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
RNF135	84282	broad.mit.edu	37	17	29326025	29326025	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:29326025G>A	ENST00000328381.5	+	5	1988	c.1115G>A	c.(1114-1116)aGa>aAa	p.R372K	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	372	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGCTCAGACAGACCTGGGGTG	0.522000													47	13					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46256484	46256484	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:46256484G>A	ENST00000372004.3	+	7	928	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	NCOA3_ENST00000341724.6_Missense_Mutation_p.E238K|NCOA3_ENST00000371997.3_Missense_Mutation_p.E238K|NCOA3_ENST00000371998.3_Missense_Mutation_p.E238K|NCOA3_ENST00000497292.1_3'UTR	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	238					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGATGGAGGAAGGGGAAGG	0.418000													30	51					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436055	82436055	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:82436055T>C	ENST00000370728.1	+	18	3424	c.2779T>C	c.(2779-2781)Tgg>Cgg	p.W927R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.W927R|LPHN2_ENST00000319517.6_Missense_Mutation_p.W914R|LPHN2_ENST00000370721.1_Missense_Mutation_p.W852R|LPHN2_ENST00000370723.1_Missense_Mutation_p.W914R|LPHN2_ENST00000370725.1_Missense_Mutation_p.W927R|LPHN2_ENST00000370727.1_Missense_Mutation_p.W927R|LPHN2_ENST00000394879.1_Missense_Mutation_p.W914R|LPHN2_ENST00000359929.3_Missense_Mutation_p.W914R|LPHN2_ENST00000335786.5_Missense_Mutation_p.W927R|LPHN2_ENST00000370730.1_Missense_Mutation_p.W927R|LPHN2_ENST00000271029.4_Missense_Mutation_p.W927R|LPHN2_ENST00000370713.1_Missense_Mutation_p.W914R|LPHN2_ENST00000370715.1_Missense_Mutation_p.W914R			O95490	LPHN2_HUMAN	latrophilin 2	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCTTTTGCTTGGATGTGCCT	0.358000													59	25					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216449	78216449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:78216449G>A	ENST00000171757.2	+	4	712	c.432G>A	c.(430-432)tgG>tgA	p.W144*	P2RY10_ENST00000544091.1_Nonsense_Mutation_p.W144*|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	144						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCAGAGACTGGAAGCGTAGGT	0.493000													27	90					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869584	22869584	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:22869584C>T	ENST00000302097.3	-	2	623	c.371G>A	c.(370-372)gGt>gAt	p.G124D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CATTTTATAACCAGGTTCAGA	0.488000													28	114					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46408012	46408012	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:46408012C>T	ENST00000433765.2	-	1	95	c.96G>A	c.(94-96)atG>atA	p.M32I		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	32					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CAATGAAGACCATTTCCACCG	0.562000													46	88					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158655007	158655007	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:158655007G>A	ENST00000368148.3	-	2	335	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SPTA1_ENST00000368147.3_Missense_Mutation_p.S52F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	52					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					taagtgataggaatcctcaag	0.468000													27	71					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127101905	127101905	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:127101905C>A	ENST00000373600.3	+	9	995	c.780C>A	c.(778-780)ttC>ttA	p.F260L	NEK6_ENST00000546191.1_Missense_Mutation_p.F226L|NEK6_ENST00000540326.1_Missense_Mutation_p.F244L|NEK6_ENST00000320246.5_Missense_Mutation_p.F226L|NEK6_ENST00000539416.1_Missense_Mutation_p.F251L|NEK6_ENST00000373603.1_Missense_Mutation_p.F226L|NEK6_ENST00000394199.2_Missense_Mutation_p.F260L|NEK6_ENST00000545174.1_Missense_Mutation_p.F226L	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	226	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GCTACAACTTCAAGTCCGACA	0.587000													118	39					3.44819e-71	3.65572e-71	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125827631	125827631	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:125827631C>T	ENST00000373647.4	+	14	1933	c.1799C>T	c.(1798-1800)tCt>tTt	p.S600F	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	600	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CCACAGGAGTCTCCCCAGGAC	0.408000													63	29					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011160	78011160	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:78011160A>G	ENST00000435339.2	+	2	1199	c.794A>G	c.(793-795)tAc>tGc	p.Y265C	LPAR4_ENST00000373301.2_Missense_Mutation_p.Y265C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	265						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTTGTACCCTACAACTCTGTC	0.423000													9	45					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985695	50985695	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:50985695G>A	ENST00000442544.2	+	24	4102	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	DCC_ENST00000581580.1_Missense_Mutation_p.M797I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1162					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AAATGGAGATGAAAAATATTG	0.522000													47	94					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19643533	19643533	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:19643533C>T	ENST00000514277.3	+	3	337	c.302C>T	c.(301-303)gCc>gTc	p.A101V	CTC-260F20.3_ENST00000555938.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000436027.4_Missense_Mutation_p.A51V	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	101	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CATGCTAGTGCCGTGGCTGTG	0.652000													7	0					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094384	150094384	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:150094384C>T	ENST00000329630.5	+	3	922	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gtctccggccccgaggggccg	0.756000													16	12					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692916	26692916	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:26692916C>T	ENST00000529632.2	+	4	1228	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	SEZ6L_ENST00000360929.3_Silent_p.T344T|SEZ6L_ENST00000404234.3_Silent_p.T344T|SEZ6L_ENST00000402979.1_Silent_p.T117T|SEZ6L_ENST00000248933.6_Silent_p.T344T|SEZ6L_ENST00000343706.4_Silent_p.T344T|SEZ6L_ENST00000403121.1_Silent_p.T117T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	344	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACGGCCCTACCCTGACCGTCC	0.612000													12	48					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73485731	73485731	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:73485731C>T	ENST00000314256.7	+	9	1336	c.942C>T	c.(940-942)ctC>ctT	p.L314L	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.L324L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	314					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTACACCCTCCTCCAGCTCC	0.632000													44	53					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9912706	9912706	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:9912706G>A	ENST00000380913.3	+	9	4427	c.4337G>A	c.(4336-4338)cGc>cAc	p.R1446H	SHROOM2_ENST00000418909.2_Missense_Mutation_p.R281H	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1446	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGCATCAGCCGCAAGCTGCAG	0.677000													3	20					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38942477	38942477	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:38942477C>T	ENST00000355481.4	+	12	1327	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V	RYR1_ENST00000359596.3_Missense_Mutation_p.A399V|RYR1_ENST00000360985.3_Missense_Mutation_p.A399V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	399					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGTCCCAGGCCGCCCGCATG	0.627000													57	55					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048254	2048254	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:2048254G>A	ENST00000563630.1	-	12	2771	c.2529C>T	c.(2527-2529)gcC>gcT	p.A843A	ZNF598_ENST00000431526.1_Silent_p.A898A|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Silent_p.A843A			Q86UK7	ZN598_HUMAN	zinc finger protein 598	898						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TCCTGGCGATGGCTTGCAGGG	0.677000													126	225					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692838	89692838	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:89692838C>T	ENST00000371953.3	+	5	1679	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	108	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L108_D109del(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGTGAAGATCTTGACCAATG	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			68	29					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	883176	883176	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:883176C>T	ENST00000449825.1	-	10	1287	c.931G>A	c.(931-933)Gat>Aat	p.D311N	CHID1_ENST00000454838.2_Missense_Mutation_p.D336N|CHID1_ENST00000528581.1_Missense_Mutation_p.D336N|CHID1_ENST00000436108.2_Missense_Mutation_p.D311N|CHID1_ENST00000323578.8_Missense_Mutation_p.D311N|CHID1_ENST00000429789.2_Missense_Mutation_p.D280N|CHID1_ENST00000336845.5_Missense_Mutation_p.D336N|CHID1_ENST00000323541.7_Missense_Mutation_p.D341N|CHID1_ENST00000526714.1_5'UTR	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	311					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TCACGGGCATCCTTGGAGGTC	0.622000													154	148					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208038	106208038	+	RNA	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr14:106208038G>A	ENST00000390548.2	-	0	764																											CGCTGGGATAGAAGCCTTTGA	0.622000													98	150					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195728	131195728	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:131195728G>A	ENST00000541194.1	-	2	828	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	PODXL_ENST00000537928.1_Missense_Mutation_p.P189S|PODXL_ENST00000322985.9_Missense_Mutation_p.P189S|PODXL_ENST00000378555.3_Missense_Mutation_p.P189S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	189	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGTTGTCGGGGGCTAAGTGGA	0.532000													89	193					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114536587	114536587	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:114536587G>A	ENST00000371920.3	+	2	129	c.122G>A	c.(121-123)gGg>gAg	p.G41E	LUZP4_ENST00000451986.2_5'UTR	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	41						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGTTAGAAGGGACAAATGCT	0.328000													69	63					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783508	160783508	+	Silent	SNP	C	C	T	rs143381957	by1000genomes	TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:160783508C>T	ENST00000263285.5	+	3	567	c.537C>T	c.(535-537)tcC>tcT	p.S179S	LY9_ENST00000341032.4_Silent_p.S179S|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.S139S|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	179	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAATGTGCTCCGTGAAGGGGG	0.532000													71	74					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83037702	83037702	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:83037702C>T	ENST00000307792.3	-	6	1119	c.652G>A	c.(652-654)Gat>Aat	p.D218N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D158N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	218	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGACGCTCATCGTCATGCTCA	0.443000													17	58					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457349	124457349	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:124457349G>A	ENST00000329446.4	-	3	939	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	303										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTCTCTCCGTGATATAAAATC	0.428000													67	21					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814213	103814213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:103814213G>A	ENST00000302251.5	-	5	1172	c.721C>T	c.(721-723)Cga>Tga	p.R241*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.R247*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	247					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GACCTGCCTCGATACCGAGGG	0.413000													18	6					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762550	30762550	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:30762550C>T	ENST00000563588.1	+	3	458	c.219C>T	c.(217-219)gcC>gcT	p.A73A	RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Silent_p.A73A|PHKG2_ENST00000328273.7_Silent_p.A73A	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	73	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			TGCGGGAAGCCACACGGCGAG	0.602000													30	44					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768479	39768479	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:39768479C>T	ENST00000301653.4	-	1	526	c.462G>A	c.(460-462)caG>caA	p.Q154Q		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	154	Linker 1.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCCGCTGCCTCTGGTACCAGT	0.567000													101	131					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814269	3814269	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:3814269G>A	ENST00000315677.3	-	5	1557	c.962C>T	c.(961-963)cCa>cTa	p.P321L	DLGAP1_ENST00000400149.3_Missense_Mutation_p.P29L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.P321L|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P321L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P27L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P19L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P27L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P27L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P19L|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P19L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P33L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P321L	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	321					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TTCATCTTGTGGAACCTATTC	0.348000													69	97					0	0	1	0	0
HES6	55502	broad.mit.edu	37	2	239147613	239147613	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:239147613G>A	ENST00000272937.5	-	4	748	c.530C>T	c.(529-531)cCt>cTt	p.P177L	HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Missense_Mutation_p.P175L|HES6_ENST00000409182.1_Missense_Mutation_p.P148L			Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	177					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTCGTCCCCAGGACCCGGGGG	0.736000													7	18					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759215	6759215	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:6759215C>A	ENST00000378827.4	+	3	1889	c.670C>A	c.(670-672)Cat>Aat	p.H224N		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	224					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACACGCCAACCATGGATTCGT	0.517000													20	21					8.00594e-06	8.07648e-06	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103507	53103507	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:53103507G>A	ENST00000408890.4	+	1	159	c.143G>A	c.(142-144)gGt>gAt	p.G48D		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	48										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTCCCCAGGGTCGCCAGAGT	0.682000													40	66					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690490	7690490	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:7690490C>G	ENST00000533558.1	-	5	890	c.334G>C	c.(334-336)Ggg>Cgg	p.G112R	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483000													76	100					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175293620	175293620	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:175293620A>T	ENST00000367674.1	-	22	4537	c.3829T>A	c.(3829-3831)Tcc>Acc	p.S1277T	TNR_ENST00000263525.2_Missense_Mutation_p.S1277T|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1277	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCTCTGTGGAGAAAGGGCGT	0.473000													33	95					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170883572	170883572	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:170883572C>A	ENST00000274625.5	+	5	931	c.387C>A	c.(385-387)ttC>ttA	p.F129L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	129					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGTGTGTTCATCGAGAAGG	0.567000													60	27					1.69475e-38	1.78027e-38	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48649267	48649267	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:48649267G>A	ENST00000352832.5	+	5	987	c.615G>A	c.(613-615)ctG>ctA	p.L205L	CACNA1G_ENST00000507896.1_Silent_p.L205L|CACNA1G_ENST00000416767.4_Silent_p.L205L|CACNA1G_ENST00000505165.1_Silent_p.L205L|CACNA1G_ENST00000429973.2_Silent_p.L205L|CACNA1G_ENST00000358244.5_Silent_p.L205L|CACNA1G_ENST00000507510.2_Silent_p.L205L|CACNA1G_ENST00000515765.1_Silent_p.L205L|CACNA1G_ENST00000502264.1_Silent_p.L205L|CACNA1G_ENST00000507609.1_Silent_p.L205L|CACNA1G_ENST00000514717.1_Silent_p.L205L|CACNA1G_ENST00000514079.1_Silent_p.L205L|CACNA1G_ENST00000354983.4_Silent_p.L205L|CACNA1G_ENST00000359106.5_Silent_p.L205L|CACNA1G_ENST00000507336.1_Silent_p.L205L|CACNA1G_ENST00000513964.1_Silent_p.L205L|CACNA1G_ENST00000512389.1_Silent_p.L205L|CACNA1G_ENST00000514181.1_Silent_p.L205L|CACNA1G_ENST00000442258.2_Silent_p.L205L|CACNA1G_ENST00000513689.2_Silent_p.L205L|CACNA1G_ENST00000515411.1_Silent_p.L205L|CACNA1G_ENST00000503485.1_Silent_p.L205L|CACNA1G_ENST00000510366.1_Silent_p.L205L|CACNA1G_ENST00000360761.4_Silent_p.L205L|CACNA1G_ENST00000510115.1_Silent_p.L205L|CACNA1G_ENST00000515165.1_Silent_p.L205L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	205					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGTTGCTGCTGGATACGCTGC	0.652000													58	86					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274832	74274832	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:74274832C>T	ENST00000409262.3	+	1	1383	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	461							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAGCTGCCCCTGGGATCA	0.592000													15	23					0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24593424	24593424	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:24593424G>A	ENST00000379145.1	-	7	710	c.666C>T	c.(664-666)taC>taT	p.Y222Y	PCYT1B_ENST00000356768.4_Silent_p.Y240Y|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Silent_p.Y240Y	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	240	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTGGAAACGGTACCTCTTCT	0.358000													11	36					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43572458	43572458	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:43572458C>G	ENST00000372236.4	+	8	1286	c.991C>G	c.(991-993)Ctt>Gtt	p.L331V	POLH_ENST00000535400.1_Missense_Mutation_p.L269V|POLH_ENST00000372226.1_Missense_Mutation_p.L331V	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	331					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AAAAACAGCTCTTGCTACTCG	0.463000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				57	71					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138880881	138880881	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:138880881G>A	ENST00000370557.1	-	9	1759	c.732C>T	c.(730-732)ctC>ctT	p.L244L	ATP11C_ENST00000359686.2_Silent_p.L247L|ATP11C_ENST00000361648.2_Silent_p.L247L|ATP11C_ENST00000327569.3_Silent_p.L247L|ATP11C_ENST00000370543.1_Silent_p.L247L			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	247					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTTTCAGCAAGAGATTTTCAG	0.363000													34	26					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182908438	182908438	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:182908438G>A	ENST00000367547.3	-	5	1185	c.949C>T	c.(949-951)Ctc>Ttc	p.L317F	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.L198F	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	389										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TACTCAATGAGCTCGACACGT	0.373000													11	36					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20547710	20547710	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr4:20547710A>T	ENST00000504154.1	+	22	2585	c.2333A>T	c.(2332-2334)cAt>cTt	p.H778L	SLIT2_ENST00000503823.1_Missense_Mutation_p.H770L|SLIT2_ENST00000273739.5_Missense_Mutation_p.H782L|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.H774L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	778					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AACTACAAACATTTAACACTT	0.363000													16	8					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436778	248436778	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:248436778T>G	ENST00000318021.2	-	1	360	c.339A>C	c.(337-339)ttA>ttC	p.L113F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATGGCTGCTAAGAGGAAGC	0.587000													46	133					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45960755	45960755	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:45960755G>A	ENST00000432082.1	-	5	778	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_3'UTR																cervix(1)|endometrium(1)	2						GGGCCCCAAAGGAATAGGTCC	0.507000													63	70					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027553	92027553	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:92027553C>T	ENST00000265742.3	+	20	2936	c.2560C>T	c.(2560-2562)Ccc>Tcc	p.P854S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	854							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGACGATCCCAATATACT	0.408000													15	41					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496454	76496454	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr15:76496454G>A	ENST00000388942.3	+	11	1670	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	465						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTCGCCCGGCCCAGCCCA	0.652000													79	133					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15288467	15288467	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:15288467G>A	ENST00000263388.2	-	24	4347	c.4272C>T	c.(4270-4272)ccC>ccT	p.P1424P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1424					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATTGCCGCCAGGGGTCGCCCA	0.716000													7	2					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632842	33632842	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:33632842C>T	ENST00000374316.5	+	14	2321	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	ITPR3_ENST00000605930.1_Missense_Mutation_p.P421S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	421	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGGCACCTGCCCCACCAAGGA	0.657000													56	97					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834533	101834533	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:101834533C>T	ENST00000506729.1	-	1	187	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A6T|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A6T|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A6T|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A6T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	6						integral to membrane|plasma membrane	transporter activity	p.A6S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGTGCCGGGCGACGCCTACG	0.706000													142	58					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650286	47650286	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:47650286G>A	ENST00000398742.2	+	5	1836	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	GPR111_ENST00000507065.1_Missense_Mutation_p.G596E|GPR111_ENST00000296862.1_Missense_Mutation_p.G664E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	664					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGACCTGGGGATTTGGAGTA	0.507000													24	48					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135696	8135696	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:8135696G>A	ENST00000315684.8	-	12	2050	c.2043C>T	c.(2041-2043)atC>atT	p.I681I		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	681					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCTGCTTCTGGATGAAGCCTG	0.587000													161	65					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79429006	79429006	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:79429006C>T	ENST00000307745.7	+	30	7317	c.7317C>T	c.(7315-7317)aaC>aaT	p.N2439N																								CCGTGGAAAACCGGCCAAAGA	0.642000													16	23					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160155992	160155992	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr3:160155992A>T	ENST00000309784.4	-	3	1165	c.980T>A	c.(979-981)tTa>tAa	p.L327*	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	327						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAAATTTTTAAAAATTCAAC	0.303000													29	40					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533464	84533464	+	RNA	SNP	C	C	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:84533464C>G	ENST00000527857.1	+	0	3486					NR_026851.1																						AAGACCTTTCCTGTCACCAAT	0.478000													6	3					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692935	135692935	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:135692935G>A	ENST00000513104.1	-	2	423	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRPC7_ENST00000426057.2_Silent_p.F47F|TRPC7_ENST00000355180.3_Silent_p.F47F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	47					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCGAGTCCAGGAAGCGCTCCT	0.602000													86	41					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537585	1537585	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:1537585G>A	ENST00000447419.2	-	2	553	c.528C>T	c.(526-528)ccC>ccT	p.P176P	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.P171P			Q96A99	PTX4_HUMAN	pentraxin 4, long	176						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGTGGGCCACGGGCAGCCGCC	0.721000													16	17					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585863	51585863	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:51585863G>A	ENST00000391802.1	-	3	275	c.57C>T	c.(55-57)ctC>ctT	p.L19L	KLK14_ENST00000156499.2_Silent_p.L19L	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	19					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CTGTCAGCAGGAGGAACATTT	0.537000													33	42					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17088080	17088080	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:17088080C>T	ENST00000377833.4	-	24	3408	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1115	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1115K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATTTTTCATAGCCTCCA	0.323000													41	6					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591238	14591238	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:14591238G>A	ENST00000393033.4	-	6	803	c.534C>T	c.(532-534)atC>atT	p.I178I	GIPC1_ENST00000591349.1_Silent_p.I81I|GIPC1_ENST00000393028.1_Silent_p.I81I|GIPC1_ENST00000345425.2_Silent_p.I178I|GIPC1_ENST00000586027.1_Silent_p.I178I|GIPC1_ENST00000393029.3_Silent_p.I81I	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	178	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TAATGGCCTCGATCATGTCGC	0.662000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	105	39					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548192	99548192	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:99548192G>A	ENST00000550693.2	-	1	332	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ANKS1B_ENST00000546568.1_Missense_Mutation_p.P27S|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P27S|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Missense_Mutation_p.P27S|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P27S|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546960.1_Missense_Mutation_p.P27S|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGATGAAGAGGGAAGCGTTTA	0.537000													25	57					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048296	21048296	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:21048296C>T	ENST00000375031.1	-	9	1633	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	SH2D5_ENST00000444387.2_Missense_Mutation_p.G421S|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	337										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGCCCAGGCCCTGCAGCTCT	0.721000													6	13					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714020	28714020	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:28714020G>T	ENST00000257197.3	-	13	2211	c.1950C>A	c.(1948-1950)gaC>gaA	p.D650E	DSC1_ENST00000257198.5_Missense_Mutation_p.D650E|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	650	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AACCATGCCTGTCTTTTATTT	0.343000													60	91					3.37043e-27	3.49244e-27	1	1	0
ABCC11	85320	broad.mit.edu	37	16	48220888	48220888	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:48220888C>T	ENST00000394747.1	-	21	3396	c.3047G>A	c.(3046-3048)gGa>gAa	p.G1016E	ABCC11_ENST00000394748.1_Missense_Mutation_p.G1016E|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.G1016E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G1016E	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1016	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTCAGTTTTTCCATAGACATG	0.507000													57	72					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085408	143085408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:143085408C>T	ENST00000322764.5	+	6	1465	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	ZYX_ENST00000449423.2_Nonsense_Mutation_p.Q287*|ZYX_ENST00000392910.2_Nonsense_Mutation_p.Q217*	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	374					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GGAGCATCCTCAGAGGCAGAA	0.677000													31	78					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25263064	25263064	+	Silent	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:25263064A>G	ENST00000354189.5	-	15	2099	c.2064T>C	c.(2062-2064)ttT>ttC	p.F688F	CASC1_ENST00000545133.1_Silent_p.F565F|CASC1_ENST00000537577.1_Silent_p.F512F|CASC1_ENST00000395987.3_Silent_p.F630F|CASC1_ENST00000395990.2_Silent_p.F584F|CASC1_ENST00000320267.9_Silent_p.F624F	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	624										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATCATACCTTAAATACGACTT	0.373000													33	26					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154418	2154418	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:2154418G>T	ENST00000416167.2	-	4	1508	c.342C>A	c.(340-342)ttC>ttA	p.F114L	IGF2_ENST00000434045.2_Missense_Mutation_p.F170L|IGF2_ENST00000300632.5_Missense_Mutation_p.F114L|IGF2_ENST00000381406.4_Missense_Mutation_p.F117L|IGF2_ENST00000381395.1_Missense_Mutation_p.F114L|IGF2_ENST00000381389.1_Missense_Mutation_p.F114L|IGF2_ENST00000418738.2_Missense_Mutation_p.F114L|IGF2_ENST00000337883.6_Missense_Mutation_p.F114L|IGF2_ENST00000381392.1_Missense_Mutation_p.F117L			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	114					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGTCATATTGGAAGAACTTGC	0.682000													22	26					3.01185e-09	3.05183e-09	1	1	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) 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)				TGCGGGTCCCGCTGCTGGCAG	0.632000													4	17					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54966623	54966623	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:54966623A>G	ENST00000394636.4	+	2	800	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	IRX5_ENST00000320990.5_Missense_Mutation_p.M155V|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.M89V			P78411	IRX5_HUMAN	iroquois homeobox 5	155					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CATCACCAAGATGACCCTCAC	0.617000													95	127					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113565994	113565994	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr4:113565994C>T	ENST00000509061.1	+	4	493	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F	LARP7_ENST00000344442.5_Missense_Mutation_p.L57F|LARP7_ENST00000324052.6_Missense_Mutation_p.L57F	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	57	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGATAGATTTCTTCGAGAACA	0.343000													47	62					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049952	62049952	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:62049952C>T	ENST00000435607.1	-	1	326	c.250G>A	c.(250-252)Gat>Aat	p.D84N	SCN4A_ENST00000578147.1_Missense_Mutation_p.D84N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	84					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TAGTAGGGATCCAGGTCCTCC	0.592000													9	20					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525994	176525994	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:176525994C>T	ENST00000367662.3	+	2	1700	c.536C>T	c.(535-537)aCc>aTc	p.T179I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T179I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	179					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTTTCACAACCCTGAACGAA	0.582000													78	89					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446857	85446857	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:85446857T>A	ENST00000369663.5	-	8	1707	c.1370A>T	c.(1369-1371)tAt>tTt	p.Y457F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	457					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CACGCCCACATAGGAGGGAGT	0.587000													78	88					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496455	76496455	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr15:76496455G>A	ENST00000388942.3	+	11	1671	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	465						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCTCGCCCGGCCCAGCCCAG	0.647000													78	135					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21919504	21919504	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:21919504A>C	ENST00000240662.2	-	3	773	c.428T>G	c.(427-429)tTt>tGt	p.F143C	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	143						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCTCCCTCCAAACCCAATGGT	0.428000													26	40					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24480663	24480663	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:24480663C>T	ENST00000398319.2	+	21	3427	c.3042C>T	c.(3040-3042)acC>acT	p.T1014T	CABIN1_ENST00000263119.5_Silent_p.T1014T|CABIN1_ENST00000405822.2_Silent_p.T964T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1014					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAATTGCCACCATTGTGCCTC	0.512000													47	137					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333904	37333904	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:37333904G>A	ENST00000262825.5	+	14	2289	c.2072G>A	c.(2071-2073)gGa>gAa	p.G691E	CSF2RB_ENST00000406230.1_Missense_Mutation_p.G691E|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G632E|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G685E	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	685					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGGTGGGAGGACAGGACCAA	0.642000													20	20					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51318911	51318911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:51318911G>A	ENST00000548553.1	+	2	1071	c.90G>A	c.(88-90)tgG>tgA	p.W30*	METTL7A_ENST00000332160.4_Nonsense_Mutation_p.W30*			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	30						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						TGTGGAGCTGGATATGCAAAA	0.473000													70	25					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141336006	141336006	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:141336006C>T	ENST00000231484.3	-	1	2621	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	471	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTTGTTTTCCCGCGTGGAG	0.478000													56	20					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71812989	71812989	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:71812989C>T	ENST00000373545.3	-	29	3520	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	PHKA1_ENST00000373539.3_Missense_Mutation_p.G1087R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G998R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G1070R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1057R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1070					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGATAAAATCCAACTGGAACT	0.428000													65	67					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694529	99694529	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:99694529G>A	ENST00000354649.3	+	2	1257	c.542G>A	c.(541-543)gGg>gAg	p.G181E	NUTM2G_ENST00000372322.3_Missense_Mutation_p.G181E|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		TGGCCACAAGGGGCTCATGGA	0.662000													72	104					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234164	18234164	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:18234164C>T	ENST00000229002.2	-	6	785	c.579G>A	c.(577-579)ttG>ttA	p.L193L	RERGL_ENST00000538724.1_Silent_p.L192L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	193	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CATTATTGATCAATTTGGCCA	0.343000													19	32					0	0	1	0	0
FBXO16	157574	broad.mit.edu	37	8	28321140	28321140	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:28321140G>A	ENST00000380254.2	-	4	479	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	FBXO16_ENST00000346498.2_Missense_Mutation_p.R99C|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.R99C	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	111	F-box.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGCACAACGACAAAGGCTC	0.448000													19	24					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1498827	1498827	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:1498827C>T	ENST00000297508.7	-	1	311	c.136G>A	c.(136-138)Gac>Aac	p.D46N	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	46	CH.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TACATGAGGTCGGGCCGGTGG	0.662000													22	24					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440316	124440316	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:124440316C>T	ENST00000284287.3	+	1	424	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CATGTCACAGCTCTACTTCTT	0.468000													46	16					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22146174	22146174	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:22146174C>T	ENST00000356766.6	+	8	1129	c.981C>T	c.(979-981)ttC>ttT	p.F327F	PIWIL2_ENST00000454009.2_Silent_p.F327F|PIWIL2_ENST00000521356.1_Silent_p.F327F	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	327					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGTTGTTTTCCGTCGGTAAG	0.398000													34	39					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382693	108382693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:108382693G>A	ENST00000265843.4	-	6	3651	c.3541C>T	c.(3541-3543)Caa>Taa	p.Q1181*	EXPH5_ENST00000525344.1_Nonsense_Mutation_p.Q1174*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.Q1105*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.Q993*	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1181					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTTCCTTTTGGTGTTGTCTT	0.418000													38	14					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747275	121747275	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:121747275C>T	ENST00000452319.1	+	14	3845	c.3785C>T	c.(3784-3786)gCc>gTc	p.A1262V	GLI2_ENST00000361492.4_Missense_Mutation_p.A1262V|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1262					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATCAGTGGGGCCCTCAACCAG	0.632000													28	72					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139268748	139268748	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:139268748G>A	ENST00000406875.3	-	13	2874	c.2780C>T	c.(2779-2781)tCc>tTc	p.S927F	HIPK2_ENST00000342645.6_Missense_Mutation_p.S827F|HIPK2_ENST00000428878.2_Missense_Mutation_p.S900F	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	927	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAGGAGTCGGAGTAGGGGGA	0.552000													33	103					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813161	2813161	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:2813161C>T	ENST00000602557.1	-	65	10502	c.9947G>A	c.(9946-9948)aGa>aAa	p.R3316K	CSMD1_ENST00000542608.1_Missense_Mutation_p.R3138K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3315K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3316K|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3139K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3139K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3316	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTACATGTTCTGTGCTCAGA	0.483000													40	54					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731548	94731548	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:94731548C>T	ENST00000335080.5	+	3	1844	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	KDM4D_ENST00000536741.1_Missense_Mutation_p.R338C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	338					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R338C(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCTGTGGAAACGTGGGCAAGA	0.587000													28	16					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530677	47530677	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr14:47530677G>A	ENST00000426342.1	-	7	1152	c.406C>T	c.(406-408)Cct>Tct	p.P136S	MDGA2_ENST00000357362.3_Missense_Mutation_p.P136S|MDGA2_ENST00000439988.2_Missense_Mutation_p.P365S|MDGA2_ENST00000399232.2_Missense_Mutation_p.P434S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	365	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCCTCAGAAGGAACAGCTTCT	0.423000													67	65					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13940856	13940856	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:13940856C>T	ENST00000294489.6	+	5	1001	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PDPN_ENST00000509009.1_Silent_p.F139F|PDPN_ENST00000376061.4_Silent_p.F102F|PDPN_ENST00000513143.1_Silent_p.F102F|PDPN_ENST00000487038.1_Silent_p.F102F|PDPN_ENST00000475043.1_Silent_p.F102F|PDPN_ENST00000376057.4_Silent_p.F220F			Q86YL7	PDPN_HUMAN	podoplanin	144					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCATCGGCTTCATTGGTGCAA	0.448000													50	70					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049622	9049622	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:9049622A>G	ENST00000397910.4	-	5	32212	c.32009T>C	c.(32008-32010)cTg>cCg	p.L10670P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10672	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACTTAGTCAGTGTTGGGAA	0.458000													57	18					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129001248	129001248	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:129001248G>A	ENST00000274487.4	+	16	2609	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	822	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGTTGTGGAGGAAAAGCCGGC	0.433000													12	4					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2903184	2903184	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:2903184G>A	ENST00000161006.3	-	6	929	c.864C>T	c.(862-864)atC>atT	p.I288I	PRSS22_ENST00000571228.1_Silent_p.I178I	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	288	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CCCCTTGCACGATCTTCTCCA	0.736000													27	37					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048255	2048255	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:2048255G>A	ENST00000563630.1	-	12	2770	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V	ZNF598_ENST00000431526.1_Missense_Mutation_p.A898V|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_Missense_Mutation_p.A843V			Q86UK7	ZN598_HUMAN	zinc finger protein 598	898						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTGGCGATGGCTTGCAGGGA	0.682000													127	224					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585862	51585862	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:51585862G>A	ENST00000391802.1	-	3	276	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	KLK14_ENST00000156499.2_Silent_p.L20L	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	20					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GCTGTCAGCAGGAGGAACATT	0.537000													33	41					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714022	28714022	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:28714022C>T	ENST00000257197.3	-	13	2209	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	DSC1_ENST00000257198.5_Missense_Mutation_p.D650N|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	650	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCATGCCTGTCTTTTATTTGA	0.348000													60	88					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066060	9066060	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:9066060A>C	ENST00000397910.4	-	3	21589	c.21386T>G	c.(21385-21387)cTt>cGt	p.L7129R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7131	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGAGAAGTGAAGTCAC	0.512000													70	23					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436054	82436054	+	Silent	SNP	T	T	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:82436054T>G	ENST00000370728.1	+	18	3423	c.2778T>G	c.(2776-2778)gcT>gcG	p.A926A	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Silent_p.A926A|LPHN2_ENST00000319517.6_Silent_p.A913A|LPHN2_ENST00000370721.1_Silent_p.A851A|LPHN2_ENST00000370723.1_Silent_p.A913A|LPHN2_ENST00000370725.1_Silent_p.A926A|LPHN2_ENST00000370727.1_Silent_p.A926A|LPHN2_ENST00000394879.1_Silent_p.A913A|LPHN2_ENST00000359929.3_Silent_p.A913A|LPHN2_ENST00000335786.5_Silent_p.A926A|LPHN2_ENST00000370730.1_Silent_p.A926A|LPHN2_ENST00000271029.4_Silent_p.A926A|LPHN2_ENST00000370713.1_Silent_p.A913A|LPHN2_ENST00000370715.1_Silent_p.A913A			O95490	LPHN2_HUMAN	latrophilin 2	926					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGCTTTTGCTTGGATGTGCC	0.358000													59	24					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34089744	34089744	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:34089744C>T	ENST00000397527.1	+	29	4691	c.3971C>T	c.(3970-3972)tCc>tTc	p.S1324F	CEP250_ENST00000342580.4_Missense_Mutation_p.S1268F	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1324	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACTATGGCATCCTTACAGAGT	0.512000													29	47					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047198	73047198	+	RNA	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:73047198G>A	ENST00000604411.1	+	0	35159				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CAAAGAGAGGGAGATAGATTC	0.393000													28	25					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45281376	45281376	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:45281376C>T	ENST00000313237.5	-	12	1457	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	PHF21B_ENST00000396103.3_Missense_Mutation_p.R394Q|PHF21B_ENST00000403565.1_Missense_Mutation_p.R232Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.R382Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	436							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTCACTGCCTCGTTGCAGCAG	0.637000													18	5					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698321	79698321	+	Missense_Mutation	SNP	G	G	A	rs141007953	byFrequency	TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:79698321G>A	ENST00000538312.1	+	5	617	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	FAM46D_ENST00000308293.5_Missense_Mutation_p.E95K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	95										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCCAGGTAACGAAGAATTTCA	0.388000													29	97					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38942478	38942478	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:38942478C>T	ENST00000355481.4	+	12	1328	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	RYR1_ENST00000359596.3_Silent_p.A399A|RYR1_ENST00000360985.3_Silent_p.A399A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	399					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTCCCAGGCCGCCCGCATGA	0.632000													59	55					0	0	1	0	0
HES6	55502	broad.mit.edu	37	2	239147614	239147614	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:239147614G>A	ENST00000272937.5	-	4	747	c.529C>T	c.(529-531)Cct>Tct	p.P177S	HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Missense_Mutation_p.P175S|HES6_ENST00000409182.1_Missense_Mutation_p.P148S			Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	177					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCGTCCCCAGGACCCGGGGGG	0.731000													7	18					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120770263	120770263	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:120770263G>A	ENST00000310396.5	+	12	1959	c.1492G>A	c.(1492-1494)Gtc>Atc	p.V498I	CPED1_ENST00000423795.1_Missense_Mutation_p.V278I|CPED1_ENST00000450913.2_Missense_Mutation_p.V498I	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TCCTGGCTCAGTCCTGACCCA	0.403000													52	112					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9907235	9907235	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:9907235G>A	ENST00000380913.3	+	8	4230	c.4139_splice	c.e8-1	p.R1380_splice	SHROOM2_ENST00000418909.2_Splice_Site_p.R215_splice	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1380	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTTTACCCAGGAAAGAGGAGC	0.597000													12	17					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85488081	85488081	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr15:85488081C>T	ENST00000394573.1	+	18	2059	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C	SLC28A1_ENST00000286749.3_Silent_p.C619C|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Silent_p.C453C|SLC28A1_ENST00000537624.1_Silent_p.C619C	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	619					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCAGTGCTGCCGTGAGGCCT	0.592000													51	89					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70721869	70721869	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:70721869C>T	ENST00000261776.5	-	19	2571	c.2311G>A	c.(2311-2313)Ggg>Agg	p.G771R	VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Missense_Mutation_p.G203R	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	771					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCCCCACGCCCGCTCCGCTGG	0.632000													21	33					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62135243	62135243	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:62135243G>A	ENST00000433197.2	-	12	1412	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	439					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTAAGCATGGAGTCCACGG	0.587000													24	26					0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78318483	78318483	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr13:78318483G>A	ENST00000466548.1	+	4	792	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000488699.1_Missense_Mutation_p.E114K|SLAIN1_ENST00000418532.1_Missense_Mutation_p.E37K|SLAIN1_ENST00000351546.3_5'UTR|SLAIN1_ENST00000267219.8_Missense_Mutation_p.E37K|SLAIN1_ENST00000358679.3_5'UTR|SLAIN1_ENST00000314070.5_5'UTR	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	256										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		GAGTACTTCAGAATTGGAGGA	0.443000													33	11					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25265592	25265592	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:25265592C>T	ENST00000276440.7	+	49	5231	c.5187C>T	c.(5185-5187)atC>atT	p.I1729I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1729						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAACCGGATCAGCAAGTTTA	0.473000													13	8					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47884605	47884605	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:47884605G>A	ENST00000289672.2	-	33	5275	c.5225C>T	c.(5224-5226)tCc>tTc	p.S1742F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1742					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGTAGCTTGGAAATGTCACT	0.458000													22	31					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603158	53603158	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr13:53603158G>A	ENST00000219022.2	+	1	265	c.187G>A	c.(187-189)Gga>Aga	p.G63R		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	63	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		cTTAGGCAGCGGAGGTTCTGT	0.567000													69	23					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70683860	70683860	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:70683860C>T	ENST00000449580.1	+	39	5736	c.5685C>T	c.(5683-5685)tcC>tcT	p.S1895S	TAF1_ENST00000461764.1_Intron|TAF1_ENST00000423759.1_Silent_p.S1884S|TAF1_ENST00000276072.3_Silent_p.S1882S|TAF1_ENST00000373790.4_Silent_p.S1861S			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1861					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTTCCACTCCATTGCTGGGG	0.567000													8	9					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102505276	102505276	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:102505276A>T	ENST00000413150.2	+	28	3315	c.3260A>T	c.(3259-3261)cAg>cTg	p.Q1087L	MAP4K4_ENST00000350198.4_Missense_Mutation_p.Q1099L|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Q1172L|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Q975L|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Q1253L|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Q1212L|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Q971L|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Q1205L	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1172	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGATCCAATCAGACAATGGGC	0.408000													14	14					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661848	4661848	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:4661848G>C	ENST00000357605.2	+	1	904	c.828G>C	c.(826-828)agG>agC	p.R276S		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGCATAGGCTGGGTGGTC	0.552000													84	116					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222163	55222163	+	RNA	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:55222163C>T	ENST00000413439.1	+	0	1690																											TGTCTCACCCCAGTGACCCCC	0.627000													41	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453655	179453655	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:179453655C>T	ENST00000589042.1	-	304	63021	c.62797G>A	c.(62797-62799)Gaa>Aaa	p.E20933K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19292K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18365K|TTN_ENST00000342175.6_Missense_Mutation_p.E12060K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11993K|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11868K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19292	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATATATTCATTTCCTTCT	0.398000													17	25					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6232955	6232955	+	Silent	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:6232955A>C	ENST00000265978.4	-	12	3100	c.2742T>G	c.(2740-2742)gcT>gcG	p.A914A	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.A900A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	900					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGAGTTGAAGCCCCAGGGG	0.607000													85	111					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18331671	18331671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:18331671G>A	ENST00000377369.2	+	13	2258	c.1985G>A	c.(1984-1986)tGg>tAg	p.W662*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.W528*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.W661*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.W625*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	662					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAACGACCCTGGATGATGTTT	0.368000													36	14					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80634669	80634669	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:80634669C>T	ENST00000369816.4	-	3	669	c.369_splice	c.e3+1	p.R123_splice		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	123					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.R123R(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	ATGTACTTACCCTGACTTCAT	0.303000													29	31					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101304	25101304	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr14:25101304C>T	ENST00000526004.1	-	3	259	c.224G>A	c.(223-225)gGa>gAa	p.G75E	RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382540.1_Silent_p.R75R|GZMB_ENST00000382542.1_Silent_p.R154R|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000216341.4_Silent_p.R120R|GZMB_ENST00000415355.3_Silent_p.R108R			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	205	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CAGCTCTGGTCCGCTTGGCCT	0.632000													28	47					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924449	88924449	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:88924449A>C	ENST00000263321.5	+	2	1401	c.899A>C	c.(898-900)aAt>aCt	p.N300T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	300					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTACGGCGTAATCCTGGAAAC	0.473000													86	34					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	95940190	95940190	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:95940190G>A	ENST00000324765.8	+	1	479		c.e1+1		DIAPH2_ENST00000355827.4_Splice_Site|DIAPH2_ENST00000373061.3_Splice_Site|DIAPH2_ENST00000373054.4_Splice_Site|DIAPH2_ENST00000373049.4_Splice_Site			O60879	DIAP2_HUMAN	diaphanous-related formin 2						cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCCAAATTGGTGAGTGCTCC	0.682000													18	14					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874744	75874744	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr12:75874744C>T	ENST00000266659.3	+	1	285	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	28					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TGCCAGATATCGAAAATGAAG	0.403000													43	53					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357586	70357586	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:70357586C>T	ENST00000333646.6	+	41	6045	c.5846C>T	c.(5845-5847)cCt>cTt	p.P1949L	MED12_ENST00000374080.3_Missense_Mutation_p.P1946L|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.P1945L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1946	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGCTATACTCCTTATGTTTCT	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	42					0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99999343	99999343	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:99999343C>T	ENST00000289371.5	+	14	2432	c.2230C>T	c.(2230-2232)Ctc>Ttc	p.L744F		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	744					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATCAACCTTCTCAAATCTAA	0.348000													17	23					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222794514	222794514	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:222794514C>T	ENST00000344922.5	+	2	172	c.147C>T	c.(145-147)cgC>cgT	p.R49R	MIA3_ENST00000344507.1_Silent_p.R49R|MIA3_ENST00000344441.6_Silent_p.R49R|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	49	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TAATGTACCGCGGTGAGGCTC	0.363000													17	26					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086976	55086976	+	Silent	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:55086976C>A	ENST00000251377.3	+	6	1042	c.909C>A	c.(907-909)tcC>tcA	p.S303S	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Silent_p.S303S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.S291S|LILRA2_ENST00000251376.3_Silent_p.S303S					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S303S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCTCTCCTCCGAGTGGTCGG	0.672000													53	79					1.0442e-30	1.09188e-30	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183094807	183094807	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:183094807G>A	ENST00000435564.1	-	6	849	c.649C>T	c.(649-651)Cca>Tca	p.P217S	PDE1A_ENST00000456212.1_Missense_Mutation_p.P217S|PDE1A_ENST00000351439.5_Missense_Mutation_p.P201S|PDE1A_ENST00000331935.6_Missense_Mutation_p.P217S|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.P183S|PDE1A_ENST00000410103.1_Missense_Mutation_p.P217S|PDE1A_ENST00000536095.1_Missense_Mutation_p.P113S|PDE1A_ENST00000409365.1_Missense_Mutation_p.P201S|PDE1A_ENST00000358139.2_Missense_Mutation_p.P217S	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	217	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGTGATATGGATTTTTGTAC	0.343000													43	68					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140982	104140982	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:104140982C>T	ENST00000369983.3	+	39	5529	c.5269C>T	c.(5269-5271)Cca>Tca	p.P1757S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1757	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCCACCGCCCCCAGAGATTCC	0.627000													30	10					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123166368	123166368	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:123166368T>A	ENST00000349780.4	-	33	5166	c.4987A>T	c.(4987-4989)Agt>Tgt	p.S1663C	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1584C|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1622C|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1631C	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1663					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAATTATCACTTTCCATGGGA	0.408000													39	6					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173659879	173659879	+	Silent	SNP	G	G	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:173659879G>C	ENST00000264111.6	+	2	379	c.192G>C	c.(190-192)ctG>ctC	p.L64L	RAPGEF4_ENST00000409036.1_Silent_p.L64L|RAPGEF4_ENST00000397081.3_Silent_p.L64L			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	64					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGAGAATCTGGAAAAGGGAA	0.328000													10	159					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870646	101870646	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:101870646G>A	ENST00000360264.3	+	21	3183		c.e21-1		CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Splice_Site|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000556210.1_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Splice_Site	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTTAATTACAGAAAGCACTCC	0.512000													119	174					0	0	1	0	0
FKBP1A	2280	broad.mit.edu	37	20	1356212	1356212	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:1356212G>A	ENST00000400137.4	-	3	284	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Missense_Mutation_p.R25W|FKBP1A_ENST00000381719.3_Missense_Mutation_p.R41W|FKBP1A_ENST00000381724.3_Missense_Mutation_p.R36W|FKBP1A_ENST00000381715.1_Missense_Mutation_p.R36W	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	41	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	TTTCTGTCCCGGGAGGAATCA	0.463000													22	3					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232551	96232551	+	Nonsense_Mutation	SNP	G	G	A	rs144069129		TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:96232551G>A	ENST00000437043.3	+	9	2198	c.1487G>A	c.(1486-1488)tGg>tAg	p.W496*	ERAP2_ENST00000379904.4_Nonsense_Mutation_p.W451*|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	496					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GATGACTTGTGGAGCAGTCTG	0.318000													43	20					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823529	97823529	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:97823529C>T	ENST00000297293.5	+	11	4045	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1251					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCCAGCCACTCCGAGGGCCCG	0.612000													24	34					0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997501	30997501	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:30997501A>G	ENST00000262520.6	+	3	588	c.298A>G	c.(298-300)Acc>Gcc	p.T100A	AC135048.1_ENST00000602217.1_Silent_p.G11G|HSD3B7_ENST00000297679.5_Missense_Mutation_p.T100A|HSD3B7_ENST00000353250.5_Missense_Mutation_p.T100A	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	100					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGTCCCAAGACCATCCATGA	0.617000													21	28					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128178923	128178923	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:128178923C>T	ENST00000453608.2	+	3	206	c.198C>T	c.(196-198)tcC>tcT	p.S66S	PROC_ENST00000409048.1_Silent_p.S45S|PROC_ENST00000234071.3_Silent_p.S45S|PROC_ENST00000422777.3_Silent_p.S45S			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	45	Gla.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGCCAACTCCTTCCTGGAGG	0.577000													40	87					0	0	1	0	0
CCL4	6351	broad.mit.edu	37	17	34432694	34432694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:34432694G>A	ENST00000394495.1	+	2	232	c.153G>A	c.(151-153)tgG>tgA	p.W51*	CCL4_ENST00000250151.4_Missense_Mutation_p.E90K			P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	0					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTATGACCTGGAACTGAACTG	0.512000													58	23					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900476	123900476	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:123900476G>A	ENST00000431524.1	+	1	180	c.147G>A	c.(145-147)gtG>gtA	p.V49V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGATCAGGGTGGATTCTCACC	0.557000													89	35					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304265	55304265	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:55304265C>T	ENST00000398661.2	-	9	1109	c.978G>A	c.(976-978)ttG>ttA	p.L326L	HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000274901.4_Silent_p.L296L|HMGCLL1_ENST00000370850.2_Silent_p.L193L|HMGCLL1_ENST00000308161.4_Silent_p.L264L|HMGCLL1_ENST00000508459.1_Silent_p.L130L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	326							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCATATATATCAAATCCTCAG	0.418000													43	63					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136327	74136327	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:74136327G>A	ENST00000322957.6	-	2	504	c.150C>T	c.(148-150)ccC>ccT	p.P50P		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	50					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756000													12	12					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844183	5844183	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:5844183C>T	ENST00000303225.6	-	3	1302	c.668G>A	c.(667-669)gGa>gAa	p.G223E	FUT3_ENST00000589918.1_Missense_Mutation_p.G223E|FUT3_ENST00000458379.2_Missense_Mutation_p.G223E|FUT3_ENST00000589620.1_Missense_Mutation_p.G223E	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	223			G -> R (in Le(-); dbSNP:rs28362466).		protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGGAGCGTCCGTACACGTC	0.622000													73	24					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724786	138724786	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr3:138724786C>T	ENST00000383163.2	-	1	324	c.325G>A	c.(325-327)Gac>Aac	p.D109N	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	109										endometrium(3)|kidney(1)|lung(7)	11						GAGCGTTCGTCGACAGAGCTC	0.617000													19	6					0	0	1	0	0
MVB12A	93343	broad.mit.edu	37	19	17534839	17534839	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:17534839T>C	ENST00000317040.7	+	7	1720	c.665T>C	c.(664-666)cTc>cCc	p.L222P	MVB12A_ENST00000543795.1_Missense_Mutation_p.L222P|MVB12A_ENST00000528515.1_Missense_Mutation_p.S180P|MVB12A_ENST00000392702.2_Missense_Mutation_p.L182P|MVB12A_ENST00000529939.1_Missense_Mutation_p.L222P					multivesicular body subunit 12A																		CCCTTCACACTCCACCCACGA	0.632000													57	17					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134628087	134628087	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:134628087C>A	ENST00000368586.5	-	53	7379	c.7279G>T	c.(7279-7281)Ggc>Tgc	p.G2427C	TTC40_ENST00000263170.5_Missense_Mutation_p.G588C	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	588										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCACCTGGGCCCTGGGCCTCC	0.692000													2	0					0.0784	0.0784	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60813798	60813798	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:60813798C>T	ENST00000544856.2	-	7	1806	c.1428G>A	c.(1426-1428)atG>atA	p.M476I	MARCH10_ENST00000456609.2_Missense_Mutation_p.M477I|MARCH10_ENST00000583600.1_Missense_Mutation_p.M515I|MARCH10_ENST00000311269.5_Missense_Mutation_p.M477I|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	477							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GAGCAGAATGCATGAATGATG	0.408000													72	103					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872939	51872939	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:51872939C>T	ENST00000371497.5	+	2	3829	c.2942C>T	c.(2941-2943)cCa>cTa	p.P981L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P978L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P978L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	981					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAGAGGTCTCCAGAAACAATA	0.502000													33	55					0	0	1	0	0
SLC25A1	6576	broad.mit.edu	37	22	19163956	19163956	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:19163956G>C	ENST00000215882.5	-	8	955	c.799C>G	c.(799-801)Ctg>Gtg	p.L267V	SLC25A1_ENST00000451283.1_Missense_Mutation_p.L164V	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	267					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TCCTTCTTCAGGATCTGCAAG	0.642000													12	200					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	180001196	180001196	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:180001196G>A	ENST00000393356.1	+	14	2094	c.1670G>A	c.(1669-1671)aGg>aAg	p.R557K	CNOT6_ENST00000261951.4_Missense_Mutation_p.R557K			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	557					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CCTGGCAGGAGGTAGTCAAGC	0.507000													42	12					0	0	1	0	0
FAR2P3	100288897	broad.mit.edu	37	2	131459994	131459994	+	RNA	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:131459994A>C	ENST00000425151.1	+	0	521																											CATTGGAAGGAAACCCAGGTG	0.478000													3	7					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823530	97823530	+	Silent	SNP	C	C	T	rs148048560	byFrequency	TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:97823530C>T	ENST00000297293.5	+	11	4046	c.3753C>T	c.(3751-3753)tcC>tcT	p.S1251S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1251					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAGCCACTCCGAGGGCCCGA	0.612000													22	34					0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112424013	112424013	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:112424013G>A	ENST00000312814.5	-	2	1428	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	TMEM168_ENST00000454074.1_Missense_Mutation_p.L290F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	290						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAATACCAGAGGTGAGTGTCT	0.343000													146	416					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64132850	64132850	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr3:64132850G>A	ENST00000295902.6	-	7	1901	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P495L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	439						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCACATTTCGGGCTGGGCCCC	0.572000													73	26					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39441509	39441509	+	Silent	SNP	T	T	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:39441509T>C	ENST00000308521.5	+	4	885	c.528T>C	c.(526-528)aaT>aaC	p.N176N	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	181					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TCGATGACAATTATGCATTCC	0.512000													223	478					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408878	50408878	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:50408878G>A	ENST00000217086.4	-	2	255	c.144C>T	c.(142-144)aaC>aaT	p.N48N	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.N48N	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	48					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCCTGGGTGGTTCACTGGAG	0.542000													35	60					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726438	12726438	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:12726438C>T	ENST00000376221.1	+	4	916	c.916C>T	c.(916-918)Cct>Tct	p.P306S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	306						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTCTCCCGGCCCTTTTAATGA	0.502000													76	114					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54483276	54483276	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:54483276C>T	ENST00000317802.7	-	1	133	c.13G>A	c.(13-15)Gag>Aag	p.E5K	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	5					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGAGGACTCTCCGGGAGGCTC	0.592000													51	113					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808797	77808797	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:77808797G>A	ENST00000269397.4	-	5	821	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	215	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCGCACCGGCCAGGGGCTT	0.721000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	43					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274831	74274831	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:74274831C>T	ENST00000409262.3	+	1	1382	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	461							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGAAAGCTGCCCCTGGGATC	0.592000													16	23					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029984	79029984	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:79029984C>T	ENST00000446378.2	+	2	5427	c.5396C>T	c.(5395-5397)tCa>tTa	p.S1799L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1799						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACCCAAATTCATCCCAGGTA	0.393000													66	16					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156727	146156727	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:146156727G>A	ENST00000276816.4	-	4	1632	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	ZNF16_ENST00000394909.2_Silent_p.I482I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTCCCGTGTGGATGATCTGGT	0.527000													61	87					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	180001197	180001197	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr5:180001197G>A	ENST00000393356.1	+	14	2095	c.1671G>A	c.(1669-1671)agG>agA	p.R557R	CNOT6_ENST00000261951.4_Silent_p.R557R			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	557					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTGGCAGGAGGTAGTCAAGCA	0.502000													42	13					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169789040	169789040	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:169789040C>T	ENST00000263817.6	-	24	3184	c.3060G>A	c.(3058-3060)gtG>gtA	p.V1020V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1020	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGCAGAGATCACCCTGTAAC	0.498000													12	22					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101148006	101148006	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr10:101148006G>A	ENST00000356713.4	+	9	2911	c.2622G>A	c.(2620-2622)gaG>gaA	p.E874E	CNNM1_ENST00000370534.4_Silent_p.E530E|CNNM1_ENST00000446890.1_Silent_p.E803E|CNNM1_ENST00000370528.3_Intron	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	874					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACTTCGAGGAGCACAGCACAC	0.617000													6	40					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64140100	64140100	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:64140100G>T	ENST00000545618.1	-	4	807	c.244C>A	c.(244-246)Cta>Ata	p.L82I	ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.L87I|ZC4H2_ENST00000337990.2_Missense_Mutation_p.L64I|ZC4H2_ENST00000447788.2_Missense_Mutation_p.L87I			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	87							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGCTTGTTTAGGTCATTCTCA	0.463000													81	71					9.35349e-44	9.87073e-44	1	1	0
KLHDC2	23588	broad.mit.edu	37	14	50244647	50244647	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr14:50244647C>T	ENST00000298307.5	+	4	1303	c.442C>T	c.(442-444)Ctt>Ttt	p.L148F	KLHDC2_ENST00000557247.1_Missense_Mutation_p.L148F|KLHDC2_ENST00000554589.1_Missense_Mutation_p.L148F|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	148						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AAAGGACAAACTTGGTGTCTG	0.403000													42	50					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38925171	38925171	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:38925171C>T	ENST00000335552.4	-	6	1195	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	383	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATGTCAATTTCTTTTTCTAAA	0.343000													11	7					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20838313	20838313	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:20838313A>C	ENST00000402541.1	-	4	520	c.506T>G	c.(505-507)tTt>tGt	p.F169C	HS1BP3_ENST00000304031.3_Missense_Mutation_p.F169C			Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	169					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTCAAAAAAGTCGAAAGC	0.587000													39	43					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17167260	17167260	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:17167260G>A	ENST00000265970.7	-	7	1658	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	PIK3C2A_ENST00000540361.1_Silent_p.L173L|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	553					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAGAATCTAAGAGTTCTTCAA	0.343000													50	71					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392370	60392370	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:60392370G>A	ENST00000371204.3	-	1	92	c.49C>T	c.(49-51)Cat>Tat	p.H17Y		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	17					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GTCCGAGGATGGACCACTGCC	0.662000													17	42					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090623	111090623	+	Missense_Mutation	SNP	G	G	T	rs3027720	byFrequency	TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:111090623G>T	ENST00000262839.2	-	6	2337	c.1419C>A	c.(1417-1419)caC>caA	p.H473Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	473					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAGAGTCGGGTGCCACATTT	0.453000													18	78					1.01871e-10	1.03682e-10	1	1	0
TTC6	319089	broad.mit.edu	37	14	38295414	38295414	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr14:38295414C>T	ENST00000553443.1	+	28	4989	c.4989C>T	c.(4987-4989)ttC>ttT	p.F1663F	TTC6_ENST00000267368.7_Silent_p.F297F|TTC6_ENST00000476979.1_Silent_p.F297F|TTC6_ENST00000382320.3_Silent_p.F377F					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AAGGAAAATTCCAGAAAGCTT	0.378000													48	64					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250982	142250982	+	RNA	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:142250982C>T	ENST00000390360.3	-	0	85																											CTGGGTGATCCCAGCAGTCAC	0.527000													42	131					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50659567	50659567	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:50659567G>A	ENST00000371824.1	+	4	742	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	ELAVL4_ENST00000371823.4_Missense_Mutation_p.R162Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.R167Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.R162Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.R167Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.R165Q|ELAVL4_ENST00000357083.4_Missense_Mutation_p.R179Q			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	162	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						ATCACCTCACGAATCCTGGTT	0.443000													87	109					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41031173	41031173	+	Missense_Mutation	SNP	G	G	C			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:41031173G>C	ENST00000324545.7	+	21	3743	c.3110G>C	c.(3109-3111)aGa>aCa	p.R1037T	USP9X_ENST00000378308.2_Missense_Mutation_p.R1037T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1037					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCACCCCTTAGAGATGGAGCA	0.368000													8	154					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13669433	13669433	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr3:13669433G>A	ENST00000404922.3	+	11	2652	c.2533G>A	c.(2533-2535)Gat>Aat	p.D845N	FBLN2_ENST00000535798.1_Missense_Mutation_p.D824N|FBLN2_ENST00000492059.1_Missense_Mutation_p.D845N|FBLN2_ENST00000295760.7_Missense_Mutation_p.D798N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	845	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCTGCATGGATGGCTTCCT	0.637000													92	36					0	0	1	0	0
LOC401242	401242	broad.mit.edu	37	6	28829509	28829509	+	RNA	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr6:28829509C>T	ENST00000440244.1	-	0	350					NR_033379.1																						CCACCGATTCCCTGCAGGCCA	0.577000													13	19					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125827633	125827633	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:125827633C>T	ENST00000373647.4	+	14	1935	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	601	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACAGGAGTCTCCCCAGGACAG	0.408000													66	29					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46858364	46858364	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:46858364G>A	ENST00000269445.6	-	8	1090	c.633C>T	c.(631-633)acC>acT	p.T211T	DYM_ENST00000578396.1_Silent_p.T56T|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	211						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CAAGTTTGCTGGTGTATGGAA	0.383000													25	45					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149720	50149720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:50149720C>T	ENST00000451037.2	-	2	1035	c.95G>A	c.(94-96)tGg>tAg	p.W32*	CA10_ENST00000442502.2_Nonsense_Mutation_p.W32*|CA10_ENST00000340813.6_Nonsense_Mutation_p.W38*|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000285273.4_Nonsense_Mutation_p.W32*	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	32					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTATGCCCACCAGCCTTCATG	0.403000													41	71					0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55049988	55049988	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr8:55049988G>A	ENST00000260102.4	+	3	498	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	142					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CCAGCTGGTTGAGGAGGTAAG	0.448000													38	64					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772553	33772553	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr17:33772553G>A	ENST00000285013.6	-	3	422	c.147C>T	c.(145-147)gcC>gcT	p.A49A	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Silent_p.A49A|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.A49A|SLFN13_ENST00000526861.1_Silent_p.A49A	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	49						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCACACGCGGCCCGTATAA	0.483000													16	129					0	0	1	0	0
FKBP1A	2280	broad.mit.edu	37	20	1356213	1356213	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr20:1356213G>A	ENST00000400137.4	-	3	283	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000439640.2_Silent_p.S24S|FKBP1A_ENST00000381719.3_Silent_p.S40S|FKBP1A_ENST00000381724.3_Silent_p.S35S|FKBP1A_ENST00000381715.1_Silent_p.S35S	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	40	PPIase FKBP-type.				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	TTCTGTCCCGGGAGGAATCAA	0.468000													21	3					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60392371	60392371	+	Silent	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:60392371G>A	ENST00000371204.3	-	1	91	c.48C>T	c.(46-48)gtC>gtT	p.V16V		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	16					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TCCGAGGATGGACCACTGCCC	0.662000													17	42					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46918403	46918403	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:46918403C>T	ENST00000218343.4	+	11	2694	c.2396C>T	c.(2395-2397)cCt>cTt	p.P799L	PHF16_ENST00000397189.1_Missense_Mutation_p.P799L	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		799					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGGGAAAATCCTCCCCATGAC	0.458000													19	51					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869653	4869653	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:4869653C>T	ENST00000322101.2	-	1	861	c.786G>A	c.(784-786)atG>atA	p.M262I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGAGGATCATAGGGATAT	0.502000													47	94					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118104192	118104192	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:118104192G>A	ENST00000278949.4	-	5	719	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	MPZL3_ENST00000527472.1_Missense_Mutation_p.R210C|MPZL3_ENST00000525386.1_Silent_p.S40S			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	222					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCAGCGCAACGGACACAAAGC	0.488000													28	7					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967516	48967516	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:48967516C>T	ENST00000391884.1	+	2	1269	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R265C			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	265						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCACCGATCGTATCTTCCT	0.607000													15	35					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094385	150094385	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:150094385C>T	ENST00000329630.5	+	3	923	c.816C>T	c.(814-816)ccC>ccT	p.P272P		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		tctccggccccgaggggccgg	0.756000													16	13					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381424	49381424	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:49381424G>A	ENST00000406846.2	-	1	252	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	FSHR_ENST00000346173.3_Missense_Mutation_p.P45S|FSHR_ENST00000304421.4_Missense_Mutation_p.P45S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	45	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCATTCCTCGGGAGGTCAGAA	0.478000									Gonadal Dysgenesis, 46 XX				26	37					0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219093493	219093493	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:219093493C>T	ENST00000295685.10	+	3	403	c.142C>T	c.(142-144)Cct>Tct	p.P48S	ARPC2_ENST00000315717.5_Missense_Mutation_p.P48S	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	48					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TATTTCAAATCCTAATGGAGA	0.393000													33	52					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992790	72992790	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr16:72992790G>A	ENST00000268489.5	-	2	1927	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	419					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCCCCAGGGGGACTGAGGTA	0.632000													95	170					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779437	205779437	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:205779437C>A	ENST00000367137.3	-	2	1147	c.133G>T	c.(133-135)Gct>Tct	p.A45S		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	45						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCTACCCCAGCCCCATCAGGC	0.637000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	88					2.12542e-12	2.17286e-12	1	1	0
PPP6R2	9701	broad.mit.edu	37	22	50882654	50882654	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:50882654C>A	ENST00000359139.3	+	23	3170	c.2776C>A	c.(2776-2778)Ctg>Atg	p.L926M	PPP6R2_ENST00000216061.5_Missense_Mutation_p.A960D|PPP6R2_ENST00000395741.3_Missense_Mutation_p.A927D|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A926D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	0						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CCAGAAGGAGCTGCCTTAAAT	0.627000													43	97					1.21353e-23	1.2518e-23	1	1	0
MS4A1	931	broad.mit.edu	37	11	60230489	60230489	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr11:60230489G>A	ENST00000534668.1	+	3	463	c.174G>A	c.(172-174)atG>atA	p.M58I	MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.M58I|MS4A1_ENST00000532073.1_Missense_Mutation_p.M58I|MS4A1_ENST00000345732.4_Missense_Mutation_p.M58I|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	58					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCAGATTATGAATGGGCTCT	0.547000													75	23					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918155	51918155	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:51918155A>G	ENST00000356298.5	-	8	1654	c.1538T>C	c.(1537-1539)cTc>cCc	p.L513P	SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L455P|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.L513P	NM_033130.4	NP_149121.2	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	513					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCGGAGCTGAGCCCTCCATG	0.682000													34	109					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885575	43885575	+	Silent	SNP	C	C	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr1:43885575C>T	ENST00000562955.1	+	8	1050	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	350						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTATTCCTTCCTGCGCAGTG	0.552000													84	142					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018527	23018527	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:23018527G>A	ENST00000327968.5	+	1	441	c.353G>A	c.(352-354)aGc>aAc	p.S118N	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	118						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAACAAGAAAGCTACAACTCA	0.403000													90	74					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48956355	48956356	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr2:48956355_48956356delTG	ENST00000294954.7	-	3	265_266	c.244_245delCA	c.(244-246)gfs	p.Q82fs	LHCGR_ENST00000405626.1_Frame_Shift_Del_p.Q82fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.Q82fs|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.Q82fs|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.Q82fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	82					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GGAATCAATCTGAGAGATTTCA	0.416													15	172	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22729654	22729655	+	RNA	INS	-	-	T			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr4:22729654_22729655insT	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTTCCCCTGAGTTTTTTTTTCT	0.342													2	4	---	---	---	---					
TRBV7-8	28590	broad.mit.edu	37	7	142099805	142099806	+	RNA	DEL	AC	AC	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr7:142099805_142099806delAC	ENST00000390359.3	-	0	88																											TAGTCATcatacacacacacac	0.441													9	128	---	---	---	---					
SNORA26	677810	broad.mit.edu	37	9	89875500	89875500	+	RNA	DEL	A	A	-	rs142686931		TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr9:89875500delA	ENST00000391119.1	+	0	136																											GAGCCACAGCaaaaaaaaaaa	0.363													2	4	---	---	---	---					
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1060-1065)ggaaaafs	p.GK354fs	RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	354					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination					8	119	---	---	---	---					
BCL3	602	broad.mit.edu	37	19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr19:45262726delC	ENST00000164227.5	+	9	1463	c.1219delC	c.(1219-1221)ccfs	p.P408fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCCCAGTCTCCCCCCAGGGA	0.627			T	IGH@	CLL								7	873	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcg>gc	p.AL139del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	139	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													8	277	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418													7	320	---	---	---	---					
SRRM1P3	100130190	broad.mit.edu	37	X	136066760	136066767	+	RNA	DEL	TTTGGTGG	TTTGGTGG	-			TCGA-BF-A5EP-01A-12D-A27K-08	TCGA-BF-A5EP-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5da1ae-377a-4592-9f0b-75473ee097e0	e56b0147-3c79-4ced-abba-56aa27022d30	g.chrX:136066760_136066767delTTTGGTGG	ENST00000424306.1	+	0	2052																											GGGAGGCTTCTTTGGTGGTGACCGGGAA	0.490													11	49	---	---	---	---					
