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
KIFC1	3833	broad.mit.edu	37	6	33371611	33371611	+	Missense_Mutation	SNP	G	G	A	rs146314962		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:33371611G>A	ENST00000428849.2	+	6	911	c.461G>A	c.(460-462)cGt>cAt	p.R154H	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	154					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AAACGGTGCCGTGAGAGGACT	0.552000													14	203					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089133	57089133	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:57089133A>T	ENST00000330619.8	+	6	2022	c.1336A>T	c.(1336-1338)Att>Ttt	p.I446F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.I446F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACATCAGAGAATTCATACAGG	0.418000													5	109					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6209463	6209463	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:6209463C>G	ENST00000262450.3	-	8	1103	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	335					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATAGCCGTCACCATCATCAAC	0.582000													15	21					0	0	1	0	0
STXBP6	0	broad.mit.edu	37	14	25325252	25325252	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:25325252C>T	ENST00000323944.5	-	4	792	c.341G>A	c.(340-342)aGc>aAc	p.S114N	STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N|STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	114					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGACGCTGTGCTGGCTACCCA	0.423000													4	57					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357197	36357197	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:36357197C>G	ENST00000360202.5	+	15	2128	c.1930C>G	c.(1930-1932)Cca>Gca	p.P644A	KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Missense_Mutation_p.P624A|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P609A|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	644	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTTCAACCCACACCTGGG	0.622000													6	141					0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38095663	38095663	+	Silent	SNP	G	G	A	rs149994413	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:38095663G>A	ENST00000397166.2	+	5	1083	c.558G>A	c.(556-558)acG>acA	p.T186T	DDHD2_ENST00000520272.2_Silent_p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	186			T -> M (in dbSNP:rs2306899).		lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CAACACCCACGGAGCAGGGTC	0.408000													20	7					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144855783	144855783	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:144855783G>A	ENST00000369359.4	-	44	7216	c.7178C>T	c.(7177-7179)gCg>gTg	p.A2393V	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2257					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.A2257V(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGCAGGGCCGCTCTCCAGAA	0.572000			T	PDGFRB	MPD								6	69					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390250	37390250	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:37390250C>T	ENST00000338564.5	-	3	609	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A55T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000219869.9_5'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	55					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGTGCGGGGCGTGCGCGCCG	0.667000													36	7					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128003021	128003021	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:128003021C>T	ENST00000324460.6	-	2	491	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	96					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CGATGAGCCGCTTGGCGTCAA	0.567000										Prostate(1;0.17)			34	63					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267643	150267643	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267643A>C	ENST00000367351.3	+	3	558	c.485A>C	c.(484-486)cAt>cCt	p.H162P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	162	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACAACGGTTCATCCTGGAGCC	0.473000													32	182					0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50838720	50838720	+	Translation_Start_Site	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:50838720C>A	ENST00000532404.1	-	1	176	c.3G>T	c.(1-3)atG>atT	p.M1I	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	1					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GCTGAGAAGTCATTTTAATGG	0.443000													23	7					1.10513e-12	1.26588e-12	1	1	0
MUC4	4585	broad.mit.edu	37	3	195510912	195510912	+	Silent	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195510912T>A	ENST00000463781.3	-	2	7998	c.7539A>T	c.(7537-7539)ctA>ctT	p.L2513L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.L2513L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	272					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGACAGGTAGAGGGGTGG	0.562000													3	10					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64873902	64873902	+	Splice_Site	SNP	G	G	A	rs56196591	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:64873902G>A	ENST00000331710.5	+	7	1151	c.812_splice	c.e7+1	p.R271_splice		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	271	Protein kinase.		R -> Q (in dbSNP:rs56196591).		I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGTCTTTCTCGGTAAGTATGG	0.398000													14	36					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773451	52773451	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:52773451C>A	ENST00000360540.5	-	3	667	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.L87L	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	87						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCACTTCCCAGGTTAAGAA	0.333000													28	84					4.74835e-14	5.48892e-14	1	1	0
OGT	8473	broad.mit.edu	37	X	70784520	70784520	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:70784520G>A	ENST00000373719.3	+	19	2723	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	OGT_ENST00000373701.3_Missense_Mutation_p.G826R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	836					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTCAGTACGGGTTACCAGA	0.398000													12	16					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:48511046C>A	ENST00000446524.1	+	1	778	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433000													12	166					0.000978159	0.0010534	1	1	0
P2RX3	5024	broad.mit.edu	37	11	57114099	57114099	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:57114099C>T	ENST00000263314.2	+	2	235	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	67					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TGAAGGGCTCCGGACTCTACG	0.557000													4	65					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954317	95954317	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:95954317T>C	ENST00000317620.9	+	22	2554	c.2421T>C	c.(2419-2421)cgT>cgC	p.R807R	PROM2_ENST00000317668.4_Silent_p.R807R|PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000542147.1_Silent_p.R758R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	807						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATACTTCCGTCCTATCCGGA	0.602000													6	127					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237586402	237586402	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237586402A>T	ENST00000366574.2	+	12	1176	c.859A>T	c.(859-861)Agc>Tgc	p.S287C	RYR2_ENST00000360064.6_Missense_Mutation_p.S285C|RYR2_ENST00000542537.1_Missense_Mutation_p.S271C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	287	MIR 4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S285G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGGAGTGGAAGCCACATAAG	0.423000													4	131					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193188759	193188759	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:193188759G>T	ENST00000342695.4	-	9	1154	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCAGGACGCGTGATTCCAGC	0.443000													29	220					1.13719e-10	1.29086e-10	1	1	0
CPA6	57094	broad.mit.edu	37	8	68397009	68397009	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:68397009T>G	ENST00000297770.4	-	7	867	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q|CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	218					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGGTCACTCTTATATGTTAGA	0.353000													7	87					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100355878	100355878	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:100355878C>T	ENST00000542585.1	+	0	3511				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCTGGCCCGGCAGTCGGG	0.587000													10	36					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529829	161529829	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:161529829A>C	ENST00000392142.4	+	22	4322	c.4174A>C	c.(4174-4176)Aaa>Caa	p.K1392Q	MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1392	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGACGAATTGAAAATATTCGA	0.408000													82	77					0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142432356	142432356	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:142432356C>T	ENST00000520105.1	+	2	959	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000521578.1_Missense_Mutation_p.R6C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	6						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TCGGATGAACCGCCCGGCCCC	0.642000													32	186					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10906831	10906831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10906831G>C	ENST00000359692.6	+	10	1441	c.1291G>C	c.(1291-1293)Gtt>Ctt	p.V431L	DNM2_ENST00000389253.4_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000355667.6_Missense_Mutation_p.V431L|DNM2_ENST00000314646.5_Intron	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	431					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGTCGACCTGGTTATCCAGGA	0.532000			"""F, N, Splice, Mis, O"""		ETP ALL								38	133					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152658	117152658	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:117152658C>T	ENST00000530849.1	+	10	929	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RNF214_ENST00000531287.1_Missense_Mutation_p.R307W|RNF214_ENST00000531452.1_Missense_Mutation_p.R462W|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W|RNF214_ENST00000524917.1_Intron			Q8ND24	RN214_HUMAN	ring finger protein 214	462							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTGGCTCCTCGGATGCCCTT	0.527000													72	113					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66525567	66525567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:66525567G>T	ENST00000276569.3	-	4	621	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	126					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCTTCGACGTGAATTCATCTC	0.398000													27	100					4.7796e-09	5.37705e-09	1	1	0
RP1-274L7.1	0	broad.mit.edu	37	X	129629216	129629216	+	RNA	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:129629216G>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							AAGTTCTGTGGGTGTGGTGTT	0.532000													11	48					0.00316338	0.00334946	1	1	0
NR3C2	0	broad.mit.edu	37	4	149357868	149357868	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr4:149357868T>C	ENST00000355292.3	-	2	507	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000358102.3_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G|NR3C2_ENST00000342437.4_Missense_Mutation_p.S49G			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	49	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GAAACACAGCTTACGTTGACA	0.483000													19	44					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362947	128362947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:128362947C>G	ENST00000262462.4	+	7	2387	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*	SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	459					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAGATGTTTACCTTAATACTG	0.388000													21	60					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:101576467G>T	ENST00000310954.6	-	11	2117	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338000													26	30					2.61193e-14	3.07573e-14	1	1	0
MMP25	64386	broad.mit.edu	37	16	3107185	3107185	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:3107185C>G	ENST00000336577.4	+	5	1050	c.813C>G	c.(811-813)gaC>gaG	p.D271E	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	271					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTCAGGATGACCGCGATGGCC	0.642000													16	225					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331426	55331426	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:55331426A>T	ENST00000391728.4	+	4	647	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCCCCTATCAGTTGTCAGCT	0.522000													27	173					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138685	126138685	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:126138685T>C	ENST00000299308.3	+	9	2674	c.2666T>C	c.(2665-2667)gTg>gCg	p.V889A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	889						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTCACAGTGACCTCAAGG	0.507000													8	92					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3958	3958	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrM:3958G>A	ENST00000361390.2	+	1	652	c.652G>A	c.(652-654)Ggc>Agc	p.218_218insS						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						AATACGCCGCAGGCCCCTTCG	0.473000													9	68					0	0	1	0	0
SVILP1	0	broad.mit.edu	37	10	30986359	30986359	+	RNA	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:30986359G>T	ENST00000435645.1	+	0	349																											GCGCTCAATAGTGGGGACTGC	0.552000													4	42					5.9392e-07	6.62247e-07	1	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													4	21					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415320	77415320	+	Silent	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:77415320C>G	ENST00000451710.3	-	17	2325	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000360774.1_Silent_p.T696T|TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000376864.4_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	696					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGTTCATACGTCAACAGCG	0.512000													12	34					0	0	1	0	0
ALG1L13P	0	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													6	4					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29450452	29450452	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:29450452G>A	ENST00000389048.3	-	17	3808	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTTAAAGCTGGGGTGTACAGG	0.517000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				17	113					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119027213	119027213	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:119027213C>A	ENST00000298472.5	+	13	1295	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	384					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTATGGACTCATAGCTCCGA	0.373000													3	10					1	1	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27803080	27803080	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:27803080C>T	ENST00000408964.2	+	1	3692	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1214										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTACTTCCACAATAGATTTG	0.463000													34	67					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90026330	90026330	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:90026330C>T	ENST00000268122.4	-	3	558	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	164					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AACTCATTCACAGCGAAGAGG	0.542000													4	7					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14070448	14070448	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14070448G>A	ENST00000254337.6	+	8	1295	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	425										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTTCGTGGCCGCAACCTGCGG	0.697000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	255					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216672	3216672	+	Splice_Site	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:3216672A>C	ENST00000602557.1	-	22	3863		c.e22+1		CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							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)		GTGACCACCTACCCACACACC	0.587000													9	29					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182559896	182559896	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:182559896G>T	ENST00000323116.5	+	8	950	c.690G>T	c.(688-690)atG>atT	p.M230I	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	230					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCCAACAAATGGAAGAAATTG	0.318000													4	36					1	1	1	1	0
TRIM14	9830	broad.mit.edu	37	9	100862412	100862412	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:100862412C>T	ENST00000341469.2	-	3	347	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E|TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	113						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGTGAATTTCCCCTTCAGCCA	0.428000													14	20					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194058	36194058	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:36194058T>G	ENST00000242108.4	+	2	843	c.125T>G	c.(124-126)aTc>aGc	p.I42S	EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	42	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCTCAACATCAACACTGCC	0.597000													80	61					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132985	48132985	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:48132985C>T	ENST00000405493.2	-	24	2485	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	759					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGGGCCAGTCGGTATACCCG	0.597000													16	60					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17943399	17943399	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:17943399C>T	ENST00000458235.1	-	19	2708	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	JAK3_ENST00000527670.1_Missense_Mutation_p.R870Q|JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	870	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGAATCTCCCGCTGAAAGTC	0.577000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								34	148					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19079036	19079036	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19079036C>T	ENST00000321998.5	+	1	116	c.50C>T	c.(49-51)cCg>cTg	p.P17L	COQ7_ENST00000568985.1_Missense_Mutation_p.P17L	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	17					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						cggctgcgcccgggggcccgg	0.627000													9	44					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328000													4	90					1	1	1	1	0
RYR2	6262	broad.mit.edu	37	1	237870323	237870323	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:237870323G>A	ENST00000366574.2	+	68	9972	c.9655G>A	c.(9655-9657)Gtg>Atg	p.V3219M	RYR2_ENST00000360064.6_Missense_Mutation_p.V3217M|RYR2_ENST00000542537.1_Missense_Mutation_p.V3203M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3219					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAGAAATCGTGGAATTAGC	0.448000													19	161					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511689	195511689	+	Silent	SNP	G	G	T	rs71634713		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511689G>T	ENST00000463781.3	-	2	7221	c.6762C>A	c.(6760-6762)acC>acA	p.T2254T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2254T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1037					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGAGGGGTGGTGTCACCTG	0.582000													3	21					0.004672	0.0049056	1	1	0
CDH26	60437	broad.mit.edu	37	20	58571629	58571629	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr20:58571629A>C	ENST00000350849.6	+	1	201	c.4A>C	c.(4-6)Aaa>Caa	p.K2Q	CDH26_ENST00000244049.3_Missense_Mutation_p.K2Q|CDH26_ENST00000348616.4_Intron|CDH26_ENST00000497614.1_Intron|CDH26_ENST00000244047.5_Intron	NM_021810.4	NP_068582.2	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATCCTCATGAAACCTCTGAT	0.413000													5	153					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14487604	14487604	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:14487604C>G	ENST00000344204.4	+	48	6891	c.6867C>G	c.(6865-6867)aaC>aaG	p.N2289K	TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2289					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCAGAGGAACCACAgcgggg	0.746000													4	36					0	0	1	0	0
C3P1	0	broad.mit.edu	37	19	10158113	10158113	+	RNA	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10158113T>C	ENST00000495140.1	+	0	1321																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TGTTGTACAATTTCAGGGATC	0.453000													32	122					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	85					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72552578	72552578	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:72552578G>A	ENST00000409314.1	-	19	2217	c.2049C>T	c.(2047-2049)taC>taT	p.Y683Y	FCHSD2_ENST00000311172.7_Silent_p.Y603Y|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409418.4_Silent_p.Y659Y|FCHSD2_ENST00000409263.1_Silent_p.Y20Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	659							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGGCTGGTCGTACAACGGCA	0.617000													12	4					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892429	4892429	+	Silent	SNP	C	C	T	rs145508163		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:4892429C>T	ENST00000328908.5	+	4	800	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CDYL_ENST00000343762.5_Silent_p.V37V|CDYL_ENST00000449732.2_Silent_p.V37V|CDYL_ENST00000397588.3_Silent_p.V169V|CDYL_ENST00000472453.1_Intron			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	223					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGACCCCGTCGAGCAGGGTC	0.617000													4	97					0	0	1	0	0
NACAP1	0	broad.mit.edu	37	8	102381636	102381636	+	RNA	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:102381636A>T	ENST00000419462.1	+	0	1048					NR_002182.1																						GGCAGTGAAGACGAAGAGGTC	0.453000													7	107					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28209315	28209315	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:28209315C>T	ENST00000373921.3	+	4	1484	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AGACTCTGAGCCTGGGATGTG	0.617000													30	59					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			50	7					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622201	41622201	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:41622201C>A	ENST00000331105.2	+	2	180	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	36					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGACCCCTCTCAATCC	0.547000													100	247					1.21964e-59	1.44976e-59	1	1	0
SFTPB	6439	broad.mit.edu	37	2	85890855	85890855	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:85890855C>A	ENST00000393822.3	-	8	923	c.824G>T	c.(823-825)gGc>gTc	p.G275V	SFTPB_ENST00000409383.1_Missense_Mutation_p.G275V|SFTPB_ENST00000342375.3_Missense_Mutation_p.G263V|SFTPB_ENST00000519937.2_Missense_Mutation_p.G263V			P07988	PSPB_HUMAN	surfactant protein B	263	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGCATGCGGCCCAGCAGCGT	0.682000													3	20					1	1	1	1	0
PRDM15	63977	broad.mit.edu	37	21	43243763	43243763	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:43243763G>A	ENST00000422911.1	-	15	1944	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	PRDM15_ENST00000538201.1_Missense_Mutation_p.H578Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.H595Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.H924Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.H558Y			P57071	PRD15_HUMAN	PR domain containing 15	924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTCGCCGTGGGTGAGCAGG	0.607000													4	8					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389633	57389633	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:57389633T>C	ENST00000300098.1	+	2	859	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	214						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GTACAGCACCTGGGCCCTGGC	0.632000													17	26					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106874060	106874060	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:106874060A>G	ENST00000286398.7	+	10	1507	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	407					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCCTGTAAAAATGATATAAG	0.418000													25	1					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	77					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGTTGCTCTGCAGGAGCAGG	0.617000													5	94					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	617618	617618	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:617618A>G	ENST00000358353.3	-	16	2593	c.2271T>C	c.(2269-2271)ggT>ggC	p.G757G	CDHR5_ENST00000397542.2_Silent_p.G757G|CDHR5_ENST00000349570.7_Silent_p.G563G			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	757					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCTCAGGGGCACCGCCTGGGG	0.776000													3	18					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612329	13612329	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:13612329G>T	ENST00000404922.3	+	2	593	c.474G>T	c.(472-474)cgG>cgT	p.R158R	FBLN2_ENST00000295760.7_Silent_p.R158R|FBLN2_ENST00000535798.1_Silent_p.R184R|FBLN2_ENST00000492059.1_Silent_p.R158R	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	158	N.|Subdomain NA (Cys-rich).					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)			CGCCCTGCCGGGCCTGCCACT	0.687000													11	27					0.010729	0.0111724	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49442982	49442982	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:49442982G>A	ENST00000301067.7	-	12	3925	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGTCTTCCTGGGAAACTGCT	0.547000													8	13					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109494590	109494590	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:109494590A>C	ENST00000257548.5	+	2	280	c.187A>C	c.(187-189)Aga>Cga	p.R63R	USP30_ENST00000392784.2_Silent_p.R32R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	63					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAGAAGCGTAGAAAAGGTAA	0.423000													16	55					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267593	150267593	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267593G>A	ENST00000367351.3	+	3	508	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	145	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTTTCGATGGGCAGATCTTCC	0.507000													105	123					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739287	138739287	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:138739287G>C	ENST00000329447.5	-	1	481	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	73										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTCGTCCAGGGGCACACGC	0.701000													6	58					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	31					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158468184	158468184	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:158468184A>G	ENST00000409339.3	-	12	1424	c.1311T>C	c.(1309-1311)cgT>cgC	p.R437R	NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000275830.10_Silent_p.R229R|NCAPG2_ENST00000409423.1_Silent_p.R437R			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	437					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGACAGAACAACGAACATCAG	0.348000													12	22					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113469	55113469	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:55113469A>G	ENST00000370862.3	+	2	592	c.256A>G	c.(256-258)Agg>Ggg	p.R86G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	86					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCACCACATGAGGACGGTAAC	0.448000													17	125					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651054	11651054	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:11651054T>A	ENST00000262442.3	+	32	6649	c.6581T>A	c.(6580-6582)aTc>aAc	p.I2194N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2194	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCATCATCAATCCAGCC	0.527000													26	34					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545806	48545806	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48545806G>A	ENST00000508540.1	-	1	521	c.369C>T	c.(367-369)acC>acT	p.T123T	ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.T123T|ACSF2_ENST00000300441.4_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	123					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTCAGCTCGGTCAGGTCGT	0.602000													7	147					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145538291	145538291	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145538291C>T	ENST00000369304.3	+	23	2993	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	940					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATATGAGCCCCACCTCCTGTT	0.552000													47	122					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215312	18215312	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:18215312G>C	ENST00000388870.2	+	20	2428	c.2187G>C	c.(2185-2187)caG>caC	p.Q729H	KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H|KDM1B_ENST00000297792.5_Missense_Mutation_p.Q496H			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	728					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATGACAAACAGGTGCTGCAGC	0.577000													7	56					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075524	1075524	+	Silent	SNP	G	G	A	rs137990661	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:1075524G>A	ENST00000264930.5	-	15	1972	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	643					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCAGCGATGAGCATGGCGG	0.637000													30	62					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920676	155920676	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:155920676G>A	ENST00000368316.1	-	24	3033	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R884W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R883W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	883					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCGCCGCCGAGGATCCACA	0.677000													36	151					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2911416	2911416	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:2911416G>A	ENST00000254695.8	+	17	1561	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	491					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGAGGCCACGGGGGGTTCCT	0.582000													10	64					0	0	1	0	0
ZSWIM7	125150	broad.mit.edu	37	17	15884460	15884460	+	Splice_Site	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:15884460T>A	ENST00000399277.1	-	4	299		c.e4-2		ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000472495.1_Splice_Site|ZSWIM7_ENST00000399280.2_Splice_Site	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7						DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TCCAAGGACCTACAAAGAAAG	0.423000													10	25					0	0	1	0	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	73					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40297490	40297490	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:40297490A>C	ENST00000416691.1	+	16	1705	c.1605A>C	c.(1603-1605)acA>acC	p.T535T	COG6_ENST00000455146.3_Silent_p.T535T	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	535					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTGGACACACTTATAAATG	0.368000													14	17					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190606164	190606164	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:190606164C>T	ENST00000520309.1	+	20	3885	c.3797C>T	c.(3796-3798)tCg>tTg	p.S1266L	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1266						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTTGTACTCGGGAATAGAA	0.358000													38	18					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	40998212	40998212	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:40998212G>C	ENST00000399564.4	-	42	5150	c.4700C>G	c.(4699-4701)gCt>gGt	p.A1567G	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGCAGCCTCAGCTGCTCTCTG	0.468000													35	224					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195202	19195202	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19195202C>A	ENST00000562034.1	+	3	4299	c.501C>A	c.(499-501)aaC>aaA	p.N167K	SYT17_ENST00000355377.2_Missense_Mutation_p.N228K|SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	228						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGCACTCCAACCCCTACGTCA	0.612000													29	303					4.74835e-14	5.48892e-14	1	1	0
MUC4	4585	broad.mit.edu	37	3	195511886	195511886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195511886G>C	ENST00000463781.3	-	2	7024	c.6565C>G	c.(6565-6567)Cac>Gac	p.H2189D	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2189D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	978					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.602000													3	30					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													4	59					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606605	82606605	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:82606605C>G	ENST00000518568.1	-	1	1804	c.603G>C	c.(601-603)ttG>ttC	p.L201F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	201						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCGCCTCAGGCAATGCCACAA	0.478000													10	301					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132202	51132202	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:51132202G>C	ENST00000324679.4	-	2	593	c.230C>G	c.(229-231)cCa>cGa	p.P77R		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	77					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTTTGAATTGGAGTTCTAAG	0.393000													5	12					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514331	79514331	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:79514331C>T	ENST00000537152.1	-	5	1849	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	C17orf70_ENST00000327787.8_Missense_Mutation_p.D593N|C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	593					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.D442N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGGGCAGGTCGAGCCCGCCG	0.682000													31	80					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95900250	95900250	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:95900250A>T	ENST00000520509.1	-	7	757	c.505T>A	c.(505-507)Ttt>Att	p.F169I	CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I			O96020	CCNE2_HUMAN	cyclin E2	169					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTATCAAAAAAGTCTTGTGCA	0.294000													58	21					0	0	1	0	0
C17orf76-AS1	0	broad.mit.edu	37	17	16344525	16344525	+	RNA	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:16344525A>G	ENST00000475953.1	+	0	540				C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NR_027667.1																						ACTCGCTTCAAAAAAAAAAGA	0.408000													30	2					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617000													4	131					0	0	1	0	0
DNAJB12	54788	broad.mit.edu	37	10	74096299	74096299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:74096299C>T	ENST00000338820.3	-	7	1240	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	DNAJB12_ENST00000444643.2_Nonsense_Mutation_p.W330*|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	330					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CTTCTCCTTCCAGCAGTTGTT	0.562000													43	101					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709043	78709043	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:78709043C>A	ENST00000286627.5	-	21	3344	c.2392G>T	c.(2392-2394)Ggc>Tgc	p.G798C	KCNMA1_ENST00000406533.3_Missense_Mutation_p.G860C|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G798C|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G856C|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G798C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G839C|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G859C	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	856					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTCCGGAGGCCGATCAGGGCT	0.557000													7	78					8.12818e-05	8.98378e-05	1	1	0
PHF3	23469	broad.mit.edu	37	6	64394337	64394337	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:64394337T>C	ENST00000262043.3	+	4	1054	c.714T>C	c.(712-714)caT>caC	p.H238H	PHF3_ENST00000509330.1_Silent_p.H238H|PHF3_ENST00000393387.1_Silent_p.H238H			Q92576	PHF3_HUMAN	PHD finger protein 3	238					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTCTAAGCATAAGTGTAATA	0.348000													4	122					0	0	1	0	0
NR4A3	0	broad.mit.edu	37	9	102595040	102595040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:102595040C>T	ENST00000330847.1	+	3	1098	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NR4A3_ENST00000395097.2_Nonsense_Mutation_p.R341*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	341					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGAGACGTCGAAACCGATG	0.368000			T	EWSR1	extraskeletal myxoid chondrosarcoma								44	5					0	0	1	0	0
RP5-1180C18.1	0	broad.mit.edu	37	1	37738061	37738061	+	RNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:37738061delG	ENST00000413901.1	-	0	233																											GGTGCTGCTAGGGAGCTGGCC	0.622													2	4	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	145015930	145015930	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145015930delT	ENST00000369359.4	-	3	409	c.371delA	c.(370-372)cgfs	p.Q124fs	PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.Q124fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000493130.2_Frame_Shift_Del_p.Q53fs|PDE4DIP_ENST00000478649.2_Frame_Shift_Del_p.Q53fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAATATGTCTGCACAAACGG	0.453			T	PDGFRB	MPD								19	657	---	---	---	---					
RP11-14N7.2	0	broad.mit.edu	37	1	148944038	148944038	+	RNA	DEL	A	A	-	rs76811044		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:148944038delA	ENST00000539543.1	+	0	254					NR_027355.1																						tccacctcagaaaaaaaaaaa	0.483													6	7	---	---	---	---					
RP11-400N13.1	0	broad.mit.edu	37	1	222435902	222435903	+	RNA	INS	-	-	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:222435902_222435903insT	ENST00000416510.1	-	0	167																											ATGGTACAAGATTTTTTTTGGA	0.381													13	32	---	---	---	---					
RP11-723O4.2	0	broad.mit.edu	37	3	128587316	128587316	+	RNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:128587316delA	ENST00000498297.1	-	0	410					NR_034179.1																						cctgtctcttaaaaaaaaaag	0.418													2	4	---	---	---	---					
RP11-197K6.1	0	broad.mit.edu	37	3	191281594	191281595	+	RNA	INS	-	-	C	rs151145582	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:191281594_191281595insC	ENST00000439804.1	+	0	61																											TCTTAAGAGTTCGTCAATGGCA	0.371													2	4	---	---	---	---					
MIR570	0	broad.mit.edu	37	3	195426368	195426369	+	RNA	INS	-	-	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195426368_195426369insC	ENST00000384917.1	+	0	97																											cctgaTGGAGTCCCCCTTGCCA	0.426													7	7	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													8	19	---	---	---	---					
LYRM2	57226	broad.mit.edu	37	6	90348404	90348404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:90348404delA	ENST00000523377.1	-	1	68	c.32delT	c.(31-33)cafs	p.L11fs	LYRM2_ENST00000520441.1_Frame_Shift_Del_p.L11fs|LYRM2_ENST00000520318.1_Frame_Shift_Del_p.L11fs	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	11										kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTTTAACGTTAGCGTCGCTGG	0.632													11	404	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57701099	57701099	+	RNA	DEL	T	T	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:57701099delT	ENST00000605139.1	-	0	416																											ctggccCAAGTTTTTTTCTAT	0.522													3	3	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75154977	75154977	+	RNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:75154977delA	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						actccgtctcaaaaaaaaaaa	0.557													3	5	---	---	---	---					
RP11-17A4.2	0	broad.mit.edu	37	8	57360009	57360009	+	RNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:57360009delG	ENST00000518662.1	+	0	694																											CAGGGTGTCCGGGGGTGTTGG	0.647													6	1	---	---	---	---					
RP11-302J23.1	0	broad.mit.edu	37	8	102075686	102075687	+	RNA	INS	-	-	TG	rs149152204	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:102075686_102075687insTG	ENST00000514926.1	+	0	865					NR_033962.1																						Atgtctgtgtttgtgtgtgtgt	0.540													2	4	---	---	---	---					
RP11-369K17.1	0	broad.mit.edu	37	8	122066506	122066506	+	RNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:122066506delG	ENST00000517739.1	+	0	188																											ctgtcttgttgatctgtctat	0.408													2	4	---	---	---	---					
RP11-262H14.3	0	broad.mit.edu	37	9	66523894	66523894	+	RNA	DEL	C	C	-	rs112257086		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:66523894delC	ENST00000445604.2	-	0	947																											caattaaaggccccaacaaac	0.333													3	3	---	---	---	---					
RP11-385N23.1	0	broad.mit.edu	37	10	7575258	7575259	+	RNA	INS	-	-	G	rs140338567	by1000genomes	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:7575258_7575259insG	ENST00000414631.1	+	0	90_91																											agcatcactgcgggggcggggg	0.574													5	4	---	---	---	---					
RP11-159H22.2	0	broad.mit.edu	37	11	27503115	27503115	+	RNA	DEL	A	A	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:27503115delA	ENST00000529258.1	+	0	244																											GTGTAATCAGAAAACCAGCAC	0.393													2	4	---	---	---	---					
LINC00221	0	broad.mit.edu	37	14	106938486	106938486	+	RNA	DEL	G	G	-	rs68155813		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:106938486delG	ENST00000334298.3	+	0	13					NR_027457.1																						CAGCTGCCCCGGTGCTTcccg	0.736													3	3	---	---	---	---					
RP11-672L10.2	0	broad.mit.edu	37	18	903640	903640	+	RNA	DEL	A	A	-	rs75906936		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr18:903640delA	ENST00000581719.1	-	0	3028				RP11-672L10.3_ENST00000582554.1_RNA																							ACGCTACAAGAGGGAAAGGAT	0.473													3	3	---	---	---	---					
CTC-548K16.2	0	broad.mit.edu	37	19	14473564	14473567	+	RNA	DEL	GGAA	GGAA	-	rs7507976		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:14473564_14473567delGGAA	ENST00000586698.1	-	0	119																											agaaagagagggaaggaaggaagg	0.436													6	3	---	---	---	---					
CTB-171A8.1	0	broad.mit.edu	37	19	45199272	45199272	+	RNA	DEL	G	G	-			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:45199272delG	ENST00000590796.1	-	0	408																											GGTGGGCAGCGGGGAGATGGA	0.512													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11048496	11048497	+	RNA	DEL	AT	AT	-	rs113591690		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr21:11048496_11048497delAT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAAAGtcacatgttttatctc	0.396													3	3	---	---	---	---