	USP35_uc001ozc.3_Silent_p.G576G|USP35_uc010rsp.2_Silent_p.G440G|USP35_uc001ozd.3_Silent_p.G619G|USP35_uc001ozf.3_Silent_p.G739G	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	1008					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)			CTGCAGGTGGCAATGGTGGTG	0.582000													4	74					0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746172	90746172	+	Missense_Mutation	SNP	C	C	T	rs146157051	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:90746172C>T	uc011lti.2	-	3	1809	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	594																	CGCACACTCACGGGGATCAAG	0.507000													5	182					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1755354	1755354	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:1755354C>T	uc004cqd.3	+	8	1027	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S	ASMT_uc010ncy.3_Missense_Mutation_p.P271S|ASMT_uc004cqe.3_Missense_Mutation_p.P196S	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	243					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACCCTCTTCCGGAAGCTGA	0.542000													17	267					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													3	53					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82064095	82064095	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:82064095G>A	uc003hmh.2	-	9	1273	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Silent_p.S420S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	420					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTTAGACATGGACCGCCTGT	0.438000													13	69					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													6	58					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167277926	167277926	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:167277926C>T	uc003fev.1	-	4	881	c.577G>A	c.(577-579)Gca>Aca	p.A193T	WDR49_uc003feu.1_Missense_Mutation_p.A18T|WDR49_uc011bpd.1_Missense_Mutation_p.A246T|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	193								p.N192N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGATTTCTGCGTTGCCGTGG	0.453000													18	96					0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:10147815G>A	uc001qwu.3	-	4	669	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	CLEC1B_uc009zhd.3_Missense_Mutation_p.R124C	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	157	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.R157C(2)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418000													51	267					0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594188	30594188	+	RNA	SNP	C	C	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:30594188C>A	uc002dyu.3	+	1		c.495C>A			ZNF785_uc002dyv.2_Missense_Mutation_p.R289L|ZNF785_uc002dyw.2_Missense_Mutation_p.R304L|ZNF785_uc010vez.2_Missense_Mutation_p.R269L			A8K8V0	ZN785_HUMAN	Homo sapiens cDNA clone IMAGE:4906981, partial cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGTGTGTATGCGCCTGTGGAT	0.647000													3	47					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701810	30701810	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr8:30701810G>A	uc003xil.3	-	0	4724	c.4724C>T	c.(4723-4725)aCg>aTg	p.T1575M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1575										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAATAGGCGTATGATTAAC	0.388000													9	104					0	0	1	0	0
MESP1	55897	broad.mit.edu	37	15	90293435	90293435	+	Silent	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:90293435A>C	uc002bol.3	-	1	825	c.747T>G	c.(745-747)gcT>gcG	p.A249A		NM_018670	NP_061140	Q9BRJ9	MESP1_HUMAN	Homo sapiens mesoderm posterior 1 homolog (mouse) (MESP1), mRNA.	249					Notch signaling pathway|cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|positive regulation of Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCTCCAACAGAGCCAGCACGT	0.647000													11	73					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32610273	32610273	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:32610273G>A	uc001mtu.3	+	2	352	c.309G>A	c.(307-309)ctG>ctA	p.L103L	EIF3M_uc010ref.2_Intron	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	103						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.L103P(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTCTGAGACTGCAGTTGTAAG	0.408000													4	122					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65234714	65234714	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:65234714G>T	uc002aoa.3	+	9	947	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.L215F	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	306					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCCCTGCCTTGGTCCGGCTCC	0.602000													3	42					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:22155896A>C	uc021urr.1	-	3	2089	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													5	87					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19419969	19419969	+	RNA	SNP	T	T	C	rs76149397		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr13:19419969T>C	uc010tcj.1	-	0		c.26141A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GACAAATTCATTGGTTTAGTT	0.303000													4	50					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45916217	45916217	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:45916217G>A	uc002imd.3	-	4	838	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SCRN2_uc002imf.3_Missense_Mutation_p.R238C	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	238					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCTCCATGCGCACAGGCTGC	0.672000													5	136					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:49094329T>G	uc010hkq.3	-	3	1600	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_uc003cvu.3_Missense_Mutation_p.Q435P|QRICH1_uc003cvv.3_Missense_Mutation_p.Q435P|QRICH1_uc021wxr.1_Missense_Mutation_p.Q372P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	435	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562000													3	66					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296303	47296303	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:47296303G>A	uc001ner.1	+	2	443	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MADD_uc001neq.2_Silent_p.K84K|MADD_uc001nev.1_Silent_p.K84K|MADD_uc001nes.1_Silent_p.K84K|MADD_uc001net.1_Silent_p.K84K|MADD_uc009yln.1_Silent_p.K84K|MADD_uc001neu.1_Silent_p.K84K|MADD_uc001nez.2_Silent_p.K84K|MADD_uc001new.2_Silent_p.K84K|MADD_uc001nex.2_Silent_p.K84K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	84	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCACTGACAAGGACACTGGAG	0.567000													3	135					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711208	20711208	+	Silent	SNP	C	C	T	rs150420661		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:20711208C>T	uc010tld.2	+	0	258	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S85S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTGTCCTCCACTATTCCTA	0.453000													5	166					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207627	81207627	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:81207627G>A	uc003hmd.3	+	2	845	c.608G>A	c.(607-609)aGc>aAc	p.S203N	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	203					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGAGGGTGCAGCCCCCGGGTT	0.473000													3	91					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105528	24105528	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:24105528T>C	uc002dmd.3	+	6	928	c.731T>C	c.(730-732)aTt>aCt	p.I244T	PRKCB_uc002dme.3_Missense_Mutation_p.I244T	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	244	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCAGTAGAGATTTGGGATTGG	0.418000													17	52					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													5	42					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317054	141317054	+	Silent	SNP	A	A	G	rs145850842	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:141317054A>G	uc011chi.2	-	10	1286	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	CLGN_uc003iii.3_Silent_p.G356G	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	356					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCCACTCACCACACCCAA	0.433000													3	63					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410187	159410187	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:159410187T>G	uc010piv.2	+	0	676	c.639T>G	c.(637-639)agT>agG	p.S213R	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	213					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)					TGATTATCAGTGTGCTGGTGC	0.458000													20	106					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231471575	231471575	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:231471575C>T	uc001huq.3	-	0	2004	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	639					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTACCATGTGCAGCTCTGGGA	0.478000													13	77					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56585536	56585536	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:56585536G>A	uc002iwj.2	-	7	761	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	217	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACAACCACGGGAATCCGCT	0.522000													33	82					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125472775	125472775	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:125472775G>A	uc001qcd.2	+	4	459	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	STT3A_uc009zbm.2_Missense_Mutation_p.V117M|STT3A_uc001qce.2_Missense_Mutation_p.V117M|STT3A_uc010sbg.1_Missense_Mutation_p.V25M	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	117					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAATGTCTGTGTGTTCCTGGC	0.488000													22	55					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43700278	43700278	+	Silent	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:43700278T>G	uc003joe.3	+	19	3189	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A	NNT_uc003jof.3_Silent_p.A978A	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	978					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGCTGGCTGAGGCTGGTG	0.453000													26	85					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:186276981A>G	uc001gru.4	+	6	2181	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K669K|PRG4_uc009wyl.3_Silent_p.K617K|PRG4_uc009wym.3_Silent_p.K576K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													5	103					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236749185	236749185	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:236749185G>T	uc001hyd.2	-	15	2136	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	HEATR1_uc009xgh.2_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	662					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCATCTTCTGATTTGCTACA	0.363000													3	43					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085746	35085746	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:35085746T>G	uc001ziu.1	-	2	397	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	52					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGAGTCCTTCTGACCCATA	0.453000													5	27					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61574167	61574167	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:61574167C>T	uc010rlm.2	-	5	1073	c.945G>A	c.(943-945)ccG>ccA	p.P315P	FADS1_uc001nsh.3_Silent_p.P174P|FADS1_uc010rln.1_Silent_p.P174P	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	258					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGGTTGTACGGCATATATT	0.483000													20	110					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835675	101835675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:101835675G>A	uc001kql.2	-	1	673	c.413C>T	c.(412-414)gCt>gTt	p.A138V		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	138	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACCTGGGCAGCAGCCACCTC	0.567000													3	48					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:64041106T>C	uc001srp.1	-	4	809	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	210					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318000													4	110					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													3	43					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617884	37617884	+	Silent	SNP	C	C	T	rs112487012		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr21:37617884C>T	uc002yvg.3	+	18	3685	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L	DOPEY2_uc011aeb.2_Silent_p.L1151L|DOPEY2_uc002yvh.3_Silent_p.L53L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1202					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622000													4	35					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51774158	51774158	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:51774158T>C	uc003pah.1	-	39	6881	c.6605A>G	c.(6604-6606)aAg>aGg	p.K2202R	PKHD1_uc010jzn.1_Missense_Mutation_p.K227R|PKHD1_uc003pai.3_Missense_Mutation_p.K2202R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2202					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)					CTGCACTCCCTTCAACTGGAC	0.532000													3	185					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235557	127235557	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:127235557G>A	uc003vmd.2	+	1	560	c.341G>A	c.(340-342)cGt>cAt	p.R114H	FSCN3_uc003vmc.1_Missense_Mutation_p.R69H|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Missense_Mutation_p.R114H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	114						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.R114H(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTCTGGTCGTTATTTGGAG	0.567000													3	57					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:122774732G>A	uc001pym.3	+	2	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_uc001pyl.1_Silent_p.P148P	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	148								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532000													3	118					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94022425	94022425	+	Splice_Site	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:94022425T>G	uc003kkr.4	+	16	2201	c.2121_splice	c.e16+2	p.M707_splice	ANKRD32_uc003kks.3_Splice_Site_p.M71_splice	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	707										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAAAATGGTAAGTACCTCT	0.363000													14	67					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:166514412G>A	uc002udf.3	+	4	666	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_uc002udg.3_Missense_Mutation_p.R97H	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	97					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R97H(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547000													3	46					0	0	1	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027359	26027359	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:26027359C>T	uc003nfr.3	-	0	122	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	41					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R40S(1)|p.R40M(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACCCCACCACGCCTAGCAAG	0.552000													4	62					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282808	152282808	+	Silent	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:152282808A>G	uc001ezu.1	-	2	4590	c.4554T>C	c.(4552-4554)caT>caC	p.H1518H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1518	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Y1517H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGGTACCCTG	0.562000									Ichthyosis				62	383					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113965800	113965800	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:113965800C>T	uc004epu.1	+	3	861	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	HTR2C_uc010nqc.1_Missense_Mutation_p.R45C|HTR2C_uc004epv.1_Missense_Mutation_p.R45C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	45					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGATGGTGGACGCTTCAAATT	0.443000													25	75					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38810577	38810577	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:38810577A>T	uc021yzh.1	+	34	4852	c.4743A>T	c.(4741-4743)agA>agT	p.R1581S	DNAH8_uc003ooe.2_Missense_Mutation_p.R1364S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGGATAGAATCTCCGAGT	0.383000													24	99					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146032204	146032204	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:146032204A>C	uc003ijx.3	+	7	1138	c.698A>C	c.(697-699)cAg>cCg	p.Q233P	ABCE1_uc003ijy.3_Missense_Mutation_p.Q233P|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	233	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTGCATACAGAAAGCTGAT	0.363000													6	69					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701423	23701423	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:23701423T>C	uc003zpu.3	-	4	942	c.667A>G	c.(667-669)Aac>Gac	p.N223D	ELAVL2_uc003zps.3_Missense_Mutation_p.N223D|ELAVL2_uc003zpt.3_Missense_Mutation_p.N223D|ELAVL2_uc003zpv.3_Missense_Mutation_p.N223D|ELAVL2_uc003zpw.3_Missense_Mutation_p.N223D	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.N223N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTTCTGTTTGGAGACTGG	0.488000													32	224					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46095073	46095073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:46095073G>A	uc002pcm.3	-	1	997	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.L18F	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	18						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGCGGAAAGAGGTGGTCCACG	0.672000													10	59					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114256026	114256026	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:114256026T>C	uc009wgp.1	-	6	1110	c.658A>G	c.(658-660)Act>Gct	p.T220A	PHTF1_uc001edn.3_Missense_Mutation_p.T220A|PHTF1_uc001edm.2_5'UTR|PHTF1_uc001edo.1_5'UTR	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTTTCAGTCCCTTTGTTA	0.318000													3	24					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773282	40773282	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:40773282T>C	uc004abs.2	-	4	2145	c.1993A>G	c.(1993-1995)Aga>Gga	p.R665G	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R665G	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGAAAGATCTCCCACATTCA	0.403000													3	156					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:12887686T>C	uc001auk.2	-	2	367	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	57								p.R57R(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000													3	219					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184936017	184936017	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:184936017A>C	uc003fpf.3	-	4	551	c.475T>G	c.(475-477)Tta>Gta	p.L159V	EHHADH_uc011brs.2_Missense_Mutation_p.L63V	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	159	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCATCTGCTAAAATACGTCTT	0.378000													29	104					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883592	52883592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:52883592G>A	uc003gzi.3	-	0	195	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	63						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCCACAGTGGCTGCTGTCTG	0.353000													5	42					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:12187443C>G	uc002mtb.2	+	3	1651	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													5	71					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1024635	1024635	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:1024635G>A	uc003sjq.1	+	2	400	c.387G>A	c.(385-387)acG>acA	p.T129T	CYP2W1_uc003sjr.1_Silent_p.T129T	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily W, polypeptide 1 (CYP2W1), mRNA.	129					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652000													9	60					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:71346978T>C	uc011cat.2	+	3	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_uc011cau.2_Missense_Mutation_p.S173P|MUC7_uc003hfj.3_Missense_Mutation_p.S173P	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	173	Thr-rich.					extracellular region	protein binding	p.S173P(6)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													3	145					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128351136	128351136	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:128351136C>T	uc002top.3	+	17	2214	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	721	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGCAAGCTCCGCCAGATGAC	0.612000													3	115					0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:33065979_33065981delGAA	uc001bvn.3	+	4	1770_1772	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_3'UTR|ZBTB8OS_uc001bvo.1_Intron	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													9	101	---	---	---	---					
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													3	5	---	---	---	---					
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:165177332_165177334delTGC	uc001gcz.2	-	6	977_979	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_uc021pdz.1_In_Frame_Del_p.261_262QQ>Q|LMX1A_uc021pdy.1_In_Frame_Del_p.12_13QQ>Q|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	261	Gln-rich.|Poly-Gln.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567													8	57	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	51	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137534099	137534101	+	In_Frame_Del	DEL	GCT	-	-	rs13288533		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:137534099_137534101delGCT	uc004cfe.3	+	0	448_450	c.66_68delGCT	c.(64-69)ccgctg>ccg	p.L28del		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	28					axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		tgctgcccccgctgctgctgctg	0.828													2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	-	-	rs3832971		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:71275774_71275776delCCT	uc001xmm.3	-	0	113_115	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_uc001xml.3_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	4	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:29625899_29625900insAT	uc010ztl.1	+	1	85_86	c.53_54insAT	c.(52-54)aaafs	p.K18fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													7	104	---	---	---	---					
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:56227348_56227349insG	uc002xyq.3	-	3	1017_1018	c.624_625insC	c.(622-627)cccagcfs	p.P208fs	PMEPA1_uc002xyr.3_Frame_Shift_Ins_p.P158fs|PMEPA1_uc002xys.3_Frame_Shift_Ins_p.P173fs|PMEPA1_uc002xyt.3_Frame_Shift_Ins_p.P158fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	208					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683													12	57	---	---	---	---					
