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
PLA2R1	22925	broad.mit.edu	37	2	160879191	160879191	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:160879191T>C	ENST00000283243.7	-	7	1485	c.1279A>G	c.(1279-1281)Acc>Gcc	p.T427A	PLA2R1_ENST00000392771.1_Missense_Mutation_p.T427A	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	427	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCAAGGAGGGTTACAAGAAAC	0.393000													36	37					0	0	0.021022	0	0
MN1	4330	broad.mit.edu	37	22	28192785	28192785	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:28192785C>T	ENST00000302326.4	-	1	4701	c.3747G>A	c.(3745-3747)gaG>gaA	p.E1249E		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1249							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTTGGCCTTCTCCCAGGGCG	0.617000			T	ETV6	"""AML, meningioma"""								50	130					0	0	0.014410	0	0
ZNF500	26048	broad.mit.edu	37	16	4812275	4812275	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4812275G>A	ENST00000219478.6	-	4	959	c.660C>T	c.(658-660)tcC>tcT	p.S220S	ZNF500_ENST00000545009.1_Silent_p.S220S			O60304	ZN500_HUMAN	zinc finger protein 500	220					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CACTCACCTGGGACCAGGCCG	0.637000													4	8					0	0	0.009096	0	0
KIAA0319	9856	broad.mit.edu	37	6	24588925	24588925	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:24588925G>T	ENST00000535378.1	-	5	1505	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P297Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P297Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P252Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P297Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	297					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTACTCCCCGGGGTGACTGT	0.582000													5	120					0.00116845	0.00268211	0.001168	1	0
ZNF135	7694	broad.mit.edu	37	19	58579100	58579100	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:58579100G>A	ENST00000506786.1	+	5	1676	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G	ZNF135_ENST00000511556.1_Silent_p.G428G|ZNF135_ENST00000401053.4_Silent_p.G440G|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.G416G|ZNF135_ENST00000439855.2_Silent_p.G416G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	428					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTGAGTGTGGGAAAGCCTTCA	0.532000													12	18					0	0	0.010729	0	0
PCLO	27445	broad.mit.edu	37	7	82595557	82595557	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:82595557C>T	ENST00000423517.2	-	4	3884	c.3547G>A	c.(3547-3549)Gaa>Aaa	p.E1183K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1183K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1122					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAATTTTTTCCATTGATAGT	0.363000													81	64					0	0	0.014410	0	0
ISLR	3671	broad.mit.edu	37	15	74467597	74467597	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:74467597A>G	ENST00000249842.3	+	2	755	c.398A>G	c.(397-399)gAg>gGg	p.E133G	ISLR_ENST00000395118.1_Missense_Mutation_p.E133G|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	133					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GACAGCAACGAGCTGACCTTC	0.597000													10	34					0	0	0.016723	0	0
NPAP1	23742	broad.mit.edu	37	15	24921352	24921352	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:24921352C>T	ENST00000329468.2	+	1	812	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CACCCCAGTTCCGTAAGGATC	0.662000													16	34					0	0	0.006122	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915790	13915790	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:13915790C>T	ENST00000254323.2	+	3	729	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	180							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCACGCCCACCAGGTGGAGC	0.632000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	25					0	0	0.016723	0	0
SCN3A	6328	broad.mit.edu	37	2	165952078	165952078	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:165952078G>A	ENST00000360093.3	-	25	4865	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	SCN3A_ENST00000409101.3_Silent_p.F1409F|SCN3A_ENST00000283254.7_Silent_p.F1458F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1458						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GATTCAGAGTGAAGAATGACC	0.308000													20	47					0	0	0.016522	0	0
BBS2	583	broad.mit.edu	37	16	56534820	56534820	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:56534820G>A	ENST00000245157.5	-	11	1763	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	BBS2_ENST00000568104.1_Missense_Mutation_p.P448L	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	448					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						GACATCTTTGGGAGGCACAAT	0.473000									Bardet-Biedl syndrome				25	41					0	0	0.018920	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004593	75004593	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:75004593G>A	ENST00000373359.2	-	1	486	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	98	MAGE 1.							p.F98F(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCATTCTCATGAAATTCACCA	0.532000													21	13					0	0	0.010504	0	0
CCDC51	79714	broad.mit.edu	37	3	48474298	48474298	+	Silent	SNP	C	C	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:48474298C>A	ENST00000395694.2	-	4	841	c.756G>T	c.(754-756)gcG>gcT	p.A252A	CCDC51_ENST00000395696.1_Silent_p.A252A|CCDC51_ENST00000447018.1_Silent_p.A143A|CCDC51_ENST00000442740.1_Silent_p.A143A|CCDC51_ENST00000412398.2_Silent_p.A143A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	252						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AGTAGCTAGACGCCTGTTCTC	0.602000													37	52					1.90571e-15	4.4762e-15	0.019004	1	0
ZNF667	63934	broad.mit.edu	37	19	56953625	56953625	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:56953625G>A	ENST00000504904.3	-	7	1458	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.H375Y|ZNF667_ENST00000292069.6_Missense_Mutation_p.H247Y			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCAACAACATGAATTTTCTGA	0.373000													39	74					0	0	0.006999	0	0
IRX2	153572	broad.mit.edu	37	5	2749632	2749632	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:2749632C>T	ENST00000382611.6	-	2	767	c.519G>A	c.(517-519)aaG>aaA	p.K173K	IRX2_ENST00000302057.5_Silent_p.K173K|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	173						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTTCTCCTTCTTGAGGCGCC	0.597000													40	71					0	0	0.013114	0	0
INPP4A	3631	broad.mit.edu	37	2	99156090	99156090	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:99156090A>T	ENST00000074304.5	+	10	1163	c.770A>T	c.(769-771)cAc>cTc	p.H257L	INPP4A_ENST00000409851.3_Missense_Mutation_p.H257L|INPP4A_ENST00000523221.1_Missense_Mutation_p.H257L|INPP4A_ENST00000545415.1_Missense_Mutation_p.H257L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Missense_Mutation_p.H257L|INPP4A_ENST00000409540.3_Missense_Mutation_p.H257L	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	257					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CTCTCCCTGCACGTGCCCCGG	0.577000													14	35					0	0	0.003163	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:241094032C>T	ENST00000366565.1	-	6	751	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_ENST00000446183.2_Missense_Mutation_p.E40K|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.E124K|RGS7_ENST00000331110.7_Missense_Mutation_p.E98K|RGS7_ENST00000407727.1_Missense_Mutation_p.E124K|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.E124K|RGS7_ENST00000366563.1_Missense_Mutation_p.E124K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	124					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGTGTTTTCCGGCTCCCAA	0.383000													230	92					0	0	0.014410	0	0
CDHR2	54825	broad.mit.edu	37	5	176016346	176016346	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:176016346C>T	ENST00000510636.1	+	23	3298	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	CDHR2_ENST00000261944.5_Silent_p.L1008L|CDHR2_ENST00000506348.1_Silent_p.L1008L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1008	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGACCAGCCTCGACTCCACTC	0.607000													41	15					0	0	0.014410	0	0
FAT4	79633	broad.mit.edu	37	4	126337775	126337775	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:126337775C>T	ENST00000394329.3	+	6	7029	c.7016C>T	c.(7015-7017)tCa>tTa	p.S2339L	FAT4_ENST00000335110.5_Missense_Mutation_p.S637L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2339	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTACAGATTCAGGTAAGTCC	0.463000													27	56					0	0	0.007291	0	0
PTPRB	5787	broad.mit.edu	37	12	70953102	70953102	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:70953102G>A	ENST00000551525.1	-	18	4756	c.4732C>T	c.(4732-4734)Ctt>Ttt	p.L1578F	PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000261266.5_Intron|PTPRB_ENST00000334414.6_Intron			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAAATAAGAGTAGCAAAA	0.363000													60	81					0	0	0.014410	0	0
C2orf61	285051	broad.mit.edu	37	2	47382311	47382311	+	Splice_Site	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:47382311G>A	ENST00000294947.2	-	1	115	c.81_splice	c.e1+1	p.S27_splice	C2orf61_ENST00000445927.2_Splice_Site_p.S27_splice|CALM2_ENST00000422269.1_Intron	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	27								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTTACCGAAGCTGTGAT	0.617000													8	17					0	0	0.004482	0	0
C1orf94	84970	broad.mit.edu	37	1	34677944	34677944	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:34677944A>G	ENST00000488417.1	+	6	1778	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	C1orf94_ENST00000373374.3_Missense_Mutation_p.N363S	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	363							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ATGTCTGCCAACCCCCGAGAC	0.562000													16	25					0	0	0.004007	0	0
NR3C2	4306	broad.mit.edu	37	4	149357927	149357927	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:149357927G>A	ENST00000355292.3	-	2	448	c.86C>T	c.(85-87)tCt>tTt	p.S29F	NR3C2_ENST00000358102.3_Missense_Mutation_p.S29F|NR3C2_ENST00000344721.4_Missense_Mutation_p.S29F|NR3C2_ENST00000511528.1_Missense_Mutation_p.S29F|NR3C2_ENST00000512865.1_Missense_Mutation_p.S29F|NR3C2_ENST00000342437.4_Missense_Mutation_p.S29F			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	29	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)	TCCCAGGGAAGAACGCTCCAC	0.473000													15	31					0	0	0.020292	0	0
NACA	4666	broad.mit.edu	37	12	57114409	57114409	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:57114409G>A	ENST00000454682.1	-	3	1186	c.905C>T	c.(904-906)cCc>cTc	p.P302L	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P302L	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGAGAAATGGGAAAATCTGG	0.483000			T	BCL6	NHL								22	22					0	0	0.014323	0	0
SORL1	6653	broad.mit.edu	37	11	121414407	121414407	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:121414407C>T	ENST00000260197.7	+	13	1965	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	612					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCTGGCTGATCCTCCAGGTCA	0.522000													43	17					0	0	0.011902	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489495	20489495	+	RNA	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:20489495G>A	ENST00000555186.1	+	0	483					NR_038836.1																						CTCAGAGAAAGGTATGAATAT	0.423000													15	68					0	0	0.004007	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767838	77767838	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:77767838A>T	ENST00000521891.2	+	10	9129	c.8681A>T	c.(8680-8682)gAc>gTc	p.D2894V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2868V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2849V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2849V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2849						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCCGGATGACAACGCCGAC	0.493000										HNSCC(33;0.089)			12	24					0	0	0.016723	0	0
PRSS38	339501	broad.mit.edu	37	1	228004922	228004922	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:228004922C>T	ENST00000366757.3	+	3	348	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAAGAATATCAAAATCTATG	0.577000													14	81					0	0	0.020292	0	0
CNTN4	152330	broad.mit.edu	37	3	3067886	3067886	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:3067886C>T	ENST00000397461.1	+	14	1971	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CNTN4_ENST00000418658.1_Silent_p.I529I|CNTN4_ENST00000358480.3_Silent_p.I310I|CNTN4_ENST00000427331.1_Silent_p.I529I|CNTN4_ENST00000448906.2_Silent_p.I201I|CNTN4_ENST00000397459.2_Silent_p.I201I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	529	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGCTAGACATCGTGTTTACTT	0.438000													17	32					0	0	0.004990	0	0
ABCB5	340273	broad.mit.edu	37	7	20721151	20721151	+	Silent	SNP	C	C	T	rs149931729	byFrequency	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:20721151C>T	ENST00000404938.2	+	15	2383	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	ABCB5_ENST00000258738.6_Silent_p.I132I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	132	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGACTACAATCGTGGTAGCAC	0.398000													33	34					0	0	0.019004	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715526	139715526	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:139715526C>T	ENST00000263552.6	+	15	1771	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TBXAS1_ENST00000425687.1_Silent_p.F343F|TBXAS1_ENST00000436047.2_Silent_p.F411F|TBXAS1_ENST00000416849.2_Silent_p.F457F|TBXAS1_ENST00000411653.1_Silent_p.F410F|TBXAS1_ENST00000414508.2_Silent_p.F411F|TBXAS1_ENST00000458722.1_Silent_p.F456F|TBXAS1_ENST00000448866.1_Silent_p.F410F|TBXAS1_ENST00000336425.5_Silent_p.F410F|TBXAS1_ENST00000462275.1_3'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	410					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCTCAGATTCACACGGGAGG	0.637000													38	43					0	0	0.011902	0	0
SLIT3	6586	broad.mit.edu	37	5	168114078	168114078	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:168114078C>T	ENST00000519560.1	-	30	3639	c.3220G>A	c.(3220-3222)Gac>Aac	p.D1074N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D1081N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D1074N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1074	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCATTGTCTGTCTCACAG	0.597000													19	9					0	0	0.012319	0	0
NMRK2	27231	broad.mit.edu	37	19	3942103	3942103	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3942103C>T	ENST00000599576.1	+	5	383	c.319C>T	c.(319-321)Ccg>Tcg	p.P107S	NMRK2_ENST00000168977.2_Silent_p.S175S|NMRK2_ENST00000593949.1_Silent_p.S180S					nicotinamide riboside kinase 2																		GCATGAAGTCCCGAGAGGAGC	0.642000													26	42					0	0	0.009535	0	0
MAATS1	89876	broad.mit.edu	37	3	119466103	119466103	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:119466103G>A	ENST00000273390.5	+	15	2121	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		TTATGAAATGGAAAGCCGGTG	0.388000													17	25					0	0	0.006122	0	0
MGRN1	23295	broad.mit.edu	37	16	4701967	4701967	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4701967C>T	ENST00000399577.5	+	3	304	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	MGRN1_ENST00000415496.1_Missense_Mutation_p.P71S|MGRN1_ENST00000588994.1_Missense_Mutation_p.P71S|MGRN1_ENST00000586183.1_Missense_Mutation_p.P71S|MGRN1_ENST00000262370.7_Missense_Mutation_p.P71S	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	71					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCCTAGTTTCCCTACGTCAC	0.612000													16	39					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9061059	9061059	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9061059G>T	ENST00000397910.4	-	3	26590	c.26387C>A	c.(26386-26388)gCa>gAa	p.A8796E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8798	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGAGGATGCCCCAGAATG	0.517000													26	58					3.73808e-20	8.84874e-20	0.005443	1	0
AMFR	267	broad.mit.edu	37	16	56448189	56448189	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:56448189C>G	ENST00000290649.5	-	2	533	c.323G>C	c.(322-324)gGc>gCc	p.G108A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	108					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCGAAGAGGGCCAAACACAAT	0.368000													41	83					0	0	0.014410	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617529	111617529	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:111617529C>G	ENST00000374667.3	-	1	1710	c.682G>C	c.(682-684)Gac>Cac	p.D228H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	228						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGTGAGGTCACCCCCAGCG	0.637000													34	8					0	0	0.019004	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270633	97270633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:97270633G>A	ENST00000523821.1	-	2	405	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.Q96*			Q96E29	MTER1_HUMAN	MTERF domain containing 1	96					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTGTCTTCTGTGACTGTTCA	0.408000													7	18					0	0	0.003080	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907045	39907045	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:39907045C>T	ENST00000425673.1	+	5	862	c.537C>T	c.(535-537)ttC>ttT	p.F179F	PLEKHG2_ENST00000378550.1_Silent_p.F179F|PLEKHG2_ENST00000409794.3_Silent_p.F179F|PLEKHG2_ENST00000409797.2_Silent_p.F179F|PLEKHG2_ENST00000458508.2_Silent_p.F120F			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	179	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCGAGTGCTTCGTGCAGAGGG	0.662000													34	43					0	0	0.017118	0	0
DAPK3	1613	broad.mit.edu	37	19	3959320	3959320	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3959320G>A	ENST00000545797.2	-	9	1387	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	DAPK3_ENST00000301264.3_Missense_Mutation_p.R382W			O43293	DAPK3_HUMAN	death-associated protein kinase 3	382					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTGCCGTAGCCTCCGC	0.711000													9	7					0	0	0.013537	0	0
DNAH11	8701	broad.mit.edu	37	7	21750226	21750226	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:21750226A>C	ENST00000328843.6	+	42	6791	c.6760A>C	c.(6760-6762)Aat>Cat	p.N2254H	DNAH11_ENST00000409508.3_Missense_Mutation_p.N2247H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2254	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAACAAGCAAATCTTAAGCA	0.353000									Kartagener syndrome				11	39					0	0	0.008291	0	0
HRC	3270	broad.mit.edu	37	19	49657031	49657031	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:49657031C>T	ENST00000252825.4	-	1	1650	c.1464G>A	c.(1462-1464)aaG>aaA	p.K488K	HRC_ENST00000595625.1_Silent_p.K488K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	488					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGTCCTCTTCCTTCTCCTTTT	0.542000													38	51					0	0	0.006230	0	0
SPDEF	25803	broad.mit.edu	37	6	34512119	34512119	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:34512119G>A	ENST00000374037.3	-	2	528	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SPDEF_ENST00000544425.1_Silent_p.L38L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	38					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGTCTCTCGAGACCCACTG	0.677000													13	15					0	0	0.016723	0	0
KLF14	136259	broad.mit.edu	37	7	130417998	130417998	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:130417998C>A	ENST00000310992.4	-	1	890	c.863G>T	c.(862-864)cGg>cTg	p.R288L		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					ACGACGTCCCCGGTACTCGAT	0.667000													8	439					0.00307968	0.00704259	0.003080	1	0
ASTN2	23245	broad.mit.edu	37	9	119188216	119188216	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:119188216T>C	ENST00000313400.4	-	23	4034	c.3934A>G	c.(3934-3936)Agc>Ggc	p.S1312G	ASTN2_ENST00000341734.4_Missense_Mutation_p.S364G|ASTN2_ENST00000288520.5_Missense_Mutation_p.S413G|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1308G|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1261G|ASTN2_ENST00000361477.3_Missense_Mutation_p.S364G			O75129	ASTN2_HUMAN	astrotactin 2	1312						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTGAGGATGCTATACCACACC	0.592000													25	6					0	0	0.018920	0	0
OR2T8	343172	broad.mit.edu	37	1	248085250	248085250	+	Missense_Mutation	SNP	C	C	T	rs149611352		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:248085250C>T	ENST00000319968.4	+	1	931	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	311			R -> H (in dbSNP:rs58882030).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCCTTAAGTCGTGAATAAGA	0.408000													23	185					0	0	0.016522	0	0
SETD5	55209	broad.mit.edu	37	3	9517225	9517225	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:9517225C>T	ENST00000402466.1	+	24	4253	c.3485C>T	c.(3484-3486)tCc>tTc	p.S1162F	SETD5_ENST00000302463.6_Missense_Mutation_p.S1162F|SETD5_ENST00000402198.1_Missense_Mutation_p.S1260F|SETD5_ENST00000406341.1_Missense_Mutation_p.S1260F|SETD5_ENST00000407969.1_Missense_Mutation_p.S1279F			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1260	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGAGTTCCTCCCCCTTCAGA	0.507000													22	27					0	0	0.014323	0	0
MARCH4	57574	broad.mit.edu	37	2	217234548	217234548	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:217234548C>T	ENST00000273067.4	-	1	2202	c.436G>A	c.(436-438)Gat>Aat	p.D146N		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	146						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGTAGCGATCCTCGGTCTTC	0.582000													17	40					0	0	0.004990	0	0
NBR2	10230	broad.mit.edu	37	17	41290976	41290976	+	RNA	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:41290976C>T	ENST00000460115.1	+	0	490					NR_003108.1																						caaccccctccccacaacctt	0.463000													23	31					0	0	0.014323	0	0
HRC	3270	broad.mit.edu	37	19	49657030	49657030	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:49657030C>T	ENST00000252825.4	-	1	1651	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	HRC_ENST00000595625.1_Missense_Mutation_p.E489K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	489					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGGTCCTCTTCCTTCTCCTTT	0.537000													36	52					0	0	0.021022	0	0
ESPL1	9700	broad.mit.edu	37	12	53687093	53687093	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:53687093C>T	ENST00000257934.4	+	31	6289	c.6198C>T	c.(6196-6198)gaC>gaT	p.D2066D	ESPL1_ENST00000552462.1_Silent_p.D2066D	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2066					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGTGACTGACCGCGACATTG	0.527000													15	20					0	0	0.004007	0	0
OLFM3	118427	broad.mit.edu	37	1	102290780	102290780	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:102290780C>T	ENST00000370103.4	-	4	607	c.394G>A	c.(394-396)Gag>Aag	p.E132K	OLFM3_ENST00000338858.5_Missense_Mutation_p.E152K|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.E152K|OLFM3_ENST00000536598.1_Missense_Mutation_p.E57K	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	152						extracellular region		p.E132Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGCAGGAGCTCGTCCATTTTC	0.413000													10	20					0	0	0.010729	0	0
DNAH11	8701	broad.mit.edu	37	7	21778399	21778399	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:21778399G>A	ENST00000328843.6	+	48	7778	c.7747G>A	c.(7747-7749)Gac>Aac	p.D2583N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D2576N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2583	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATTTTATCGACGACATGAA	0.388000									Kartagener syndrome				13	7					0	0	0.013537	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403680	47403680	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:47403680G>A	ENST00000310638.4	-	2	356	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Silent_p.L5L|CYP4A11_ENST00000371904.4_Silent_p.L109L|CYP4A11_ENST00000371905.1_Silent_p.L109L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	109					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GATCTCCCCAGAATCACCTTC	0.507000													33	59					0	0	0.017118	0	0
HEPH	9843	broad.mit.edu	37	X	65474959	65474959	+	Nonsense_Mutation	SNP	T	T	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:65474959T>A	ENST00000519389.1	+	16	2987	c.2808T>A	c.(2806-2808)taT>taA	p.Y936*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.Y615*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.Y693*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.Y885*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.Y885*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.Y882*			Q9BQS7	HEPH_HUMAN	hephaestin	882	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTGGATCTATTATTCTGCAG	0.473000													27	23					0	0	0.005443	0	0
GSPT1	2935	broad.mit.edu	37	16	11967011	11967011	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:11967011C>T	ENST00000434724.2	-	15	2078	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	GSPT1_ENST00000563468.1_Missense_Mutation_p.G489R|GSPT1_ENST00000420576.2_Missense_Mutation_p.G489R|GSPT1_ENST00000439887.2_Missense_Mutation_p.G626R|RP11-166B2.8_ENST00000574364.1_RNA	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	489					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						AGAACTTTTCCAATTGCAATG	0.323000													48	84					0	0	0.014410	0	0
ZNF423	23090	broad.mit.edu	37	16	49669816	49669816	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:49669816C>G	ENST00000561648.1	-	4	3300	c.3247G>C	c.(3247-3249)Gac>Cac	p.D1083H	ZNF423_ENST00000262383.2_Missense_Mutation_p.D1083H|ZNF423_ENST00000563137.2_Missense_Mutation_p.D1023H|ZNF423_ENST00000567169.1_Missense_Mutation_p.D966H|ZNF423_ENST00000535559.1_Missense_Mutation_p.D966H|ZNF423_ENST00000562871.1_Missense_Mutation_p.D1023H|ZNF423_ENST00000562520.1_Missense_Mutation_p.D1023H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1083					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCATTGACGTCAAGCTTCACC	0.701000													7	8					0	0	0.003080	0	0
OR6C3	254786	broad.mit.edu	37	12	55726419	55726419	+	Splice_Site	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:55726419G>A	ENST00000379667.1	+	1	935	c.933_splice	c.e1+1	p.*312_splice		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAATCAATGAATTTTTGGT	0.338000													12	15					0	0	0.013537	0	0
ITIH5	80760	broad.mit.edu	37	10	7679252	7679252	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:7679252G>A	ENST00000256861.6	-	5	669	c.591C>T	c.(589-591)atC>atT	p.I197I	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.I197I|ITIH5_ENST00000397146.2_Silent_p.I197I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	197					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCAGGGATGCGATGCCCGCGC	0.657000													68	19					0	0	0.014410	0	0
NAA11	84779	broad.mit.edu	37	4	80246960	80246960	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:80246960C>T	ENST00000286794.4	-	1	244	c.72G>A	c.(70-72)gaG>gaA	p.E24E		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	24	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.E24D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTGGTAGTTCTCAGGAAGGC	0.498000													20	44					0	0	0.008871	0	0
IL21R	50615	broad.mit.edu	37	16	27460383	27460383	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:27460383G>A	ENST00000337929.3	+	9	1869	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.G466S|IL21R_ENST00000395754.4_Missense_Mutation_p.G466S|IL21R_ENST00000395755.1_Missense_Mutation_p.G466S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	466					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACTGCCCTGGGGTGGCCGGTC	0.662000			T	BCL6	NHL								23	23					0	0	0.014323	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717724	2717724	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:2717724G>A	ENST00000323469.4	-	2	264	c.81C>T	c.(79-81)ttC>ttT	p.F27F	DIRAS1_ENST00000585334.1_Silent_p.F27F	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	27					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTTCACGAAGCGCAGCA	0.652000													21	22					0	0	0.016522	0	0
TMEM108	66000	broad.mit.edu	37	3	133099211	133099211	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:133099211T>C	ENST00000515826.1	+	3	779	c.656T>C	c.(655-657)aTc>aCc	p.I219T	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.I219T|TMEM108_ENST00000321871.6_Missense_Mutation_p.I219T			Q6UXF1	TM108_HUMAN	transmembrane protein 108	219						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTTTCAGATCTACAAGGGC	0.597000													16	38					0	0	0.006122	0	0
INO80	54617	broad.mit.edu	37	15	41340455	41340455	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:41340455G>A	ENST00000361937.3	-	22	3020	c.2596C>T	c.(2596-2598)Cca>Tca	p.P866S	INO80_ENST00000401393.3_Missense_Mutation_p.P866S			Q9ULG1	INO80_HUMAN	INO80 complex subunit	866	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTGCAAATGGAGAAAGAACC	0.388000													46	78					0	0	0.014410	0	0
FZR1	51343	broad.mit.edu	37	19	3526174	3526174	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:3526174C>A	ENST00000441788.2	+	4	488	c.252C>A	c.(250-252)aaC>aaA	p.N84K	FZR1_ENST00000395095.3_Missense_Mutation_p.N84K|FZR1_ENST00000313639.8_Missense_Mutation_p.N84K	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	84					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAGACAACGGCAAAGGTT	0.652000													13	30					9.31168e-06	2.15377e-05	0.016723	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	42					0	0	0.014758	0	0
RFNG	5986	broad.mit.edu	37	17	80007607	80007607	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:80007607G>A	ENST00000310496.4	-	6	781	c.774C>T	c.(772-774)ttC>ttT	p.F258F	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.F132F	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	258					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GGTGAGAGTGGAAGAGGGGGC	0.672000													7	4					0	0	0.001984	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758250	40758250	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:40758250C>T	ENST00000372759.3	+	10	1502	c.1337C>T	c.(1336-1338)cCt>cTt	p.P446L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	446						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGGGATTCCCTGTTTCTGAC	0.388000													43	58					0	0	0.008740	0	0
CEP170B	283638	broad.mit.edu	37	14	105360689	105360689	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:105360689G>T	ENST00000453495.1	+	17	4675	c.4447G>T	c.(4447-4449)Gtg>Ttg	p.V1483L	CEP170B_ENST00000418279.1_Missense_Mutation_p.V1377L|CEP170B_ENST00000414716.3_Missense_Mutation_p.V1447L|CEP170B_ENST00000556508.1_Missense_Mutation_p.V1412L					centrosomal protein 170B																		CGAGAACGAGGTGCCCATCCT	0.632000													26	46					4.59853e-10	1.07181e-09	0.005443	1	0
BAZ2B	29994	broad.mit.edu	37	2	160206325	160206325	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:160206325G>A	ENST00000392783.2	-	28	5252	c.4757C>T	c.(4756-4758)cCt>cTt	p.P1586L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1552L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1486L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1550L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGAGACTGAGGAGTCACCAA	0.448000													25	37					0	0	0.004656	0	0
USH2A	7399	broad.mit.edu	37	1	216173824	216173824	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:216173824G>A	ENST00000366943.2	-	33	6792	c.6406C>T	c.(6406-6408)Ctg>Ttg	p.L2136L	USH2A_ENST00000307340.3_Silent_p.L2136L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2136	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGTGTACAGTAGGACCCAG	0.458000										HNSCC(13;0.011)			44	23					0	0	0.013114	0	0
CTD-2587H24.4	0	broad.mit.edu	37	19	55671284	55671284	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55671284G>A	ENST00000587871.1	-	2	129	c.130C>T	c.(130-132)Cct>Tct	p.P44S	DNAAF3_ENST00000524407.2_Silent_p.L382L|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000527223.2_Silent_p.L449L|DNAAF3_ENST00000391720.4_Silent_p.L429L|DNAAF3_ENST00000455045.1_Silent_p.L328L																							CCACATAGAGGAGCTGGAATC	0.632000													29	55					0	0	0.017118	0	0
MROH1	727957	broad.mit.edu	37	8	145235343	145235343	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:145235343C>T	ENST00000528919.1	+	6	600	c.479C>T	c.(478-480)cCc>cTc	p.P160L	MROH1_ENST00000398656.4_Missense_Mutation_p.P160L|MROH1_ENST00000326134.5_Missense_Mutation_p.P160L|MROH1_ENST00000423230.2_Missense_Mutation_p.P160L|MROH1_ENST00000534366.1_Missense_Mutation_p.P160L	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		GGCGTAGTCCCCTTCCTGCCA	0.692000													19	31					0	0	0.010504	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324196	136324196	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:136324196G>A	ENST00000394945.1	-	8	1012	c.843C>T	c.(841-843)atC>atT	p.I281I	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Silent_p.I281I	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	281					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGAGGCTTGATACAGGGCT	0.493000													55	28					0	0	0.014410	0	0
RARB	5915	broad.mit.edu	37	3	25215977	25215977	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:25215977C>T	ENST00000404969.1	+	1	89	c.89C>T	c.(88-90)cCa>cTa	p.P30L				P10826	RARB_HUMAN	retinoic acid receptor, beta	30	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTACTCTTTCCACCTGTCATC	0.612000													40	51					0	0	0.010771	0	0
AKR1B1	231	broad.mit.edu	37	7	134135573	134135573	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:134135573C>T	ENST00000285930.4	-	3	395	c.316G>A	c.(316-318)Gac>Aac	p.D106N	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	106					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGTAGAGGTCCAGGTAGTCC	0.572000													5	38					0	0	0.006214	0	0
IL1B	3553	broad.mit.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:113591100C>T	ENST00000263341.2	-	4	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	51					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.R51Q(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTCGGAGATTCGTAGCTGGAT	0.627000													40	57					0	0	0.007835	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522286	86522286	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:86522286G>A	ENST00000450689.2	-	20	3001	c.2816C>T	c.(2815-2817)gCc>gTc	p.A939V	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A868V|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A699V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A772V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	939						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CAGCAAAACGGCAGTAAAAGC	0.458000													35	79					0	0	0.013726	0	0
FOXS1	2307	broad.mit.edu	37	20	30432534	30432534	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:30432534G>A	ENST00000375978.3	-	1	886	c.812C>T	c.(811-813)tCa>tTa	p.S271L		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	271					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGGGGCTGCTGAGGCCAAGAG	0.647000													28	14					0	0	0.009535	0	0
CYP4F3	4051	broad.mit.edu	37	19	15758007	15758007	+	Splice_Site	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:15758007G>A	ENST00000221307.7	+	5	446	c.397_splice	c.e5-1	p.G133_splice	CYP4F3_ENST00000586182.1_Splice_Site_p.G133_splice|CYP4F3_ENST00000591058.1_Splice_Site_p.G133_splice|CYP4F3_ENST00000585846.1_Splice_Site_p.G133_splice	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	133					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCCTGCCAGGGGATGGGCTC	0.602000													21	34					0	0	0.012319	0	0
NSL1	25936	broad.mit.edu	37	1	212911991	212911991	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:212911991G>A	ENST00000366977.3	-	6	623	c.605C>T	c.(604-606)tCc>tTc	p.S202F	NSL1_ENST00000366976.1_3'UTR|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366975.6_Missense_Mutation_p.S161F	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	202					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAGAACTTGGGAAAATCCCTC	0.398000													20	60					0	0	0.014323	0	0
RBCK1	10616	broad.mit.edu	37	20	409647	409647	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:409647T>C	ENST00000356286.5	+	11	2066	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	RBCK1_ENST00000353660.3_Missense_Mutation_p.V412A|RBCK1_ENST00000382181.2_Missense_Mutation_p.V284A	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	454					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAGATCGTGGTACAGAAGAAG	0.687000													7	30					0	0	0.004482	0	0
TRPM1	4308	broad.mit.edu	37	15	31341666	31341666	+	Missense_Mutation	SNP	C	C	A	rs148802607	by1000genomes	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:31341666C>A	ENST00000542188.1	-	12	1848	c.1535G>T	c.(1534-1536)cGt>cTt	p.R512L	TRPM1_ENST00000256552.6_Missense_Mutation_p.R495L|TRPM1_ENST00000397795.2_Missense_Mutation_p.R473L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	473					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AAAGTCGACACGATCTAAGAC	0.512000													29	65					1.55811e-20	3.7028e-20	0.008361	1	0
OCA2	4948	broad.mit.edu	37	15	28259952	28259952	+	Silent	SNP	G	G	A	rs142591701		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:28259952G>A	ENST00000354638.3	-	9	1169	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	OCA2_ENST00000353809.5_Silent_p.L338L|OCA2_ENST00000382996.2_Silent_p.L338L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	338					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGACGCCCGCGAGGATGGCCG	0.597000									Oculocutaneous Albinism				12	22					0	0	0.020292	0	0
TUBE1	51175	broad.mit.edu	37	6	112397659	112397659	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:112397659G>A	ENST00000368662.5	-	7	580	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	168					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TATACTTCTGGGAATTCGTCT	0.353000													14	10					0	0	0.004990	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571922	47571922	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:47571922C>T	ENST00000334194.3	+	9	1193	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	397						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GATGGACGCTCCTTACCTGCA	0.413000													31	42					0	0	0.013726	0	0
SP140	11262	broad.mit.edu	37	2	231102945	231102945	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:231102945T>A	ENST00000392045.3	+	3	369	c.255T>A	c.(253-255)ttT>ttA	p.F85L	SP140_ENST00000417495.3_Missense_Mutation_p.F85L|SP140_ENST00000420434.3_Missense_Mutation_p.F85L|SP140_ENST00000350136.5_Missense_Mutation_p.F65L|SP140_ENST00000486687.2_Missense_Mutation_p.F85L|SP140_ENST00000373645.3_Missense_Mutation_p.F85L|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000343805.6_Missense_Mutation_p.F85L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	85	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGAAGCTTTTAGAAACCTGG	0.363000													29	30					0	0	0.008361	0	0
LILRA1	11024	broad.mit.edu	37	19	55106156	55106156	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55106156G>A	ENST00000453777.1	+	4	267	c.97G>A	c.(97-99)Gct>Act	p.A33T	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.A33T	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	33	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CACACTCTGGGCTGAGCCAGG	0.557000													35	44					0	0	0.019004	0	0
MYOCD	93649	broad.mit.edu	37	17	12666901	12666901	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:12666901C>T	ENST00000425538.1	+	14	3101	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	MYOCD_ENST00000343344.4_Silent_p.F919F|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	919					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACATCGATTTCCTGGATGTCA	0.517000													20	26					0	0	0.014323	0	0
NOL6	65083	broad.mit.edu	37	9	33468039	33468039	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:33468039G>A	ENST00000379471.2	-	11	1500	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.D419D			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	471					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GCAGGACATGGTCAAAAGCCC	0.562000													83	28					0	0	0.014410	0	0
FAM170A	340069	broad.mit.edu	37	5	118970290	118970290	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:118970290G>A	ENST00000515256.1	+	3	1019	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	283	Glu-rich.					intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						gcaggaggaggaaaatggaaa	0.542000													51	16					0	0	0.014410	0	0
RMDN2	151393	broad.mit.edu	37	2	38178549	38178549	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:38178549T>C	ENST00000407257.1	+	2	338	c.191T>C	c.(190-192)tTa>tCa	p.L64S	RMDN2_ENST00000234195.3_Missense_Mutation_p.L64S|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.L64S|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		AGTAGAAGGTTATTATCTGTA	0.358000													19	36					0	0	0.006122	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758246	40758246	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:40758246T>A	ENST00000372759.3	+	10	1498	c.1333T>A	c.(1333-1335)Ttc>Atc	p.F445I		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	445						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAACTTGGGATTCCCTGTTTC	0.393000													42	53					0	0	0.007835	0	0
LPCAT1	79888	broad.mit.edu	37	5	1501585	1501585	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:1501585A>C	ENST00000283415.3	-	2	401	c.269T>G	c.(268-270)cTg>cGg	p.L90R		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	90					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTTCCTCCACAGGGCCGGGGG	0.662000													9	13					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179659762	179659762	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:179659762C>G	ENST00000589042.1	-	7	1356	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	TTN_ENST00000359218.5_Missense_Mutation_p.G378R|TTN_ENST00000591111.1_Missense_Mutation_p.G378R|TTN_ENST00000460472.2_Missense_Mutation_p.G378R|TTN_ENST00000342175.6_Missense_Mutation_p.G378R|TTN_ENST00000342992.6_Missense_Mutation_p.G378R|TTN_ENST00000360870.5_Missense_Mutation_p.G378R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	378							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTATCTCCCTTCCCATCTC	0.577000													27	40					0	0	0.021523	0	0
AKR1B1	231	broad.mit.edu	37	7	134135574	134135574	+	Silent	SNP	C	C	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:134135574C>A	ENST00000285930.4	-	3	394	c.315G>T	c.(313-315)ctG>ctT	p.L105L	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	105					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GGTAGAGGTCCAGGTAGTCCA	0.572000													5	40					1.76689e-08	4.10244e-08	0.006214	1	0
HSD3B2	3284	broad.mit.edu	37	1	119964650	119964650	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:119964650G>A	ENST00000543831.1	+	4	775	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	HSD3B2_ENST00000369416.3_Missense_Mutation_p.G176S	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	176					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TCTAAAAAATGGTGATACCTT	0.478000													38	44					0	0	0.005524	0	0
SESTD1	91404	broad.mit.edu	37	2	180014090	180014090	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:180014090G>A	ENST00000428443.3	-	7	831	c.515C>T	c.(514-516)tCa>tTa	p.S172L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	172					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCTAATAATGATGTAGATTC	0.308000													7	18					0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9091639	9091639	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9091639G>A	ENST00000397910.4	-	1	379	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	59	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTATCTGGGGAAGTAAAGGG	0.517000													30	56					0	0	0.007291	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559278	1559278	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:1559278C>T	ENST00000381605.4	-	2	203	c.139G>A	c.(139-141)Gga>Aga	p.G47R	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.G47R|SIRPB1_ENST00000262929.5_Missense_Mutation_p.G46R|SIRPB1_ENST00000381603.3_Missense_Mutation_p.G47R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	47	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCCGACTCTCCAGCTGCAACT	0.532000													75	53					0	0	0.014410	0	0
TRRAP	8295	broad.mit.edu	37	7	98530997	98530997	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:98530997T>G	ENST00000359863.4	+	27	4195	c.3986T>G	c.(3985-3987)gTg>gGg	p.V1329G	TRRAP_ENST00000355540.3_Missense_Mutation_p.V1329G|TRRAP_ENST00000446306.3_Missense_Mutation_p.V1328G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1329					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GACCTTAACGTGGTGGAGCAT	0.567000													39	56					0	0	0.014410	0	0
MEGF10	84466	broad.mit.edu	37	5	126791215	126791215	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:126791215G>A	ENST00000274473.6	+	25	3415	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Missense_Mutation_p.E1050K	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1050	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGTTATGTGGAGATGAAATC	0.443000													51	22					0	0	0.014410	0	0
CIDEA	1149	broad.mit.edu	37	18	12274218	12274218	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:12274218G>A	ENST00000320477.9	+	4	522	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CACCATGTATGAGATGTACTC	0.587000													31	15					0	0	0.019004	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	29					0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	C	T	rs61730792	byFrequency	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:10419889C>T	ENST00000226207.5	-	3	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R24Q(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCTTCAATTCGCTCCCTTTC	0.507000													41	61					0	0	0.007835	0	0
PIK3R6	146850	broad.mit.edu	37	17	8722442	8722442	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:8722442C>T	ENST00000311434.9	-	19	2190	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	652					platelet activation	cytosol											TTGACAACCTCTGTCACGTTG	0.537000													18	12					0	0	0.012319	0	0
OR52L1	338751	broad.mit.edu	37	11	6007836	6007836	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:6007836C>T	ENST00000332249.4	-	1	379	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAATCTCGTGGGCATGA	0.537000													13	5					0	0	0.020292	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114355	66114355	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:66114355T>C	ENST00000311181.4	-	1	808	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	221					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CAGGGCATAGTTGGCCCCCTC	0.612000													33	22					0	0	0.017118	0	0
DYSF	8291	broad.mit.edu	37	2	71896266	71896266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:71896266G>A	ENST00000258104.3	+	49	5731	c.5454G>A	c.(5452-5454)tgG>tgA	p.W1818*	DYSF_ENST00000409744.1_Nonsense_Mutation_p.W1826*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1857*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1819*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1849*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1835*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1850*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1836*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1856*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1840*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1839*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1818						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTATTATCTGGAATACCAGAG	0.498000													6	10					0	0	0.001984	0	0
HSPG2	3339	broad.mit.edu	37	1	22202148	22202148	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:22202148G>A	ENST00000374695.3	-	25	3355	c.3276C>T	c.(3274-3276)tcC>tcT	p.S1092S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1092	Laminin IV type A 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGGCGTAGGATGCTCGGA	0.662000													46	50					0	0	0.014410	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:35771819G>A	ENST00000440995.2	+	27	3895	c.3895G>A	c.(3895-3897)Gag>Aag	p.E1299K	SPEF2_ENST00000356031.3_Missense_Mutation_p.E1304K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E1304*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403000													16	28					0	0	0.004007	0	0
ANKS3	124401	broad.mit.edu	37	16	4764059	4764059	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:4764059C>T	ENST00000304283.4	-	7	996	c.702G>A	c.(700-702)cgG>cgA	p.R234R	ANKS3_ENST00000585773.1_Silent_p.R161R|ANKS3_ENST00000450067.2_Silent_p.R28R|ANKS3_ENST00000446014.2_Silent_p.R105R	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TACCTGGGCTCCGATAGAGGC	0.622000													17	35					0	0	0.006122	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39323982	39323982	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:39323982G>A	ENST00000391356.2	-	1	442	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	148	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCGGCAGCAGGAGGGCTGGCA	0.622000													10	13					0	0	0.013537	0	0
CDK11A	728642	broad.mit.edu	37	1	1635335	1635335	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:1635335G>A	ENST00000356200.3	-	16	1971	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	CDK11A_ENST00000357760.2_Silent_p.F612F|CDK11A_ENST00000495016.1_5'UTR|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Silent_p.F613F|CDK11A_ENST00000378633.1_Silent_p.F616F|CDK11A_ENST00000358779.5_Silent_p.F603F|CDK11A_ENST00000378638.2_Silent_p.F579F					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCAGCTCCCCGAAGATGCAGC	0.597000													16	26					0	0	0.007413	0	0
FBXL20	84961	broad.mit.edu	37	17	37420601	37420601	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:37420601G>A	ENST00000264658.6	-	14	1290	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	FBXL20_ENST00000583610.1_Missense_Mutation_p.R344C|FBXL20_ENST00000577399.1_Missense_Mutation_p.R346C|FBXL20_ENST00000394294.3_Missense_Mutation_p.R312C	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	344						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CCCAGGTGACGAATTCCATCA	0.517000													26	43					0	0	0.006320	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815059	106815059	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:106815059G>A	ENST00000407775.2	+	8	2999	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E785K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E648K|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E785K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	917					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.E917Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATAAAATGTGAGAAAAATGG	0.458000													11	13					0	0	0.010729	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297737	139297737	+	Nonsense_Mutation	SNP	C	C	T	rs114467064	by1000genomes	TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:139297737C>T	ENST00000406164.1	-	4	722	c.159G>A	c.(157-159)tgG>tgA	p.W53*	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Nonsense_Mutation_p.W53*|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000512391.1_Nonsense_Mutation_p.W90*|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Nonsense_Mutation_p.W53*|NMNAT3_ENST00000296202.7_Nonsense_Mutation_p.W90*			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	90					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CTGTCTCCATCCACTGTGCCT	0.592000													17	31					0	0	0.010504	0	0
FAT1	2195	broad.mit.edu	37	4	187549870	187549870	+	Silent	SNP	A	A	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:187549870A>T	ENST00000441802.2	-	8	4580	c.4371T>A	c.(4369-4371)tcT>tcA	p.S1457S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1457	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTTGATGTAGAAAACTGAG	0.333000										HNSCC(5;0.00058)			19	19					0	0	0.010504	0	0
EPHA6	285220	broad.mit.edu	37	3	96962974	96962974	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:96962974C>T	ENST00000389672.5	+	5	1487	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	EPHA6_ENST00000470610.2_Silent_p.I483I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	388	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCCGCTTCATCCCAAGACATA	0.443000													12	24					0	0	0.020292	0	0
EIF6	3692	broad.mit.edu	37	20	33867751	33867751	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:33867751G>A	ENST00000374450.3	-	5	804	c.540C>T	c.(538-540)ccC>ccT	p.P180P	EIF6_ENST00000374436.3_Silent_p.P180P|EIF6_ENST00000374443.3_Silent_p.P161P|RP4-614O4.11_ENST00000444717.1_RNA	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	180					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTACCACAAGGGGGACTTGAA	0.522000													60	214					0	0	0.014410	0	0
SCN1A	6323	broad.mit.edu	37	2	166900468	166900468	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:166900468C>T	ENST00000423058.2	-	11	1771	c.1754G>A	c.(1753-1755)gGa>gAa	p.G585E	SCN1A_ENST00000409050.1_Missense_Mutation_p.G585E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G585E|SCN1A_ENST00000303395.4_Missense_Mutation_p.G585E|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCTCAGATCCCACATCCTT	0.502000													32	46					0	0	0.017118	0	0
PRODH	5625	broad.mit.edu	37	22	18907078	18907078	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:18907078C>T	ENST00000357068.6	-	10	1402	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	PRODH_ENST00000420436.1_Silent_p.V271V|PRODH_ENST00000334029.2_Silent_p.V271V	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	379					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCTCGGCATCCACCATCAGCC	0.602000													7	14					0	0	0.003080	0	0
OR4K2	390431	broad.mit.edu	37	14	20344745	20344745	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:20344745T>A	ENST00000298642.2	+	1	355	c.319T>A	c.(319-321)Ttc>Atc	p.F107I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCACCTTTTCACTGGAAC	0.438000													39	98					0	0	0.006999	0	0
OR1M1	125963	broad.mit.edu	37	19	9204477	9204477	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9204477G>A	ENST00000429566.3	+	1	623	c.557G>A	c.(556-558)cGa>cAa	p.R186Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCATCCTCCGACTTTCGTGC	0.552000													42	79					0	0	0.008740	0	0
BPIFB1	92747	broad.mit.edu	37	20	31894787	31894787	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:31894787G>A	ENST00000253354.1	+	15	1550	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	463						extracellular space	lipid binding										AGTCCTCACTGACCAAGGTGA	0.572000													24	62					0	0	0.004656	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77369744	77369744	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:77369744C>T	ENST00000282849.5	-	12	2186	c.1768G>A	c.(1768-1770)Ggc>Agc	p.G590S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	590	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GACCACTGGCCGTGGATGGGC	0.577000													69	121					0	0	0.014410	0	0
ELOVL6	79071	broad.mit.edu	37	4	111026722	111026722	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:111026722A>C	ENST00000394607.3	-	3	315	c.152T>G	c.(151-153)aTg>aGg	p.M51R	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M51R|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	51					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TCGTTTATTCATTAGGTGCCG	0.378000													21	28					0	0	0.008871	0	0
GJA8	2703	broad.mit.edu	37	1	147380718	147380718	+	Silent	SNP	G	G	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:147380718G>C	ENST00000240986.4	+	2	689	c.636G>C	c.(634-636)gtG>gtC	p.V212V	GJA8_ENST00000369235.1_Silent_p.V212V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	212					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGTTGTCTGTGGCCTCTGTGT	0.612000													30	52					0	0	0.008361	0	0
KIAA1199	57214	broad.mit.edu	37	15	81181888	81181888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:81181888G>A	ENST00000394685.3	+	10	1460	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	KIAA1199_ENST00000220244.3_Nonsense_Mutation_p.W347*|KIAA1199_ENST00000356249.5_Nonsense_Mutation_p.W347*			Q8WUJ3	K1199_HUMAN	KIAA1199	347										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAGACCTCTGGAAAGCTCACC	0.413000													26	33					0	0	0.006320	0	0
TAB3	257397	broad.mit.edu	37	X	30849651	30849651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:30849651G>A	ENST00000378933.1	-	8	2209	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	TAB3_ENST00000378932.2_Nonsense_Mutation_p.R650*|TAB3_ENST00000288422.2_Nonsense_Mutation_p.R678*|TAB3_ENST00000378930.3_Nonsense_Mutation_p.R678*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	678					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TCTTCATCTCGAGGTTGTGTC	0.502000													14	9					0	0	0.003163	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907017	164907017	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:164907017C>T	ENST00000475390.1	-	2	2045	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	SLITRK3_ENST00000241274.3_Silent_p.L534L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	534						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGTTCTTCCTCAGGTTGAGCC	0.512000										HNSCC(40;0.11)			20	36					0	0	0.008871	0	0
LILRB1	10859	broad.mit.edu	37	19	55085550	55085550	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:55085550T>G	ENST00000396321.2	+	2	42	c.42T>G	c.(40-42)agT>agG	p.S14R	LILRA2_ENST00000251376.3_Missense_Mutation_p.S14R|LILRB1_ENST00000418536.2_Missense_Mutation_p.S14R|LILRA2_ENST00000251377.3_Missense_Mutation_p.S14R|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S14R|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Missense_Mutation_p.S14R			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	14					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGGCTGAGTCTGGGCCCCA	0.642000										HNSCC(37;0.09)			29	61					0	0	0.013726	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566269	155566269	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:155566269G>A	ENST00000295101.2	+	2	1334	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_Intron	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	286					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTATCCCAGCGAAGCATGCAA	0.433000													16	36					0	0	0.006122	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884669	228884669	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:228884669G>A	ENST00000392056.3	-	7	947	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P301S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	301						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCTGAGGGATCTAGACTC	0.403000													75	118					0	0	0.014410	0	0
RPH3AL	9501	broad.mit.edu	37	17	169211	169211	+	Splice_Site	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:169211C>T	ENST00000323434.8	-	5	948	c.351_splice	c.e5+1	p.K117_splice	RPH3AL_ENST00000576001.1_5'UTR|RPH3AL_ENST00000331302.7_Splice_Site_p.K117_splice|RPH3AL_ENST00000536489.2_Splice_Site_p.K117_splice	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	117	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		AGGGTCTTACCTTCCTGCAGT	0.627000													6	12					0	0	0.001984	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525611	31525611	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:31525611A>G	ENST00000376148.4	+	3	655	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	NFKBIL1_ENST00000376145.4_Intron	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	181					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GCAGGAAGTCATGGGGAGGTT	0.562000													14	34					0	0	0.020292	0	0
ELANE	1991	broad.mit.edu	37	19	855692	855692	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:855692C>T	ENST00000590230.1	+	5	636	c.495C>T	c.(493-495)atC>atT	p.I165I	ELANE_ENST00000263621.1_Silent_p.I165I			P08246	ELNE_HUMAN	elastase, neutrophil expressed	165	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ACCGTGGGATCGCCAGCGTCC	0.701000													28	63					0	0	0.006320	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720178	140720178	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:140720178C>T	ENST00000394576.2	+	1	1640	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.S547*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAATGTATCATTAAGCCTG	0.587000													56	27					0	0	0.014410	0	0
ARAP2	116984	broad.mit.edu	37	4	36152536	36152536	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:36152536G>A	ENST00000303965.4	-	16	3372	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	961	PH 3.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TATTTAAATAGAAGTCCTCTT	0.333000													9	149					0	0	0.008291	0	0
TCOF1	6949	broad.mit.edu	37	5	149771544	149771544	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:149771544C>T	ENST00000451292.1	+	22	3541	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	TCOF1_ENST00000504761.2_Missense_Mutation_p.P1108S|TCOF1_ENST00000439160.2_Missense_Mutation_p.P1070S|TCOF1_ENST00000513346.1_Missense_Mutation_p.P1107S|TCOF1_ENST00000445265.2_Missense_Mutation_p.P1031S|TCOF1_ENST00000377797.3_Missense_Mutation_p.P1108S|TCOF1_ENST00000323668.7_Missense_Mutation_p.P1031S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1108					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAACACTCCCTGCAACAAG	0.522000													15	7					0	0	0.004007	0	0
OR6A2	8590	broad.mit.edu	37	11	6816561	6816561	+	Missense_Mutation	SNP	G	G	A	rs151066337		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:6816561G>A	ENST00000332601.3	-	1	567	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R127C(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATATAGCGATCATAGGCC	0.527000													19	6					0	0	0.010504	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				43	45					0	0	0.013114	0	0
ZNF99	7652	broad.mit.edu	37	19	22952742	22952742	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:22952742C>T	ENST00000397104.3	-	1	42	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ZNF99_ENST00000596209.1_Intron					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTTTAAATCATACAGAATA	0.308000													16	32					0	0	0.004007	0	0
KRT28	162605	broad.mit.edu	37	17	38953273	38953273	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:38953273C>T	ENST00000306658.7	-	5	938	c.873G>A	c.(871-873)caG>caA	p.Q291Q		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	291	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGTGGGAGATCTGTTGCTGCA	0.667000													22	43					0	0	0.021523	0	0
ASTN2	23245	broad.mit.edu	37	9	119802190	119802190	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:119802190G>A	ENST00000313400.4	-	6	1431	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.S444F|ASTN2_ENST00000361209.2_Missense_Mutation_p.S393F			O75129	ASTN2_HUMAN	astrotactin 2	444						integral to membrane		p.S393F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGATGCAGGAACTCACAGC	0.498000													31	7					0	0	0.015359	0	0
PROX1	5629	broad.mit.edu	37	1	214170487	214170487	+	Silent	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:214170487T>C	ENST00000366958.4	+	2	1217	c.609T>C	c.(607-609)agT>agC	p.S203S	PROX1_ENST00000498508.2_Silent_p.S203S|PROX1_ENST00000261454.4_Silent_p.S203S|PROX1_ENST00000435016.1_Silent_p.S203S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	203					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCCGAGAAAGTTACAGAGAAA	0.507000													54	32					0	0	0.014410	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960475	51960475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:51960475C>T	ENST00000321424.3	-	3	810	c.744G>A	c.(742-744)tgG>tgA	p.W248*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.W155*|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	248	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGTCAAGTTCCAAGGAGGGT	0.562000													43	45					0	0	0.013114	0	0
CD97	976	broad.mit.edu	37	19	14512267	14512267	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:14512267C>T	ENST00000242786.5	+	10	1047	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	CD97_ENST00000358600.3_Missense_Mutation_p.R230W|CD97_ENST00000357355.3_Missense_Mutation_p.R274W	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	323					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCACCTGTCCGGCACCTCAT	0.557000													16	24					0	0	0.003163	0	0
SLC2A13	114134	broad.mit.edu	37	12	40153884	40153884	+	Missense_Mutation	SNP	G	G	A	rs141841078		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:40153884G>A	ENST00000280871.4	-	10	1941	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	631						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCTTTACCCGAATATATTCA	0.353000										HNSCC(50;0.14)			12	26					0	0	0.003163	0	0
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:51901748G>A	ENST00000268919.4	+	1	1510	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	452	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGGGAATGAAAGAGGAGC	0.488000													15	44					0	0	0.020292	0	0
BMPER	168667	broad.mit.edu	37	7	34192721	34192721	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:34192721G>A	ENST00000297161.2	+	16	2268	c.1894G>A	c.(1894-1896)Ggt>Agt	p.G632S	BMPER_ENST00000426693.1_Missense_Mutation_p.G632S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	632	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTGTAAGCATGGTGCTGTGTA	0.512000													108	75					0	0	0.014410	0	0
C6	729	broad.mit.edu	37	5	41142989	41142989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:41142989C>A	ENST00000263413.3	-	18	3007	c.2743G>T	c.(2743-2745)Gga>Tga	p.G915*	C6_ENST00000337836.5_Nonsense_Mutation_p.G915*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	915	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTATAGTTCCCACTTCACAG	0.438000													31	51					3.11337e-16	7.34127e-16	0.013726	1	0
CRLF2	64109	broad.mit.edu	37	X	1321287	1321287	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:1321287G>A	ENST00000381567.3	-	4	467	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CRLF2_ENST00000381566.1_Silent_p.F156F|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	156	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTCGGTGTCGAAGGGGCTCC	0.617000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								23	13					0	0	0.014323	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199392	71199392	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:71199392G>A	ENST00000554752.2	-	11	2693	c.2694C>T	c.(2692-2694)ccC>ccT	p.P898P	MAP3K9_ENST00000555993.2_Silent_p.P912P|MAP3K9_ENST00000554146.1_Silent_p.P626P|MAP3K9_ENST00000553414.1_Silent_p.P631P|MAP3K9_ENST00000381250.4_Silent_p.P875P			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	898	Pro-rich.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACATGGGTGGGAGTCAGAG	0.617000													55	99					0	0	0.014410	0	0
BRINP1	1620	broad.mit.edu	37	9	121929550	121929550	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:121929550G>A	ENST00000265922.3	-	8	2559	c.2098C>T	c.(2098-2100)Cgg>Tgg	p.R700W	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		700					cell cycle arrest|cell death	cytoplasm	protein binding	p.R700W(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATTCGGTCCCGAATATCCAAC	0.572000													82	29					0	0	0.014410	0	0
FREM1	158326	broad.mit.edu	37	9	14846007	14846007	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:14846007G>A	ENST00000380881.4	-	9	2162	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	FREM1_ENST00000422223.2_Silent_p.V448V|FREM1_ENST00000380880.3_Silent_p.V448V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	448					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGACTAGCCGGACAGCACCAA	0.478000													10	2					0	0	0.008291	0	0
POU5F1	5460	broad.mit.edu	37	6	31133748	31133748	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:31133748C>T	ENST00000259915.8	-	2	554	c.482G>A	c.(481-483)gGa>gAa	p.G161E	POU5F1_ENST00000513407.1_5'UTR|POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000441888.3_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	161	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CTGTGTATATCCCAGGGTGAT	0.517000			T	EWSR1	sarcoma								13	17					0	0	0.013537	0	0
COL9A3	1299	broad.mit.edu	37	20	61458603	61458603	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr20:61458603G>A	ENST00000343916.3	+	16	806	c.803G>A	c.(802-804)gGc>gAc	p.G268D		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	268	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTGACCGAGGCGAGAGGGGC	0.632000													41	47					0	0	0.014410	0	0
WDR65	149465	broad.mit.edu	37	1	43649316	43649316	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:43649316T>C	ENST00000372492.4	+	4	853	c.529T>C	c.(529-531)Ttt>Ctt	p.F177L	WDR65_ENST00000528956.1_Missense_Mutation_p.F177L	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	177										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAATGGGATGTTTAAGCTTCT	0.438000													23	44					0	0	0.014323	0	0
TRIP4	9325	broad.mit.edu	37	15	64701817	64701817	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:64701817G>C	ENST00000261884.3	+	7	893	c.833G>C	c.(832-834)cGa>cCa	p.R278P	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	278					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTCAGTATTCGAAGGACCCAA	0.398000													20	47					0	0	0.012319	0	0
OR2F1	26211	broad.mit.edu	37	7	143657151	143657151	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:143657151C>T	ENST00000392899.1	+	1	125	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTGTTTGTCCTGTTCTTGGT	0.483000													131	108					0	0	0.014410	0	0
LZTS2	84445	broad.mit.edu	37	10	102766875	102766875	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:102766875G>A	ENST00000370220.1	+	4	5023	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	LZTS2_ENST00000370223.3_Missense_Mutation_p.E654K			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	654	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGCCTGGCCGAGCAGGCCCC	0.652000													27	11					0	0	0.017118	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136335	103136335	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:103136335G>A	ENST00000295269.4	+	9	2196	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	580					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGATACAAGGAATCAAAAGA	0.453000													20	28					0	0	0.007413	0	0
NPHP4	261734	broad.mit.edu	37	1	6027358	6027358	+	Splice_Site	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:6027358C>T	ENST00000378156.4	-	5	783		c.e5+1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.?(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCTCTTACGCTCTGCGGG	0.592000													5	3					0	0	0.001168	0	0
CNDP2	55748	broad.mit.edu	37	18	72180891	72180891	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:72180891C>T	ENST00000324262.4	+	8	1156	c.840C>T	c.(838-840)atC>atT	p.I280I	CNDP2_ENST00000579847.1_Silent_p.I280I|CNDP2_ENST00000324301.8_Silent_p.I196I	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	280						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACGACGACATCGACTTTGACA	0.602000													32	25					0	0	0.017118	0	0
POM121L12	285877	broad.mit.edu	37	7	53103724	53103724	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:53103724G>A	ENST00000408890.4	+	1	376	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	120										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGGTTGCATGAAAGGGGGGC	0.706000													19	43					0	0	0.010504	0	0
MYO18B	84700	broad.mit.edu	37	22	26423568	26423568	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr22:26423568C>T	ENST00000335473.7	+	43	7878	c.7628C>T	c.(7627-7629)cCc>cTc	p.P2543L	MYO18B_ENST00000407587.2_Missense_Mutation_p.P2544L|MYO18B_ENST00000536101.1_Missense_Mutation_p.P2543L	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2543						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAACGTCCCCCGAGCGGAGA	0.547000													9	7					0	0	0.004482	0	0
ROR2	4920	broad.mit.edu	37	9	94493196	94493196	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:94493196C>T	ENST00000375708.3	-	7	1377	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.S253S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	393	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACATACTACACGAGGGTACGT	0.532000													20	14					0	0	0.016522	0	0
CHL1	10752	broad.mit.edu	37	3	423874	423874	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:423874C>T	ENST00000256509.2	+	17	2531	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	CHL1_ENST00000397491.2_Missense_Mutation_p.P614L|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	614	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTTCCGGATCCACCAGAAAAC	0.458000													27	33					0	0	0.010818	0	0
SCGB1C1	147199	broad.mit.edu	37	11	193805	193805	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:193805T>C	ENST00000342878.2	+	2	169	c.149T>C	c.(148-150)tTg>tCg	p.L50S	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	50						extracellular region	binding			endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGGGACCTTGGGCAAGTAC	0.537000													14	43					0	0	0.004990	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224556	172224556	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:172224556C>T	ENST00000241261.2	-	5	694	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	191					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTCCTGAAATCGAAAGTATGT	0.363000													28	55					0	0	0.007291	0	0
RADIL	55698	broad.mit.edu	37	7	4917310	4917310	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:4917310G>A	ENST00000399583.3	-	2	648	c.461C>T	c.(460-462)tCc>tTc	p.S154F	RADIL_ENST00000536091.1_Missense_Mutation_p.S154F	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	154	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AAACCTCCGGGATAAACCTTC	0.607000													30	77					0	0	0.009535	0	0
HNF4G	3174	broad.mit.edu	37	8	76476240	76476240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:76476240C>T	ENST00000396423.2	+	10	1371	c.1247C>T	c.(1246-1248)cCa>cTa	p.P416L	HNF4G_ENST00000354370.1_Missense_Mutation_p.P379L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	379					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCTTCCCCACCACAAGGCTCT	0.443000													51	63					0	0	0.014410	0	0
OR6C1	390321	broad.mit.edu	37	12	55715176	55715176	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:55715176A>G	ENST00000379668.2	+	1	831	c.793A>G	c.(793-795)Aga>Gga	p.R265G		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AGCAAAAGATAGAGTGTCCTT	0.443000													35	52					0	0	0.013726	0	0
PARP10	84875	broad.mit.edu	37	8	145059797	145059797	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:145059797C>T	ENST00000313028.7	-	4	550	c.456G>A	c.(454-456)gaG>gaA	p.E152E	PARP10_ENST00000524918.1_Silent_p.E152E|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Silent_p.E164E	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGCCTGCTCCTCCAGGA	0.667000													36	74					0	0	0.021022	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188894	11188894	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:11188894C>T	ENST00000382435.4	+	1	498	c.279C>T	c.(277-279)ccC>ccT	p.P93P		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	93	DUF6 1.					integral to membrane											GTGGCGACCCCCTTCTGGGAC	0.602000													83	165					0	0	0.014410	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917897	94917897	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:94917897C>T	ENST00000289495.5	+	17	3761	c.3545C>T	c.(3544-3546)gCc>gTc	p.A1182V	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1260V|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A984V|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.A984V|PPP1R9A_ENST00000424654.1_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	984						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAATCGGGCCGTTCAGGAA	0.443000										HNSCC(28;0.073)			27	57					0	0	0.013726	0	0
BRD8	10902	broad.mit.edu	37	5	137500715	137500715	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr5:137500715G>A	ENST00000254900.5	-	12	1790	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	BRD8_ENST00000230901.5_Silent_p.L546L|BRD8_ENST00000455658.2_Silent_p.L432L|BRD8_ENST00000411594.2_Silent_p.L476L|BRD8_ENST00000402931.1_Silent_p.L473L	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	473					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGGTGCAGGGAGAGGTACTG	0.527000													36	21					0	0	0.005524	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543152	133543152	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:133543152C>T	ENST00000409261.1	-	14	1605	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	NCKAP5_ENST00000317721.6_Missense_Mutation_p.R411Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	411							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAACACTTTTCGCTTCTGTAG	0.413000													26	47					0	0	0.007291	0	0
INPP4A	3631	broad.mit.edu	37	2	99156091	99156091	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:99156091C>T	ENST00000074304.5	+	10	1164	c.771C>T	c.(769-771)caC>caT	p.H257H	INPP4A_ENST00000409851.3_Silent_p.H257H|INPP4A_ENST00000523221.1_Silent_p.H257H|INPP4A_ENST00000545415.1_Silent_p.H257H|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.3_Silent_p.H257H|INPP4A_ENST00000409540.3_Silent_p.H257H	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	257					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TCTCCCTGCACGTGCCCCGGC	0.572000													14	34					0	0	0.003163	0	0
GDF3	9573	broad.mit.edu	37	12	7842749	7842749	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:7842749G>A	ENST00000329913.3	-	2	867	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	274			R -> W (in MCOPCB6).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCAGGTCCCGGAAGTTAATG	0.527000													18	45					0	0	0.004990	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279128	2279128	+	Missense_Mutation	SNP	G	G	A	rs138541422		TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:2279128G>A	ENST00000440306.2	-	2	258	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000242257.8_Missense_Mutation_p.R75W			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	75					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TCTAACACCCGAAGGCCGGGC	0.632000													13	29					0	0	0.020292	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767738	77767738	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:77767738G>A	ENST00000521891.2	+	10	9029	c.8581G>A	c.(8581-8583)Gat>Aat	p.D2861N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2835N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2816N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2816N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2816						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGGTCTGCGATGACAAATT	0.478000										HNSCC(33;0.089)			13	24					0	0	0.013537	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72503388	72503388	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr10:72503388G>A	ENST00000373208.1	+	13	2018	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R670H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	670	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GATGGGACACGCTGCAGCTAC	0.652000													29	6					0	0	0.009535	0	0
DTX4	23220	broad.mit.edu	37	11	58949400	58949400	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:58949400G>A	ENST00000227451.3	+	2	504	c.400G>A	c.(400-402)Gta>Ata	p.V134I	DTX4_ENST00000532982.1_Missense_Mutation_p.V28I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	134	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTTTAGCTACGTAATTGACTT	0.592000													36	23					0	0	0.021022	0	0
GPR179	440435	broad.mit.edu	37	17	36485889	36485889	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:36485889C>T	ENST00000342292.4	-	11	3583	c.3563G>A	c.(3562-3564)gGg>gAg	p.G1188E		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1188						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTCCGTTCCCCTAGACCCTG	0.537000													86	125					0	0	0.014410	0	0
LRRC16A	55604	broad.mit.edu	37	6	25605097	25605097	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:25605097G>A	ENST00000329474.6	+	34	3978	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1204					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAGCGGCGTAGAACGGTCGGA	0.498000													3	14					0	0	0.014758	0	0
MGAM	8972	broad.mit.edu	37	7	141765396	141765396	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:141765396G>A	ENST00000475668.2	+	39	4681	c.4627G>A	c.(4627-4629)Gag>Aag	p.E1543K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1543	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCATGATGGAGTTCAGCCT	0.532000													48	40					0	0	0.014410	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942329	24942329	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr16:24942329G>T	ENST00000289968.6	-	19	2360	c.2291C>A	c.(2290-2292)cCg>cAg	p.P764Q	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P686Q|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	764	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TCCTAGGGGCGGAGTACTGGG	0.612000													6	151					3.59834e-05	8.29122e-05	0.001168	1	0
ITGAE	3682	broad.mit.edu	37	17	3661060	3661060	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:3661060G>A	ENST00000263087.4	-	9	1058	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	320	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCGTAAGGTTGAGGGGGTCCT	0.562000													80	157					0	0	0.014410	0	0
PSMB1	5689	broad.mit.edu	37	6	170855238	170855238	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:170855238G>A	ENST00000262193.6	-	3	354	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAGTCTCCATGAAAACCGCTG	0.338000													11	3					0	0	0.013537	0	0
PCLO	27445	broad.mit.edu	37	7	82390045	82390045	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:82390045C>T	ENST00000333891.8	-	24	15535	c.15198G>A	c.(15196-15198)aaG>aaA	p.K5066K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4989					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTTTTTTCTTGATCACCT	0.328000													7	22					0	0	0.003080	0	0
TLL1	7092	broad.mit.edu	37	4	166935658	166935658	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:166935658A>G	ENST00000061240.2	+	8	1635	c.988A>G	c.(988-990)Acc>Gcc	p.T330A	TLL1_ENST00000513213.1_Missense_Mutation_p.T330A|TLL1_ENST00000507499.1_Missense_Mutation_p.T330A	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	330	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGGTCAGCGAACCCGTCTAAG	0.463000													29	59					0	0	0.006320	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201758	21201758	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:21201758C>T	ENST00000342679.4	+	2	332	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	28					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S32Y(1)|p.S32F(1)							COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CTACGGATATCCTGCATGTCC	0.557000													38	204					0	0	0.008740	0	0
CTD-2192J16.20	0	broad.mit.edu	37	19	12691555	12691555	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:12691555G>A	ENST00000593682.1	-	1	234	c.235C>T	c.(235-237)Cct>Tct	p.P79S	ZNF490_ENST00000311437.6_Missense_Mutation_p.P445L																							GCATTCATAGGGTTTCTCTCT	0.428000													29	56					0	0	0.015359	0	0
EPHA1	2041	broad.mit.edu	37	7	143095971	143095971	+	Silent	SNP	T	T	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:143095971T>C	ENST00000275815.3	-	6	1145	c.1059A>G	c.(1057-1059)gaA>gaG	p.E353E		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	353	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGCTGGGGGTTCCCAACGCA	0.647000													7	22					0	0	0.004482	0	0
RETN	56729	broad.mit.edu	37	19	7735189	7735189	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:7735189C>G	ENST00000221515.2	+	4	369	c.281C>G	c.(280-282)gCg>gGg	p.A94G	RETN_ENST00000381324.2_Missense_Mutation_p.A68G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	94							hormone activity			ovary(1)	1						TGCCAGTGCGCGGGCATGGAC	0.721000													3	6					0	0	0.004672	0	0
PTPRK	5796	broad.mit.edu	37	6	128643452	128643452	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:128643452G>A	ENST00000368227.3	-	3	593	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PTPRK_ENST00000532331.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368213.5_Missense_Mutation_p.S76F|PTPRK_ENST00000525459.1_Missense_Mutation_p.S76F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S76F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S76F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S76F|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	76	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATCATATAGGAACCTGAAAT	0.353000													45	24					0	0	0.014410	0	0
MTR	4548	broad.mit.edu	37	1	237057660	237057660	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:237057660G>C	ENST00000366577.5	+	30	3602	c.3208G>C	c.(3208-3210)Gag>Cag	p.E1070Q	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.E1019Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1070	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTAAGGCTGAGAAGGACTC	0.557000													9	93					0	0	0.008291	0	0
PRKACB	5567	broad.mit.edu	37	1	84700931	84700931	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:84700931A>T	ENST00000370689.2	+	10	1263	c.999A>T	c.(997-999)gaA>gaT	p.E333D	PRKACB_ENST00000394839.2_Missense_Mutation_p.E303D|PRKACB_ENST00000370682.3_Missense_Mutation_p.E337D|PRKACB_ENST00000394838.2_Missense_Mutation_p.E340D|PRKACB_ENST00000370685.3_Missense_Mutation_p.E380D	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	333	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACTATGAAGAAGAAGATATCC	0.368000													19	50					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179616407	179616407	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:179616407C>T	ENST00000360870.5	-	46	10942	c.10720G>A	c.(10720-10722)Gat>Aat	p.D3574N	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3569	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCAGAATCTCTGTCTTGG	0.403000													24	51					0	0	0.016522	0	0
ATP2B2	491	broad.mit.edu	37	3	10401650	10401650	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:10401650C>T	ENST00000397077.1	-	12	2257	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R606H|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATGGACTTGCGCACGGAGTT	0.577000													21	32					0	0	0.018920	0	0
TTC29	83894	broad.mit.edu	37	4	147796026	147796026	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:147796026C>T	ENST00000513335.1	-	8	918	c.719G>A	c.(718-720)gGg>gAg	p.G240E	TTC29_ENST00000398886.4_Missense_Mutation_p.G240E|TTC29_ENST00000325106.4_Missense_Mutation_p.G214E			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	214							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCATATCCGCCCCTGTGTCAA	0.458000													4	24					0	0	0.009096	0	0
COL22A1	169044	broad.mit.edu	37	8	139715557	139715557	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr8:139715557G>A	ENST00000303045.6	-	31	2997	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P851S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	851	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAGTTCCAGGTAACCCGGGA	0.463000										HNSCC(7;0.00092)			37	42					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179604720	179604720	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:179604720G>A	ENST00000589042.1	-	48	13464	c.13240C>T	c.(13240-13242)Ctt>Ttt	p.L4414F	TTN_ENST00000359218.5_Missense_Mutation_p.L4176F|TTN_ENST00000591111.1_Missense_Mutation_p.L4097F|TTN_ENST00000460472.2_Missense_Mutation_p.L4051F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L4243F|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4097	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGAGAAAAGACCTGGCTGC	0.478000													29	63					0	0	0.015359	0	0
MARCH10	162333	broad.mit.edu	37	17	60813510	60813510	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:60813510C>T	ENST00000544856.2	-	7	2094	c.1716G>A	c.(1714-1716)gtG>gtA	p.V572V	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Silent_p.V611V|MARCH10_ENST00000311269.5_Silent_p.V573V|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.V573V			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	573							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGGAAGAATCCACTAAGGACA	0.443000													61	74					0	0	0.014410	0	0
FRAS1	80144	broad.mit.edu	37	4	79236830	79236830	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:79236830G>A	ENST00000264895.6	+	16	2201	c.1761G>A	c.(1759-1761)ggG>ggA	p.G587G	FRAS1_ENST00000325942.6_Silent_p.G587G|FRAS1_ENST00000264899.6_Silent_p.G587G	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	587					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCATGATGGGAAATGCATGT	0.498000													27	47					0	0	0.021523	0	0
CASR	846	broad.mit.edu	37	3	122003562	122003562	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:122003562G>A	ENST00000498619.1	+	7	3229	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	CASR_ENST00000296154.5_Missense_Mutation_p.E921K|CASR_ENST00000490131.1_Missense_Mutation_p.E921K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	921					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCAACAGCGAAGACCCATT	0.662000													11	13					0	0	0.010729	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													50	86					0	0	0.014410	0	0
IL27RA	9466	broad.mit.edu	37	19	14159813	14159813	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:14159813C>T	ENST00000263379.2	+	9	1287	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	388	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCGGGGTCCCCTATCGAAT	0.537000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	50					0	0	0.007291	0	0
P2RY6	5031	broad.mit.edu	37	11	73008406	73008406	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:73008406G>A	ENST00000393590.2	+	2	1142	c.843G>A	c.(841-843)gcG>gcA	p.A281A	P2RY6_ENST00000393592.2_Silent_p.A281A|P2RY6_ENST00000393591.1_Silent_p.A281A|P2RY6_ENST00000542092.1_Silent_p.A281A|P2RY6_ENST00000540124.1_Silent_p.A281A|P2RY6_ENST00000540342.1_Silent_p.A281A|P2RY6_ENST00000349767.2_Silent_p.A281A|P2RY6_ENST00000538328.1_Silent_p.A281A	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	281					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CCTTTGCAGCGGCCTACAAAG	0.607000													28	6					0	0	0.005443	0	0
GPLD1	2822	broad.mit.edu	37	6	24467452	24467452	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:24467452C>T	ENST00000230036.1	-	8	706	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	199						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GATGACTTTTCGACCATACAG	0.358000													21	38					0	0	0.004656	0	0
FNIP2	57600	broad.mit.edu	37	4	159780304	159780304	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:159780304C>T	ENST00000264433.6	+	9	1028	c.953C>T	c.(952-954)tCc>tTc	p.S318F	FNIP2_ENST00000379346.3_Missense_Mutation_p.S341F	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	318					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ATCATCTTTTCCCTATGTGAG	0.413000													16	33					0	0	0.004990	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643583	94643583	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:94643583A>G	ENST00000260526.6	-	21	2803	c.2621T>C	c.(2620-2622)tTg>tCg	p.L874S	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	874	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTCTACCAAGCGTGCTTG	0.448000													35	58					0	0	0.013726	0	0
MUC16	94025	broad.mit.edu	37	19	9056776	9056776	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:9056776G>A	ENST00000397910.4	-	3	30873	c.30670C>T	c.(30670-30672)Cca>Tca	p.P10224S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10226	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCACTGGAATTTCAGTA	0.458000													16	35					0	0	0.004007	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													103	184					0	0	0.014410	0	0
COL11A1	1301	broad.mit.edu	37	1	103400018	103400018	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:103400018G>A	ENST00000358392.2	-	46	3940	c.3623C>T	c.(3622-3624)cCa>cTa	p.P1208L	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1196L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1080L|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1157L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1196	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AAGACCTATTGGACCAGGAGG	0.468000													31	51					0	0	0.013726	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339002	13339002	+	RNA	SNP	T	T	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:13339002T>A	ENST00000602906.1	+	0	790																				kidney(3)|lung(1)	4						CCAAGAGGAGTATGGAGAATT	0.408000													20	19					0	0	0.010504	0	0
CCDC170	80129	broad.mit.edu	37	6	151936661	151936661	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr6:151936661G>A	ENST00000367290.5	+	10	1904	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E	CCDC170_ENST00000239374.7_Silent_p.E598E			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	598																	AGAAAGCTGAGAAAAAGCTCA	0.398000													50	25					0	0	0.014410	0	0
GPAT2	150763	broad.mit.edu	37	2	96687993	96687993	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:96687993G>A	ENST00000434632.1	-	23	2761	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	GPAT2_ENST00000359548.4_Missense_Mutation_p.P768S|GPAT2_ENST00000453542.1_Missense_Mutation_p.P697S|GPAT2_ENST00000377137.3_3'UTR			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	768					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGGAGCCTGGGGCCTGCAGGG	0.577000													7	4					0	0	0.006214	0	0
MUC20	200958	broad.mit.edu	37	3	195453370	195453370	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:195453370G>A	ENST00000320736.6	+	3	1509	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	MUC20_ENST00000447234.2_Silent_p.A632A|MUC20_ENST00000445522.2_Silent_p.A597A|MUC20_ENST00000436408.1_Silent_p.A632A	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	632	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		p.A632A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAACCTCAGCGAAGACCACGA	0.612000													24	84					0	0	0.005443	0	0
SMYD4	114826	broad.mit.edu	37	17	1703976	1703976	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:1703976A>T	ENST00000305513.7	-	5	879	c.712T>A	c.(712-714)Tgc>Agc	p.C238S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	238							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGATCTACGCATAAGCCGATG	0.507000													8	140					0	0	0.004482	0	0
RBM47	54502	broad.mit.edu	37	4	40440569	40440569	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:40440569G>A	ENST00000319592.4	-	4	1051	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A114A|RBM47_ENST00000295971.7_Silent_p.A114A|RBM47_ENST00000381793.2_Silent_p.A114A|RBM47_ENST00000514014.1_Silent_p.A76A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	114	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACATGACGAAGGCGTAGCCGC	0.647000													21	44					0	0	0.016522	0	0
ISY1-RAB43	100534599	broad.mit.edu	37	3	128848999	128848999	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:128848999C>T	ENST00000418265.1	-	11	843	c.783G>A	c.(781-783)atG>atA	p.M261I	ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000393295.3_Missense_Mutation_p.M261I|ISY1_ENST00000273541.8_Missense_Mutation_p.M283I|ISY1_ENST00000393292.3_3'UTR	NM_001204890.1	NP_001191819.1	Q9ULR0	ISY1_HUMAN		261						catalytic step 2 spliceosome											GGAGGAGTTCCATTTTCTTCC	0.567000													34	59					0	0	0.021022	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554715	117554715	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr9:117554715G>T	ENST00000374045.4	-	3	386	c.273C>A	c.(271-273)gaC>gaA	p.D91E		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	91					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GCTTATCTCCGTCTGCTCTAA	0.488000													26	5					9.65021e-13	2.25792e-12	0.010818	1	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1101_splice	c.e13-1	p.L368_splice	POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000													5	7					0	0	0.014758	0	0
MYO1F	4542	broad.mit.edu	37	19	8590433	8590433	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:8590433C>T	ENST00000338257.8	-	25	3051	c.2784G>A	c.(2782-2784)aaG>aaA	p.K928K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	928						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCCATTCCCTTCCGCGTAG	0.612000													13	29					0	0	0.020292	0	0
RASGRF1	5923	broad.mit.edu	37	15	79356834	79356834	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr15:79356834T>G	ENST00000419573.3	-	2	585	c.311A>C	c.(310-312)cAg>cCg	p.Q104P	RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q104P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	104	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAAGGCTTTCTGGTTCTCATG	0.502000													65	99					0	0	0.014410	0	0
GRM7	2917	broad.mit.edu	37	3	7188268	7188268	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr3:7188268G>A	ENST00000486284.1	+	2	923	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	GRM7_ENST00000402647.2_Missense_Mutation_p.G217S|GRM7_ENST00000389336.4_Missense_Mutation_p.G217S|GRM7_ENST00000403881.1_Missense_Mutation_p.G217S|GRM7_ENST00000357716.4_Missense_Mutation_p.G217S	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	217					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AAAGGCCCTAGGCTGGAATTA	0.522000													31	47					0	0	0.009535	0	0
ZNF626	199777	broad.mit.edu	37	19	20829089	20829089	+	Silent	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr19:20829089G>A	ENST00000601440.1	-	2	272	c.126C>T	c.(124-126)ttC>ttT	p.F42F	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Silent_p.F42F	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CCTCACCAAGGAAGACCAGGT	0.343000													33	33					0	0	0.019004	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319907	21319907	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr17:21319907G>A	ENST00000583088.1	+	3	2148	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G418D	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTCCAGGCTGGCGGCGGGGTC	0.692000										Prostate(3;0.18)			6	30					0	0	0.003080	0	0
ESRRA	2101	broad.mit.edu	37	11	64081732	64081732	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:64081732G>A	ENST00000405666.1	+	4	698	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R155Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R155Q			P11474	ERR1_HUMAN	estrogen-related receptor alpha	155					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GACCGCGTCCGGGGTGGGCGG	0.697000													10	5					0	0	0.008291	0	0
REM2	161253	broad.mit.edu	37	14	23354167	23354167	+	Silent	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr14:23354167C>T	ENST00000267396.4	+	2	511	c.388C>T	c.(388-390)Cta>Tta	p.L130L	REM2_ENST00000536884.1_Silent_p.L130L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	130					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CAAGAGCACCCTAGCAGGCAC	0.622000													25	36					0	0	0.021523	0	0
CDHR5	53841	broad.mit.edu	37	11	619534	619534	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr11:619534C>T	ENST00000358353.3	-	12	1555	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	CDHR5_ENST00000397542.2_Missense_Mutation_p.M411I|CDHR5_ENST00000349570.7_Missense_Mutation_p.M411I			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	411	Cadherin 4.				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						CCTCTCCCTCCATCCGGAAGT	0.627000													31	16					0	0	0.015359	0	0
OR2T29	343563	broad.mit.edu	37	1	248722428	248722429	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr1:248722428_248722429insCG	ENST00000328570.3	-	1	368_369	c.364_365insCG	c.(364-366)ggcfs	p.G122fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCATAGGCCATGGTGGCTAGA	0.540													2	4	---	---	---	---					
SLC4A10	57282	broad.mit.edu	37	2	162358118	162358118	+	RNA	DEL	G	G	-			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr2:162358118delG	ENST00000605990.1	+	0	344																											TCCTAAAGCTGGTTTTCCAAC	0.378													27	34	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15018896	15018897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr4:15018896_15018897insT	ENST00000538197.1	+	4	2119_2120	c.2119_2120insT	c.(2119-2121)taafs	p.*707fs	CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.*240fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.*680fs|CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.*270fs|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.*240fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.*243fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.*707fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.*270fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	270					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GCATGATCCTCTTAAGGGTAGG	0.327													12	29	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													4	6	---	---	---	---					
LOC644669	644669	broad.mit.edu	37	18	15325911	15325911	+	RNA	DEL	T	T	-			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chr18:15325911delT	ENST00000455308.2	-	0	293					NR_027417.1																						AGTTGTCCTGTTTTCACCATC	0.423													2	4	---	---	---	---					
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D9-A1JX-06A-11D-A19A-08	TCGA-D9-A1JX-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	669e7f9e-ce84-40a3-b689-400839cae02f	ed60f368-5b86-4846-b93c-ad639b13ae68	g.chrX:67943519_67943520insC	ENST00000252336.6	+	12	2983_2984	c.2611_2612insC	c.(2611-2613)cccfs	p.P871fs	STARD8_ENST00000374597.3_Frame_Shift_Ins_p.P871fs|STARD8_ENST00000374599.3_Frame_Shift_Ins_p.P951fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	871	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A874fs*16(2)|p.A954fs*16(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGAGGTGGCAGCCCCCCCAGCT	0.678													3	4	---	---	---	---