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
NLGN4X	57502	broad.mit.edu	37	X	5827207	5827207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:5827207C>T	ENST00000381095.3	-	4	1326	c.699G>A	c.(697-699)tgG>tgA	p.W233*	NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.W233*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.W253*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.W233*|NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.W233*	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	233					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTCCTCAATCCACCGCAGTG	0.542000													17	43					0	0	0.008871	0	0
CHRM3	1131	broad.mit.edu	37	1	240071510	240071510	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:240071510G>A	ENST00000255380.4	+	5	1538	c.759G>A	c.(757-759)agG>agA	p.R253R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	253					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TATACTGGAGGATCTATAAGG	0.473000													18	87					0	0	0.008871	0	0
REXO1	57455	broad.mit.edu	37	19	1817251	1817251	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:1817251G>A	ENST00000170168.4	-	12	3262	c.3168C>T	c.(3166-3168)acC>acT	p.T1056T		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1056						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TCCCCGGGTGGGTGTCTCCTG	0.642000													5	20					0	0	0.001168	0	0
KIF6	221458	broad.mit.edu	37	6	39688569	39688569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:39688569C>T	ENST00000287152.7	-	2	179	c.85G>A	c.(85-87)Gat>Aat	p.D29N	KIF6_ENST00000538893.1_Missense_Mutation_p.D29N|KIF6_ENST00000373216.3_Missense_Mutation_p.D29N|KIF6_ENST00000373215.3_Missense_Mutation_p.D29N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	29	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AATTTTTCATCTTCATCTATG	0.313000													16	33					0	0	0.004990	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	RNA	SNP	C	C	T	rs3738597	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:16953672C>T	ENST00000412962.1	-	0	589																											TCGGTCTTCTCGGCCTGCAGC	0.652000													15	46					0	0	0.004990	0	0
PTPN9	5780	broad.mit.edu	37	15	75782618	75782618	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:75782618G>A	ENST00000306726.2	-	8	1505	c.993C>T	c.(991-993)aaC>aaT	p.N331N	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	331	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCCATAACGGTTTTTCTCTA	0.418000													70	85					0	0	0.014410	0	0
PCSK6	5046	broad.mit.edu	37	15	101968166	101968166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:101968166C>T	ENST00000348070.1	-	7	750	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PCSK6_ENST00000344273.2_Missense_Mutation_p.G251R|PCSK6_ENST00000398181.2_Missense_Mutation_p.G251R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.G251R|PCSK6_ENST00000331826.7_Missense_Mutation_p.G86R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	252	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAACTTCTCCCGCACAACGA	0.527000													5	8					0	0	0.001984	0	0
TRO	7216	broad.mit.edu	37	X	54957177	54957177	+	Silent	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:54957177T>A	ENST00000173898.7	+	12	4132	c.4020T>A	c.(4018-4020)ggT>ggA	p.G1340G	TRO_ENST00000375041.2_Silent_p.G943G|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G871G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1340	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTGGCAGTGGTTCCAACACCA	0.562000													30	77					0	0	0.009535	0	0
TNC	3371	broad.mit.edu	37	9	117810748	117810748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:117810748G>A	ENST00000350763.4	-	16	5054	c.4643C>T	c.(4642-4644)tCc>tTc	p.S1548F	TNC_ENST00000340094.3_Missense_Mutation_p.S1184F|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1548	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCCATCCAGGAAACTGTGAA	0.502000													26	3					0	0	0.006320	0	0
CLIP4	79745	broad.mit.edu	37	2	29366608	29366608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:29366608C>T	ENST00000320081.5	+	7	937	c.682C>T	c.(682-684)Cca>Tca	p.P228S	CLIP4_ENST00000401617.2_Missense_Mutation_p.P121S|CLIP4_ENST00000401605.1_Missense_Mutation_p.P228S|CLIP4_ENST00000404424.1_Missense_Mutation_p.P228S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	228										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGATGTTGTTCCAGACCCAGT	0.413000													55	35					0	0	0.014410	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:111155953C>T	ENST00000262839.2	-	3	1384	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000													25	76					0	0	0.003330	0	0
SPTAN1	6709	broad.mit.edu	37	9	131395598	131395598	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:131395598G>A	ENST00000372739.3	+	57	7529	c.7419G>A	c.(7417-7419)tcG>tcA	p.S2473S	SPTAN1_ENST00000358161.5_Silent_p.S2473S|SPTAN1_ENST00000372731.4_Silent_p.S2468S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2468					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCACCCGCTCGCTTTTCGTGA	0.632000													14	27					0	0	0.004990	0	0
ZNF454	285676	broad.mit.edu	37	5	178392084	178392084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:178392084C>T	ENST00000320129.3	+	5	982	c.679C>T	c.(679-681)Cag>Tag	p.Q227*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.Q227*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGCCTTTCACCAGAGTACGCA	0.373000													27	35					0	0	0.005443	0	0
TMC8	147138	broad.mit.edu	37	17	76133842	76133842	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:76133842C>T	ENST00000318430.5	+	11	1670	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	TMC8_ENST00000589691.1_Silent_p.I209I	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	432						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			AGCTGAGTATCTTCAACTTCC	0.667000													36	62					0	0	0.006230	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:139094904C>T	ENST00000332797.6	+	1	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000													47	82					0	0	0.014410	0	0
U2AF2	11338	broad.mit.edu	37	19	56171554	56171554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:56171554C>T	ENST00000450554.2	+	3	1156	c.197C>T	c.(196-198)aCc>aTc	p.T66I	U2AF2_ENST00000308924.4_Missense_Mutation_p.T66I	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	66					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AAACCTTTGACCAGAGGCGCT	0.627000													7	25					0	0	0.006214	0	0
PLCG2	5336	broad.mit.edu	37	16	81942191	81942191	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:81942191C>T	ENST00000359376.3	+	17	1942	c.1728C>T	c.(1726-1728)tcC>tcT	p.S576S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	576	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACACCCTGTCCTTCTGGTAAT	0.592000													11	14					0	0	0.008291	0	0
DST	667	broad.mit.edu	37	6	56499036	56499036	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:56499036T>C	ENST00000370754.5	-	26	3415	c.3416A>G	c.(3415-3417)aAt>aGt	p.N1139S	DST_ENST00000370788.2_Missense_Mutation_p.N961S|DST_ENST00000370769.4_Missense_Mutation_p.N961S|DST_ENST00000421834.2_Missense_Mutation_p.N961S|DST_ENST00000446842.2_Missense_Mutation_p.N635S|DST_ENST00000312431.6_Missense_Mutation_p.N961S|DST_ENST00000361203.3_Missense_Mutation_p.N961S|DST_ENST00000244364.6_Missense_Mutation_p.N635S|DST_ENST00000518935.1_Missense_Mutation_p.N635S|DST_ENST00000370765.6_Missense_Mutation_p.N635S			Q03001	DYST_HUMAN	dystonin	961					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTCAGGACATTCTGATACTG	0.353000													37	24					0	0	0.006999	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554361	85554361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:85554361G>A	ENST00000377386.3	-	2	956	c.494C>T	c.(493-495)cCt>cTt	p.P165L	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P165L|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165L|TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165L			O43493	TGON2_HUMAN	trans-golgi network protein 2	165	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TGACTTGCTAGGGCTGTCTTT	0.597000													138	582					0	0	0.014410	0	0
MEP1B	4225	broad.mit.edu	37	18	29795083	29795083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:29795083G>A	ENST00000269202.6	+	12	1665	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R	MEP1B_ENST00000581447.1_Missense_Mutation_p.G540R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	540	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCTAAAGTGGGAACAGTGGC	0.408000													64	84					0	0	0.014410	0	0
CLDN4	1364	broad.mit.edu	37	7	73245767	73245767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:73245767C>T	ENST00000435050.1	+	2	2916	c.236C>T	c.(235-237)gCg>gTg	p.A79V	CLDN4_ENST00000340958.2_Missense_Mutation_p.A79V|CLDN4_ENST00000431918.1_Missense_Mutation_p.A79V			O14493	CLD4_HUMAN	claudin 4	79					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GACCTGCAGGCGGCCCGCGCC	0.637000													41	45					0	0	0.010771	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910617	101910617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:101910617G>A	ENST00000537097.1	+	6	2589	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.M592I|GPRASP1_ENST00000415986.1_Missense_Mutation_p.M592I|GPRASP1_ENST00000361600.5_Missense_Mutation_p.M592I	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	592	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGACCTATATGGATTGTAGGG	0.507000													45	117					0	0	0.010771	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35502383	35502383	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35502383C>T	ENST00000599564.1	+	8	863	c.792C>T	c.(790-792)ttC>ttT	p.F264F	GRAMD1A_ENST00000411896.2_Silent_p.F170F|GRAMD1A_ENST00000317991.5_Silent_p.F177F|GRAMD1A_ENST00000504615.2_5'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	177						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GACAGCATTTCTTCACTTCCT	0.617000													33	78					0	0	0.005524	0	0
ALPK3	57538	broad.mit.edu	37	15	85401264	85401264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:85401264G>A	ENST00000258888.5	+	6	4068	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1301					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCCCCTGAGGGGCCTGGCCT	0.677000													16	10					0	0	0.004007	0	0
DNER	92737	broad.mit.edu	37	2	230341926	230341926	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230341926G>A	ENST00000341772.4	-	7	1325	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	397	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGGGTCTAGGATGCAGTAAT	0.403000													8	47					0	0	0.008291	0	0
ASAP3	55616	broad.mit.edu	37	1	23763958	23763958	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:23763958C>T	ENST00000336689.3	-	13	1154	c.1110G>A	c.(1108-1110)cgG>cgA	p.R370R	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Silent_p.R361R	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	370	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGTGGTACGTCCGGTTGTCTG	0.677000													20	16					0	0	0.002780	0	0
ANKRD26	22852	broad.mit.edu	37	10	27366341	27366341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:27366341G>A	ENST00000376087.4	-	9	1168	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ANKRD26_ENST00000436985.2_Missense_Mutation_p.H384Y|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	335						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAGGTAGGATGAGAAAAGCAC	0.378000													48	16					0	0	0.014410	0	0
P2RY8	286530	broad.mit.edu	37	X	1585060	1585060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1585060G>A	ENST00000381297.4	-	2	602	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	131						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGCGCTTGGAGCTGAGCGG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""								17	10					0	0	0.004990	0	0
KRT9	3857	broad.mit.edu	37	17	39725704	39725704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39725704C>T	ENST00000246662.4	-	4	1083	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	KRT9_ENST00000588431.1_Missense_Mutation_p.D107N	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	340	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TTCTCGATGTCCTTTCTGTTC	0.493000													20	30					0	0	0.010504	0	0
ATG2B	55102	broad.mit.edu	37	14	96800143	96800143	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:96800143C>T	ENST00000359933.4	-	8	1982	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	363										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAATTCGATACTCGTCTTCCT	0.368000													34	31					0	0	0.005524	0	0
DPP6	1804	broad.mit.edu	37	7	153584807	153584807	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:153584807G>A	ENST00000404039.1	+	1	626	c.39G>A	c.(37-39)caG>caA	p.Q13Q		NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTAAGATGCAGGGGAACGTGA	0.592000													18	19					0	0	0.014323	0	0
FYCO1	79443	broad.mit.edu	37	3	46008746	46008746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:46008746G>A	ENST00000296137.2	-	8	2285	c.2080C>T	c.(2080-2082)Cag>Tag	p.Q694*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.Q694*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	694					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTGCCATCTGGGCTTTCATG	0.637000													73	63					0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57327855	57327855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:57327855C>T	ENST00000326441.9	-	10	2318	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G526E|PEG3_ENST00000423103.2_Missense_Mutation_p.G652E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G528E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	652					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAATGGGTTCCCTCTAGTATG	0.398000													59	33					0	0	0.014410	0	0
PTPRT	11122	broad.mit.edu	37	20	40713470	40713470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:40713470G>A	ENST00000373198.3	-	30	4289	c.4054C>T	c.(4054-4056)Cgt>Tgt	p.R1352C	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1330C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1333C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1339C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1340C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1329C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1320C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1330	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGACTATACGATAACCATCC	0.587000													15	27					0	0	0.006122	0	0
MED1	5469	broad.mit.edu	37	17	37565510	37565510	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:37565510T>G	ENST00000300651.6	-	17	3187	c.2964A>C	c.(2962-2964)ttA>ttC	p.L988F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	988	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTTTGCTGTCTAATCCGGGCC	0.502000										HNSCC(31;0.082)			34	50					0	0	0.013726	0	0
F2RL1	2150	broad.mit.edu	37	5	76128776	76128776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:76128776C>T	ENST00000296677.4	+	2	550	c.344C>T	c.(343-345)gCc>gTc	p.A115V		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	115					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATTTACATGGCCAATCTGGCC	0.478000													222	285					0	0	0.014410	0	0
AHNAK	79026	broad.mit.edu	37	11	62293766	62293766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:62293766G>A	ENST00000378024.4	-	5	8397	c.8123C>T	c.(8122-8124)tCc>tTc	p.S2708F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2708					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGGCATGGAGATCTTGGG	0.463000													56	88					0	0	0.014410	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661379	21661379	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:21661379C>T	ENST00000229314.5	+	3	289	c.180C>T	c.(178-180)ttC>ttT	p.F60F	GOLT1B_ENST00000540141.1_Silent_p.F60F|GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	60	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						GATTCTTCTTCCAAAAACATA	0.338000													29	21					0	0	0.006320	0	0
VWA5A	4013	broad.mit.edu	37	11	123988472	123988472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123988472C>T	ENST00000456829.2	+	4	387	c.136C>T	c.(136-138)Cct>Tct	p.P46S	VWA5A_ENST00000392748.1_Missense_Mutation_p.P46S|VWA5A_ENST00000392744.4_Missense_Mutation_p.P62S|VWA5A_ENST00000360334.4_Missense_Mutation_p.P46S|VWA5A_ENST00000361352.5_Missense_Mutation_p.P46S|VWA5A_ENST00000449321.1_Missense_Mutation_p.P46S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	46	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGAGAAAGTTCCTTTGGAGGC	0.458000													25	93					0	0	0.004656	0	0
PDE10A	10846	broad.mit.edu	37	6	165746617	165746617	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:165746617C>T	ENST00000366882.1	-	23	2392		c.e23-1		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GAGATTATCCCTAGGGATAAA	0.478000													22	50					0	0	0.012319	0	0
MTUS2	23281	broad.mit.edu	37	13	29600240	29600240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:29600240G>A	ENST00000431530.3	+	1	1493	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	469						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGTGTTATGGTTTTGGTGTT	0.502000													21	33					0	0	0.002780	0	0
ZNF624	57547	broad.mit.edu	37	17	16525965	16525965	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:16525965G>A	ENST00000311331.7	-	6	2326	c.2235C>T	c.(2233-2235)atC>atT	p.I745I		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCACTATGGATTTTCTGAT	0.413000													64	72					0	0	0.014410	0	0
MYCN	4613	broad.mit.edu	37	2	16085916	16085916	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:16085916C>T	ENST00000281043.3	+	3	1389	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	364					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTGTCATCCCCCCAAAGGCTA	0.602000			A		neuroblastoma								54	24					0	0	0.014410	0	0
SMYD2	56950	broad.mit.edu	37	1	214491427	214491427	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:214491427C>T	ENST00000366957.5	+	4	376	c.354C>T	c.(352-354)atC>atT	p.I118I	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Silent_p.I118I	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	118					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GCTAGAAAATCCACCCAGAGA	0.398000													77	83					0	0	0.014410	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535829	69535829	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:69535829G>A	ENST00000338206.5	-	1	517	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	170				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGACTGTACAGAAAGGGTATG	0.408000													150	36					0	0	0.014410	0	0
NF1	4763	broad.mit.edu	37	17	29662004	29662004	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:29662004G>A	ENST00000358273.4	+	40	6344	c.5961G>A	c.(5959-5961)caG>caA	p.Q1987Q	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Silent_p.Q1966Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1987					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGAAAAACAGATGTACCCAT	0.358000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	36					0	0	0.003755	0	0
TMEM67	91147	broad.mit.edu	37	8	94770771	94770771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:94770771G>A	ENST00000453321.3	+	3	431	c.373G>A	c.(373-375)Gga>Aga	p.G125R	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	125					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AACTGCCGAAGGAAAATGTCA	0.308000													25	61					0	0	0.006320	0	0
CCNF	899	broad.mit.edu	37	16	2489771	2489771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2489771C>T	ENST00000397066.4	+	8	809	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	241					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TGGGCGATGCCTCCACAGCTT	0.592000													22	28					0	0	0.005443	0	0
ZNF610	162963	broad.mit.edu	37	19	52856990	52856990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:52856990C>T	ENST00000601151.1	+	4	571	c.119C>T	c.(118-120)tCc>tTc	p.S40F	ZNF610_ENST00000321287.8_Missense_Mutation_p.S40F|ZNF610_ENST00000327920.8_Missense_Mutation_p.S40F|ZNF610_ENST00000403906.3_Missense_Mutation_p.S40F	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAGTGGAAATCCCTGGACCCT	0.488000													25	86					0	0	0.004656	0	0
WDR86	349136	broad.mit.edu	37	7	151093146	151093146	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:151093146G>A	ENST00000334493.6	-	3	872	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	WDR86_ENST00000469830.2_Missense_Mutation_p.P148S|WDR86_ENST00000477459.1_Missense_Mutation_p.P20S	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTCCCACGGGGCAGAGTAG	0.692000													17	14					0	0	0.006122	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890307	24890307	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:24890307G>A	ENST00000382071.2	+	2	251	c.166_splice	c.e2+1	p.G56_splice	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Splice_Site_p.G56_splice			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	56	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AGGCGATGCAGGTACTCACCT	0.542000													4	30					0	0	0.006214	0	0
IL36B	27177	broad.mit.edu	37	2	113785692	113785692	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:113785692C>T	ENST00000327407.2	-	5	369	c.261_splice	c.e5-1	p.E88_splice	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	88					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATATTTTTTTCCTGGGGGTGG	0.468000													24	15					0	0	0.002780	0	0
SCRN3	79634	broad.mit.edu	37	2	175263133	175263133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:175263133C>T	ENST00000272732.6	+	2	204	c.122C>T	c.(121-123)cCt>cTt	p.P41L	SCRN3_ENST00000409673.3_Missense_Mutation_p.P34L	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	41					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			GTTTATTTTCCTGCTGTAGTT	0.333000													89	42					0	0	0.014410	0	0
ADRM1	11047	broad.mit.edu	37	20	60881373	60881373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:60881373G>A	ENST00000253003.2	+	4	497	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	151	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CTCTGCGCTAGGCGGTAACTG	0.602000													44	46					0	0	0.014410	0	0
GFRAL	389400	broad.mit.edu	37	6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448000													31	32					0	0	0.009535	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:22473063C>T	ENST00000557788.2	-	0	207																											TGATAGATTTCCCCAATCCAC	0.567000													58	261					0	0	0.014410	0	0
MROH7	374977	broad.mit.edu	37	1	55136510	55136510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:55136510G>A	ENST00000414150.2	+	7	1785	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	MROH7_ENST00000421030.2_Missense_Mutation_p.E503K|MROH7_ENST00000395690.2_Missense_Mutation_p.E503K|MROH7_ENST00000339553.5_Missense_Mutation_p.E503K|MROH7_ENST00000454855.2_Missense_Mutation_p.E21K|MROH7_ENST00000545244.1_Missense_Mutation_p.E71K|MROH7_ENST00000409996.1_Missense_Mutation_p.E71K					maestro heat-like repeat family member 7																		GGAGAGGTCGGAGCTGGTGAA	0.622000													8	20					0	0	0.006214	0	0
TBC1D7	51256	broad.mit.edu	37	6	13316816	13316816	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:13316816G>T	ENST00000607658.1	-	4	575	c.425C>A	c.(424-426)tCc>tAc	p.S142Y	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.S142Y|TBC1D7_ENST00000379300.3_Missense_Mutation_p.S169Y|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000356436.4_Missense_Mutation_p.S169Y			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	169	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGGGGCAAGGAATCCCGGTA	0.488000													35	99					4.3181e-19	5.73044e-19	0.013726	1	0
TRANK1	9881	broad.mit.edu	37	3	36873929	36873929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:36873929C>T	ENST00000301807.6	-	21	7260	c.5363G>A	c.(5362-5364)gGa>gAa	p.G1788E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G1788E|TRANK1_ENST00000429976.2_Missense_Mutation_p.G2338E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCTTCTATTCCTTTTATCCT	0.493000													29	79					0	0	0.010818	0	0
IWS1	55677	broad.mit.edu	37	2	128249591	128249591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128249591G>A	ENST00000295321.4	-	10	2262	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	668	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding	p.P668H(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGACTCCTTGGGGTGTTTATA	0.413000													20	64					0	0	0.002780	0	0
ZNF445	353274	broad.mit.edu	37	3	44491012	44491012	+	Silent	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:44491012A>C	ENST00000425708.2	-	6	1265	c.924T>G	c.(922-924)gcT>gcG	p.A308A	ZNF445_ENST00000396077.2_Silent_p.A308A			P59923	ZN445_HUMAN	zinc finger protein 445	308					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACCTGTAGGAGCAGCAACTG	0.512000													30	33					0	0	0.010818	0	0
MUSK	4593	broad.mit.edu	37	9	113563251	113563251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:113563251G>A	ENST00000416899.2	+	13	2695	c.2569G>A	c.(2569-2571)Gga>Aga	p.G857R	MUSK_ENST00000374448.4_Missense_Mutation_p.G865R|MUSK_ENST00000189978.5_Missense_Mutation_p.G865R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	865					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGGGCAGAGGGAACTGTGAG	0.498000													15	1					0	0	0.004007	0	0
ADCY7	113	broad.mit.edu	37	16	50325718	50325718	+	Silent	SNP	C	C	T	rs145728675		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:50325718C>T	ENST00000394697.2	+	4	787	c.447C>T	c.(445-447)gcC>gcT	p.A149A	ADCY7_ENST00000566433.2_Silent_p.A149A|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Silent_p.A149A|ADCY7_ENST00000538642.1_Silent_p.A149A|ADCY7_ENST00000537579.1_Silent_p.A149A			P51828	ADCY7_HUMAN	adenylate cyclase 7	149					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGCTGTCGCCGTTGGGGCCG	0.632000													19	23					0	0	0.010504	0	0
BPIFC	254240	broad.mit.edu	37	22	32843303	32843303	+	Silent	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:32843303A>G	ENST00000397452.1	-	4	380	c.270T>C	c.(268-270)ttT>ttC	p.F90F	BPIFC_ENST00000300399.3_Silent_p.F90F|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	90						extracellular region	lipopolysaccharide binding|phospholipid binding										AGGTATTTGGAAATGAAAAGG	0.463000													28	40					0	0	0.006320	0	0
NLRC4	58484	broad.mit.edu	37	2	32475335	32475335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:32475335G>A	ENST00000404025.2	-	5	2086	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	NLRC4_ENST00000402280.1_Missense_Mutation_p.S533F|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.S533F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	533					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTGCAAAGATTCCTGTCT	0.463000													13	54					0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82784603	82784603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82784603G>A	ENST00000423517.2	-	2	1691	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q452*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	403	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						CCTGCCTGTTGAGCTGGAATC	0.582000													52	64					0	0	0.014410	0	0
NUMB	8650	broad.mit.edu	37	14	73822358	73822358	+	Silent	SNP	G	G	A	rs116330699	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:73822358G>A	ENST00000554546.1	-	4	458	c.102C>T	c.(100-102)acC>acT	p.T34T	NUMB_ENST00000355058.3_Silent_p.T34T|NUMB_ENST00000356296.4_Silent_p.T34T|NUMB_ENST00000560335.1_Silent_p.T34T|NUMB_ENST00000559312.1_Silent_p.T34T|NUMB_ENST00000555738.2_Silent_p.T34T|NUMB_ENST00000557597.1_Silent_p.T34T|NUMB_ENST00000544991.3_Silent_p.T34T|NUMB_ENST00000535282.1_Silent_p.T34T|NUMB_ENST00000359560.3_Silent_p.T34T|NUMB_ENST00000454166.4_Silent_p.T34T|NUMB_ENST00000555394.1_Silent_p.T34T|NUMB_ENST00000555238.1_Silent_p.T34T|NUMB_ENST00000554521.2_Silent_p.T34T	NM_001005745.1	NP_001005745.1	P49757	NUMB_HUMAN	numb homolog (Drosophila)	34	PID.				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TACATTTTCCGGTGCGAACGC	0.408000													39	36					0	0	0.006999	0	0
OR56A3	390083	broad.mit.edu	37	11	5969167	5969167	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5969167C>T	ENST00000329564.6	+	1	598	c.591C>T	c.(589-591)acC>acT	p.T197T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGATGTCACCATCAATCACC	0.468000													23	43					0	0	0.012319	0	0
CD163L1	283316	broad.mit.edu	37	12	7510023	7510023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:7510023G>A	ENST00000313599.3	-	19	4396	c.4339C>T	c.(4339-4341)Cct>Tct	p.P1447S	CD163L1_ENST00000416109.2_Missense_Mutation_p.P1457S|CD163L1_ENST00000396630.1_Missense_Mutation_p.P1415S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1447						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCAGAGGCAGGAAGAACTCCC	0.413000													10	26					0	0	0.001855	0	0
TIAM2	26230	broad.mit.edu	37	6	155561736	155561736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:155561736G>A	ENST00000461783.3	+	18	4514	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	TIAM2_ENST00000528391.2_Missense_Mutation_p.E417K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E457K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E6K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E393K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1081K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1081K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1105K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1081K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1081					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGACCGCGGGAGAATCAGGA	0.557000													35	24					0	0	0.003755	0	0
MUC20	200958	broad.mit.edu	37	3	195453418	195453418	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:195453418G>A	ENST00000320736.6	+	3	1557	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	MUC20_ENST00000436408.1_Silent_p.T648T|MUC20_ENST00000445522.2_Silent_p.T613T|MUC20_ENST00000447234.2_Silent_p.T648T	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	648	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				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)		CTGCCCGGACGAGGCCGACCA	0.607000													23	57					0	0	0.007291	0	0
PCLO	27445	broad.mit.edu	37	7	82582974	82582974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82582974G>A	ENST00000423517.2	-	5	7632	c.7295C>T	c.(7294-7296)tCa>tTa	p.S2432L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2432L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2363	Pro-rich.				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						TGGTTTAGGTGAAGTTGGTgg	0.512000													3	8					0	0	0.009096	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494521	123494521	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123494521G>A	ENST00000280562.5	-	5	724	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Silent_p.S173S|PITPNM2_ENST00000546049.1_Silent_p.S173S|PITPNM2_ENST00000542749.1_Silent_p.S173S|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TCCAGTTCTCGGACAGGGGCC	0.552000													52	100					0	0	0.014410	0	0
ZNF296	162979	broad.mit.edu	37	19	45575443	45575443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:45575443G>A	ENST00000303809.2	-	3	1058	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	282					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCACCTGCCGGTGGGTCTTC	0.692000													169	103					0	0	0.014410	0	0
LAMA2	3908	broad.mit.edu	37	6	129419370	129419370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:129419370G>A	ENST00000421865.2	+	4	498	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	150	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCCGGCCTGGAAACTGGATT	0.438000													24	27					0	0	0.002780	0	0
ANKFN1	162282	broad.mit.edu	37	17	54428271	54428271	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:54428271C>T	ENST00000566473.2	+	4	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ANKFN1_ENST00000318698.2_Silent_p.F114F			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	114										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACTCTTCCTTCGATGAGGCCT	0.448000													8	10					0	0	0.004482	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			81	46					0	0	0.014410	0	0
PTPN23	25930	broad.mit.edu	37	3	47453656	47453656	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:47453656G>A	ENST00000265562.4	+	22	4223	c.4146G>A	c.(4144-4146)cgG>cgA	p.R1382R	PTPN23_ENST00000431726.1_Silent_p.R1256R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1382	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCATCAGCGGCCGCTGCACA	0.622000													21	52					0	0	0.010504	0	0
CASS4	57091	broad.mit.edu	37	20	55012399	55012399	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:55012399G>A	ENST00000371336.3	+	2	417	c.216G>A	c.(214-216)acG>acA	p.T72T	CASS4_ENST00000434344.1_Silent_p.T72T|CASS4_ENST00000360314.3_Silent_p.T72T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	72	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAATCCTCACGGAGGTCGCTG	0.627000													30	27					0	0	0.006320	0	0
C17orf70	80233	broad.mit.edu	37	17	79517371	79517371	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:79517371G>A	ENST00000537152.1	-	3	1221	c.696C>T	c.(694-696)ccC>ccT	p.P232P	C17orf70_ENST00000327787.8_Silent_p.P383P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	383					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCCTTCTTCGGGCTGCTCAG	0.672000													69	78					0	0	0.014410	0	0
USP53	54532	broad.mit.edu	37	4	120214168	120214168	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:120214168G>A	ENST00000450251.1	+	15	3568	c.3024G>A	c.(3022-3024)caG>caA	p.Q1008Q	USP53_ENST00000274030.6_Silent_p.Q1008Q			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1008					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGATTTTCAGGCAAACTCAG	0.383000													40	7					0	0	0.009718	0	0
SLC26A2	1836	broad.mit.edu	37	5	149360060	149360060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:149360060C>T	ENST00000286298.4	+	3	1172	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	302						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TAAGACCAATCTCTGTGATCT	0.443000													11	28					0	0	0.008291	0	0
SNHG14	104472715	broad.mit.edu	37	15	25457058	25457058	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:25457058G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						AGGATGCTGGGATCCCGAGAT	0.517000													93	78					0	0	0.014410	0	0
RCVRN	5957	broad.mit.edu	37	17	9804366	9804366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:9804366C>T	ENST00000226193.5	-	2	873	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	RCVRN_ENST00000570909.2_Missense_Mutation_p.E14K	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	145					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCGTGTTTTCATCGTCTGGA	0.433000													39	65					0	0	0.007835	0	0
SUN2	25777	broad.mit.edu	37	22	39141793	39141793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:39141793C>T	ENST00000405510.1	-	9	1067	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	SUN2_ENST00000411587.2_Missense_Mutation_p.G226R|SUN2_ENST00000406622.1_Missense_Mutation_p.G237R|SUN2_ENST00000216064.4_Missense_Mutation_p.G237R|SUN2_ENST00000405018.1_Missense_Mutation_p.G258R|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	237					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GTCTGCAGCCCATAGGGGTAG	0.607000													21	29					0	0	0.004656	0	0
OR52H1	390067	broad.mit.edu	37	11	5566159	5566159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5566159C>T	ENST00000322653.4	-	1	620	c.595G>A	c.(595-597)Gat>Aat	p.D199N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGAGATATCAGCACAGGCG	0.493000													19	27					0	0	0.010504	0	0
IGFL1	374918	broad.mit.edu	37	19	46733392	46733392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46733392G>A	ENST00000437936.1	+	2	76	c.53G>A	c.(52-54)aGg>aAg	p.R18K	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	18						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TGCATCTCCAGGCTCCTCTGC	0.577000													20	52					0	0	0.014323	0	0
CSMD1	64478	broad.mit.edu	37	8	3081320	3081320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:3081320G>A	ENST00000520002.1	-	29	4973	c.4418C>T	c.(4417-4419)cCt>cTt	p.P1473L	CSMD1_ENST00000542608.1_Missense_Mutation_p.P1472L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1473L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1473L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1472L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1473L|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1472L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1473	CUB 9.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCCCAGGAGGATACGGCTG	0.468000													38	53					0	0	0.005524	0	0
HCCS	3052	broad.mit.edu	37	X	11139765	11139765	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:11139765C>T	ENST00000321143.4	+	7	844	c.642C>T	c.(640-642)atC>atT	p.I214I	HCCS_ENST00000380763.3_Silent_p.I214I|HCCS_ENST00000380762.4_Silent_p.I214I|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	214					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						ACGATTGGATCATAAACCGTT	0.433000													19	60					0	0	0.008871	0	0
RFX4	5992	broad.mit.edu	37	12	107048058	107048058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:107048058C>T	ENST00000392842.1	+	4	658	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	RFX4_ENST00000357881.4_Missense_Mutation_p.L91F|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	82					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCGCAGTGCCCTCTATATGCA	0.498000													18	37					0	0	0.010504	0	0
ZFP37	7539	broad.mit.edu	37	9	115805518	115805518	+	Silent	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:115805518G>T	ENST00000374227.3	-	4	1407	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	ZFP37_ENST00000553380.1_Silent_p.P475P|ZFP37_ENST00000555206.1_Silent_p.P461P			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TACATTCAAAGGGTTTCTCAC	0.348000													6	9					5.9392e-07	7.79701e-07	0.001168	1	0
IGSF1	3547	broad.mit.edu	37	X	130419291	130419291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:130419291G>A	ENST00000370904.1	-	11	1412	c.502C>T	c.(502-504)Cca>Tca	p.P168S	IGSF1_ENST00000361420.3_Missense_Mutation_p.P177S|IGSF1_ENST00000370900.1_Missense_Mutation_p.P177S|IGSF1_ENST00000370901.4_Missense_Mutation_p.P177S|IGSF1_ENST00000370903.3_Missense_Mutation_p.P177S|IGSF1_ENST00000370910.1_Missense_Mutation_p.P168S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	177	Ig-like C2-type 2.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCCCAGTTGGGACTTGGTAA	0.498000													41	113					0	0	0.013114	0	0
POTEC	388468	broad.mit.edu	37	18	14543062	14543062	+	Silent	SNP	A	A	G	rs45469106		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:14543062A>G	ENST00000358970.5	-	1	83	c.84T>C	c.(82-84)ttT>ttC	p.F28F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AGCGGTGGTGAAACCACTTGC	0.547000													9	172					0	0	0.013537	0	0
CNDP1	84735	broad.mit.edu	37	18	72228144	72228144	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:72228144G>A	ENST00000582365.1	+	3	294	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Silent_p.G119G			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	119					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CCGAACTGGGGAGCGATCCCA	0.567000													97	102					0	0	0.014410	0	0
ARSH	347527	broad.mit.edu	37	X	2945448	2945448	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:2945448G>A	ENST00000381130.2	+	7	1131	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	377						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGATCAATGAGCCCACCAGCT	0.527000													17	62					0	0	0.007413	0	0
NPR1	4881	broad.mit.edu	37	1	153656275	153656275	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:153656275C>T	ENST00000368680.3	+	7	1931	c.1459C>T	c.(1459-1461)Ctg>Ttg	p.L487L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	487					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTCGGCATTCTGATTGTCTC	0.567000													24	133					0	0	0.004656	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:24188792G>A	ENST00000265769.4	+	12	1343	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.G411G|ADAM28_ENST00000540823.1_Silent_p.G178G|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G158G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000													16	19					0	0	0.006122	0	0
OR3A1	4994	broad.mit.edu	37	17	3195661	3195661	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:3195661C>T	ENST00000323404.1	-	1	215	c.216G>A	c.(214-216)ctG>ctA	p.L72L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACCCAACATCCAGCACTGATA	0.577000													23	38					0	0	0.012319	0	0
KSR2	283455	broad.mit.edu	37	12	118105303	118105303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:118105303G>A	ENST00000425217.1	-	5	1114	c.1060C>T	c.(1060-1062)Cac>Tac	p.H354Y	KSR2_ENST00000302438.5_Missense_Mutation_p.H80Y|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.H383Y	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	383					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTCAGTGTGAACAGGAGGG	0.622000													4	12					0	0	0.009096	0	0
UIMC1	51720	broad.mit.edu	37	5	176396646	176396646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:176396646G>A	ENST00000377219.2	-	5	585	c.419C>T	c.(418-420)tCc>tTc	p.S140F	UIMC1_ENST00000511320.1_Missense_Mutation_p.S140F|UIMC1_ENST00000506128.1_Missense_Mutation_p.S140F|UIMC1_ENST00000377227.4_Missense_Mutation_p.S140F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	140	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGGACTGGGAAGACGGTCC	0.502000													14	31					0	0	0.003163	0	0
SGK2	10110	broad.mit.edu	37	20	42213656	42213656	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:42213656G>A	ENST00000373100.1	+	14	1564	c.1104G>A	c.(1102-1104)taG>taA	p.*368*	SGK2_ENST00000341458.4_Silent_p.*428*|SGK2_ENST00000426287.1_Silent_p.*394*|SGK2_ENST00000423407.3_Silent_p.*368*|SGK2_ENST00000373077.1_Silent_p.*367*|SGK2_ENST00000373092.3_Silent_p.*368*			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	0	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGATTGCTAGAAGAGAAGGA	0.493000													34	68					0	0	0.004878	0	0
MMP15	4324	broad.mit.edu	37	16	58074057	58074057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:58074057C>T	ENST00000219271.3	+	4	1504	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	240					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGATGAGCCCTGGACCTTC	0.657000													27	30					0	0	0.009535	0	0
GRIA3	2892	broad.mit.edu	37	X	122551517	122551517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:122551517G>T	ENST00000264357.5	+	11	2057	c.1765G>T	c.(1765-1767)Gaa>Taa	p.E589*	GRIA3_ENST00000542149.1_Nonsense_Mutation_p.E589*|GRIA3_ENST00000541091.1_Nonsense_Mutation_p.E573*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.E589*|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.E589*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	589					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACAATGAAGAACCTCGTGA	0.433000													52	127					5.13769e-22	6.82484e-22	0.014410	1	0
RIT2	6014	broad.mit.edu	37	18	40500702	40500702	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:40500702C>T	ENST00000589109.1	-	5	621	c.450G>A	c.(448-450)agG>agA	p.R150R	RIT2_ENST00000282028.4_Silent_p.R150R|RIT2_ENST00000326695.5_Intron|RIT2_ENST00000590910.1_Intron	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAATTCTTCCCTTCCAAACT	0.393000													12	5					0	0	0.001855	0	0
RAG1	5896	broad.mit.edu	37	11	36597233	36597233	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:36597233C>T	ENST00000299440.5	+	2	2491	c.2379C>T	c.(2377-2379)tcC>tcT	p.S793S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	793					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGTCCCTTCCATAGATGCAC	0.483000									Familial Hemophagocytic Lymphohistiocytosis				27	36					0	0	0.009535	0	0
ITGB4	3691	broad.mit.edu	37	17	73738433	73738433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:73738433C>T	ENST00000200181.3	+	24	2832	c.2645C>T	c.(2644-2646)aCc>aTc	p.T882I	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.T882I|ITGB4_ENST00000449880.2_Missense_Mutation_p.T882I|ITGB4_ENST00000579662.1_Missense_Mutation_p.T882I|ITGB4_ENST00000339591.3_Missense_Mutation_p.T882I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	882					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAAGACCACACCATTGTGGAC	0.642000													15	17					0	0	0.004007	0	0
OR13C5	138799	broad.mit.edu	37	9	107361389	107361389	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:107361389G>A	ENST00000374779.2	-	1	399	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCAAGCTGAGGAACATCTGCA	0.517000													47	5					0	0	0.014410	0	0
ATP1A3	478	broad.mit.edu	37	19	42482370	42482370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42482370G>A	ENST00000545399.1	-	13	1931	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	ATP1A3_ENST00000602133.1_Missense_Mutation_p.S550F|ATP1A3_ENST00000302102.5_Missense_Mutation_p.S580F|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S591F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	580					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCGATCATGGACATGAGGCC	0.617000													10	31					0	0	0.010729	0	0
GIPC3	126326	broad.mit.edu	37	19	3589500	3589500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3589500G>A	ENST00000322315.5	+	4	697	c.652G>A	c.(652-654)Ggg>Agg	p.G218R		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	218										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGACCAGCGGGAGGGAGAC	0.612000													25	26					0	0	0.004656	0	0
TECTB	6975	broad.mit.edu	37	10	114059256	114059256	+	Missense_Mutation	SNP	G	G	A	rs142157041		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:114059256G>A	ENST00000369422.3	+	8	841	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TECTB_ENST00000494328.1_3'UTR	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	281	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TCAGACCTGCGATAAACGGAA	0.532000													36	6					0	0	0.010771	0	0
SORL1	6653	broad.mit.edu	37	11	121483501	121483501	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:121483501G>A	ENST00000260197.7	+	40	5508	c.5379G>A	c.(5377-5379)agG>agA	p.R1793R	SORL1_ENST00000532694.1_Silent_p.R639R|SORL1_ENST00000525532.1_Silent_p.R737R|SORL1_ENST00000527934.1_Silent_p.R408R|SORL1_ENST00000534286.1_Silent_p.R703R	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1793	Fibronectin type-III 3.				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)		AGCAAGAGAGGAGAACTTTGA	0.478000													14	16					0	0	0.004990	0	0
SAMD12	401474	broad.mit.edu	37	8	119391887	119391887	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:119391887G>A	ENST00000409003.4	-	4	503	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SAMD12_ENST00000314727.4_Silent_p.A125A|AC023590.1_ENST00000430457.1_Intron	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	125	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGTTCTCCTGGGCAATCCCCA	0.483000													21	23					0	0	0.003954	0	0
ENPP5	59084	broad.mit.edu	37	6	46129099	46129099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:46129099C>T	ENST00000371383.2	-	5	1658	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	ENPP5_ENST00000230565.3_Missense_Mutation_p.M466I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	466						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTTCAGCATGCATATCTTGTA	0.328000													6	13					0	0	0.001984	0	0
VPS8	23355	broad.mit.edu	37	3	184648292	184648292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:184648292C>T	ENST00000437079.3	+	34	3005	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	VPS8_ENST00000446204.2_Missense_Mutation_p.S853F|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.S943F|VPS8_ENST00000287546.4_Missense_Mutation_p.S945F	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	945							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AATATCTTATCCATTCCCGGA	0.393000													41	39					0	0	0.009718	0	0
BAZ2B	29994	broad.mit.edu	37	2	160303331	160303331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:160303331G>A	ENST00000392783.2	-	6	1153	c.658C>T	c.(658-660)Cag>Tag	p.Q220*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q218*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q220*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q218*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	220	Ser-rich.				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						TCCAAAGGCTGGTTTTTGCTT	0.363000													31	108					0	0	0.004289	0	0
CAD	790	broad.mit.edu	37	2	27444202	27444202	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:27444202C>T	ENST00000264705.4	+	3	501	c.339C>T	c.(337-339)atC>atT	p.I113I	CAD_ENST00000403525.1_Silent_p.I113I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	113	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCATGGCATCCCTGGCTTGC	0.577000													29	17					0	0	0.010818	0	0
TRPC7	57113	broad.mit.edu	37	5	135583368	135583368	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:135583368C>T	ENST00000513104.1	-	7	1917	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	TRPC7_ENST00000355180.3_Silent_p.A484A|TRPC7_ENST00000426057.2_Silent_p.A429A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	545					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACGGCTATCGCGTAGAGCC	0.517000													20	33					0	0	0.002780	0	0
ANKEF1	63926	broad.mit.edu	37	20	10023803	10023803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:10023803G>A	ENST00000378380.3	+	3	709	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R127Q	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CCGACTAAGCGGCATTATCGC	0.393000													40	45					0	0	0.008740	0	0
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:48921477G>A	ENST00000376396.3	+	5	488	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CCDC120_ENST00000422185.2_Missense_Mutation_p.R90H|CCDC120_ENST00000536628.2_Missense_Mutation_p.R78H|CCDC120_ENST00000603986.1_Missense_Mutation_p.R125H|CCDC120_ENST00000496529.2_Missense_Mutation_p.R90H|CCDC120_ENST00000597275.1_Missense_Mutation_p.R90H	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	90							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACAGCCCGCGCCTACCCT	0.682000													5	21					0	0	0.000602	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804540	113804540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:113804540C>T	ENST00000281273.4	+	10	1294	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	QTRTD1_ENST00000493014.1_Missense_Mutation_p.P240L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.P358L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.P223L	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	346					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	p.P346Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GACTTTAACCCGCTGGTGAGA	0.483000													35	104					0	0	0.009718	0	0
HUWE1	10075	broad.mit.edu	37	X	53600921	53600921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:53600921G>A	ENST00000342160.3	-	46	6558	c.6101C>T	c.(6100-6102)tCa>tTa	p.S2034L	HUWE1_ENST00000262854.6_Missense_Mutation_p.S2034L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2034					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCTGGAGTTGAAGCTGTTGA	0.453000													54	36					0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158436035	158436035	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158436035C>T	ENST00000289451.2	+	1	764	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCTAAAAATCCCTTCCTCCG	0.458000													37	55					0	0	0.003271	0	0
FLT1	2321	broad.mit.edu	37	13	29041080	29041080	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:29041080C>T	ENST00000282397.4	-	3	599	c.348G>A	c.(346-348)aaG>aaA	p.K116K	FLT1_ENST00000541932.1_Silent_p.K116K|FLT1_ENST00000539099.1_Silent_p.K116K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	116	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTCCTTCTTCTTTGAAGTAG	0.358000													39	38					0	0	0.006230	0	0
BIN2	51411	broad.mit.edu	37	12	51690899	51690899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:51690899C>T	ENST00000267012.4	-	8	713	c.652G>A	c.(652-654)Gat>Aat	p.D218N	BIN2_ENST00000604560.1_Missense_Mutation_p.D191N|BIN2_ENST00000544402.1_Missense_Mutation_p.D192N|BIN2_ENST00000452142.2_Missense_Mutation_p.D186N	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	218	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TAGAAGACATCCCTCAAGTTG	0.438000													31	22					0	0	0.012213	0	0
MTMR3	8897	broad.mit.edu	37	22	30415992	30415992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:30415992C>T	ENST00000333027.3	+	17	2672	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	MTMR3_ENST00000406629.1_Missense_Mutation_p.P782S|MTMR3_ENST00000401950.2_Missense_Mutation_p.P782S|MTMR3_ENST00000323630.5_Missense_Mutation_p.P646S|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.P782S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	782					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCCAGGTCCCCCCCAGGGG	0.547000													44	76					0	0	0.014410	0	0
TRAV7	28686	broad.mit.edu	37	14	22251444	22251444	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:22251444G>A	ENST00000390429.3	+	0	61																											AGGGGCAAATGGAGAAAACCA	0.403000													9	11					0	0	0.008291	0	0
LAMB4	22798	broad.mit.edu	37	7	107704394	107704394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:107704394C>T	ENST00000388781.3	-	22	2956	c.2873G>A	c.(2872-2874)gGa>gAa	p.G958E	LAMB4_ENST00000388780.3_Missense_Mutation_p.G958E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G958E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	958	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTTGGATTTCCATAGAAACC	0.498000													49	56					0	0	0.014410	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663071	22663071	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:22663071C>T	ENST00000426066.1	+	0	510					NR_027293.1																						GCCTGATTTTCGGATAGCTGC	0.303000													38	57					0	0	0.013114	0	0
OR52A1	23538	broad.mit.edu	37	11	5172665	5172665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5172665G>A	ENST00000380367.1	-	2	1352	c.935C>T	c.(934-936)tCa>tTa	p.S312L	OR52A1_ENST00000328942.1_Missense_Mutation_p.S312L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	312					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGATTTTATGAACAGAACAT	0.348000													41	53					0	0	0.014410	0	0
LOC100131496	100131496	broad.mit.edu	37	20	45947811	45947811	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:45947811G>A	ENST00000599904.1	+	1	566	c.447G>A	c.(445-447)ggG>ggA	p.G149G	ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000352431.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000540497.1_Intron																							CTCTCCCAGGGGGAGGAGGAA	0.597000													4	9					0	0	0.009096	0	0
SPAG17	200162	broad.mit.edu	37	1	118535252	118535252	+	Missense_Mutation	SNP	G	G	A	rs147490539		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:118535252G>A	ENST00000336338.5	-	36	5263	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1733						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTACCAAACGGAGGTCCTGG	0.413000													13	11					0	0	0.002450	0	0
DHX58	79132	broad.mit.edu	37	17	40255626	40255626	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:40255626G>A	ENST00000251642.3	-	12	1976	c.1754_splice	c.e12+1	p.S585_splice		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	585	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGGTCTCACGAGAAGTTGGG	0.567000													11	17					0	0	0.008291	0	0
COL22A1	169044	broad.mit.edu	37	8	139618686	139618686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:139618686C>T	ENST00000303045.6	-	58	4488	c.4042G>A	c.(4042-4044)Gga>Aga	p.G1348R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1328R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1348	Collagen-like 13.|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)			CCTTTGCTTCCTTTCTGGCCC	0.527000										HNSCC(7;0.00092)			7	26					0	0	0.003080	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522207	6522207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:6522207C>T	ENST00000377782.3	-	9	866	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	TNFRSF25_ENST00000351748.3_Missense_Mutation_p.A75T|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.A258T|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.A213T|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.A221T	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	258					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGTGTGGGCGCTGTCCAAG	0.637000													42	39					0	0	0.014410	0	0
ATP2C2	9914	broad.mit.edu	37	16	84432141	84432141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:84432141G>A	ENST00000416219.2	+	2	225	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ATP2C2_ENST00000262429.4_Missense_Mutation_p.E46K			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	46					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATCGAGAAAGAGAAGAAGGT	0.433000													17	18					0	0	0.006122	0	0
RP1	6101	broad.mit.edu	37	8	55542625	55542625	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:55542625C>T	ENST00000220676.1	+	4	6331	c.6183C>T	c.(6181-6183)atC>atT	p.I2061I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2061					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAATGAAATCTTTAAAGCAG	0.348000													19	21					0	0	0.006122	0	0
MUC2	4583	broad.mit.edu	37	11	1096455	1096455	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:1096455C>T	ENST00000441003.2	+	34	6507	c.6480C>T	c.(6478-6480)atC>atT	p.I2160I	MUC2_ENST00000361558.6_Silent_p.I298I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4522						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTTTACATCGACAACTACC	0.572000													14	33					0	0	0.003163	0	0
SIRPD	128646	broad.mit.edu	37	20	1538283	1538283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:1538283G>A	ENST00000381623.3	-	1	1206	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SIRPD_ENST00000381621.1_Missense_Mutation_p.S6F|RP4-576H24.4_ENST00000564763.1_Intron			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	6						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GTGGAGTGGGGAGGCAGGGAT	0.577000													26	44					0	0	0.006320	0	0
TRO	7216	broad.mit.edu	37	X	54949023	54949023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:54949023C>T	ENST00000173898.7	+	3	170	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.P20S|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.P20S|TRO_ENST00000420798.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	20					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCCTCTGCCTCCCCCGGGGAG	0.577000													5	29					0	0	0.000602	0	0
CCER1	196477	broad.mit.edu	37	12	91348005	91348005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:91348005G>A	ENST00000358859.2	-	1	948	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CAGCTTGACCGGCCGCGGCAG	0.667000													26	24					0	0	0.012213	0	0
SMG7	9887	broad.mit.edu	37	1	183502377	183502377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:183502377C>T	ENST00000367537.3	+	10	1204	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	SMG7_ENST00000507469.1_Missense_Mutation_p.L308F|SMG7_ENST00000515829.2_Missense_Mutation_p.L308F|SMG7_ENST00000456731.2_Missense_Mutation_p.L266F|SMG7_ENST00000508461.1_Missense_Mutation_p.L266F|SMG7_ENST00000347615.2_Missense_Mutation_p.L308F			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	308					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTTCATCACCTTCGTGACTT	0.423000													56	105					0	0	0.014410	0	0
CAT	847	broad.mit.edu	37	11	34477579	34477579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:34477579C>T	ENST00000241052.4	+	7	822	c.733C>T	c.(733-735)Ctt>Ttt	p.L245F		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	245					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CATCAAAAACCTTTCTGTTGA	0.423000													25	38					0	0	0.006320	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222446	142222446	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:142222446G>A	ENST00000519067.1	-	7	2301	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	SLC45A4_ENST00000433583.2_Silent_p.P659P|SLC45A4_ENST00000517878.1_Silent_p.P717P|SLC45A4_ENST00000024061.3_Silent_p.P666P			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	717					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGACACGTTGGGATAGATCA	0.642000													30	33					0	0	0.012213	0	0
OR2J2	26707	broad.mit.edu	37	6	29141771	29141771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:29141771C>T	ENST00000377167.2	+	1	461	c.359C>T	c.(358-360)tCa>tTa	p.S120L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTGGTGATGTCATATGATCGT	0.483000													37	116					0	0	0.006999	0	0
PIGV	55650	broad.mit.edu	37	1	27121283	27121283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:27121283C>T	ENST00000374145.1	+	3	1440	c.758C>T	c.(757-759)gCc>gTc	p.A253V	PIGV_ENST00000078527.4_Missense_Mutation_p.A253V|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	253					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTTCCCTTTGCCCTCTTTCAG	0.512000													81	80					0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175046761	175046761	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175046761G>A	ENST00000239462.4	+	2	320	c.207G>A	c.(205-207)ggG>ggA	p.G69G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	69					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGACGATGGGGCTTCGCTCT	0.587000													7	47					0	0	0.001984	0	0
YLPM1	56252	broad.mit.edu	37	14	75265067	75265067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:75265067C>T	ENST00000325680.7	+	5	3191	c.3067C>T	c.(3067-3069)Cct>Tct	p.P1023S	YLPM1_ENST00000238571.3_Missense_Mutation_p.P828S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	828	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTACAGAGGTCCTGGGCAAAG	0.483000													27	52					0	0	0.005443	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871733	65871733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:65871733C>T	ENST00000395325.3	+	16	2394	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.P803L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.P733L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	746	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CACTCCTCTCCCCAGAACCGA	0.592000													38	28					0	0	0.004289	0	0
OR1S1	219959	broad.mit.edu	37	11	57982436	57982436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:57982436C>T	ENST00000309433.6	+	1	220	c.220C>T	c.(220-222)Ctc>Ttc	p.L74F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCCCATGTATCTCTTCCTTGC	0.438000													30	38					0	0	0.009535	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540187	169540187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169540187G>A	ENST00000340806.6	+	1	478	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	160										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTGCCCAAGGAAATAGTGAA	0.502000													38	30					0	0	0.006230	0	0
AQP8	343	broad.mit.edu	37	16	25232792	25232792	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:25232792A>G	ENST00000219660.5	+	3	400	c.275A>G	c.(274-276)aAc>aGc	p.N92S	AQP8_ENST00000566125.1_Missense_Mutation_p.N86S	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	92					cellular response to cAMP	integral to plasma membrane	water channel activity	p.N92S(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GGACACTTCAACCCTGCGGTG	0.617000													55	74					0	0	0.014410	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550331	2550331	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2550331C>T	ENST00000567020.1	+	6	1487	c.1347C>T	c.(1345-1347)ccC>ccT	p.P449P	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Silent_p.P455P|TBC1D24_ENST00000434757.2_Silent_p.P455P	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	455	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGACCAAGCCCCCACCCTTGA	0.697000													13	18					0	0	0.001855	0	0
MAP4K1	11184	broad.mit.edu	37	19	39104894	39104894	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:39104894C>T	ENST00000591517.1	-	6	436	c.408G>A	c.(406-408)agG>agA	p.R136R	MAP4K1_ENST00000589130.1_Silent_p.R132R|MAP4K1_ENST00000586296.1_Silent_p.R136R|MAP4K1_ENST00000396857.2_Silent_p.R136R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	136	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.R136S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTGATGTCCCTGTGTATCT	0.607000													23	59					0	0	0.003954	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730376	15730376	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15730376G>A	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TAGGTGGACGGGACGGGGACC	0.532000													4	28					0	0	0.009096	0	0
OR4D5	219875	broad.mit.edu	37	11	123811205	123811205	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123811205G>A	ENST00000307033.2	+	1	956	c.882G>A	c.(880-882)gtG>gtA	p.V294V		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACAAGGAAGTGATCATGGCCA	0.502000													55	46					0	0	0.014410	0	0
RC3H1	149041	broad.mit.edu	37	1	173953695	173953695	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:173953695T>G	ENST00000367696.2	-	3	645	c.294A>C	c.(292-294)gaA>gaC	p.E98D	RC3H1_ENST00000258349.4_Missense_Mutation_p.E98D|RC3H1_ENST00000367694.2_Missense_Mutation_p.E98D			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	98					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATTTCTTGGCTTCCTCATAAT	0.393000													19	31					0	0	0.007413	0	0
IL23R	149233	broad.mit.edu	37	1	67724795	67724795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:67724795C>T	ENST00000347310.5	+	11	2045	c.1874C>T	c.(1873-1875)tCa>tTa	p.S625L	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.S370L	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	625					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AATAGGATTTCACTCTTGGAA	0.378000													9	9					0	0	0.006214	0	0
DNAH3	55567	broad.mit.edu	37	16	21133373	21133373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21133373C>T	ENST00000261383.3	-	10	1476	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E493K|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	493	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCACTGACTTCAAGTTTGATC	0.398000													37	46					0	0	0.004289	0	0
FAM71B	153745	broad.mit.edu	37	5	156589773	156589773	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:156589773G>A	ENST00000302938.4	-	2	1598	c.1503C>T	c.(1501-1503)acC>acT	p.T501T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	501						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAGCTGTGGGTGGAGCTCT	0.488000													190	302					0	0	0.014410	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624166	128624166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:128624166G>A	ENST00000371122.4	-	15	1948	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R595*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R595*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	607	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGATGTGCTCGATCCTAGTAG	0.328000													10	41					0	0	0.002450	0	0
ZNF599	148103	broad.mit.edu	37	19	35258311	35258311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35258311G>A	ENST00000587354.1	-	3	538	c.151C>T	c.(151-153)Cct>Tct	p.P51S	ZNF599_ENST00000588760.1_Missense_Mutation_p.P51S|ZNF599_ENST00000329285.7_Missense_Mutation_p.P51S			Q96NL3	ZN599_HUMAN	zinc finger protein 599	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGGGAACAGGATGCCCTGTG	0.458000													18	10					0	0	0.007413	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550330	2550330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2550330C>T	ENST00000567020.1	+	6	1486	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Missense_Mutation_p.P455L|TBC1D24_ENST00000434757.2_Missense_Mutation_p.P455L	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	455	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CTGACCAAGCCCCCACCCTTG	0.697000													13	19					0	0	0.001855	0	0
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:50592482G>A	ENST00000442544.2	+	7	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_ENST00000412726.1_Missense_Mutation_p.E251K|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E58K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	403	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E403K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438000													26	23					0	0	0.004656	0	0
PSG6	5675	broad.mit.edu	37	19	43411267	43411267	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:43411267G>A	ENST00000187910.2	-	5	1112	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG6_ENST00000402603.4_Silent_p.L256L|PSG6_ENST00000292125.2_Silent_p.L349L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGACAAGTCGAGGTTTTCTC	0.463000													135	105					0	0	0.014410	0	0
DNM3	26052	broad.mit.edu	37	1	171958197	171958197	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:171958197G>A	ENST00000358155.4	+	4	674	c.498G>A	c.(496-498)agG>agA	p.R166R	DNM3_ENST00000520906.1_Silent_p.R166R|DNM3_ENST00000367733.2_Silent_p.R166R|DNM3_ENST00000367731.1_Silent_p.R166R|DNM3_ENST00000355305.5_Silent_p.R166R	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	166					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCATCACGAGGGAGAACTGTC	0.443000													7	13					0	0	0.003080	0	0
THSD4	79875	broad.mit.edu	37	15	71535119	71535119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:71535119C>T	ENST00000355327.3	+	5	730	c.596C>T	c.(595-597)tCc>tTc	p.S199F	THSD4_ENST00000261862.6_Missense_Mutation_p.S199F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCGCCATTCCAGGTCCCAG	0.567000													45	58					0	0	0.009718	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634036	70634036	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:70634036G>A	ENST00000381269.2	-	2	1857	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	SLC8A3_ENST00000534137.1_Silent_p.I368I|SLC8A3_ENST00000356921.2_Silent_p.I368I|SLC8A3_ENST00000357887.3_Silent_p.I368I|SLC8A3_ENST00000528359.1_Silent_p.I368I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	368					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTTTCTTCAGGATATTGCCTG	0.507000													47	57					0	0	0.014410	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740932	140740932	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140740932G>A	ENST00000522605.1	+	1	1230	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGCGCTCTGGACCGGGAGG	0.498000													30	52					0	0	0.012213	0	0
KRT73	319101	broad.mit.edu	37	12	53011880	53011880	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53011880G>A	ENST00000305748.3	-	1	463	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	143	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAAGGAGGCGAACTTGTTGT	0.542000													76	66					0	0	0.014410	0	0
TRIM73	375593	broad.mit.edu	37	7	75028289	75028289	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:75028289G>A	ENST00000323819.3	+	2	272	c.72G>A	c.(70-72)aaG>aaA	p.K24K	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000447409.2_Silent_p.K24K|TRIM73_ENST00000430211.1_Silent_p.K24K|TRIM73_ENST00000437796.1_Silent_p.K24K|TRIM73_ENST00000463766.1_3'UTR	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	24						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGTCTTCAAGGAGTCCCTAA	0.617000													29	66					0	0	0.008361	0	0
NLRP7	199713	broad.mit.edu	37	19	55451766	55451766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55451766C>T	ENST00000588756.1	-	6	907	c.421G>A	c.(421-423)Gga>Aga	p.G141R	NLRP7_ENST00000592784.1_Missense_Mutation_p.G141R|NLRP7_ENST00000590030.1_Missense_Mutation_p.G141R|NLRP7_ENST00000340844.2_Missense_Mutation_p.G141R|NLRP7_ENST00000448121.2_Missense_Mutation_p.G141R|NLRP7_ENST00000446217.1_Missense_Mutation_p.G169R|NLRP7_ENST00000328092.5_Missense_Mutation_p.G141R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	141							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAATGTCTCCTTGCCAAAAG	0.458000													228	204					0	0	0.014410	0	0
RGS16	6004	broad.mit.edu	37	1	182571108	182571108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:182571108G>A	ENST00000367558.5	-	4	528	c.380C>T	c.(379-381)cCt>cTt	p.P127L		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	127	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AACCTCTTTAGGGGCCTCACT	0.562000											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	103					0	0	0.014410	0	0
SEMA3E	9723	broad.mit.edu	37	7	83022001	83022001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:83022001G>A	ENST00000307792.3	-	14	2004	c.1537C>T	c.(1537-1539)Caa>Taa	p.Q513*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.Q453*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	513	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AATCTGACTTGAGCCACAGCA	0.483000													23	25					0	0	0.014323	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388051	41388051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41388051G>A	ENST00000301146.4	-	1	606	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.S22F	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	22						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGCCAGACAGACATCAAGAC	0.582000													41	32					0	0	0.011902	0	0
BCAR1	9564	broad.mit.edu	37	16	75263556	75263556	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:75263556G>A	ENST00000546196.1	-	7	4031	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	BCAR1_ENST00000538440.2_Silent_p.L822L|BCAR1_ENST00000535626.2_Silent_p.L674L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Silent_p.L822L|BCAR1_ENST00000418647.3_Silent_p.L868L|BCAR1_ENST00000420641.3_Silent_p.L840L|BCAR1_ENST00000393420.6_Silent_p.L840L|BCAR1_ENST00000393422.2_Silent_p.L840L|BCAR1_ENST00000542031.2_Silent_p.L820L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	822	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCCGCGCAGGAGGTCGCACA	0.657000													12	20					0	0	0.001855	0	0
RP1L1	94137	broad.mit.edu	37	8	10469082	10469082	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:10469082G>A	ENST00000382483.3	-	4	2749	c.2526C>T	c.(2524-2526)tcC>tcT	p.S842S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	842					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TAGCCTCAGGGGAGGGTCCCC	0.726000													8	11					0	0	0.003080	0	0
CD1B	910	broad.mit.edu	37	1	158299694	158299694	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158299694G>A	ENST00000368168.3	-	3	662	c.555C>T	c.(553-555)ccC>ccT	p.P185P		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	185	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGAGATATCGGGGGCAGGTTT	0.468000													35	139					0	0	0.003271	0	0
ATP4A	495	broad.mit.edu	37	19	36050083	36050083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:36050083G>A	ENST00000262623.3	-	8	1095	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	356					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGTCAGGGACAGGCAGAC	0.622000													41	77					0	0	0.007835	0	0
DOCK3	1795	broad.mit.edu	37	3	51394410	51394410	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:51394410G>A	ENST00000266037.9	+	44	4544	c.4521G>A	c.(4519-4521)ctG>ctA	p.L1507L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1507	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGCCCTCTGGAGAATGCCA	0.507000													8	24					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40770601	40770601	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:40770601C>T	ENST00000373198.3	-	19	3025	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	PTPRT_ENST00000373187.1_Silent_p.K908K|PTPRT_ENST00000373193.3_Silent_p.K911K|PTPRT_ENST00000356100.2_Silent_p.K917K|PTPRT_ENST00000373184.1_Silent_p.K898K|PTPRT_ENST00000373190.1_Silent_p.K907K|PTPRT_ENST00000373201.1_Silent_p.K898K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	908	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTCATCCTCCTTGGCTGTGT	0.502000													89	120					0	0	0.014410	0	0
ERP27	121506	broad.mit.edu	37	12	15091353	15091353	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:15091353G>A	ENST00000266397.2	-	1	663	c.90C>T	c.(88-90)tcC>tcT	p.S30S		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	30						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTTACCTGAGGATTTCTcaa	0.478000													10	45					0	0	0.010729	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374792	8374792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:8374792C>T	ENST00000538603.1	-	7	1579	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G341R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	341							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTACGTGGTCCAAGTTCGGTT	0.667000													8	6					0	0	0.010729	0	0
ACADM	34	broad.mit.edu	37	1	76190487	76190487	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:76190487C>T	ENST00000370841.4	+	1	452	c.15C>T	c.(13-15)ttC>ttT	p.F5F	ACADM_ENST00000370834.5_Silent_p.F5F|ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000541113.1_5'UTR|ACADM_ENST00000420607.2_Silent_p.F5F	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	5					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						CAGCGGGGTTCGGGCGATGCT	0.647000													34	25					0	0	0.005524	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729981	140729981	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140729981C>T	ENST00000523390.1	+	1	154	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAAGGATCTGGGGCTCAG	0.547000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	0.001168	0	0
OR2T6	254879	broad.mit.edu	37	1	248551397	248551397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248551397C>T	ENST00000355728.2	+	1	488	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ACCCCCATTACCATGAGTCTC	0.552000													20	24					0	0	0.008871	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004031	126004031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:126004031G>A	ENST00000299308.3	+	4	1146	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	380						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTTGGAATTGATAATAGCAG	0.463000													25	63					0	0	0.004656	0	0
PDZD2	23037	broad.mit.edu	37	5	32090902	32090902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:32090902G>A	ENST00000438447.1	+	20	7736	c.7348G>A	c.(7348-7350)Gga>Aga	p.G2450R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2450R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2450					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGTCCTTTGGGAATTCCCAC	0.557000													42	54					0	0	0.011902	0	0
HYOU1	10525	broad.mit.edu	37	11	118916502	118916502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118916502G>A	ENST00000404233.3	-	25	3053	c.2929C>T	c.(2929-2931)Cct>Tct	p.P977S	HYOU1_ENST00000525859.1_Missense_Mutation_p.P915S|HYOU1_ENST00000529972.1_Missense_Mutation_p.P915S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	977						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCTGCTCCAGGACCTCCTAAC	0.562000													10	47					0	0	0.010729	0	0
DSCAM	1826	broad.mit.edu	37	21	41550985	41550985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:41550985G>A	ENST00000400454.1	-	15	3293	c.2816C>T	c.(2815-2817)tCc>tTc	p.S939F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	939	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTGAGGGGAAACATCTTT	0.483000													40	65					0	0	0.013114	0	0
OR2T1	26696	broad.mit.edu	37	1	248570395	248570395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248570395G>A	ENST00000366474.1	+	1	1100	c.1100G>A	c.(1099-1101)gGt>gAt	p.G367D		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	367					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GTGTCAGGAGGTGTCTTTTGA	0.507000													27	118					0	0	0.003954	0	0
LRP1B	53353	broad.mit.edu	37	2	141143519	141143519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:141143519G>A	ENST00000389484.3	-	67	11445	c.10474C>T	c.(10474-10476)Cac>Tac	p.H3492Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3492	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCGCCAGTGATCGGGAATA	0.383000										TSP Lung(27;0.18)			51	37					0	0	0.014410	0	0
NUTM1	256646	broad.mit.edu	37	15	34640725	34640725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:34640725C>T	ENST00000537011.1	+	3	1038	c.656C>T	c.(655-657)cCt>cTt	p.P219L	NUTM1_ENST00000333756.4_Missense_Mutation_p.P191L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P209L					NUT midline carcinoma, family member 1																		GAAGGAGGTCCTGTGGCCACT	0.572000													21	31					0	0	0.014323	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871384	20871384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20871384G>A	ENST00000324344.3	-	3	1024	c.739C>T	c.(739-741)Ctt>Ttt	p.L247F	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.L247F|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	247	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTGAAGTTAAGGAACATGTTC	0.517000													61	45					0	0	0.014410	0	0
IL6ST	3572	broad.mit.edu	37	5	55237545	55237545	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:55237545G>A	ENST00000381298.2	-	17	2434	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	IL6ST_ENST00000381294.3_Silent_p.L647L|IL6ST_ENST00000336909.5_Silent_p.L708L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Silent_p.L708L|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	708					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AATGATTTCAGATCTTCTGGA	0.363000			O		hepatocellular ca								28	57					0	0	0.007291	0	0
ABCB11	8647	broad.mit.edu	37	2	169833113	169833113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:169833113G>A	ENST00000263817.6	-	12	1406	c.1282C>T	c.(1282-1284)Cat>Tat	p.H428Y		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	428	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GAAGGATAATGGAAGGTCACA	0.398000													11	39					0	0	0.010729	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172131	81172131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:81172131G>A	ENST00000394685.3	+	5	735	c.316G>A	c.(316-318)Gag>Aag	p.E106K	KIAA1199_ENST00000220244.3_Missense_Mutation_p.E106K|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E106K			Q8WUJ3	K1199_HUMAN	KIAA1199	106	G8.									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						CAACGGAGGAGAGCTGCATGC	0.527000													20	59					0	0	0.008871	0	0
THSD7B	80731	broad.mit.edu	37	2	137814025	137814025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:137814025G>A	ENST00000409968.1	+	3	353	c.175G>A	c.(175-177)Gga>Aga	p.G59R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G28R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G59R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTGGTCCCGGAGGAGTCCA	0.493000													10	35					0	0	0.010729	0	0
MYPN	84665	broad.mit.edu	37	10	69882036	69882036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:69882036C>T	ENST00000358913.5	+	2	1329	c.841C>T	c.(841-843)Cca>Tca	p.P281S	MYPN_ENST00000540630.1_Missense_Mutation_p.P281S|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.P281S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	281	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGAGAAGTTCCAGAAGGAAC	0.468000													38	7					0	0	0.004878	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68214699	68214699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:68214699C>T	ENST00000262215.3	-	2	516	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	43					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTTTATTTCCTCTGAGGGG	0.308000													23	21					0	0	0.008361	0	0
RPN1	6184	broad.mit.edu	37	3	128344386	128344386	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:128344386G>A	ENST00000296255.3	-	8	1434	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	RPN1_ENST00000497289.1_Silent_p.S290S	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	462					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CCTTGGTGATGGAGAAGTCCA	0.527000			T	EVI1	AML								76	43					0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10436681	10436681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10436681C>T	ENST00000245503.5	-	21	2746	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A788T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	788	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCAGCTGGGCCAGCTTGTCA	0.463000													43	54					0	0	0.013114	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959780	45959780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:45959780C>T	ENST00000400375.1	-	1	298	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	85	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						agccggctggcagctagacTG	0.682000													28	90					0	0	0.004289	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			137	26					0	0	0.014410	0	0
LPHN3	23284	broad.mit.edu	37	4	62599214	62599214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:62599214G>A	ENST00000512091.1	+	7	1884	c.1137G>A	c.(1135-1137)tgG>tgA	p.W379*	LPHN3_ENST00000506720.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.W379*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.W447*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.W379*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	379	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTTATGTATGGAATAACTATC	0.398000													15	3					0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61832809	61832809	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:61832809C>T	ENST00000280772.1	-	37	8021	c.7830G>A	c.(7828-7830)gaG>gaA	p.E2610E	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2610					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGCCTTTTTCTCTGGGGACT	0.448000													31	4					0	0	0.013726	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311511	103311511	+	Missense_Mutation	SNP	C	C	T	rs41280603		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103311511C>T	ENST00000233969.2	+	7	1667	c.1525C>T	c.(1525-1527)Cat>Tat	p.H509Y	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	509						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GTTGTTTGATCATGTGAAGAC	0.368000													21	69					0	0	0.012319	0	0
FAM47C	442444	broad.mit.edu	37	X	37028775	37028775	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:37028775G>A	ENST00000358047.3	+	1	2344	c.2292G>A	c.(2290-2292)ccG>ccA	p.P764P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	764										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCGCCCGGAGCCTCCTG	0.622000													28	54					0	0	0.009535	0	0
TRPV6	55503	broad.mit.edu	37	7	142573418	142573418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142573418C>T	ENST00000359396.3	-	8	1170	c.925G>A	c.(925-927)Gac>Aac	p.D309N		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	309					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCGTCTGGTCCAGGATCTGG	0.597000													45	74					0	0	0.011902	0	0
INTS4P1	285905	broad.mit.edu	37	7	64643370	64643370	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:64643370C>T	ENST00000587624.1	+	0	777																											CAGAGATATTCGAGAGGCTCT	0.398000													21	16					0	0	0.002780	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158548760C>T	ENST00000368150.1	-	1	929	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000													64	111					0	0	0.014410	0	0
PTPN1	5770	broad.mit.edu	37	20	49197860	49197860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:49197860C>T	ENST00000371621.3	+	9	1321	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	PTPN1_ENST00000541713.1_Nonsense_Mutation_p.Q310*	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	383					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	TCGAGGTGCCCAGGCTGCCTC	0.577000													22	47					0	0	0.003330	0	0
FCRL5	83416	broad.mit.edu	37	1	157517185	157517185	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:157517185A>T	ENST00000356953.4	-	2	59	c.31_splice	c.e2-1	p.V11_splice	FCRL5_ENST00000361835.3_Intron|FCRL5_ENST00000368189.3_Intron|FCRL5_ENST00000368190.3_Intron|FCRL5_ENST00000368188.2_Intron|FCRL5_ENST00000368191.3_Intron			Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	11						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGGGATGGCAATGAGCAAAA	0.507000													7	5					0	0	0.001984	0	0
MYO7B	4648	broad.mit.edu	37	2	128341869	128341869	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128341869A>T	ENST00000389524.4	+	13	1569	c.1516A>T	c.(1516-1518)Atc>Ttc	p.I506F	MYO7B_ENST00000428314.1_Missense_Mutation_p.I506F|MYO7B_ENST00000409816.2_Missense_Mutation_p.I506F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	506	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCATGAGCATCATCTCCCT	0.612000													16	68					0	0	0.007413	0	0
POU2F2	5452	broad.mit.edu	37	19	42621469	42621469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42621469G>A	ENST00000389341.5	-	5	302	c.236C>T	c.(235-237)cCc>cTc	p.P79L	POU2F2_ENST00000560398.1_Missense_Mutation_p.P101L|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000529067.1_Missense_Mutation_p.P79L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P79L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P79L|POU2F2_ENST00000529952.1_Missense_Mutation_p.P79L|POU2F2_ENST00000526816.2_Missense_Mutation_p.P79L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	79					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CGGCTGAGGGGGCAGGGGTGC	0.652000													31	63					0	0	0.007291	0	0
PRSS22	64063	broad.mit.edu	37	16	2903233	2903233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:2903233G>A	ENST00000161006.3	-	6	880	c.815C>T	c.(814-816)cCc>cTc	p.P272L	PRSS22_ENST00000571228.1_Missense_Mutation_p.P162L	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	272	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTAGACCCCGGGCCTGTTGCG	0.726000													12	34					0	0	0.013537	0	0
ASS1	445	broad.mit.edu	37	9	133355822	133355822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:133355822G>A	ENST00000372394.1	+	12	1305	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ASS1_ENST00000372393.3_Missense_Mutation_p.G275E|ASS1_ENST00000352480.5_Missense_Mutation_p.G275E|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	275					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGCTTCATTGGAATGAAGTCC	0.602000													16	3					0	0	0.006122	0	0
FIG4	9896	broad.mit.edu	37	6	110086272	110086272	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:110086272G>A	ENST00000230124.3	+	14	1615	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q	FIG4_ENST00000441478.2_Silent_p.Q220Q	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	497	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		ACACAGCACAGTTTATGGTGG	0.413000													19	39					0	0	0.008871	0	0
KCNMA1	3778	broad.mit.edu	37	10	78869955	78869955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:78869955C>T	ENST00000286627.5	-	8	2059	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	KCNMA1_ENST00000406533.3_Missense_Mutation_p.M369I|KCNMA1_ENST00000286628.8_Missense_Mutation_p.M369I|KCNMA1_ENST00000354353.5_Missense_Mutation_p.M369I|KCNMA1_ENST00000372443.1_Missense_Mutation_p.M369I|KCNMA1_ENST00000404771.3_Missense_Mutation_p.M369I|KCNMA1_ENST00000404857.1_Missense_Mutation_p.M369I|KCNMA1_ENST00000372440.1_Missense_Mutation_p.M369I	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	369					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGAAGAAGACCATGAAGAGGC	0.393000													78	21					0	0	0.014410	0	0
TRHDE	29953	broad.mit.edu	37	12	73046194	73046194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:73046194C>T	ENST00000261180.4	+	16	2729	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	878					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAATTCCATTCCACCACAGCA	0.373000													10	9					0	0	0.010729	0	0
IGFL2	147920	broad.mit.edu	37	19	46663936	46663936	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46663936C>G	ENST00000434646.2	+	4	463	c.172C>G	c.(172-174)Ccc>Gcc	p.P58A	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Missense_Mutation_p.P47A	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	47						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GATCTACAACCCCTTGGAGCA	0.597000													143	125					0	0	0.014410	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518644	113518644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:113518644C>T	ENST00000284601.3	-	4	2571	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	835					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCACATTTCTCCCTGTCATGT	0.373000													18	25					0	0	0.007413	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961104	73961104	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:73961104C>T	ENST00000373468.1	-	3	3939	c.3288G>A	c.(3286-3288)aaG>aaA	p.K1096K	KIAA2022_ENST00000055682.5_Silent_p.K1096K			Q5QGS0	K2022_HUMAN	KIAA2022	1096					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGAACCCCTTTAGTGTTC	0.502000													32	22					0	0	0.009535	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881297	228881297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228881297C>T	ENST00000392056.3	-	7	4319	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1425K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1425						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)		AAAGGCACTTCCCTCGAGCAA	0.468000													17	65					0	0	0.006122	0	0
OR10J1	26476	broad.mit.edu	37	1	159410104	159410104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:159410104C>T	ENST00000423932.3	+	1	593	c.556C>T	c.(556-558)Cac>Tac	p.H186Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	186					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AAAGGTGCCCCACTTCTTCTG	0.483000													44	100					0	0	0.013114	0	0
CELSR2	1952	broad.mit.edu	37	1	109801229	109801229	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:109801229C>T	ENST00000271332.3	+	2	3547	c.3486C>T	c.(3484-3486)gaC>gaT	p.D1162D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1162					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGCCACCGGACCACGTGGTGG	0.706000													44	72					0	0	0.009718	0	0
PRPF19	27339	broad.mit.edu	37	11	60671330	60671330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:60671330G>A	ENST00000227524.4	-	2	228	c.23C>T	c.(22-24)tCt>tTt	p.S8F		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	8	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CACTTCGTTAGAGACTGTAGA	0.512000													29	25					0	0	0.003271	0	0
PDE7B	27115	broad.mit.edu	37	6	136468578	136468578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:136468578C>T	ENST00000308191.6	+	4	559	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	86					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGCTGCTTCGTGGAATTAT	0.483000													41	34					0	0	0.013114	0	0
CDH4	1002	broad.mit.edu	37	20	60448842	60448842	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:60448842G>A	ENST00000360469.5	+	7	1024	c.936G>A	c.(934-936)ggG>ggA	p.G312G	CDH4_ENST00000543233.1_Silent_p.G238G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	312	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGCCAACGGGATGGTGCGGT	0.607000													50	66					0	0	0.014410	0	0
DCAF5	8816	broad.mit.edu	37	14	69522036	69522036	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:69522036T>A	ENST00000341516.5	-	9	1514	c.1367A>T	c.(1366-1368)tAc>tTc	p.Y456F	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.Y455F|DCAF5_ENST00000556847.1_Missense_Mutation_p.Y374F|DCAF5_ENST00000554215.1_Missense_Mutation_p.Y374F	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	456						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGAGTCAGTGTAGCCTGAGCG	0.622000													21	30					0	0	0.014323	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063325	76063325	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:76063325C>A	ENST00000260045.3	-	5	974	c.869G>T	c.(868-870)aGa>aTa	p.R290I		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	290					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAATTCCTCTCTTAGGTTATG	0.413000													10	19					1.08611e-07	1.43004e-07	0.010729	1	0
TRIT1	54802	broad.mit.edu	37	1	40323052	40323052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:40323052G>A	ENST00000316891.5	-	2	226	c.212C>T	c.(211-213)tCt>tTt	p.S71F	TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.S71F|TRIT1_ENST00000544981.1_Missense_Mutation_p.S71F|TRIT1_ENST00000537440.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	71					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTTGGGCAGAAACCTTGTT	0.438000													13	23					0	0	0.004007	0	0
ZFHX3	463	broad.mit.edu	37	16	72984558	72984558	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:72984558A>C	ENST00000268489.5	-	3	3698	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V95G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1009					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACTTCTGCACGTGCTTGTC	0.602000													29	28					0	0	0.008361	0	0
CAP2	10486	broad.mit.edu	37	6	17507875	17507875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:17507875C>T	ENST00000229922.2	+	6	980	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	CAP2_ENST00000465994.1_Intron|CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.P124S|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	150					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTCTCAGTCTCCCAAACCTGG	0.423000													53	35					0	0	0.014410	0	0
NLRP1	22861	broad.mit.edu	37	17	5424849	5424849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:5424849G>A	ENST00000345221.3	-	13	4332	c.3778C>T	c.(3778-3780)Cgg>Tgg	p.R1260W	NLRP1_ENST00000269280.4_Missense_Mutation_p.R1260W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R1230W|NLRP1_ENST00000262467.5_Missense_Mutation_p.R1264W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R1260W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1230W	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1260					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.R1260W(2)|p.R1264W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCACCTTCCGAATGGAGCAG	0.562000													36	38					0	0	0.003755	0	0
THSD7A	221981	broad.mit.edu	37	7	11676277	11676277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:11676277G>A	ENST00000423059.3	-	2	753	c.502C>T	c.(502-504)Cct>Tct	p.P168S	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	168						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTCCGCAGGAATGTCTTTG	0.478000										HNSCC(18;0.044)			35	39					0	0	0.005524	0	0
MARCH11	441061	broad.mit.edu	37	5	16177888	16177888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:16177888G>A	ENST00000332432.8	-	2	839	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	214						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						TAACAGCAAAGTTCACAGGTC	0.398000													26	43					0	0	0.006320	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211155	45211155	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:45211155C>T	ENST00000587331.1	+	6	1178	c.963C>T	c.(961-963)atC>atT	p.I321I	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.I321I	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	321										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCACGATGATCGTGCCCGTGC	0.652000													42	102					0	0	0.010771	0	0
PTPRF	5792	broad.mit.edu	37	1	44083153	44083153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:44083153C>T	ENST00000359947.4	+	24	4449	c.4109C>T	c.(4108-4110)tCa>tTa	p.S1370L	PTPRF_ENST00000422171.2_Missense_Mutation_p.S729L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.S1361L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1361L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1370L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1370	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGGAGAATTCAAACCTGGAG	0.557000													29	66					0	0	0.008361	0	0
PTPN9	5780	broad.mit.edu	37	15	75782617	75782617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:75782617G>A	ENST00000306726.2	-	8	1506	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	332	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCCCATAACGGTTTTTCTCT	0.418000													70	86					0	0	0.014410	0	0
ANGPT1	284	broad.mit.edu	37	8	108264095	108264095	+	Silent	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:108264095A>T	ENST00000520734.1	-	8	1170	c.885T>A	c.(883-885)ccT>ccA	p.P295P	ANGPT1_ENST00000520052.1_Silent_p.P294P|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	495	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAAAATCTAAAGGTCGAATCA	0.418000													29	40					0	0	0.008361	0	0
CALB2	794	broad.mit.edu	37	16	71423652	71423652	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71423652G>A	ENST00000302628.4	+	11	777	c.699_splice	c.e11-1	p.E234_splice	CALB2_ENST00000349553.5_3'UTR	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	234							calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TATTTCCTAGGAAATGAATAT	0.522000													126	183					0	0	0.014410	0	0
SCOC	60592	broad.mit.edu	37	4	141300277	141300277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:141300277C>T	ENST00000394203.3	+	2	251	c.73C>T	c.(73-75)Cat>Tat	p.H25Y	SCOC_ENST00000338517.4_Missense_Mutation_p.H25Y|SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000512749.1_5'UTR|SCOC_ENST00000506597.1_Missense_Mutation_p.H62Y|SCOC_ENST00000394205.3_Missense_Mutation_p.H25Y|SCOC_ENST00000502535.1_5'UTR|SCOC_ENST00000394201.3_Missense_Mutation_p.H62Y	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	62						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					TATTGTAGACCATTCCTCAAG	0.328000													57	20					0	0	0.014410	0	0
CFAP54	144535	broad.mit.edu	37	12	97133771	97133771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:97133771G>A	ENST00000524981.3	+	18	2356	c.2356G>A	c.(2356-2358)Gat>Aat	p.D786N				Q6ZTY8	CL063_HUMAN		760										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACTTCTCCAGGATTCAAAACT	0.308000													17	13					0	0	0.008871	0	0
SRRM1	10250	broad.mit.edu	37	1	24978983	24978983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:24978983G>A	ENST00000323848.9	+	7	1099	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.E131K|SRRM1_ENST00000447431.2_Missense_Mutation_p.E262K|SRRM1_ENST00000374389.4_Missense_Mutation_p.E262K	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	262	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACCTTCTCCGGAAAAAAATTC	0.443000													35	18					0	0	0.004289	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238645	179238645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179238645C>T	ENST00000190611.4	+	15	1800	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	OSBPL6_ENST00000409631.1_Missense_Mutation_p.P439L|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P439L|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P444L|OSBPL6_ENST00000357080.4_Missense_Mutation_p.P408L|OSBPL6_ENST00000315022.2_Missense_Mutation_p.P479L|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P500L	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	475					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCAGTCTCCCCTTATCACAG	0.468000													37	15					0	0	0.004289	0	0
CCDC40	55036	broad.mit.edu	37	17	78055760	78055760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:78055760C>T	ENST00000397545.4	+	12	1919	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	CCDC40_ENST00000374877.3_Missense_Mutation_p.A631V	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	631					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACGGATGCTGCCATCCGGGAG	0.557000													15	19					0	0	0.002450	0	0
ECEL1	9427	broad.mit.edu	37	2	233349717	233349717	+	Silent	SNP	G	G	A	rs36035767		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:233349717G>A	ENST00000304546.1	-	4	1150	c.940C>T	c.(940-942)Ctg>Ttg	p.L314L	ECEL1_ENST00000409941.1_Silent_p.L314L	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	314					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCCACTTGCAGGATCTCTTGG	0.627000													57	21					0	0	0.014410	0	0
MPP1	4354	broad.mit.edu	37	X	154020511	154020511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:154020511C>T	ENST00000413259.3	-	3	454	c.62G>A	c.(61-63)gGg>gAg	p.G21E	MPP1_ENST00000369534.3_Missense_Mutation_p.G51E|MPP1_ENST00000393531.1_Missense_Mutation_p.G51E|MPP1_ENST00000462825.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	51					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCAGGAGACCCGTTGGTGTA	0.532000													23	48					0	0	0.003330	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:43519497G>A	ENST00000401740.1	-	4	838	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG11_ENST00000403486.1_Silent_p.F123F|PSG11_ENST00000320078.7_Silent_p.F245F|PSG11_ENST00000306322.7_Silent_p.F123F			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	245	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACTGAAGGGAAAATTCTGG	0.473000													72	59					0	0	0.014410	0	0
BCL9L	283149	broad.mit.edu	37	11	118772485	118772485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118772485G>A	ENST00000334801.3	-	6	2931	c.1967C>T	c.(1966-1968)aCc>aTc	p.T656I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	656					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GTAGGGCATGGTGTTCTGGGC	0.642000													5	36					0	0	0.000602	0	0
EEF1D	1936	broad.mit.edu	37	8	144672139	144672139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144672139G>A	ENST00000532741.1	-	1	491	c.263C>T	c.(262-264)tCc>tTc	p.S88F	EEF1D_ENST00000442189.2_Missense_Mutation_p.S38F|EEF1D_ENST00000423316.2_Missense_Mutation_p.S38F|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000526838.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCTGGGCGGAGGCGGCCGC	0.687000													11	12					0	0	0.010729	0	0
ORC4	5000	broad.mit.edu	37	2	148716422	148716422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:148716422G>A	ENST00000535373.1	-	6	671	c.239C>T	c.(238-240)gCt>gTt	p.A80V	ORC4_ENST00000540442.1_Missense_Mutation_p.A6V|ORC4_ENST00000536575.1_5'UTR|ORC4_ENST00000542387.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.A80V|ORC4_ENST00000392858.1_Missense_Mutation_p.A80V|ORC4_ENST00000392857.4_Missense_Mutation_p.A80V	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	80					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTCTTTCAAAGCATGATTTAT	0.264000													6	11					0	0	0.001168	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521712	70521712	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:70521712A>G	ENST00000373829.3	+	1	129	c.56A>G	c.(55-57)aAc>aGc	p.N19S	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	19	CHORD 1.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CCTAATACCAACCTTCCTGGT	0.522000													13	40					0	0	0.001855	0	0
OR14I1	401994	broad.mit.edu	37	1	248845270	248845270	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248845270G>A	ENST00000342623.3	-	1	359	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACAGTAAGGAAGGCCAGCT	0.507000													10	44					0	0	0.006214	0	0
TET3	200424	broad.mit.edu	37	2	74317124	74317124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:74317124C>T	ENST00000409262.3	+	5	2584	c.2584C>T	c.(2584-2586)Cgg>Tgg	p.R862W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	862							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGTATGCTCGGAGCAAGAC	0.607000													169	54					0	0	0.014410	0	0
PRG4	10216	broad.mit.edu	37	1	186266058	186266058	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:186266058C>T	ENST00000445192.2	+	2	96	c.51C>T	c.(49-51)ttC>ttT	p.F17F	PRG4_ENST00000367485.4_Silent_p.F17F|PRG4_ENST00000367486.3_Silent_p.F17F|PRG4_ENST00000367484.3_Silent_p.F17F|PRG4_ENST00000367483.4_Silent_p.F17F	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	17					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCTGTTTTCGTGATTCAGC	0.358000													11	35					0	0	0.001855	0	0
MMD	23531	broad.mit.edu	37	17	53471727	53471727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:53471727G>A	ENST00000262065.3	-	7	981	c.685C>T	c.(685-687)Cga>Tga	p.R229*		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTAGGACTTCGGTAAAGGTAT	0.468000													95	112					0	0	0.014410	0	0
NTN5	126147	broad.mit.edu	37	19	49167017	49167017	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49167017C>A	ENST00000270235.4	-	5	1120		c.e5+1		SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5							extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GACTGTCTTACCAGAGCTATA	0.542000													16	37					3.32936e-07	4.37508e-07	0.006122	1	0
SEC22B	9554	broad.mit.edu	37	1	145109572	145109572	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:145109572C>T	ENST00000453618.1	+	0	561							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTGAAGCTGCCTTCCCTAAGA	0.438000													55	469					0	0	0.014410	0	0
FCRL1	115350	broad.mit.edu	37	1	157771924	157771924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:157771924C>T	ENST00000358292.3	-	5	718	c.667G>A	c.(667-669)Gat>Aat	p.D223N	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.D223N|FCRL1_ENST00000491942.1_Missense_Mutation_p.D223N	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCAGCACATCCTCCACTGCA	0.592000													26	54					0	0	0.004656	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883977	228883977	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228883977C>T	ENST00000392056.3	-	7	1639	c.1593G>A	c.(1591-1593)ggG>ggA	p.G531G	SPHKAP_ENST00000344657.5_Silent_p.G531G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	531						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)		CACCACTGCTCCCTGGGGGAA	0.512000													56	19					0	0	0.014410	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350640	41350640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41350640C>T	ENST00000301141.5	-	8	1219	c.1199G>A	c.(1198-1200)aGa>aAa	p.R400K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	400					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ACTGGGGTCTCTCAGCACAGA	0.537000													27	50					0	0	0.009535	0	0
PTPRD	5789	broad.mit.edu	37	9	8518124	8518124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:8518124C>T	ENST00000381196.4	-	18	1810	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	PTPRD_ENST00000397611.3_Missense_Mutation_p.D420N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D410N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D423N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D420N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D410N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D423N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D423N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D413N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D423N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D413N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	423	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCTGGACATCCCTCGGGGCA	0.498000										TSP Lung(15;0.13)			36	5					0	0	0.003755	0	0
KCNK13	56659	broad.mit.edu	37	14	90650485	90650485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:90650485G>A	ENST00000282146.4	+	2	806	c.365G>A	c.(364-366)gGa>gAa	p.G122E		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	122						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCGACAGTAGGAGGAAAAATC	0.478000													52	60					0	0	0.014410	0	0
CD8B	926	broad.mit.edu	37	2	87085197	87085197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:87085197C>T	ENST00000390655.6	-	2	444	c.386G>A	c.(385-387)gGa>gAa	p.G129E	CD8B_ENST00000393759.2_Missense_Mutation_p.G129E|CD8B_ENST00000393761.2_Missense_Mutation_p.G129E|CD8B_ENST00000331469.2_Missense_Mutation_p.G129E|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Missense_Mutation_p.G129E	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	129	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTGAGTTCCCTTCCCGAA	0.572000													9	158					0	0	0.001855	0	0
OR2T5	401993	broad.mit.edu	37	1	248651910	248651910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248651910G>A	ENST00000366473.2	+	1	26	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			TCACCAGGATGGCCAACCACA	0.478000													15	16					0	0	0.003163	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570183	61570183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:61570183G>A	ENST00000457692.1	+	9	1225	c.892G>A	c.(892-894)Gac>Aac	p.D298N	SERPINB2_ENST00000299502.4_Missense_Mutation_p.D298N	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	298					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GACCAGCAAAGACAAAATGGC	0.378000													12	9					0	0	0.013537	0	0
AGK	55750	broad.mit.edu	37	7	141315335	141315335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:141315335C>T	ENST00000355413.4	+	8	748	c.488C>T	c.(487-489)aCc>aTc	p.T163I	AGK_ENST00000535825.1_Missense_Mutation_p.T160I|AGK_ENST00000473247.1_Missense_Mutation_p.T135I	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	163	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTGAGTCATACCCTCTTTGCC	0.433000													106	131					0	0	0.014410	0	0
DCLK3	85443	broad.mit.edu	37	3	36763055	36763055	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:36763055G>A	ENST00000416516.2	-	3	2038	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	516	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGTAAGTTGGGGTCCCACACA	0.413000													36	27					0	0	0.004289	0	0
POTEE	445582	broad.mit.edu	37	2	132021862	132021862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:132021862G>A	ENST00000356920.5	+	15	2928	c.2834G>A	c.(2833-2835)gGc>gAc	p.G945D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	945	Actin-like.						ATP binding										CTGCCCGATGGCCAGGTCATC	0.602000													49	164					0	0	0.014410	0	0
OR8B12	219858	broad.mit.edu	37	11	124413431	124413431	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124413431C>T	ENST00000306842.2	-	1	144	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		AGCCCAGGTTCCCCACCACGG	0.502000													32	21					0	0	0.009535	0	0
SYNE1	23345	broad.mit.edu	37	6	152565697	152565697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152565697G>A	ENST00000367255.5	-	106	20268	c.19667C>T	c.(19666-19668)tCc>tTc	p.S6556F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S6556F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6485F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6485F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6168F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1080F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6556					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTGCATGGACGGCTGCTC	0.443000										HNSCC(10;0.0054)			31	31					0	0	0.007291	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439336	150439336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:150439336G>A	ENST00000358647.3	+	3	476	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCAAAACAGGCTGCGGGAA	0.498000													39	36					0	0	0.006230	0	0
PRC1	9055	broad.mit.edu	37	15	91527277	91527277	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:91527277A>G	ENST00000361188.5	-	3	1449	c.238T>C	c.(238-240)Tgc>Cgc	p.C80R	PRC1_ENST00000361919.3_Missense_Mutation_p.C80R|PRC1_ENST00000442656.2_Intron|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.C80R			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	80	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AACTCGCTGCACAGAGTGTTC	0.493000													328	371					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152804288	152804288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152804288C>T	ENST00000367255.5	-	14	1883	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E428K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E435K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E435K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E428K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E428K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E428K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E418K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E428K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	428					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACGGTTATTTCCTCTCTCAGG	0.473000										HNSCC(10;0.0054)			50	112					0	0	0.014410	0	0
STRIP1	85369	broad.mit.edu	37	1	110581845	110581845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:110581845C>T	ENST00000369795.3	+	4	399	c.377C>T	c.(376-378)gCc>gTc	p.A126V	STRIP1_ENST00000369796.1_Missense_Mutation_p.A31V|STRIP1_ENST00000369794.2_Missense_Mutation_p.A126V	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CGGACCCATGCCATGAGGCTC	0.522000													15	11					0	0	0.002450	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621213	41621213	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:41621213A>T	ENST00000313860.7	+	8	745	c.691A>T	c.(691-693)Agc>Tgc	p.S231C	LIMCH1_ENST00000503057.1_Missense_Mutation_p.S72C|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S231C|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S231C|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S72C|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S77C|LIMCH1_ENST00000509638.1_Missense_Mutation_p.S72C|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S231C|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S77C|LIMCH1_ENST00000509454.1_Missense_Mutation_p.S79C|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S84C|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S231C|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S77C|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S72C	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	231					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGGGAGAGGAAGCGACTCTGA	0.502000													172	40					0	0	0.014410	0	0
DIO2	1734	broad.mit.edu	37	14	80669282	80669282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:80669282C>T	ENST00000557010.1	-	4	957	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	DIO2_ENST00000438257.4_Missense_Mutation_p.R191Q|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.R227Q	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	191					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGCACATCGATCTTCCTG	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	35					0	0	0.011902	0	0
CCDC39	339829	broad.mit.edu	37	3	180334460	180334460	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:180334460G>A	ENST00000442201.2	-	18	2549	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	810					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCAAAAGACGGATTTCCTTTG	0.299000													5	6					0	0	0.000602	0	0
RTN4	57142	broad.mit.edu	37	2	55277310	55277310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:55277310C>T	ENST00000337526.6	-	1	370	c.127G>A	c.(127-129)Gag>Aag	p.E43K	RTN4_ENST00000357732.4_Missense_Mutation_p.E43K|RTN4_ENST00000354474.6_Missense_Mutation_p.E43K|RTN4_ENST00000402434.2_Missense_Mutation_p.E15K|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Missense_Mutation_p.E43K|RTN4_ENST00000394611.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	43	Poly-Glu.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						tcctcgtcctcctcttcctcc	0.711000													4	26					0	0	0.009096	0	0
ANKK1	255239	broad.mit.edu	37	11	113270695	113270695	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113270695G>A	ENST00000303941.3	+	8	2098	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	668							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGGCGGTCCAGAGGAGCACCT	0.647000													21	44					0	0	0.004656	0	0
OR4F6	390648	broad.mit.edu	37	15	102346647	102346647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:102346647C>T	ENST00000328882.4	+	1	746	c.725C>T	c.(724-726)gCt>gTt	p.A242V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGCTGTCAGCTCATGTCATT	0.343000													60	69					0	0	0.014410	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754474	140754474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140754474G>A	ENST00000517434.1	+	1	824	c.824G>A	c.(823-825)gGg>gAg	p.G275E	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCCACGGGGAAGTAACT	0.433000													9	13					0	0	0.004482	0	0
BSN	8927	broad.mit.edu	37	3	49699864	49699864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:49699864C>T	ENST00000296452.4	+	6	10700	c.10586C>T	c.(10585-10587)cCa>cTa	p.P3529L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GATACCTGCCCACAGTTCTGC	0.657000													13	48					0	0	0.002450	0	0
TWISTNB	221830	broad.mit.edu	37	7	19744493	19744493	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:19744493A>G	ENST00000222567.5	-	2	375	c.305T>C	c.(304-306)cTt>cCt	p.L102P		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	102						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AATATCTCCAAGCTCTCCCAC	0.348000													44	48					0	0	0.014410	0	0
NOS1AP	9722	broad.mit.edu	37	1	162324976	162324976	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:162324976G>A	ENST00000361897.5	+	7	997		c.e7-1		NOS1AP_ENST00000530878.1_Splice_Site	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein						regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGTTCCTGCAGGCCGCCAGCT	0.557000													52	87					0	0	0.014410	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663741	169663741	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169663741G>A	ENST00000483289.2	-	0	3553				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						GCTCCTCGTGGAAAACAAAGT	0.473000													56	37					0	0	0.014410	0	0
SOX6	55553	broad.mit.edu	37	11	16119222	16119222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:16119222G>A	ENST00000352083.6	-	8	988	c.911C>T	c.(910-912)cCc>cTc	p.P304L	SOX6_ENST00000396356.3_Missense_Mutation_p.P304L|SOX6_ENST00000316399.6_Missense_Mutation_p.P304L|SOX6_ENST00000528252.1_Missense_Mutation_p.P304L|SOX6_ENST00000527619.1_Missense_Mutation_p.P307L|SOX6_ENST00000528429.1_Missense_Mutation_p.P304L			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	304					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAACTGTACGGGGTAGTTATC	0.463000													3	5					0	0	0.004672	0	0
NOS1	4842	broad.mit.edu	37	12	117768733	117768733	+	Missense_Mutation	SNP	G	G	A	rs80348085		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:117768733G>A	ENST00000317775.6	-	2	827	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	NOS1_ENST00000344089.3_Missense_Mutation_p.R48C|NOS1_ENST00000338101.4_Missense_Mutation_p.R48C	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	48	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R48C(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCGCCCCCACGAATCAGGTCA	0.597000													11	47					0	0	0.008291	0	0
PER1	5187	broad.mit.edu	37	17	8051093	8051093	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:8051093G>A	ENST00000317276.4	-	11	1524	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	PER1_ENST00000581082.1_Silent_p.A409A|PER1_ENST00000354903.5_Silent_p.A413A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	429	PAC.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGTTGCGGGCACAGAAGC	0.612000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					18	20					0	0	0.007413	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974597	32974597	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:32974597T>A	ENST00000450833.2	-	4	816	c.545A>T	c.(544-546)aAt>aTt	p.N182I	HLA-DOA_ENST00000229829.5_3'UTR			P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	0	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCACAAGTCATTTCTCTCAGA	0.502000													12	38					0	0	0.002450	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561590	127561590	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:127561590G>A	ENST00000373580.3	+	4	489	c.489G>A	c.(487-489)gaG>gaA	p.E163E		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	163										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGAGCCGGGAGAATGAGGTGG	0.597000													33	2					0	0	0.009718	0	0
ACADS	35	broad.mit.edu	37	12	121175909	121175909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:121175909C>T	ENST00000411593.2	+	5	555	c.530C>T	c.(529-531)cCc>cTc	p.P177L	ACADS_ENST00000242592.4_Intron			P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	185			W -> R (in ACADSD; dbSNP:rs57443665).			mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GTGGGCTGTCCCTGTCCCTCC	0.622000													5	18					0	0	0.000602	0	0
MATN2	4147	broad.mit.edu	37	8	98943539	98943539	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:98943539C>T	ENST00000254898.5	+	3	732	c.501C>T	c.(499-501)atC>atT	p.I167I	MATN2_ENST00000521689.1_Silent_p.I167I|MATN2_ENST00000520016.1_Silent_p.I167I|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Silent_p.I167I	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	167	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding	p.I167I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TCATAATGATCGTGACAGATG	0.597000													22	29					0	0	0.004656	0	0
NMS	129521	broad.mit.edu	37	2	101097606	101097606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:101097606G>A	ENST00000376865.1	+	8	398	c.391G>A	c.(391-393)Gga>Aga	p.G131R		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	131					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCGACCTGGGGACGACCCTT	0.418000													102	60					0	0	0.014410	0	0
CLEC4E	26253	broad.mit.edu	37	12	8689763	8689763	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:8689763T>C	ENST00000299663.3	-	4	485	c.320A>G	c.(319-321)aAc>aGc	p.N107S	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	107	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GGCTGAGCAGTTCTTTAAACT	0.478000													37	22					0	0	0.011902	0	0
OR2G6	391211	broad.mit.edu	37	1	248685728	248685728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248685728C>T	ENST00000343414.4	+	1	813	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGTACCTTCAACCGGCCAA	0.443000													22	107					0	0	0.003954	0	0
CSMD3	114788	broad.mit.edu	37	8	114185976	114185976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:114185976C>T	ENST00000297405.5	-	4	928	c.684G>A	c.(682-684)tgG>tgA	p.W228*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W228*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W228*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W188*|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	228	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGAAAATCCCACGAAGCTG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	28					0	0	0.008871	0	0
GNA11	2767	broad.mit.edu	37	19	3118923	3118923	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3118923A>T	ENST00000078429.4	+	5	849	c.605_splice	c.e5-1	p.M203_splice	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	203					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCTTTCAGGATGGTGGATGT	0.617000			Mis		uveal melanoma								17	27					0	0	0.010504	0	0
INHBE	83729	broad.mit.edu	37	12	57850359	57850359	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:57850359T>A	ENST00000266646.2	+	2	997	c.781T>A	c.(781-783)Tgg>Agg	p.W261R	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	261					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGAACTGGGATGGCGGGACTG	0.637000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	84					0	0	0.012319	0	0
TNN	63923	broad.mit.edu	37	1	175092600	175092600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175092600G>A	ENST00000239462.4	+	12	2828	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	905	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCTGGGACCCGGTTC	0.517000													33	70					0	0	0.013726	0	0
TM9SF4	9777	broad.mit.edu	37	20	30733135	30733135	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:30733135C>T	ENST00000217315.5	+	8	1081	c.741C>T	c.(739-741)gcC>gcT	p.A247A	TM9SF4_ENST00000398022.2_Silent_p.A264A			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	264						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCAAATGGGCCTCTCGCTGGG	0.532000													26	29					0	0	0.004656	0	0
SEC14L1	6397	broad.mit.edu	37	17	75139696	75139696	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:75139696G>A	ENST00000413679.2	+	3	321	c.18G>A	c.(16-18)caG>caA	p.Q6Q	SEC14L1_ENST00000430767.4_Silent_p.Q6Q|SEC14L1_ENST00000585618.1_Silent_p.Q6Q|SEC14L1_ENST00000392476.2_Silent_p.Q6Q|SEC14L1_ENST00000443798.4_Silent_p.Q6Q|SEC14L1_ENST00000436233.4_Silent_p.Q6Q	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	6	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGAAATACCAGTCCCCAGTGA	0.353000													22	18					0	0	0.004656	0	0
FRY	10129	broad.mit.edu	37	13	32729724	32729724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:32729724C>T	ENST00000380250.3	+	15	2072	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCGTTCTTCCTTCAGGAAA	0.423000													24	23					0	0	0.003330	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876923	74876923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:74876923C>T	ENST00000289575.5	+	4	772	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A104V|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A10V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A10V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A10V	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	126					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATCCTTGTGGCCCTGGCGGGC	0.592000													33	83					0	0	0.004878	0	0
AGBL1	123624	broad.mit.edu	37	15	86808051	86808051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:86808051G>A	ENST00000441037.2	+	10	1606	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R235Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R504Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	504					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTTGGAACGAAAATGTGGA	0.443000													28	46					0	0	0.009535	0	0
COL4A3	1285	broad.mit.edu	37	2	228141104	228141104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228141104C>T	ENST00000396578.3	+	27	2093	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	644	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTTAAGGCCCTAGGGGAGAG	0.488000													12	52					0	0	0.010729	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045128	55045128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55045128C>T	ENST00000335056.3	+	3	286	c.248C>T	c.(247-249)cCt>cTt	p.P83L																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ACCATCAGCCCTGTGACCCCA	0.498000													10	34					0	0	0.008291	0	0
OPRD1	4985	broad.mit.edu	37	1	29189627	29189627	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:29189627C>T	ENST00000234961.2	+	3	1193	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	317					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	ACCCCGTGCTCTACGCTTTCC	0.687000													6	13					0	0	0.001168	0	0
MAP4K1	11184	broad.mit.edu	37	19	39104893	39104893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:39104893C>T	ENST00000591517.1	-	6	437	c.409G>A	c.(409-411)Gac>Aac	p.D137N	MAP4K1_ENST00000589130.1_Missense_Mutation_p.D133N|MAP4K1_ENST00000586296.1_Missense_Mutation_p.D137N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D137N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	137	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCTTGATGTCCCTGTGTATC	0.602000													23	58					0	0	0.003954	0	0
USH2A	7399	broad.mit.edu	37	1	216017817	216017817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:216017817G>A	ENST00000366943.2	-	46	9463	c.9077C>T	c.(9076-9078)cCa>cTa	p.P3026L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3026L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3026	Fibronectin type-III 17.				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)		GACAACCTCTGGAGGAAGCAT	0.393000										HNSCC(13;0.011)			8	38					0	0	0.004482	0	0
PRRC2A	7916	broad.mit.edu	37	6	31597474	31597474	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:31597474C>T	ENST00000376033.2	+	14	2340	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	PRRC2A_ENST00000376007.4_Silent_p.A702A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	702	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCCAAGGCCCTGTACCCAG	0.672000													11	13					0	0	0.010729	0	0
LOXL4	84171	broad.mit.edu	37	10	100019161	100019161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:100019161C>T	ENST00000260702.3	-	5	838	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	230	SRCR 2.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACTTAGGGTCCCTCATCTTC	0.567000													25	10					0	0	0.005443	0	0
TSIX	9383	broad.mit.edu	37	X	73042056	73042056	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:73042056G>A	ENST00000604411.1	+	0	30017				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GATGGACTAGGAAAATGAAGT	0.468000													15	10					0	0	0.004990	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941640	6941640	+	Silent	SNP	C	C	T	rs145936915		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:6941640C>T	ENST00000308027.6	+	3	821	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	171						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGAGGGGGTCCCTGCTGCTGG	0.677000													45	25					0	0	0.010771	0	0
ZNF816	125893	broad.mit.edu	37	19	53453605	53453605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:53453605G>A	ENST00000357666.4	-	5	1723	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	ZNF816_ENST00000444460.2_Missense_Mutation_p.H475Y|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTGTGAAGTGTATGA	0.413000													16	46					0	0	0.003163	0	0
OR5K4	403278	broad.mit.edu	37	3	98073499	98073499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:98073499G>A	ENST00000354924.2	+	1	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AGGAGATAAAGATACACCAGT	0.323000													43	99					0	0	0.010771	0	0
ACSM5	54988	broad.mit.edu	37	16	20451668	20451668	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20451668G>A	ENST00000331849.4	+	14	1806	c.1659G>A	c.(1657-1659)gtG>gtA	p.V553V	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	553					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTCACTAGGTGGCCTTTGTTT	0.433000													14	21					0	0	0.010504	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664498	169664498	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169664498G>A	ENST00000483289.2	-	0	2796				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TCCTCTGCAAGGGGTCCCTGC	0.507000													12	48					0	0	0.013537	0	0
ERG	2078	broad.mit.edu	37	21	39755817	39755817	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:39755817G>A	ENST00000442448.1	-	11	1168	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ERG_ENST00000398907.1_Silent_p.F293F|ERG_ENST00000288319.7_Silent_p.F316F|ERG_ENST00000453032.2_Silent_p.F224F|ERG_ENST00000398910.1_Silent_p.F300F|ERG_ENST00000417133.2_Silent_p.F323F|ERG_ENST00000398905.1_Silent_p.F292F|ERG_ENST00000398919.2_Silent_p.F323F|ERG_ENST00000398897.1_Silent_p.F200F|ERG_ENST00000398911.1_Silent_p.F299F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	323					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCTCCAGGAGGAACTGCCAAA	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								29	53					0	0	0.006320	0	0
SORL1	6653	broad.mit.edu	37	11	121500230	121500230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:121500230G>A	ENST00000260197.7	+	48	6732	c.6603G>A	c.(6601-6603)atG>atA	p.M2201I	SORL1_ENST00000532694.1_Missense_Mutation_p.M1047I|SORL1_ENST00000525532.1_Missense_Mutation_p.M1145I|SORL1_ENST00000527934.1_Missense_Mutation_p.M816I|SORL1_ENST00000534286.1_Missense_Mutation_p.M1111I	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2201					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)		ATGCCCCTATGATAACTGGAT	0.423000													39	18					0	0	0.013114	0	0
DUSP27	92235	broad.mit.edu	37	1	167095156	167095156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:167095156C>T	ENST00000361200.2	+	6	954	c.788C>T	c.(787-789)cCc>cTc	p.P263L	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.P263L|DUSP27_ENST00000443333.1_Missense_Mutation_p.P263L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	263					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.P263H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCATCTACCCCAATGAGGGC	0.582000													44	45					0	0	0.014410	0	0
KIF25	3834	broad.mit.edu	37	6	168443302	168443302	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:168443302G>A	ENST00000443060.2	+	9	1282	c.891G>A	c.(889-891)gcG>gcA	p.A297A	KIF25_ENST00000354419.2_Silent_p.A297A|KIF25_ENST00000351261.3_Intron			Q9UIL4	KIF25_HUMAN	kinesin family member 25	297					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.A297A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGCCTTGCGGCCCTGGCAG	0.657000													24	55					0	0	0.014323	0	0
COPS7A	50813	broad.mit.edu	37	12	6840169	6840169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:6840169C>T	ENST00000538410.1	+	7	781	c.640C>T	c.(640-642)Ccg>Tcg	p.P214S	COPS7A_ENST00000534947.1_Silent_p.L264L|COPS7A_ENST00000543155.1_Silent_p.L264L|COPS7A_ENST00000229251.3_Silent_p.L264L|COPS7A_ENST00000539735.1_Silent_p.L264L|COPS7A_ENST00000534877.1_Silent_p.L264L			Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	0					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCCAGGCTCCGAGGGAGCG	0.567000													12	29					0	0	0.013537	0	0
ZPBP2	124626	broad.mit.edu	37	17	38026953	38026953	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:38026953T>G	ENST00000377940.3	+	2	198	c.59T>G	c.(58-60)aTa>aGa	p.I20R	ZPBP2_ENST00000584588.1_Missense_Mutation_p.I42R|ZPBP2_ENST00000348931.4_Missense_Mutation_p.I42R	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	42					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACAGACAAAATATATGTAGAG	0.303000													25	23					0	0	0.005443	0	0
OTOF	9381	broad.mit.edu	37	2	26707371	26707371	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:26707371G>A	ENST00000272371.2	-	12	1302	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	OTOF_ENST00000403946.3_Silent_p.A392A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	392					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGTCTCATTGGCCTTGTGGG	0.627000													30	18					0	0	0.008361	0	0
PBRM1	55193	broad.mit.edu	37	3	52597488	52597488	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52597488C>T	ENST00000356770.4	-	23	3803	c.3801G>A	c.(3799-3801)aaG>aaA	p.K1267K	PBRM1_ENST00000409057.1_Silent_p.K1299K|PBRM1_ENST00000337303.4_Silent_p.K1299K|PBRM1_ENST00000410007.1_Silent_p.K1274K|PBRM1_ENST00000409767.1_Silent_p.K1314K|PBRM1_ENST00000409114.3_Silent_p.K1314K|PBRM1_ENST00000296302.7_Silent_p.K1299K|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Silent_p.K1274K			Q86U86	PB1_HUMAN	polybromo 1	1299	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTGATGGCTCCTTCTGAGGAA	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								32	39					0	0	0.012213	0	0
NUP210L	91181	broad.mit.edu	37	1	154067456	154067456	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:154067456C>T	ENST00000368559.3	-	15	2213	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	NUP210L_ENST00000271854.3_Silent_p.Q714Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	714						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTACTGGTTCTGTTTTCTCT	0.403000													44	27					0	0	0.014410	0	0
OR52N4	390072	broad.mit.edu	37	11	5776645	5776645	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5776645G>A	ENST00000317254.3	+	1	723	c.675G>A	c.(673-675)cgG>cgA	p.R225R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGATTCTCCGGGCAGTGGTCA	0.488000													25	21					0	0	0.003954	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514925	233514925	+	Missense_Mutation	SNP	G	G	A	rs76363344	by1000genomes	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233514925G>A	ENST00000366624.3	+	9	2434	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	MLK4_ENST00000366622.1_Missense_Mutation_p.G171R	NM_032435.2	NP_115811.2																					AGCTCTGTATGGGTGCACCGT	0.537000													13	84					0	0	0.002450	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996939	19996939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:19996939G>A	ENST00000391403.2	-	1	939	c.836C>T	c.(835-837)cCa>cTa	p.P279L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	279						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGCTCCTTTTGGAGGATTATC	0.348000													47	49					0	0	0.013114	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712548	1712548	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:1712548A>G	ENST00000397412.3	+	12	2570	c.2471A>G	c.(2470-2472)aAt>aGt	p.N824S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.N821S|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.N202S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.N824S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	824						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ACAGGAAGCAATGACTCAGAT	0.542000													39	116					0	0	0.006999	0	0
STAP2	55620	broad.mit.edu	37	19	4325533	4325533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4325533G>A	ENST00000600324.1	-	10	906	c.839C>T	c.(838-840)cCc>cTc	p.P280L	STAP2_ENST00000594605.1_Missense_Mutation_p.P280L|STAP2_ENST00000597593.1_5'UTR	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	280	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGTGCAGGGTGCAGGACC	0.622000													36	42					0	0	0.003271	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484033	60484033	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:60484033G>A	ENST00000450662.2	+	9	908	c.838_splice	c.e9+1	p.K279_splice	EFCAB3_ENST00000305286.3_Splice_Site_p.K227_splice	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	227							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGAGCTCAAGAGTAAGAGCC	0.393000													13	9					0	0	0.013537	0	0
OR4D1	26689	broad.mit.edu	37	17	56233249	56233249	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:56233249C>T	ENST00000268912.5	+	1	756	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCCACATCATCGTGGTGTCCA	0.512000													43	46					0	0	0.010771	0	0
GTF2I	2969	broad.mit.edu	37	7	74114635	74114635	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:74114635C>T	ENST00000324896.4	+	5	821	c.432C>T	c.(430-432)gaC>gaT	p.D144D	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Silent_p.D144D|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Silent_p.D144D|GTF2I_ENST00000346152.4_Silent_p.D144D|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000443166.1_Silent_p.D144D	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	144					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGCGAGACCAGTCGGCTG	0.483000													81	117					0	0	0.014410	0	0
EEF1D	1936	broad.mit.edu	37	8	144663478	144663478	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144663478G>A	ENST00000532741.1	-	4	1686	c.1458C>T	c.(1456-1458)tcC>tcT	p.S486S	EEF1D_ENST00000442189.2_Silent_p.S436S|EEF1D_ENST00000423316.2_Silent_p.S436S|EEF1D_ENST00000531621.1_Silent_p.S46S|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Silent_p.S70S|EEF1D_ENST00000419152.2_Silent_p.S70S|EEF1D_ENST00000317198.6_Silent_p.S70S|EEF1D_ENST00000395119.3_Silent_p.S70S|EEF1D_ENST00000524624.1_Silent_p.S46S|EEF1D_ENST00000528610.1_Silent_p.S46S|EEF1D_ENST00000526838.1_Silent_p.S70S			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	70					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGGTGCCGCTGGAGGCCCCGG	0.687000													20	16					0	0	0.012319	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358731	7358731	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:7358731C>T	ENST00000306071.2	+	9	1240	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	CHRNB1_ENST00000536404.2_Silent_p.F319F|CHRNB1_ENST00000576360.1_Silent_p.F270F	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	391					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				ATGAATATTTCATCCGGAAGC	0.537000													44	69					0	0	0.011902	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825924	111825924	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:111825924C>T	ENST00000369743.4	+	0	1289					NR_003928.1																						GGACTACATCCATGTCATGAC	0.542000													29	14					0	0	0.009535	0	0
CPQ	10404	broad.mit.edu	37	8	97847235	97847235	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:97847235C>T	ENST00000220763.5	+	3	678	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	156					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGACCTCTTTCGATGAACTGC	0.448000													21	29					0	0	0.012319	0	0
OR51B4	79339	broad.mit.edu	37	11	5322877	5322877	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5322877G>A	ENST00000380224.1	-	1	349	c.300C>T	c.(298-300)ttC>ttT	p.F100F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F100L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAATGAATGAAGGATTGGG	0.493000													13	27					0	0	0.013537	0	0
TOP3A	7156	broad.mit.edu	37	17	18183972	18183972	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:18183972C>T	ENST00000321105.5	-	17	2236	c.2021_splice	c.e17-1	p.G674_splice	TOP3A_ENST00000542570.1_Splice_Site_p.G579_splice|TOP3A_ENST00000540524.1_Splice_Site_p.G204_splice	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	674					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGAGGTAGAACCTGGGGACAA	0.577000													18	34					0	0	0.012319	0	0
TECPR2	9895	broad.mit.edu	37	14	102894623	102894623	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:102894623G>T	ENST00000359520.7	+	7	1214	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	TECPR2_ENST00000558678.1_Missense_Mutation_p.V330L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	330							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CGGTGATATTGTGTCTGTTTC	0.338000													15	19					7.93312e-07	1.04045e-06	0.002450	1	0
RYR1	6261	broad.mit.edu	37	19	38995400	38995400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:38995400G>A	ENST00000355481.4	+	51	8211	c.8080G>A	c.(8080-8082)Gag>Aag	p.E2694K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2694K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2694K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2694	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATACGACCCGGAGCTGTACCG	0.562000													16	40					0	0	0.006122	0	0
OR11H12	440153	broad.mit.edu	37	14	19378112	19378112	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:19378112C>T	ENST00000550708.1	+	1	591	c.519C>T	c.(517-519)atC>atT	p.I173I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTTCCTGATCCCCATTGTTC	0.483000													10	208					0	0	0.013726	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994330	140994330	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:140994330C>T	ENST00000285879.4	+	4	1426	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	380							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGCCCCTCCTTCTCCTCCA	0.478000										HNSCC(15;0.026)			109	94					0	0	0.014410	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156812213G>A	ENST00000368195.3	-	18	3610	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1072	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCAAAGATCGAAGATGGCTC	0.592000													43	123					0	0	0.014410	0	0
SPPL2B	56928	broad.mit.edu	37	19	2338837	2338837	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:2338837C>T	ENST00000452401.2	+	0	536				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		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)		TGGACATCTTCACGGTAGGTC	0.642000													7	7					0	0	0.006214	0	0
INSL3	3640	broad.mit.edu	37	19	17927817	17927817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:17927817G>A	ENST00000379695.5	-	3	404	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	INSL3_ENST00000317306.7_Missense_Mutation_p.A81V	NM_001265587.1	NP_001252516.1	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	0					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						ATTACTGTCGGCCACCAGCCC	0.617000													23	14					0	0	0.003954	0	0
TTLL9	164395	broad.mit.edu	37	20	30496420	30496420	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:30496420G>T	ENST00000375938.4	+	5	486	c.233G>T	c.(232-234)tGt>tTt	p.C78F	TTLL9_ENST00000375922.4_Missense_Mutation_p.C28F|TTLL9_ENST00000375921.2_Missense_Mutation_p.C28F|TTLL9_ENST00000375934.4_Missense_Mutation_p.C60F|TTLL9_ENST00000535842.1_Missense_Mutation_p.C78F|TTLL9_ENST00000310998.4_Missense_Mutation_p.C28F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	78	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCTACTGGTGTGACGTCAGC	0.607000													15	40					1.45105e-14	1.92375e-14	0.006122	1	0
IGHV5-51	28388	broad.mit.edu	37	14	107034921	107034921	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:107034921G>A	ENST00000390626.2	-	0	217																											GCACCCAGCCGATCCAGTAGC	0.572000													13	21					0	0	0.013537	0	0
SMPD3	55512	broad.mit.edu	37	16	68405629	68405629	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:68405629C>T	ENST00000219334.5	-	3	1059	c.456G>A	c.(454-456)aaG>aaA	p.K152K	SMPD3_ENST00000568373.1_Silent_p.K152K|SMPD3_ENST00000563226.1_Silent_p.K152K	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	152					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCCCGATCTCCTTGGCCCGCG	0.592000													16	21					0	0	0.004990	0	0
CNTN4	152330	broad.mit.edu	37	3	3084744	3084744	+	Silent	SNP	G	G	A	rs112921386	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:3084744G>A	ENST00000397461.1	+	21	2979	c.2595G>A	c.(2593-2595)acG>acA	p.T865T	CNTN4_ENST00000427331.1_Silent_p.T865T|CNTN4_ENST00000448906.2_Silent_p.T537T|CNTN4_ENST00000358480.3_Silent_p.T646T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Silent_p.T537T|CNTN4_ENST00000418658.1_Silent_p.T865T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	865	Fibronectin type-III 3.				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)		CAAAAATCACGAACTTAAAAG	0.393000													16	28					0	0	0.004007	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234846	44234846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:44234846C>T	ENST00000330884.4	-	4	529	c.409G>A	c.(409-411)Gat>Aat	p.D137N	SULT4A1_ENST00000249130.5_Missense_Mutation_p.D137N|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	137					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACCACCAGATCCTTGGGGTTG	0.562000													22	53					0	0	0.014323	0	0
PLCB2	5330	broad.mit.edu	37	15	40581117	40581117	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:40581117G>A	ENST00000260402.3	-	32	3606	c.3357C>T	c.(3355-3357)ttC>ttT	p.F1119F	PLCB2_ENST00000456256.2_Silent_p.F1104F|PLCB2_ENST00000557821.1_Silent_p.F1115F	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1119					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTCCTTCTGGAACTGTGGAG	0.632000													29	27					0	0	0.003755	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833481	125833481	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:125833481C>T	ENST00000393434.2	-	18	2350	c.2001G>A	c.(1999-2001)gtG>gtA	p.V667V	ALDH1L1_ENST00000452905.2_Silent_p.V566V|ALDH1L1_ENST00000472186.1_Silent_p.V667V|ALDH1L1_ENST00000273450.3_Silent_p.V677V|ALDH1L1_ENST00000393431.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	667	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACACCTTCTTCACGTTACTTA	0.622000													33	109					0	0	0.004878	0	0
FFAR2	2867	broad.mit.edu	37	19	35941572	35941572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35941572G>A	ENST00000599180.1	+	2	1036	c.956G>A	c.(955-957)gGa>gAa	p.G319E	FFAR2_ENST00000246549.2_Missense_Mutation_p.G319E|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	319						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGGGTCAAGGAGAAGGGATG	0.592000													16	39					0	0	0.004990	0	0
VWF	7450	broad.mit.edu	37	12	6153593	6153593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:6153593G>A	ENST00000261405.5	-	18	2560	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	769	Amino-terminal.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACCATGGGGGGCCGACAGGA	0.542000													9	28					0	0	0.008291	0	0
HTR1D	3352	broad.mit.edu	37	1	23519780	23519780	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:23519780G>A	ENST00000374619.1	-	1	1442	c.933C>T	c.(931-933)atC>atT	p.I311I	HTR1D_ENST00000314113.3_Silent_p.I311I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	311					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCAGCAGATGATAAAGGCCC	0.552000													46	33					0	0	0.011902	0	0
RASGRF1	5923	broad.mit.edu	37	15	79310211	79310211	+	Silent	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:79310211A>G	ENST00000419573.3	-	12	1918	c.1644T>C	c.(1642-1644)ttT>ttC	p.F548F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.F548F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	548	PH 2.				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						CCCCGATTTTAAAATCCAAGT	0.498000													46	48					0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9304264	9304264	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:9304264T>G	ENST00000261336.2	-	33	4245	c.4217A>C	c.(4216-4218)gAa>gCa	p.E1406A	PZP_ENST00000381997.2_Missense_Mutation_p.E1192A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTAGATCTTTCAAGCTGGAG	0.428000													14	8					0	0	0.002450	0	0
TTC12	54970	broad.mit.edu	37	11	113196301	113196301	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113196301C>T	ENST00000393020.1	+	6	783	c.378C>T	c.(376-378)atC>atT	p.I126I	TTC12_ENST00000314756.3_Silent_p.I126I|TTC12_ENST00000529221.1_Silent_p.I126I|TTC12_ENST00000483239.2_Silent_p.I126I			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	126							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAACAGCTATCCTGCGCTACA	0.478000													12	9					0	0	0.001855	0	0
REG3G	130120	broad.mit.edu	37	2	79254178	79254178	+	Missense_Mutation	SNP	C	C	T	rs147133557		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:79254178C>T	ENST00000272324.5	+	4	398	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	REG3G_ENST00000393897.2_Missense_Mutation_p.P72S|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	72	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGAAGCGGCCCTCTGGAAA	0.557000													63	30					0	0	0.014410	0	0
CHD5	26038	broad.mit.edu	37	1	6188565	6188565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:6188565G>A	ENST00000262450.3	-	24	3823	c.3724C>T	c.(3724-3726)Ccg>Tcg	p.P1242S	CHD5_ENST00000378021.1_Missense_Mutation_p.P99S	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTACCTGGCGGGGTGCTACCG	0.652000													18	8					0	0	0.007413	0	0
FAM46C	54855	broad.mit.edu	37	1	118166492	118166492	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:118166492C>T	ENST00000369448.3	+	2	1249	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	334										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ACCTCATCTCCCTCCTGGCCT	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			12	31					0	0	0.001855	0	0
CYTIP	9595	broad.mit.edu	37	2	158287156	158287156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:158287156G>A	ENST00000264192.3	-	5	512	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	CYTIP_ENST00000540637.1_Missense_Mutation_p.L25F	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	131	PDZ.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATATTTGCAAGGACATCACCT	0.408000													50	30					0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92085931	92085931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:92085931G>A	ENST00000298047.6	+	1	670	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R218Q|FAT3_ENST00000541502.1_Missense_Mutation_p.R218Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R68Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	218	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTAAGTGGTCGATTAAATTAT	0.393000										TCGA Ovarian(4;0.039)			100	128					0	0	0.014410	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:3266305G>A	ENST00000576468.1	+	0	418																											TCCACAAAGGGAAGATGGAAA	0.527000													26	21					0	0	0.006320	0	0
KCNH5	27133	broad.mit.edu	37	14	63174914	63174914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:63174914G>A	ENST00000322893.7	-	11	2547	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	760					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGTCTGAATGGGAGTAATCTG	0.532000													38	33					0	0	0.004878	0	0
PORCN	64840	broad.mit.edu	37	X	48372689	48372689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:48372689C>T	ENST00000367574.4	+	7	1040	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	PORCN_ENST00000361988.3_Missense_Mutation_p.L250F|PORCN_ENST00000326194.6_Missense_Mutation_p.L261F|PORCN_ENST00000537758.1_Missense_Mutation_p.L261F|PORCN_ENST00000355961.4_Missense_Mutation_p.L256F|PORCN_ENST00000359882.4_Missense_Mutation_p.L255F|PORCN_ENST00000355092.3_Missense_Mutation_p.L255F			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	261				A -> T (in Ref. 1; AAG39628/AAG39630).	Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGGGCTTTCTTTCCGAGGC	0.617000													41	27					0	0	0.006230	0	0
PCLO	27445	broad.mit.edu	37	7	82578820	82578820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82578820G>A	ENST00000423517.2	-	6	11421	c.11084C>T	c.(11083-11085)gCt>gTt	p.A3695V	PCLO_ENST00000333891.8_Missense_Mutation_p.A3695V|PCLO_ENST00000437081.1_Missense_Mutation_p.A415V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3626					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						CTGAAAAGGAGCCCTGGAACT	0.463000													68	112					0	0	0.014410	0	0
SUPT3H	8464	broad.mit.edu	37	6	44797595	44797595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:44797595C>T	ENST00000371458.1	-	5	636	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SUPT3H_ENST00000371461.2_Splice_Site|SUPT3H_ENST00000371460.1_Splice_Site|SUPT3H_ENST00000306867.5_Splice_Site|SUPT3H_ENST00000371459.1_Splice_Site			O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	279					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GGTAGGCATTCTGTCAAAGAA	0.423000													36	42					0	0	0.006999	0	0
OR11H4	390442	broad.mit.edu	37	14	20711780	20711780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:20711780C>T	ENST00000315409.2	+	1	883	c.830C>T	c.(829-831)cCa>cTa	p.P277L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TATGGGATCCCAACTTTATTG	0.403000													73	106					0	0	0.014410	0	0
BUD13	84811	broad.mit.edu	37	11	116633462	116633462	+	Silent	SNP	G	G	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:116633462G>C	ENST00000260210.4	-	4	866	c.843C>G	c.(841-843)tcC>tcG	p.S281S	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	281										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTCTGGGCAGGGAATAAGTGA	0.512000													137	218					0	0	0.014410	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676545	234676545	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:234676545G>A	ENST00000360418.3	+	3	1047	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	UGT1A7_ENST00000373426.3_Silent_p.T346T|UGT1A1_ENST00000305208.5_Silent_p.T349T|UGT1A5_ENST00000373414.3_Silent_p.T350T|UGT1A6_ENST00000373424.1_Silent_p.T81T|UGT1A6_ENST00000406651.1_Silent_p.T81T|UGT1A9_ENST00000354728.4_Silent_p.T346T|UGT1A10_ENST00000344644.5_Silent_p.T346T|UGT1A6_ENST00000305139.6_Silent_p.T348T|UGT1A10_ENST00000373445.1_Silent_p.T346T|UGT1A8_ENST00000373450.4_Silent_p.T346T|UGT1A3_ENST00000482026.1_Silent_p.T350T|UGT1A4_ENST00000373409.3_Silent_p.T350T			P22309	UD11_HUMAN		349					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGAACAACACGATACTTGTTA	0.448000													113	48					0	0	0.014410	0	0
MCTP1	79772	broad.mit.edu	37	5	94353137	94353137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:94353137G>A	ENST00000515393.1	-	2	771	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	MCTP1_ENST00000505208.1_Missense_Mutation_p.P37S|MCTP1_ENST00000429576.2_Missense_Mutation_p.P37S|MCTP1_ENST00000312216.8_Missense_Mutation_p.P37S	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	258	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TACATTCCGGGATCAGCCAAG	0.383000													8	9					0	0	0.003080	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594926	31594926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:31594926C>T	ENST00000376033.2	+	11	1475	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P414L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	414	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCTACCCCCACCTCACCGG	0.652000													7	15					0	0	0.003080	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452993	35452993	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:35452993G>A	ENST00000357182.4	-	16	3917	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1230					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTCTTCTTCGAAGTCGGTGA	0.353000													25	48					0	0	0.003330	0	0
UBL7	84993	broad.mit.edu	37	15	74738569	74738569	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:74738569C>T	ENST00000567435.1	-	11	1469		c.e11-1		UBL7_ENST00000395081.2_Splice_Site|UBL7_ENST00000361351.4_Splice_Site|UBL7_ENST00000565335.1_Splice_Site|UBL7_ENST00000564488.1_Splice_Site			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)								protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GCCACTGGCTCTGTGGAAAGA	0.597000													38	43					0	0	0.008740	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179592993C>T	ENST00000589042.1	-	67	19782	c.19558G>A	c.(19558-19560)Gaa>Aaa	p.E6520K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6203K|TTN_ENST00000342992.6_Missense_Mutation_p.E5276K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6203	Ig-like 46.						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)			GTAGATATTTCTTTTCCATCC	0.378000													6	18					0	0	0.001984	0	0
LRTM1	57408	broad.mit.edu	37	3	54958890	54958890	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:54958890G>A	ENST00000273286.5	-	2	522	c.360C>T	c.(358-360)tcC>tcT	p.S120S	LRTM1_ENST00000493075.1_Silent_p.S44S|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	120						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTGAGGGAGGGAATGGAAAA	0.483000													8	31					0	0	0.003080	0	0
MYH4	4622	broad.mit.edu	37	17	10367812	10367812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10367812C>T	ENST00000255381.2	-	7	735	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	209	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAGGCAGGTTCCTCTTTTTTC	0.423000													31	29					0	0	0.010818	0	0
SENP7	57337	broad.mit.edu	37	3	101090875	101090875	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:101090875A>T	ENST00000394095.2	-	7	826	c.773T>A	c.(772-774)tTa>tAa	p.L258*	SENP7_ENST00000348610.3_Nonsense_Mutation_p.L225*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.L192*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.L94*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.L193*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.L94*	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	258					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCAGATATTAAAAGAGAAAT	0.323000													14	39					0	0	0.003163	0	0
KCNB2	9312	broad.mit.edu	37	8	73850273	73850273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:73850273C>T	ENST00000523207.1	+	3	3271	c.2683C>T	c.(2683-2685)Cat>Tat	p.H895Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	895					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCAGAAATTCATTCCAACCC	0.398000													44	40					0	0	0.014410	0	0
PLCG2	5336	broad.mit.edu	37	16	81891956	81891956	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:81891956C>T	ENST00000359376.3	+	4	640	c.426C>T	c.(424-426)atC>atT	p.I142I	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	142					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCACCATTATCGAGAGGTAGT	0.463000													48	82					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153174180	153174180	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:153174180G>A	ENST00000285900.5	+	14	2613		c.e14-1		GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTTTTTAAAGAAATCCAGTA	0.473000													9	12					0	0	0.004482	0	0
PGK2	5232	broad.mit.edu	37	6	49754126	49754126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:49754126C>T	ENST00000304801.3	-	1	927	c.775G>A	c.(775-777)Gat>Aat	p.D259N		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	259					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCTCTTCATCAAACAGGGAA	0.398000													30	24					0	0	0.007291	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234847	44234847	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:44234847C>T	ENST00000330884.4	-	4	528	c.408G>A	c.(406-408)aaG>aaA	p.K136K	SULT4A1_ENST00000249130.5_Silent_p.K136K|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	136					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CCACCAGATCCTTGGGGTTGC	0.562000													23	52					0	0	0.002780	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226662	87226662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:87226662G>A	ENST00000297524.3	-	4	1496	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	SLC7A13_ENST00000419776.2_3'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	465						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GACACATCAGGGAGGCAAATA	0.303000													11	15					0	0	0.013537	0	0
DOPEY1	23033	broad.mit.edu	37	6	83877668	83877668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:83877668G>T	ENST00000349129.2	+	39	7440	c.7180G>T	c.(7180-7182)Gag>Tag	p.E2394*	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.E2405*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.E2298*|PGM3_ENST00000513973.1_3'UTR|PGM3_ENST00000512866.1_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2394					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCGCAGTATGGAGCAGCTCCT	0.512000													10	15					2.17888e-05	2.85208e-05	0.006214	1	0
ABCB9	23457	broad.mit.edu	37	12	123425473	123425473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123425473C>T	ENST00000542678.1	-	8	4288	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000346530.5_Missense_Mutation_p.D441N|ABCB9_ENST00000442833.2_Missense_Mutation_p.D484N|ABCB9_ENST00000442028.2_Missense_Mutation_p.D484N|ABCB9_ENST00000344275.7_Missense_Mutation_p.D484N|ABCB9_ENST00000280560.8_Missense_Mutation_p.D484N|ABCB9_ENST00000540285.1_Intron|ABCB9_ENST00000392439.3_Missense_Mutation_p.D484N			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	484					positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGCTGCCGGTCGATGAACTCG	0.642000													5	13					0	0	0.000602	0	0
TFDP3	51270	broad.mit.edu	37	X	132352067	132352067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:132352067C>T	ENST00000310125.4	-	1	309	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	74						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GTTTGGGCTTCCTACCACAGG	0.522000													19	46					0	0	0.010504	0	0
UBE3C	9690	broad.mit.edu	37	7	156961790	156961790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:156961790C>T	ENST00000348165.5	+	3	529	c.169C>T	c.(169-171)Cga>Tga	p.R57*	UBE3C_ENST00000389103.4_Intron	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	57	Cis-determinant of acceptor ubiquitin- binding.|IQ.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCATTTATTCGAGGCTATAG	0.363000													28	27					0	0	0.009535	0	0
GSDMC	56169	broad.mit.edu	37	8	130789651	130789651	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:130789651G>A	ENST00000276708.4	-	2	1064	c.183C>T	c.(181-183)tcC>tcT	p.S61S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	61						mitochondrion		p.S61S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGTCATTGAGGGAGAATTCAA	0.433000													16	25					0	0	0.004990	0	0
KIAA0100	9703	broad.mit.edu	37	17	26947001	26947001	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:26947001G>A	ENST00000528896.2	-	30	5471	c.5397C>T	c.(5395-5397)ttC>ttT	p.F1799F	KIAA0100_ENST00000389003.3_Silent_p.F1656F|KIAA0100_ENST00000544884.1_Silent_p.F1656F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1799						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCTCAAGCTGGAACCTGACCC	0.453000													38	39					0	0	0.005524	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272439	11272439	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:11272439C>T	ENST00000409790.1	+	24	3284	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	CLEC16A_ENST00000381822.2_Silent_p.L105L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	1018								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCACAGCCTCCGCAGCCTCA	0.697000													20	30					0	0	0.010504	0	0
AR	367	broad.mit.edu	37	X	66765996	66765996	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:66765996C>T	ENST00000374690.3	+	1	1532	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	AR_ENST00000396044.3_Silent_p.S336S|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.S336S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	334	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGGGAGCTCCGGGACACTTG	0.572000									Androgen Insensitivity Syndrome				21	26					0	0	0.010504	0	0
ANXA13	312	broad.mit.edu	37	8	124724918	124724918	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124724918C>T	ENST00000262219.6	-	3	281	c.214_splice	c.e3+1	p.G72_splice	ANXA13_ENST00000419625.1_Splice_Site_p.G31_splice	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	31					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCTCATACCCATTCCTTTG	0.413000													15	14					0	0	0.002450	0	0
SKAP1	8631	broad.mit.edu	37	17	46259780	46259780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:46259780C>T	ENST00000336915.6	-	8	676	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SKAP1_ENST00000584924.1_Missense_Mutation_p.D203N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	203	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTTATTTGATCCACCCAGTCT	0.333000													77	114					0	0	0.014410	0	0
OR10J1	26476	broad.mit.edu	37	1	159410103	159410103	+	Silent	SNP	C	C	T	rs62641747	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:159410103C>T	ENST00000423932.3	+	1	592	c.555C>T	c.(553-555)ccC>ccT	p.P185P	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	185					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GAAAGGTGCCCCACTTCTTCT	0.488000													45	102					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11039097	11039097	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:11039097C>T	ENST00000470054.1	-	0	1106									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCTTTTCTCCTTGTAGCCTT	0.403000													22	308					0	0	0.002780	0	0
ADCY7	113	broad.mit.edu	37	16	50325717	50325717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:50325717C>T	ENST00000394697.2	+	4	786	c.446C>T	c.(445-447)gCc>gTc	p.A149V	ADCY7_ENST00000566433.2_Missense_Mutation_p.A149V|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.A149V|ADCY7_ENST00000538642.1_Missense_Mutation_p.A149V|ADCY7_ENST00000537579.1_Missense_Mutation_p.A149V			P51828	ADCY7_HUMAN	adenylate cyclase 7	149					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGCGCTGTCGCCGTTGGGGCC	0.632000													20	23					0	0	0.012319	0	0
THRB	7068	broad.mit.edu	37	3	24231811	24231811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:24231811C>T	ENST00000396671.2	-	5	385	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	THRB_ENST00000356447.4_Missense_Mutation_p.A13T|THRB_ENST00000416420.1_Missense_Mutation_p.A13T	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	13	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGTCCCAGGCTGTAAGGCCA	0.478000													20	36					0	0	0.010504	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515348	233515348	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233515348C>A	ENST00000366624.3	+	9	2857	c.2596C>A	c.(2596-2598)Ccg>Acg	p.P866T	MLK4_ENST00000366622.1_Missense_Mutation_p.P312T	NM_032435.2	NP_115811.2																					AAGAAACTTGCCGTCTTCCTT	0.493000													21	80					1.66031e-10	2.19468e-10	0.003954	1	0
PLEKHM1	9842	broad.mit.edu	37	17	43535717	43535717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:43535717G>A	ENST00000430334.3	-	6	1530	c.1397C>T	c.(1396-1398)tCt>tTt	p.S466F	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S377F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	466					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCCCCTGTAAGAAGCTATTGG	0.532000													18	30					0	0	0.006122	0	0
CTSK	1513	broad.mit.edu	37	1	150769331	150769331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:150769331G>A	ENST00000271651.3	-	8	1044	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	312					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTATTTCGAGCCATGAGG	0.433000													63	110					0	0	0.014410	0	0
APPBP2	10513	broad.mit.edu	37	17	58531839	58531839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:58531839C>T	ENST00000083182.3	-	11	1449	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	388					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATTGCAATCTCCTCTAAAATA	0.318000													50	47					0	0	0.014410	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862764	10862764	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:10862764G>A	ENST00000559480.1	+	0	60																		p.Q20H(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CCCAGTCCCAGGTACAGCTGG	0.557000													62	265					0	0	0.014410	0	0
NISCH	11188	broad.mit.edu	37	3	52510543	52510543	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52510543C>T	ENST00000345716.4	+	8	980	c.846C>T	c.(844-846)gtC>gtT	p.V282V	NISCH_ENST00000479054.1_Silent_p.V282V|NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000420808.2_Silent_p.V282V|NISCH_ENST00000488380.1_Silent_p.V282V	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	282	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGACTGCCGTCATCCCCACTT	0.552000													16	35					0	0	0.004007	0	0
DNAH3	55567	broad.mit.edu	37	16	21031009	21031009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21031009C>T	ENST00000261383.3	-	41	5958	c.5959G>A	c.(5959-5961)Gat>Aat	p.D1987N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1987					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGTTATCATCCATGCCCATG	0.423000													41	47					0	0	0.010771	0	0
SLC9A9	285195	broad.mit.edu	37	3	143214261	143214261	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:143214261C>T	ENST00000316549.6	-	10	1327	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	373					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGATGACGTTCTCCGCCAAAA	0.348000													22	69					0	0	0.007291	0	0
LDLR	3949	broad.mit.edu	37	19	11224036	11224036	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:11224036C>T	ENST00000558518.1	+	9	1456	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	LDLR_ENST00000535915.1_Silent_p.I382I|LDLR_ENST00000545707.1_Silent_p.I296I|LDLR_ENST00000558013.1_Silent_p.I423I|LDLR_ENST00000455727.2_Silent_p.I255I|LDLR_ENST00000557933.1_Silent_p.I423I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	423			I -> T (in FH; Swedish patient).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCAGCCTCATCCCCAACCTGA	0.612000													77	141					0	0	0.014410	0	0
KLK3	354	broad.mit.edu	37	19	51363301	51363301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:51363301C>T	ENST00000326003.2	+	5	745	c.704C>T	c.(703-705)gCc>gTc	p.A235V	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Missense_Mutation_p.A192V	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	235	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.A235V(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GAACCATGTGCCCTGCCCGAA	0.562000													21	52					0	0	0.010504	0	0
PDPR	55066	broad.mit.edu	37	16	70190538	70190538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:70190538C>T	ENST00000288050.4	+	19	3353	c.2396C>T	c.(2395-2397)aCc>aTc	p.T799I	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.T699I|PDPR_ENST00000568530.1_Missense_Mutation_p.T799I|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.T157I|PDPR_ENST00000542659.1_Missense_Mutation_p.T144I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	799					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTTGGCAAGACCACCAGCAGT	0.557000													58	181					0	0	0.014410	0	0
ITGA5	3678	broad.mit.edu	37	12	54798966	54798966	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:54798966G>A	ENST00000293379.4	-	12	1470	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	403					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCCATCCTGGTCCAGGTCCC	0.597000													46	31					0	0	0.014410	0	0
MROH2B	133558	broad.mit.edu	37	5	41067278	41067278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:41067278C>T	ENST00000399564.4	-	3	583	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCAAGATGTCAGTATTCTGA	0.343000													3	3					0	0	0.004672	0	0
ATRX	546	broad.mit.edu	37	X	76907702	76907702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:76907702C>T	ENST00000373344.5	-	15	4673	c.4459G>A	c.(4459-4461)Gat>Aat	p.D1487N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1449N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1487					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCAGTTTATCATCTTTAAGA	0.428000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						69	222					0	0	0.014410	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41430263	41430263	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:41430263C>T	ENST00000599198.1	+	0	140					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCCCATGGCACCCTCCCACCA	0.577000													48	32					0	0	0.014410	0	0
PLXNB1	5364	broad.mit.edu	37	3	48455372	48455372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:48455372G>A	ENST00000358536.4	-	22	4587	c.4318C>T	c.(4318-4320)Ccc>Tcc	p.P1440S	PLXNB1_ENST00000456774.1_Missense_Mutation_p.P1257S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P1257S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Missense_Mutation_p.P51S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1440S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1440					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGCTCCACGGGGGGCTCGCAG	0.657000													20	18					0	0	0.008871	0	0
BEST3	144453	broad.mit.edu	37	12	70072605	70072605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:70072605G>A	ENST00000330891.5	-	5	776	c.550C>T	c.(550-552)Cca>Tca	p.P184S	BEST3_ENST00000488961.1_Missense_Mutation_p.P22S|BEST3_ENST00000331471.4_Missense_Mutation_p.P184S|BEST3_ENST00000476098.1_Missense_Mutation_p.P22S|BEST3_ENST00000553096.1_Missense_Mutation_p.P78S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	184						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAGATGAATGGAACCCAATAT	0.353000													32	20					0	0	0.010818	0	0
HMGCS2	3158	broad.mit.edu	37	1	120311394	120311394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:120311394G>A	ENST00000369406.3	-	1	123	c.74C>T	c.(73-75)cCt>cTt	p.P25L	HMGCS2_ENST00000544913.2_Missense_Mutation_p.P25L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	25					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CAGGCGAGCAGGTGTGAGGGA	0.517000													51	39					0	0	0.014410	0	0
LCT	3938	broad.mit.edu	37	2	136594359	136594359	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:136594359G>A	ENST00000264162.2	-	1	391	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	127	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGATGACCATGGGCTGAAGCC	0.602000													31	12					0	0	0.008361	0	0
C11orf53	341032	broad.mit.edu	37	11	111156656	111156656	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:111156656C>T	ENST00000280325.4	+	4	735	c.588C>T	c.(586-588)ccC>ccT	p.P196P		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	196										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCTACCGCCCAAGGTGGGGC	0.592000													35	47					0	0	0.013726	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605542	209605542	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:209605542C>T	ENST00000384891.1	+	0	65					NR_029622.1																						GTCTCATACCCAACCAGATTT	0.567000													21	74					0	0	0.014323	0	0
LENG8	114823	broad.mit.edu	37	19	54968019	54968019	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:54968019C>T	ENST00000326764.5	+	11	2129	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	513							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTGCAGATCGTGGGCACCT	0.682000													11	7					0	0	0.008291	0	0
AP1G1	164	broad.mit.edu	37	16	71807177	71807177	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71807177C>A	ENST00000299980.4	-	4	856	c.415G>T	c.(415-417)Gca>Tca	p.A139S	AP1G1_ENST00000569748.1_Missense_Mutation_p.A139S|AP1G1_ENST00000393512.3_Missense_Mutation_p.A139S|AP1G1_ENST00000433195.2_Missense_Mutation_p.A162S|AP1G1_ENST00000423132.2_Missense_Mutation_p.A139S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	139					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCTCTCCTGCAAGATCTCTG	0.423000													51	70					2.29192e-23	3.04757e-23	0.014410	1	0
MLXIPL	51085	broad.mit.edu	37	7	73008630	73008630	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:73008630T>C	ENST00000313375.3	-	16	2461	c.2414A>G	c.(2413-2415)tAc>tGc	p.Y805C	MLXIPL_ENST00000414749.2_Missense_Mutation_p.Y803C|MLXIPL_ENST00000429400.2_Missense_Mutation_p.Y786C|MLXIPL_ENST00000395189.1_Missense_Mutation_p.Y712C|MLXIPL_ENST00000354613.1_Missense_Mutation_p.Y784C|MLXIPL_ENST00000434326.1_Missense_Mutation_p.Y711C	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	805					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGAGAGCAGTACTGGTCCAG	0.627000													33	51					0	0	0.004289	0	0
LRCH4	4034	broad.mit.edu	37	7	100176056	100176056	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:100176056G>A	ENST00000310300.6	-	6	866	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	272					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGGGCCAGGTCCCCCAGG	0.642000													45	53					0	0	0.014410	0	0
OR9A2	135924	broad.mit.edu	37	7	142723335	142723335	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142723335C>T	ENST00000350513.2	-	1	947	c.885G>A	c.(883-885)gaG>gaA	p.E295E		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTCGGAGGGCCTCTTTGACTT	0.433000													47	83					0	0	0.014410	0	0
SEPP1	6414	broad.mit.edu	37	5	42807012	42807012	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:42807012G>A	ENST00000514985.1	-	3	658	c.402C>T	c.(400-402)ttC>ttT	p.F134F	SEPP1_ENST00000511224.1_Silent_p.F134F|SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000506577.1_Silent_p.F134F|SEPP1_ENST00000509276.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	134					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CATATATGAGGAAGTCATCTT	0.318000													29	43					0	0	0.012213	0	0
PLCL1	5334	broad.mit.edu	37	2	198950722	198950722	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:198950722C>T	ENST00000428675.1	+	2	2879	c.2481C>T	c.(2479-2481)ccC>ccT	p.P827P	PLCL1_ENST00000437704.2_Silent_p.P729P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	827					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCATGTTCCCCTGCGTTCTT	0.453000													11	24					0	0	0.008291	0	0
HHATL	57467	broad.mit.edu	37	3	42734363	42734363	+	Silent	SNP	G	G	A	rs17852071		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:42734363G>A	ENST00000441594.1	-	12	1656	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	HHATL_ENST00000310417.5_Silent_p.F465F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	465					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TGGTCTGGGGGAACCCTGTGT	0.602000													46	23					0	0	0.014410	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													18	2					0	0	0.007413	0	0
ALG1L2	644974	broad.mit.edu	37	3	129817039	129817039	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:129817039G>A	ENST00000507643.1	+	0	647							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										GGTGGGGACAGGCAATGAGGT	0.547000													16	14					0	0	0.003163	0	0
FILIP1	27145	broad.mit.edu	37	6	76024622	76024622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:76024622C>T	ENST00000393004.2	-	5	1147	c.926G>A	c.(925-927)aGg>aAg	p.R309K	FILIP1_ENST00000237172.7_Missense_Mutation_p.R309K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R210K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	309										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGAGAAAACCTCGAAGCCTT	0.418000													30	63					0	0	0.006320	0	0
KLF12	11278	broad.mit.edu	37	13	74420001	74420001	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:74420001G>A	ENST00000377669.2	-	3	659	c.633C>T	c.(631-633)gtC>gtT	p.V211V	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.V211V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	211					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAGCGGCACGACAATAGTGT	0.473000													46	47					0	0	0.014410	0	0
HEPH	9843	broad.mit.edu	37	X	65476039	65476039	+	Silent	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:65476039T>C	ENST00000519389.1	+	17	3104	c.2925T>C	c.(2923-2925)ttT>ttC	p.F975F	HEPH_ENST00000374727.3_Silent_p.F924F|HEPH_ENST00000336279.5_Silent_p.F654F|HEPH_ENST00000343002.2_Silent_p.F921F|HEPH_ENST00000441993.2_Silent_p.F924F|HEPH_ENST00000419594.1_Silent_p.F732F			Q9BQS7	HEPH_HUMAN	hephaestin	921	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						ATCGGGAATTTGCATTGTTGT	0.493000													5	22					0	0	0.000602	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068392	89068392	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:89068392C>T	ENST00000251038.5	+	11	1704	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S	ZC3H14_ENST00000393514.5_Silent_p.S468S|ZC3H14_ENST00000555755.1_Silent_p.S493S|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000555900.1_Silent_p.S195S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	493						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTGCAGATTCCCTTCGGGTAC	0.423000													79	94					0	0	0.014410	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171001	92171001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:92171001C>T	ENST00000256343.3	-	7	667	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	171					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTACTGATTTCACTTTCTGGA	0.413000													27	44					0	0	0.005443	0	0
WDR96	80217	broad.mit.edu	37	10	105971772	105971772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:105971772G>A	ENST00000357060.3	-	5	843	c.728C>T	c.(727-729)aCt>aTt	p.T243I	WDR96_ENST00000369720.1_Missense_Mutation_p.T173I|WDR96_ENST00000278064.2_Missense_Mutation_p.T173I|WDR96_ENST00000369719.1_Missense_Mutation_p.T173I|WDR96_ENST00000428666.1_Missense_Mutation_p.T243I	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	243										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TACCCGGAAAGTCTCTGCCTC	0.517000													27	3					0	0	0.005443	0	0
JPH4	84502	broad.mit.edu	37	14	24040602	24040602	+	Silent	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:24040602T>A	ENST00000397118.3	-	6	2240	c.1338A>T	c.(1336-1338)gtA>gtT	p.V446V	JPH4_ENST00000356300.4_Silent_p.V446V|JPH4_ENST00000544177.1_Silent_p.V111V	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	446					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CGTTCTCATATACCCCAGGGC	0.657000													27	31					0	0	0.009535	0	0
DNAH1	25981	broad.mit.edu	37	3	52400750	52400750	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:52400750G>A	ENST00000420323.2	+	36	5873	c.5610_splice	c.e36-1	p.C1871_splice		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1871	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCTCCCAGTGTTACAGAGTC	0.607000													10	36					0	0	0.008291	0	0
TRPM4	54795	broad.mit.edu	37	19	49686035	49686035	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49686035C>T	ENST00000252826.5	+	11	1590	c.1464C>T	c.(1462-1464)gcC>gcT	p.A488A	TRPM4_ENST00000427978.2_Silent_p.A488A|TRPM4_ENST00000355712.5_Silent_p.A134A	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	488					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.K487_L498delKAPALKGGAAEL(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCACCAAAGCCCCAGCCCTAA	0.677000													18	25					0	0	0.006122	0	0
KCNK13	56659	broad.mit.edu	37	14	90650484	90650484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:90650484G>A	ENST00000282146.4	+	2	805	c.364G>A	c.(364-366)Gga>Aga	p.G122R		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	122						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCGACAGTAGGAGGAAAAAT	0.478000													52	57					0	0	0.014410	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228865	57228865	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:57228865G>A	ENST00000396721.2	-	2	172	c.42C>T	c.(40-42)ttC>ttT	p.F14F	SDR16C5_ENST00000303749.3_Silent_p.F14F|SDR16C5_ENST00000522671.1_Silent_p.F14F			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	14					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ATTTTCCTAAGAAAATGAACA	0.408000													16	25					0	0	0.004007	0	0
RTN4	57142	broad.mit.edu	37	2	55277311	55277311	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:55277311C>T	ENST00000337526.6	-	1	369	c.126G>A	c.(124-126)gaG>gaA	p.E42E	RTN4_ENST00000357732.4_Silent_p.E42E|RTN4_ENST00000354474.6_Silent_p.E42E|RTN4_ENST00000402434.2_Silent_p.E14E|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Silent_p.E42E|RTN4_ENST00000394611.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	42	Poly-Glu.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						cctcgtcctcctcttcctcct	0.706000													5	26					0	0	0.000602	0	0
FBXW8	26259	broad.mit.edu	37	12	117465253	117465253	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:117465253G>A	ENST00000455858.2	+	10	1471	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	FBXW8_ENST00000309909.5_Silent_p.V532V	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	532							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CGGCCAACGTGCCTTACCAGA	0.597000													35	26					0	0	0.008740	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773633	35773633	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:35773633C>T	ENST00000360215.1	+	1	563	c.186C>T	c.(184-186)ttC>ttT	p.F62F	LHFPL5_ENST00000373853.1_Silent_p.F62F	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	62						integral to membrane		p.F62F(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CAGGCTACTTCGGCCTTTTCT	0.597000													98	73					0	0	0.014410	0	0
ITGA10	8515	broad.mit.edu	37	1	145533487	145533487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:145533487G>A	ENST00000369304.3	+	12	1545	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	ITGA10_ENST00000538811.1_Missense_Mutation_p.R326Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R314Q	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	457					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTAGACATCGAGGAAAAGTC	0.557000													62	61					0	0	0.014410	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141456	143141456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:143141456G>A	ENST00000332690.1	+	1	911	c.911G>A	c.(910-912)aGa>aAa	p.R304K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	304					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGCAGGCTGAGAGCTGTGCTG	0.493000													62	75					0	0	0.014410	0	0
CLASP2	23122	broad.mit.edu	37	3	33585027	33585027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:33585027G>A	ENST00000399362.4	-	32	3676	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	CLASP2_ENST00000359576.5_Missense_Mutation_p.S1100F|CLASP2_ENST00000480013.1_Missense_Mutation_p.S888F|CLASP2_ENST00000461133.3_Missense_Mutation_p.S868F|CLASP2_ENST00000468888.2_Missense_Mutation_p.S1109F|CLASP2_ENST00000539981.1_Missense_Mutation_p.S878F|CLASP2_ENST00000307312.7_Missense_Mutation_p.S590F	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1110										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACTCCCCATGGAACTCTGATG	0.393000													27	25					0	0	0.004656	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222375	118222375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:118222375C>T	ENST00000402510.2	-	11	2817	c.2818G>A	c.(2818-2820)Gat>Aat	p.D940N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	940										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCACGGAATCGCTCTGTTTT	0.512000													26	17					0	0	0.005443	0	0
EPPK1	83481	broad.mit.edu	37	8	144942944	144942944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144942944C>T	ENST00000525985.1	-	2	4549	c.4478G>A	c.(4477-4479)gGg>gAg	p.G1493E				P58107	EPIPL_HUMAN	epiplakin 1	1493						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCCCTCCCAGACCGACA	0.667000													5	7					0	0	0.000602	0	0
IL36G	56300	broad.mit.edu	37	2	113742458	113742458	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:113742458G>A	ENST00000259205.4	+	5	411	c.342G>A	c.(340-342)gtG>gtA	p.V114V	IL36G_ENST00000376489.2_Silent_p.V79V	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	114					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCGAGCCCGTGAAACCCTTCC	0.512000													22	122					0	0	0.003330	0	0
OR8D2	283160	broad.mit.edu	37	11	124190007	124190007	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124190007G>A	ENST00000357438.2	-	1	177	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAAGGAACAGGAGGAAGAGTG	0.453000													6	34					0	0	0.003080	0	0
TENM1	10178	broad.mit.edu	37	X	123554567	123554567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:123554567G>A	ENST00000422452.2	-	25	4639	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	TENM1_ENST00000371130.3_Missense_Mutation_p.R1519C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGATGGTACGAATTCGAACA	0.483000													26	66					0	0	0.007291	0	0
LGI2	55203	broad.mit.edu	37	4	25005151	25005151	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:25005151C>T	ENST00000382114.4	-	8	1745	c.1560G>A	c.(1558-1560)agG>agA	p.R520R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	520						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGAAATCTCTCCTGTCGGTGG	0.398000													26	5					0	0	0.005443	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801379	137801379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:137801379C>T	ENST00000242375.3	+	9	994	c.952C>T	c.(952-954)Cct>Tct	p.P318S	AKR1D1_ENST00000432161.1_Missense_Mutation_p.S290F|AKR1D1_ENST00000411726.2_Missense_Mutation_p.P277S|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	318					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCGCGATCATCCTGAATACCC	0.448000													73	71					0	0	0.014410	0	0
CCDC106	29903	broad.mit.edu	37	19	56160619	56160619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:56160619C>T	ENST00000586790.1	+	2	984	c.80C>T	c.(79-81)cCc>cTc	p.P27L	CCDC106_ENST00000588740.1_Missense_Mutation_p.P27L|CCDC106_ENST00000591578.1_Missense_Mutation_p.P27L|CCDC106_ENST00000308964.3_Missense_Mutation_p.P27L|CCDC106_ENST00000591241.1_Intron			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	27						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GATGAGGCACCCCACCTAGAC	0.597000													56	58					0	0	0.014410	0	0
GRM3	2913	broad.mit.edu	37	7	86394922	86394922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:86394922C>T	ENST00000361669.2	+	2	1560	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GRM3_ENST00000439827.1_Missense_Mutation_p.S154F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.S152F|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	154					synaptic transmission	integral to plasma membrane		p.S154F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCAGTGTTTCCATACAGGTA	0.398000													5	4					0	0	0.000602	0	0
TLR8	51311	broad.mit.edu	37	X	12938651	12938651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:12938651C>T	ENST00000218032.6	+	2	1579	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S	TLR8_ENST00000311912.5_Missense_Mutation_p.P516S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	498					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCATTGGGCCAAACCAATT	0.373000													25	17					0	0	0.003330	0	0
RAC1	5879	broad.mit.edu	37	7	6426893	6426893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:6426893C>T	ENST00000348035.4	+	2	299	c.86C>T	c.(85-87)cCt>cTt	p.P29L	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29L	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AATGCATTTCCTGGAGAATAT	0.353000													44	77					0	0	0.014410	0	0
SLC4A8	9498	broad.mit.edu	37	12	51899696	51899696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:51899696G>A	ENST00000453097.2	+	24	3468	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E		NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1084					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATGAATTCTGGAAATGCAAAG	0.338000													3	6					0	0	0.004672	0	0
DERL1	79139	broad.mit.edu	37	8	124031497	124031497	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124031497G>A	ENST00000259512.4	-	7	855	c.555C>T	c.(553-555)ttC>ttT	p.F185F	DERL1_ENST00000405944.3_Intron|DERL1_ENST00000523036.1_Silent_p.F85F|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000519018.1_Silent_p.F85F|DERL1_ENST00000419562.2_Silent_p.F85F	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	185					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAACATTAGGAAAAAATAAA	0.368000													18	20					0	0	0.007413	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188683	140188683	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140188683G>A	ENST00000530339.1	+	1	1911	c.1911G>A	c.(1909-1911)ctG>ctA	p.L637L	PCDHA4_ENST00000356878.4_Silent_p.L637L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.L637L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGTGCCCTGGACGAAACGG	0.682000													22	44					0	0	0.002780	0	0
RSPO1	284654	broad.mit.edu	37	1	38079495	38079495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:38079495C>T	ENST00000356545.2	-	7	1293	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	RSPO1_ENST00000401068.1_Missense_Mutation_p.R169Q|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401069.1_Missense_Mutation_p.R169Q|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.R142Q	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGCCCCTCCGGAAACCACA	0.632000													12	49					0	0	0.004007	0	0
PTCHD1	139411	broad.mit.edu	37	X	23397803	23397803	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:23397803C>T	ENST00000379361.4	+	2	1307	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	149					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGACTTGCATCGTGGATGACA	0.453000													20	59					0	0	0.008871	0	0
PTPRK	5796	broad.mit.edu	37	6	128302348	128302348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:128302348C>T	ENST00000368227.3	-	26	4041	c.3675G>A	c.(3673-3675)atG>atA	p.M1225I	PTPRK_ENST00000368207.3_Missense_Mutation_p.M1240I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M1214I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M1226I|PTPRK_ENST00000368215.3_Missense_Mutation_p.M1207I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M1230I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M1208I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1207	Tyrosine-protein phosphatase 2.				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)		GCAGCATGTCCATGAAACGGT	0.453000													13	23					0	0	0.013537	0	0
MMAA	166785	broad.mit.edu	37	4	146576317	146576317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:146576317C>T	ENST00000281317.5	+	7	2198	c.988C>T	c.(988-990)Cga>Tga	p.R330*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.R49*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	330						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTTCTGCCCGAAGTGGAGA	0.428000													26	4					0	0	0.003954	0	0
SERINC3	10955	broad.mit.edu	37	20	43132535	43132535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:43132535G>A	ENST00000342374.4	-	8	1133	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SERINC3_ENST00000541235.1_Missense_Mutation_p.P271S|SERINC3_ENST00000255175.1_Missense_Mutation_p.P326S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	326						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CTCTTTGATGGTGGAGTAGGG	0.433000													41	38					0	0	0.005524	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494522	123494522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123494522G>A	ENST00000280562.5	-	5	723	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S173F|PITPNM2_ENST00000546049.1_Missense_Mutation_p.S173F|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S173F|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCAGTTCTCGGACAGGGGCCC	0.552000													53	101					0	0	0.014410	0	0
ZNF578	147660	broad.mit.edu	37	19	53014519	53014519	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:53014519C>T	ENST00000421239.2	+	6	1129	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GTGGAAAGTCCTTCAGTTACA	0.408000													26	82					0	0	0.003954	0	0
PLCB1	23236	broad.mit.edu	37	20	8689366	8689366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:8689366C>T	ENST00000378641.3	+	12	1692	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	PLCB1_ENST00000378637.2_Missense_Mutation_p.P406L|PLCB1_ENST00000338037.6_Missense_Mutation_p.P406L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	406	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCACCTTTTCCAATTCTCCTT	0.363000													12	19					0	0	0.003163	0	0
PPIL1	51645	broad.mit.edu	37	6	36823648	36823648	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:36823648T>C	ENST00000373699.5	-	4	693	c.442A>G	c.(442-444)Aac>Gac	p.N148D	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	148	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						TCCTGGGAGTTTGTTTCTACC	0.557000													66	53					0	0	0.014410	0	0
NT5E	4907	broad.mit.edu	37	6	86197123	86197123	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:86197123G>A	ENST00000257770.3	+	5	1069	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	NT5E_ENST00000369651.3_Silent_p.G340G	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	340					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AGGAATTAGGGAAAACAATTG	0.393000													57	40					0	0	0.014410	0	0
C14orf93	60686	broad.mit.edu	37	14	23468224	23468224	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:23468224G>A	ENST00000299088.6	-	2	438	c.9C>T	c.(7-9)ttC>ttT	p.F3F	C14orf93_ENST00000341470.4_Silent_p.F3F|C14orf93_ENST00000397379.3_Silent_p.F3F|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397382.4_Silent_p.F3F|C14orf93_ENST00000406429.2_Silent_p.F3F	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	3						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TGGTGGCACTGAAGGACATGG	0.567000													48	77					0	0	0.014410	0	0
RBM6	10180	broad.mit.edu	37	3	50103776	50103776	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:50103776C>T	ENST00000443081.1	+	17	3307	c.2388C>T	c.(2386-2388)ccC>ccT	p.P796P	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Silent_p.P928P|RBM6_ENST00000442092.1_Silent_p.P406P|RBM6_ENST00000539992.1_Silent_p.P270P|RBM6_ENST00000422955.1_Silent_p.P406P			P78332	RBM6_HUMAN	RNA binding motif protein 6	928				T -> S (in Ref. 1; AAC05826).	RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCCCACAGCCCCGCACAGCAC	0.517000													16	48					0	0	0.004007	0	0
TMEM67	91147	broad.mit.edu	37	8	94770772	94770772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:94770772G>A	ENST00000453321.3	+	3	432	c.374G>A	c.(373-375)gGa>gAa	p.G125E	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	125					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACTGCCGAAGGAAAATGTCAC	0.308000													28	62					0	0	0.010818	0	0
KIF7	374654	broad.mit.edu	37	15	90189174	90189174	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:90189174C>T	ENST00000394412.3	-	8	1948	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	624	Poly-Glu.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			cctcttcctcctcTGAAGCAG	0.627000													33	42					0	0	0.012213	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661380	21661380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:21661380C>T	ENST00000229314.5	+	3	290	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	GOLT1B_ENST00000540141.1_Nonsense_Mutation_p.Q61*|GOLT1B_ENST00000542038.1_5'UTR|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	61	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						ATTCTTCTTCCAAAAACATAA	0.338000													31	23					0	0	0.008361	0	0
XAF1	54739	broad.mit.edu	37	17	6674014	6674014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:6674014C>T	ENST00000361842.3	+	6	799	c.560C>T	c.(559-561)cCa>cTa	p.P187L	XAF1_ENST00000441631.1_Missense_Mutation_p.P187L|XAF1_ENST00000346752.4_Missense_Mutation_p.P168L	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	187					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						GTTGGAAATCCAGAAATTCTT	0.343000													24	45					0	0	0.004656	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													204	121					0	0	0.014410	0	0
C9	735	broad.mit.edu	37	5	39311416	39311416	+	Missense_Mutation	SNP	C	C	T	rs147710831		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:39311416C>T	ENST00000263408.4	-	7	1029	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	312	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGCACAACATCGCGATTTCTC	0.368000													26	37					0	0	0.003330	0	0
L1CAM	3897	broad.mit.edu	37	X	153137758	153137758	+	Silent	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153137758A>G	ENST00000370060.1	-	5	438	c.249T>C	c.(247-249)ggT>ggC	p.G83G	L1CAM_ENST00000361981.3_Silent_p.G78G|L1CAM_ENST00000370055.1_Silent_p.G78G|L1CAM_ENST00000370057.3_Silent_p.G83G|L1CAM_ENST00000543994.1_Silent_p.G85G|L1CAM_ENST00000538883.1_Silent_p.G85G|L1CAM_ENST00000361699.4_Silent_p.G83G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	83	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACGGTCACACCCAGCTCTT	0.602000													22	28					0	0	0.012319	0	0
AMPD3	272	broad.mit.edu	37	11	10500130	10500130	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:10500130G>A	ENST00000396554.3	+	3	647	c.306G>A	c.(304-306)caG>caA	p.Q102Q	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	93					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCCGCCACAGCAAGATTGGA	0.567000													69	122					0	0	0.014410	0	0
CACNA1A	773	broad.mit.edu	37	19	13346508	13346508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:13346508G>A	ENST00000360228.5	-	32	4986	c.4987C>T	c.(4987-4989)Cga>Tga	p.R1663*	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.R1664*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1664					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R1664*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGGGCAGCTCGGAAGAGGCGG	0.557000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	28					0	0	0.013537	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968404	64968404	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:64968404G>A	ENST00000399262.2	-	10	3243	c.3025C>T	c.(3025-3027)Cag>Tag	p.Q1009*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q790*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q827*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q790*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1009					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGTCTCCTGGGGTGGCCTC	0.398000													68	13					0	0	0.014410	0	0
OR51F2	119694	broad.mit.edu	37	11	4843416	4843416	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:4843416C>T	ENST00000322110.5	+	1	866	c.801C>T	c.(799-801)ctC>ctT	p.L267L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTACCTCCCTCTCATCA	0.493000													14	22					0	0	0.001855	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279639	47279639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:47279639C>T	ENST00000271153.4	+	6	712	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F	CYP4B1_ENST00000371919.4_Missense_Mutation_p.L212F|CYP4B1_ENST00000371923.4_Missense_Mutation_p.L227F|CYP4B1_ENST00000452782.2_Missense_Mutation_p.L64F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	226					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCAGCAGCGCCTTGTGTCCTT	0.582000													48	123					0	0	0.014410	0	0
DKK4	27121	broad.mit.edu	37	8	42231804	42231804	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:42231804C>T	ENST00000220812.2	-	4	675	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	163	DKK-type Cys-2.				multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			TACAAATTTTCGTCCAAAAAT	0.478000													42	57					0	0	0.010771	0	0
CACNA1S	779	broad.mit.edu	37	1	201013550	201013550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:201013550G>A	ENST00000362061.3	-	39	4929	c.4703C>T	c.(4702-4704)cCc>cTc	p.P1568L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1549L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1568					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACAGATCTCGGGGGCTGCCTC	0.602000													50	45					0	0	0.014410	0	0
RNLS	55328	broad.mit.edu	37	10	90074236	90074236	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:90074236C>T	ENST00000371947.3	-	6	2202	c.863G>A	c.(862-864)tGg>tAg	p.W288*	RNLS_ENST00000331772.4_Nonsense_Mutation_p.W288*|RNLS_ENST00000437752.1_Nonsense_Mutation_p.W205*	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	288						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TGAATGTCTCCATTTTTGGCA	0.423000													24	8					0	0	0.004656	0	0
MUC15	143662	broad.mit.edu	37	11	26582706	26582706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:26582706G>A	ENST00000436318.2	-	4	1125	c.992C>T	c.(991-993)cCa>cTa	p.P331L	MUC15_ENST00000281268.8_Missense_Mutation_p.P281L|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P331L|MUC15_ENST00000455601.2_Missense_Mutation_p.P304L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P281L			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	304						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATTCAAAGTTGGATTGTAGTA	0.378000													7	5					0	0	0.004482	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368303	74368303	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:74368303G>A	ENST00000290438.3	-	8	628	c.588C>T	c.(586-588)gtC>gtT	p.V196V		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	196										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						ACCGCTGGAGGACCGCTTCTC	0.552000													57	260					0	0	0.014410	0	0
KCNA1	3736	broad.mit.edu	37	12	5021981	5021981	+	Silent	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:5021981C>A	ENST00000382545.3	+	2	2544	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	479					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAATTGCACCACTGCTAACC	0.408000													5	144					0.00198382	0.0025917	0.001984	1	0
ZNF774	342132	broad.mit.edu	37	15	90903974	90903974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:90903974C>T	ENST00000354377.3	+	4	1097	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCCAGAGCTCGGATTTGATT	0.512000													77	94					0	0	0.014410	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959952	117959952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:117959952C>T	ENST00000310164.2	+	4	1252	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGTGGCATTTCAGGGCTCCCC	0.517000													22	40					0	0	0.010504	0	0
SYT4	6860	broad.mit.edu	37	18	40853601	40853601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:40853601C>T	ENST00000255224.3	-	2	1161	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SYT4_ENST00000590752.1_Missense_Mutation_p.E247K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	265	Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCAGATAATTCAATTCCCGAG	0.318000													18	26					0	0	0.006122	0	0
GPR116	221395	broad.mit.edu	37	6	46839726	46839726	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:46839726G>T	ENST00000283296.7	-	11	1553	c.1265C>A	c.(1264-1266)tCt>tAt	p.S422Y	GPR116_ENST00000265417.7_Missense_Mutation_p.S422Y|GPR116_ENST00000362015.4_Missense_Mutation_p.S422Y|GPR116_ENST00000456426.2_Missense_Mutation_p.S280Y	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	422	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGCAGCTAGAATCTATGTC	0.453000													18	6					1.96292e-10	2.59214e-10	0.010504	1	0
FAT3	120114	broad.mit.edu	37	11	92087823	92087823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:92087823G>A	ENST00000298047.6	+	1	2562	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	FAT3_ENST00000409404.2_Missense_Mutation_p.E849K|FAT3_ENST00000541502.1_Missense_Mutation_p.E849K|FAT3_ENST00000525166.1_Missense_Mutation_p.E699K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	849	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATTGGTACTGAAATCATTCA	0.403000										TCGA Ovarian(4;0.039)			87	160					0	0	0.014410	0	0
HECTD4	283450	broad.mit.edu	37	12	112645751	112645751	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:112645751G>A	ENST00000550722.1	-	52	8015	c.7620C>T	c.(7618-7620)acC>acT	p.T2540T	HECTD4_ENST00000430131.2_Silent_p.T2264T|HECTD4_ENST00000377560.5_Silent_p.T2514T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTCTTCGGATGGTAGGAAAAA	0.512000													18	11					0	0	0.006122	0	0
MYOCD	93649	broad.mit.edu	37	17	12656041	12656041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:12656041C>T	ENST00000425538.1	+	10	1636	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S479F|MYOCD_ENST00000395988.1_Missense_Mutation_p.S383F	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	479	Ser-rich.				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)		AATGATGCCTCCCCCTCCTTC	0.627000													30	37					0	0	0.009535	0	0
OTOF	9381	broad.mit.edu	37	2	26707372	26707372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:26707372G>A	ENST00000272371.2	-	12	1301	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	OTOF_ENST00000403946.3_Missense_Mutation_p.A392V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	392					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCTCATTGGCCTTGTGGGG	0.627000													29	18					0	0	0.007291	0	0
ACSL6	23305	broad.mit.edu	37	5	131323771	131323771	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:131323771C>T	ENST00000379264.2	-	7	909	c.801G>A	c.(799-801)ggG>ggA	p.G267G	ACSL6_ENST00000357096.1_Silent_p.G207G|ACSL6_ENST00000544770.1_Silent_p.G151G|ACSL6_ENST00000379249.3_Silent_p.G242G|ACSL6_ENST00000296869.4_Silent_p.G267G|ACSL6_ENST00000431707.1_Silent_p.G222G|ACSL6_ENST00000379272.2_Silent_p.G257G|ACSL6_ENST00000379255.1_Silent_p.G207G|ACSL6_ENST00000379240.1_Silent_p.G242G|ACSL6_ENST00000379246.1_Silent_p.G253G|ACSL6_ENST00000379244.1_Silent_p.G242G|ACSL6_ENST00000543479.1_Silent_p.G242G	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	242					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAATGACCACCCCGCACTTCT	0.557000													44	68					0	0	0.009718	0	0
SACS	26278	broad.mit.edu	37	13	23914933	23914933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:23914933G>A	ENST00000382298.3	-	10	3670	c.3082C>T	c.(3082-3084)Cca>Tca	p.P1028S	SACS_ENST00000382292.3_Missense_Mutation_p.P1028S|SACS_ENST00000402364.1_Missense_Mutation_p.P278S	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1028					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCACATTTGGATTCTCATTT	0.343000													60	65					0	0	0.014410	0	0
DPYSL5	56896	broad.mit.edu	37	2	27164833	27164833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:27164833G>A	ENST00000288699.6	+	10	1263	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	DPYSL5_ENST00000401478.1_Missense_Mutation_p.D369N	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	369					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAAGATGGATGAGAACCG	0.532000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	106	53					0	0	0.014410	0	0
SFTPA2	729238	broad.mit.edu	37	10	81317056	81317056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:81317056C>T	ENST00000372325.2	-	6	740	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R219Q	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCTTTTCCCCGACCTGCAGG	0.552000									Pulmonary Fibrosis, Idiopathic				108	30					0	0	0.014410	0	0
CACNA1E	777	broad.mit.edu	37	1	181745324	181745324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:181745324G>A	ENST00000526775.1	+	37	5335	c.5170G>A	c.(5170-5172)Gag>Aag	p.E1724K	CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1694K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1675K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1743K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1724K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1350K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1743K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1743					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACTTGGACGAGTTTGTCCG	0.607000													76	136					0	0	0.014410	0	0
OR51B6	390058	broad.mit.edu	37	11	5373196	5373196	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5373196C>T	ENST00000380219.1	+	1	459	c.459C>T	c.(457-459)tcC>tcT	p.S153S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTCTGTCCATTATGCCAA	0.478000													19	36					0	0	0.008871	0	0
CASR	846	broad.mit.edu	37	3	121994790	121994790	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121994790C>T	ENST00000498619.1	+	5	1947	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	CASR_ENST00000296154.5_Silent_p.I503I|CASR_ENST00000490131.1_Silent_p.I503I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	503					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)	ATGGCTCCATCGTGTTTAAGG	0.507000													24	77					0	0	0.009535	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24470960	24470960	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:24470960C>T	ENST00000382137.3	-	1	234	c.166_splice	c.e1+1	p.G56_splice	C1QTNF9B_ENST00000382145.1_Splice_Site_p.G56_splice|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382140.2_Splice_Site_p.G56_splice|C1QTNF9B_ENST00000382057.3_Splice_Site_p.G56_splice	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	56	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGTGAGTACCTGCATCGCCT	0.542000													16	72					0	0	0.008361	0	0
FAM209B	388799	broad.mit.edu	37	20	55108414	55108414	+	Missense_Mutation	SNP	C	C	T	rs140276541		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:55108414C>T	ENST00000371325.1	+	1	113	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	6						integral to membrane											ACGCTGAAATCGTCCCTGGTC	0.572000													73	98					0	0	0.014410	0	0
CACNA1D	776	broad.mit.edu	37	3	53814128	53814128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:53814128C>T	ENST00000288139.3	+	39	4841	c.4723C>T	c.(4723-4725)Cga>Tga	p.R1575*	CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.R1555*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.R447*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.R1540*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1555					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCTTTGGTTCGAACGGCTCT	0.468000													22	52					0	0	0.003954	0	0
PKHD1	5314	broad.mit.edu	37	6	51923258	51923258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:51923258G>A	ENST00000371117.3	-	16	1650	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H459Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	459					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTATCCCATGATGCTCTGCT	0.547000													49	48					0	0	0.014410	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028656	38028656	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:38028656C>T	ENST00000377940.3	+	4	613	c.474C>T	c.(472-474)tgC>tgT	p.C158C	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Silent_p.C180C	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	180					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTTGTCATGCCATGTCATAG	0.338000													27	36					0	0	0.004656	0	0
ROS1	6098	broad.mit.edu	37	6	117686903	117686903	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:117686903C>T	ENST00000368508.3	-	19	3012	c.2812_splice	c.e19-1	p.G938_splice	ROS1_ENST00000368507.3_Splice_Site_p.G933_splice|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	938					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGGAAAAGTTCCCTACAGGAT	0.318000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								7	8					0	0	0.003080	0	0
ZFP28	140612	broad.mit.edu	37	19	57066540	57066540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:57066540C>T	ENST00000301318.3	+	8	2457	c.2386C>T	c.(2386-2388)Caa>Taa	p.Q796*	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	796					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AACCTTCATCCAAATTGGACA	0.378000													35	32					0	0	0.012213	0	0
CD3E	916	broad.mit.edu	37	11	118183553	118183553	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118183553G>A	ENST00000361763.4	+	6	615	c.324G>A	c.(322-324)gcG>gcA	p.A108A	CD3E_ENST00000528600.1_Silent_p.A102A	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	108	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity	p.A108A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGAAGATGCGAACTTTTATC	0.468000													25	19					0	0	0.007291	0	0
MTUS1	57509	broad.mit.edu	37	8	17612769	17612769	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:17612769G>T	ENST00000381869.3	-	2	1021	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	MTUS1_ENST00000262102.6_Missense_Mutation_p.S183Y|MTUS1_ENST00000519263.1_Missense_Mutation_p.S183Y|MTUS1_ENST00000381862.3_Missense_Mutation_p.S183Y	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	183						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGTATGGAAGGACTGACTCTT	0.443000													43	50					2.37825e-27	3.16864e-27	0.010771	1	0
BRAF	673	broad.mit.edu	37	7	140494206	140494206	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:140494206G>T	ENST00000288602.6	-	8	1102	c.1042C>A	c.(1042-1044)Cca>Aca	p.P348T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	348					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		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)	TCATCTGCTGGTCGGAAGGGC	0.428000		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				45	70					1.81118e-26	2.41072e-26	0.014410	1	0
NFRKB	4798	broad.mit.edu	37	11	129739560	129739560	+	Silent	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:129739560C>A	ENST00000446488.3	-	23	3463	c.3360G>T	c.(3358-3360)ggG>ggT	p.G1120G	NFRKB_ENST00000524746.1_Silent_p.G1120G|NFRKB_ENST00000524794.1_Silent_p.G1145G|NFRKB_ENST00000304521.5_Silent_p.G1120G	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1120					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CAGTTCCAGACCCACTGGCCA	0.597000													29	63					1.17739e-12	1.55941e-12	0.005443	1	0
TTN	7273	broad.mit.edu	37	2	179594547	179594547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179594547C>T	ENST00000589042.1	-	63	18657	c.18433G>A	c.(18433-18435)Gaa>Aaa	p.E6145K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5828K|TTN_ENST00000342992.6_Missense_Mutation_p.E4901K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5828	Ig-like 42.						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)			GCTGTTATTTCATTCCCGTCT	0.428000													22	13					0	0	0.002780	0	0
MAGI2	9863	broad.mit.edu	37	7	77973208	77973208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:77973208C>T	ENST00000354212.4	-	9	1548	c.1295G>A	c.(1294-1296)aGc>aAc	p.S432N	MAGI2_ENST00000536571.1_Missense_Mutation_p.S264N|MAGI2_ENST00000419488.1_Missense_Mutation_p.S432N|MAGI2_ENST00000522391.1_Missense_Mutation_p.S432N|MAGI2_ENST00000535697.1_Missense_Mutation_p.S269N	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	432	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCCATGTTGCTCTTTTTTAG	0.463000													25	35					0	0	0.003330	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556101	95556101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:95556101G>A	ENST00000297591.5	-	2	208	c.133C>T	c.(133-135)Cca>Tca	p.P45S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.P45S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P45S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	45					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTACTCCTGGGGGTATGACT	0.403000													144	224					0	0	0.014410	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607770	84607770	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:84607770G>A	ENST00000344803.2	+	4	2432	c.2385G>A	c.(2383-2385)aaG>aaA	p.K795K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTTCAGACAAGGATCTGAGGT	0.458000													42	10					0	0	0.011902	0	0
NUBP1	4682	broad.mit.edu	37	16	10855242	10855242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:10855242C>T	ENST00000283027.5	+	8	647	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.R199W|TVP23A_ENST00000572980.1_5'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	210					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCAGGATGTCCGGAAAGAAAT	0.542000													15	36					0	0	0.004007	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722725	145722725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:145722725C>T	ENST00000292539.4	+	2	1065	c.148C>T	c.(148-150)Cct>Tct	p.P50S	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000529009.1_3'UTR|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.P50S			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	50				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAAGAAGGGTCCTGGGGAGCG	0.652000													6	21					0	0	0.001984	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:143771320G>A	ENST00000408898.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000													53	60					0	0	0.014410	0	0
BTK	695	broad.mit.edu	37	X	100611929	100611929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:100611929C>T	ENST00000308731.7	-	14	1355	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	398					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCTTTGGATCAATTTCCCAT	0.428000									Agammaglobulinemia, X-linked				93	260					0	0	0.014410	0	0
LRP10	26020	broad.mit.edu	37	14	23346690	23346690	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:23346690C>G	ENST00000359591.4	+	7	2787	c.2096C>G	c.(2095-2097)cCg>cGg	p.P699R	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	699					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCTGAGCCGGGGGTGTGG	0.662000													8	29					0	0	0.003080	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													6	39					0	0	0.001168	0	0
MYH3	4621	broad.mit.edu	37	17	10543484	10543484	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10543484G>A	ENST00000583535.1	-	22	2598	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	MYH3_ENST00000226209.7_Silent_p.I837I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	837					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGAGGGGCTTGATCTTGAAGA	0.458000													55	54					0	0	0.014410	0	0
CEP192	55125	broad.mit.edu	37	18	13056677	13056677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:13056677C>T	ENST00000506447.1	+	19	4168	c.4088C>T	c.(4087-4089)tCa>tTa	p.S1363L	CEP192_ENST00000430049.2_Missense_Mutation_p.S888L|CEP192_ENST00000325971.8_Missense_Mutation_p.S767L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	958										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCATGGGATTCAGGAGTGACA	0.373000													70	82					0	0	0.014410	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548522	75548522	+	Silent	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75548522T>A	ENST00000604729.1	+	2	600	c.303T>A	c.(301-303)ccT>ccA	p.P101P	ZSWIM8_ENST00000604524.1_Silent_p.P101P|ZSWIM8_ENST00000603114.1_Silent_p.P101P|ZSWIM8_ENST00000605216.1_Silent_p.P101P|ZSWIM8_ENST00000398706.2_Silent_p.P101P					zinc finger, SWIM-type containing 8																		CACCAGTGCCTGAGCAGCTAC	0.517000													21	5					0	0	0.008871	0	0
KRT2	3849	broad.mit.edu	37	12	53045745	53045745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53045745C>T	ENST00000309680.3	-	1	203	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	61	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AACAAGACTCCGACTGCCAAA	0.617000													31	22					0	0	0.010818	0	0
LRRC32	2615	broad.mit.edu	37	11	76371224	76371224	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:76371224C>T	ENST00000407242.2	-	3	1655	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	LRRC32_ENST00000260061.5_Silent_p.L471L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L471L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	471						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AAGAAAGGTCCAGCTCAGTCA	0.647000													10	7					0	0	0.008291	0	0
MYO7B	4648	broad.mit.edu	37	2	128341871	128341871	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:128341871C>T	ENST00000389524.4	+	13	1571	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	MYO7B_ENST00000428314.1_Silent_p.I506I|MYO7B_ENST00000409816.2_Silent_p.I506I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	506	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGAGCATCATCTCCCTCC	0.607000													16	69					0	0	0.006122	0	0
ACSS3	79611	broad.mit.edu	37	12	81503406	81503406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:81503406G>A	ENST00000548058.1	+	2	1289	c.379G>A	c.(379-381)Gat>Aat	p.D127N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.D126N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	127						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGTAAAGGGGATAAGATTGC	0.328000													7	27					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82583281	82583281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:82583281G>A	ENST00000423517.2	-	5	7325	c.6988C>T	c.(6988-6990)Cga>Tga	p.R2330*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.R2330*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2261	Pro-rich.				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						CTTTTTGTTCGTTCGGCCTCC	0.418000													76	118					0	0	0.014410	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094905	139094905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:139094905C>T	ENST00000332797.6	+	1	249	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	32										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ACGTCACTTCCGTAAACAAAC	0.637000													47	81					0	0	0.014410	0	0
VWA8	23078	broad.mit.edu	37	13	42265478	42265478	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:42265478G>A	ENST00000379310.3	-	32	3912	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CTCTCCACCAGAAGCCATTTG	0.418000													41	47					0	0	0.011902	0	0
UNC79	57578	broad.mit.edu	37	14	94155060	94155060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94155060G>A	ENST00000553484.1	+	46	7296	c.7142G>A	c.(7141-7143)gGa>gAa	p.G2381E	UNC79_ENST00000256339.4_Missense_Mutation_p.G2182E|UNC79_ENST00000393151.2_Missense_Mutation_p.G2359E|UNC79_ENST00000555664.1_Missense_Mutation_p.G2320E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2359						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTTTGGGGGACATCTCAAA	0.493000													32	45					0	0	0.010818	0	0
OR52E4	390081	broad.mit.edu	37	11	5906298	5906298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5906298C>T	ENST00000316987.2	+	1	798	c.776C>T	c.(775-777)tCt>tTt	p.S259F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S259Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATTTTTTTCTTTTATGACA	0.428000													7	23					0	0	0.006214	0	0
TRAV6	6956	broad.mit.edu	37	14	22237214	22237214	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:22237214G>A	ENST00000390428.3	+	0	298																											AAGAAAAAAGGAAAGAAAGAC	0.443000													43	33					0	0	0.007835	0	0
ALG8	79053	broad.mit.edu	37	11	77835109	77835109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:77835109G>A	ENST00000376156.3	-	3	329	c.326C>T	c.(325-327)tCc>tTc	p.S109F	ALG8_ENST00000299626.5_Missense_Mutation_p.S109F|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	109					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			AAAGATGACGGAAAATCTCTG	0.358000													27	29					0	0	0.004656	0	0
EFCAB6	64800	broad.mit.edu	37	22	44074029	44074029	+	Missense_Mutation	SNP	C	C	T	rs146730740		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:44074029C>T	ENST00000358439.4	-	9	910	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	EFCAB6_ENST00000396231.2_Silent_p.P270P|EFCAB6_ENST00000262726.7_Silent_p.P422P			Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.P422P(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCTTGTTATCGGTCCATCGG	0.328000													20	34					0	0	0.002780	0	0
C4BPA	722	broad.mit.edu	37	1	207305077	207305077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:207305077G>A	ENST00000367070.3	+	8	1270	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	359	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCATACCAAGGATGTGAGGGT	0.373000													7	44					0	0	0.001984	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145089	56145089	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:56145089C>T	ENST00000394555.2	-	4	663	c.228G>A	c.(226-228)caG>caA	p.Q76Q	EFEMP1_ENST00000355426.3_Silent_p.Q76Q|EFEMP1_ENST00000424836.2_Silent_p.Q18Q|EFEMP1_ENST00000394554.1_Silent_p.Q76Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	76					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGACAATAATCTGGGCTGTTT	0.493000													25	104					0	0	0.003954	0	0
TMC2	117532	broad.mit.edu	37	20	2618212	2618212	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:2618212C>T	ENST00000358864.1	+	19	2493	c.2478C>T	c.(2476-2478)gcC>gcT	p.A826A		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	826						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAAAAATGCCACCCAGCTCC	0.453000													11	24					0	0	0.013537	0	0
MYO1A	4640	broad.mit.edu	37	12	57430741	57430741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:57430741C>T	ENST00000442789.2	-	21	2477	c.2190G>A	c.(2188-2190)tgG>tgA	p.W730*	MYO1A_ENST00000544473.1_Nonsense_Mutation_p.W568*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.W730*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	730	IQ 2.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTCCCCGAAACCAAGAGGAGA	0.517000													32	69					0	0	0.003271	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931073	157931073	+	Nonsense_Mutation	SNP	G	G	A	rs142009346	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:157931073G>A	ENST00000389413.3	-	7	1148	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	PTPRN2_ENST00000409483.1_Nonsense_Mutation_p.R311*|PTPRN2_ENST00000389418.4_Nonsense_Mutation_p.R349*|PTPRN2_ENST00000404321.2_Nonsense_Mutation_p.R372*|PTPRN2_ENST00000389416.4_Nonsense_Mutation_p.R332*	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	349						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGCTGCCTCGAGCTACTCCA	0.672000													48	40					0	0	0.014410	0	0
SUN2	25777	broad.mit.edu	37	22	39141792	39141792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:39141792C>T	ENST00000405510.1	-	9	1068	c.710G>A	c.(709-711)gGg>gAg	p.G237E	SUN2_ENST00000411587.2_Missense_Mutation_p.G226E|SUN2_ENST00000406622.1_Missense_Mutation_p.G237E|SUN2_ENST00000216064.4_Missense_Mutation_p.G237E|SUN2_ENST00000405018.1_Missense_Mutation_p.G258E|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	237					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TGTCTGCAGCCCATAGGGGTA	0.612000													21	31					0	0	0.003954	0	0
BRINP2	57795	broad.mit.edu	37	1	177250226	177250226	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:177250226C>T	ENST00000361539.4	+	8	2226	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		638						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGAAGACTTTCTTTGAGACAG	0.498000													28	55					0	0	0.006320	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370407	38370407	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:38370407C>T	ENST00000322350.5	+	6	901	c.555C>T	c.(553-555)ttC>ttT	p.F185F	EGFLAM_ENST00000354891.3_Silent_p.F185F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	185	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCCAGATTTCGACAAGAAGT	0.448000													32	48					0	0	0.004289	0	0
NCAN	1463	broad.mit.edu	37	19	19339214	19339214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:19339214C>T	ENST00000252575.5	+	8	2828	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	NCAN_ENST00000538881.1_Missense_Mutation_p.P380S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	929					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACCGGCTGTTCCTCCTGGGAC	0.637000													36	51					0	0	0.003271	0	0
DCAF5	8816	broad.mit.edu	37	14	69522035	69522035	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:69522035G>A	ENST00000341516.5	-	9	1515	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Silent_p.Y455Y|DCAF5_ENST00000556847.1_Silent_p.Y374Y|DCAF5_ENST00000554215.1_Silent_p.Y374Y	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	456						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CTGAGTCAGTGTAGCCTGAGC	0.617000													21	32					0	0	0.014323	0	0
ANK1	286	broad.mit.edu	37	8	41561628	41561628	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:41561628G>A	ENST00000396942.1	-	20	2309	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	ANK1_ENST00000289734.7_Silent_p.A742A|ANK1_ENST00000379758.2_Silent_p.A742A|ANK1_ENST00000352337.4_Silent_p.A742A|ANK1_ENST00000265709.8_Silent_p.A775A|ANK1_ENST00000347528.4_Silent_p.A742A|ANK1_ENST00000396945.1_Silent_p.A742A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	742	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCCTGCTGGGCTGCCTGGT	0.532000													60	65					0	0	0.014410	0	0
VRTN	55237	broad.mit.edu	37	14	74825031	74825031	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:74825031C>T	ENST00000256362.4	+	2	1786	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	515					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGGGCTGCCCGCAGGCAGG	0.667000													62	71					0	0	0.014410	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530692	84530692	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:84530692G>A	ENST00000527857.1	+	0	714					NR_026851.1																						TTCTCCCTTGGATTCCAAGTT	0.542000													49	73					0	0	0.014410	0	0
CHRM3	1131	broad.mit.edu	37	1	240071705	240071705	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:240071705G>A	ENST00000255380.4	+	5	1733	c.954G>A	c.(952-954)aaG>aaA	p.K318K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	318					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCACAACCAAGAGCTGGAAAC	0.542000													9	47					0	0	0.004482	0	0
BCAT1	586	broad.mit.edu	37	12	24989500	24989500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:24989500C>T	ENST00000261192.7	-	8	1374	c.848G>A	c.(847-849)gGc>gAc	p.G283D	BCAT1_ENST00000539282.1_Missense_Mutation_p.G295D|BCAT1_ENST00000539780.1_Missense_Mutation_p.G246D|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.G282D|BCAT1_ENST00000342945.5_Missense_Mutation_p.G222D	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	283					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAGAATGATGCCATCTAGTGG	0.423000													3	19					0	0	0.000602	0	0
BCAR3	8412	broad.mit.edu	37	1	94057828	94057828	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:94057828G>A	ENST00000370244.1	-	6	768	c.480C>T	c.(478-480)ccC>ccT	p.P160P	RP5-1033H22.2_ENST00000427243.1_RNA|RP5-1033H22.2_ENST00000417401.1_RNA|BCAR3_ENST00000260502.6_Silent_p.P160P|BCAR3_ENST00000370247.3_Silent_p.P69P|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370243.1_Silent_p.P160P	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	160	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTACCTGTCGGGGGATGCGGC	0.622000													40	25					0	0	0.014410	0	0
EPHA7	2045	broad.mit.edu	37	6	93967995	93967995	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:93967995G>A	ENST00000369303.4	-	11	2116	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	644	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGACTTCACCGAATTCTCCTG	0.348000													42	16					0	0	0.014410	0	0
KRT20	54474	broad.mit.edu	37	17	39036136	39036136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39036136C>T	ENST00000167588.3	-	5	888	c.847G>A	c.(847-849)Gag>Aag	p.E283K		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	283	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGTTGAACCTCAGTTCCTTTT	0.433000													24	21					0	0	0.003954	0	0
COL6A6	131873	broad.mit.edu	37	3	130311540	130311540	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:130311540G>A	ENST00000358511.6	+	14	4376	c.4344_splice	c.e14-1	p.G1449_splice	COL6A6_ENST00000453409.2_Splice_Site_p.G1449_splice	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1449	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTATTTTCAGGGAAACAGAGG	0.338000													38	44					0	0	0.013114	0	0
HCFC1	3054	broad.mit.edu	37	X	153214806	153214806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153214806C>T	ENST00000310441.7	-	26	7066	c.6100G>A	c.(6100-6102)Ggt>Agt	p.G2034S	HCFC1_ENST00000369984.4_Missense_Mutation_p.G2079S|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1965S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2034					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCACTGACCATCGGCCTTA	0.577000													25	104					0	0	0.007291	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134871	233134871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233134871C>T	ENST00000258229.8	-	31	5817	c.5583G>A	c.(5581-5583)tgG>tgA	p.W1861*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.W513*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1861						integral to membrane		p.W1861C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGTCCAGAACCAGGTCCTAA	0.522000													25	20					0	0	0.003954	0	0
EPHA7	2045	broad.mit.edu	37	6	93953210	93953210	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:93953210G>A	ENST00000369303.4	-	17	3115	c.2931C>T	c.(2929-2931)atC>atT	p.I977I		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	977	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.I977M(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCTGCTCATGATTTTCTTTT	0.373000													17	31					0	0	0.014323	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413617	105413617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:105413617C>T	ENST00000333244.5	-	7	8290	c.8171G>A	c.(8170-8172)gGa>gAa	p.G2724E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2724						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGCCGGCTCCCTCGGGAAC	0.602000													100	134					0	0	0.014410	0	0
HMCN1	83872	broad.mit.edu	37	1	185956651	185956651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:185956651C>T	ENST00000271588.4	+	20	3252	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1008L|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1008	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGGAAATCCCAAACCGTCT	0.428000													64	166					0	0	0.014410	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950847	43950847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:43950847C>T	ENST00000262726.7	-	27	3803	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E1032K|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1184	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTCAAACTCCTGGGTGATG	0.542000													65	91					0	0	0.014410	0	0
KLHL38	340359	broad.mit.edu	37	8	124659241	124659241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:124659241G>A	ENST00000325995.7	-	2	1387	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	455										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CGAGTTTCTGGAAATGTGATA	0.433000													62	99					0	0	0.014410	0	0
ART5	116969	broad.mit.edu	37	11	3661290	3661290	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:3661290G>A	ENST00000397068.3	-	2	761	c.369C>T	c.(367-369)ctC>ctT	p.L123L	ART5_ENST00000397067.3_Silent_p.L123L|ART5_ENST00000359918.4_Silent_p.L123L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	123						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTCATGTAGAGCTCCCGGG	0.607000													33	43					0	0	0.003271	0	0
HOOK2	29911	broad.mit.edu	37	19	12878890	12878890	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:12878890C>T	ENST00000264827.5	-	12	1322	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	HOOK2_ENST00000397668.3_Silent_p.E384E|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	384	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ATAGCCATTTCTCGGCCTTCA	0.597000													35	53					0	0	0.004289	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893218	1893218	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:1893218C>T	ENST00000357103.4	+	7	1262	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	337					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AACGCTTTTTCCCTGGCAAAT	0.527000													26	19					0	0	0.007291	0	0
TTN	7273	broad.mit.edu	37	2	179430716	179430716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179430716C>T	ENST00000589042.1	-	326	80367	c.80143G>A	c.(80143-80145)Gtc>Atc	p.V26715I	TTN_ENST00000359218.5_Missense_Mutation_p.V17775I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17842I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17650I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25074I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24147I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25074	Ig-like 128.						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)			TAGTTCTTGACCTTTGCCCCT	0.433000													27	78					0	0	0.006320	0	0
SI	6476	broad.mit.edu	37	3	164758851	164758851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:164758851G>A	ENST00000264382.3	-	18	2098	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	679	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AACCAAAAGTGAATTCTGCCC	0.338000										HNSCC(35;0.089)			14	39					0	0	0.008871	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561952	11561952	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:11561952C>T	ENST00000294484.6	+	2	1041	c.903C>T	c.(901-903)atC>atT	p.I301I	PTCHD2_ENST00000389575.3_Silent_p.I301I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	301					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCATGAGATCGAGCGCAAGA	0.632000													8	27					0	0	0.004482	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928286	40928286	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:40928286C>T	ENST00000411995.2	+	6	1005	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.P108P	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GGCAAATCCCCCTGATGTGCA	0.413000													39	89					0	0	0.008740	0	0
HPX	3263	broad.mit.edu	37	11	6453222	6453222	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:6453222G>A	ENST00000265983.3	-	8	961	c.861C>T	c.(859-861)acC>acT	p.T287T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	287	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CATCCCGGCTGGTGTCCAGAC	0.572000													25	49					0	0	0.003954	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554362	85554362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:85554362G>A	ENST00000377386.3	-	2	955	c.493C>T	c.(493-495)Cct>Tct	p.P165S	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P165S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165S|TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165S			O43493	TGON2_HUMAN	trans-golgi network protein 2	165	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										GACTTGCTAGGGCTGTCTTTT	0.597000													138	578					0	0	0.014410	0	0
FAM194A	131831	broad.mit.edu	37	3	150400009	150400009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:150400009C>T	ENST00000295910.6	-	7	930	c.878G>A	c.(877-879)gGg>gAg	p.G293E	FAM194A_ENST00000491361.1_Missense_Mutation_p.G147E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	293										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ACTTACATGCCCTTTTGGTTC	0.368000													30	16					0	0	0.010818	0	0
DNAH8	1769	broad.mit.edu	37	6	38754581	38754581	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:38754581G>A	ENST00000359357.3	+	16	2039	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	DNAH8_ENST00000449981.2_Silent_p.G812G|DNAH8_ENST00000441566.1_Silent_p.G595G					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGAAACAGGGAAGTTGCTGG	0.378000													13	25					0	0	0.003163	0	0
ICT1	3396	broad.mit.edu	37	17	73016679	73016679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:73016679C>T	ENST00000301585.5	+	5	476	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	155					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GCAGAAAATTCGAGACATGAT	0.463000													25	33					0	0	0.003954	0	0
SPATA20	64847	broad.mit.edu	37	17	48631613	48631613	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:48631613C>T	ENST00000006658.6	+	15	2079	c.1957_splice	c.e15-1	p.D653_splice	SPATA20_ENST00000356488.4_Splice_Site_p.D637_splice|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Splice_Site_p.D593_splice	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	637					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTGCTGTAGACCAGGATGGAG	0.632000													10	36					0	0	0.008291	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998925	83998925	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:83998925C>T	ENST00000343939.2	+	7	1379	c.996C>T	c.(994-996)ttC>ttT	p.F332F	OSGIN1_ENST00000361711.3_Silent_p.F249F|OSGIN1_ENST00000393306.1_Silent_p.F249F			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	332					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CAGGCACGTTCGACAGCCCGG	0.706000													26	33					0	0	0.008361	0	0
BSN	8927	broad.mit.edu	37	3	49698258	49698258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:49698258C>T	ENST00000296452.4	+	6	9094	c.8980C>T	c.(8980-8982)Cgg>Tgg	p.R2994W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2994					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCAAAGACCGGGGTGGCCG	0.582000													21	36					0	0	0.012319	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072213	17072213	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:17072213G>T	ENST00000359963.3	-	1	1487	c.1228C>A	c.(1228-1230)Cca>Aca	p.P410T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	410					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAGCTCCTGGAATCAGTCTG	0.552000													22	56					4.7796e-09	6.30551e-09	0.004656	1	0
SLC7A1	6541	broad.mit.edu	37	13	30097564	30097564	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:30097564G>C	ENST00000380752.5	-	7	1274	c.888C>G	c.(886-888)atC>atG	p.I296M		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	296					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGATGAAGCAGATCAAGAGGG	0.597000													33	30					0	0	0.003271	0	0
CYB5D2	124936	broad.mit.edu	37	17	4060188	4060188	+	Missense_Mutation	SNP	G	G	A	rs150294786		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:4060188G>A	ENST00000301391.3	+	4	1107	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575411.2_3'UTR|CYB5D2_ENST00000575251.1_Missense_Mutation_p.V91I	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	203					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						CTGGATTGGCGTCCCCAGGAA	0.567000											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					0	0	0.001168	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409289	4409289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4409289C>T	ENST00000301280.5	+	3	594	c.493C>T	c.(493-495)Cag>Tag	p.Q165*		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	165	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCCATTCAGAACGACAA	0.527000								Chromatin Structure					27	49					0	0	0.005443	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333022	55333022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55333022C>T	ENST00000391728.4	+	5	691	c.658C>T	c.(658-660)Cca>Tca	p.P220S	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P220S|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P220S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P220S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P220S|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P125S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCCAGGTCCATATGAGAA	0.547000													88	47					0	0	0.014410	0	0
TJP1	7082	broad.mit.edu	37	15	30010270	30010270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:30010270G>A	ENST00000346128.6	-	22	4403	c.3929C>T	c.(3928-3930)cCc>cTc	p.P1310L	TJP1_ENST00000545208.2_Missense_Mutation_p.P1230L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1234L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1310L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1310					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGAGAAGTGGGTTTGGGACC	0.393000													132	204					0	0	0.014410	0	0
C10orf71	118461	broad.mit.edu	37	10	50530868	50530868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:50530868C>T	ENST00000374144.3	+	3	566	c.278C>T	c.(277-279)tCg>tTg	p.S93L	C10orf71_ENST00000323868.4_Missense_Mutation_p.S93L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	93										endometrium(1)	1						ACGGAACATTCGGGCTGGGCG	0.577000													45	12					0	0	0.014410	0	0
VWA3B	200403	broad.mit.edu	37	2	98744805	98744805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:98744805C>T	ENST00000477737.1	+	6	1010	c.806C>T	c.(805-807)tCc>tTc	p.S269F	VWA3B_ENST00000435344.1_Missense_Mutation_p.S269F|VWA3B_ENST00000451075.2_Missense_Mutation_p.S119F	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	269										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TACACAGTGTCCTTCAACGCC	0.502000													26	97					0	0	0.003954	0	0
KIAA1429	25962	broad.mit.edu	37	8	95556102	95556102	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:95556102G>A	ENST00000297591.5	-	2	207	c.132C>T	c.(130-132)ccC>ccT	p.P44P	KIAA1429_ENST00000437199.1_Silent_p.P44P|KIAA1429_ENST00000421249.2_Silent_p.P44P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	44					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTACTCCTGGGGGTATGACTC	0.403000													145	227					0	0	0.014410	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:7111361C>T	ENST00000306904.5	+	1	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	337	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662000													6	16					0	0	0.003080	0	0
DDX24	57062	broad.mit.edu	37	14	94519365	94519365	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94519365G>A	ENST00000330836.5	-	8	2418	c.2287C>T	c.(2287-2289)Ctg>Ttg	p.L763L	DDX24_ENST00000544005.1_Silent_p.L513L|DDX24_ENST00000555054.1_Silent_p.L720L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	763					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCTTCTTCCAGCTCAATCTCC	0.473000													38	39					0	0	0.006230	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222447	142222447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:142222447G>A	ENST00000519067.1	-	7	2300	c.1997C>T	c.(1996-1998)cCc>cTc	p.P666L	SLC45A4_ENST00000433583.2_Missense_Mutation_p.P659L|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P717L|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P666L			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	717					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGACACGTTGGGATAGATCAC	0.647000													32	35					0	0	0.003271	0	0
CHD5	26038	broad.mit.edu	37	1	6188564	6188564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:6188564G>A	ENST00000262450.3	-	24	3824	c.3725C>T	c.(3724-3726)cCg>cTg	p.P1242L	CHD5_ENST00000378021.1_Missense_Mutation_p.P99L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1242					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTACCTGGCGGGGTGCTACC	0.652000													18	8					0	0	0.007413	0	0
PEAR1	375033	broad.mit.edu	37	1	156874559	156874559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156874559G>A	ENST00000338302.3	+	4	346	c.121G>A	c.(121-123)Gag>Aag	p.E41K	PEAR1_ENST00000292357.7_Missense_Mutation_p.E41K			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	41	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCACCAAGGAGTCCCACTC	0.662000													47	82					0	0	0.014410	0	0
CRYAB	1410	broad.mit.edu	37	11	111782377	111782377	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:111782377A>C	ENST00000533475.1	-	2	521	c.72T>G	c.(70-72)ttT>ttG	p.F24L	CRYAB_ENST00000227251.3_Missense_Mutation_p.F24L|CRYAB_ENST00000531198.1_Missense_Mutation_p.F24L|CRYAB_ENST00000527950.1_Missense_Mutation_p.F24L|CRYAB_ENST00000526180.1_Missense_Mutation_p.F24L|CRYAB_ENST00000533971.1_Missense_Mutation_p.F24L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	24					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGAACTGGTCAAAGAGGCGGC	0.602000													4	7					0	0	0.009096	0	0
CCDC181	57821	broad.mit.edu	37	1	169391179	169391179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169391179G>A	ENST00000545005.1	-	4	997	c.490C>T	c.(490-492)Cct>Tct	p.P164S	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.P164S|CCDC181_ENST00000367805.3_Missense_Mutation_p.P164S					coiled-coil domain containing 181									p.P164S(1)									TCTAGTGGAGGAACTTCCAAA	0.338000													22	51					0	0	0.012319	0	0
ZIK1	284307	broad.mit.edu	37	19	58102591	58102591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:58102591C>T	ENST00000597850.1	+	4	1627	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	ZIK1_ENST00000536878.2_Missense_Mutation_p.S458F|ZIK1_ENST00000599456.1_Missense_Mutation_p.S416F|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAATTCCTTTAGCCAA	0.453000													25	23					0	0	0.005443	0	0
ZNF532	55205	broad.mit.edu	37	18	56587507	56587507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:56587507C>T	ENST00000336078.4	+	4	2764	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	ZNF532_ENST00000589288.1_Missense_Mutation_p.S663F|ZNF532_ENST00000591083.1_Missense_Mutation_p.S663F|ZNF532_ENST00000591230.1_Missense_Mutation_p.S663F|ZNF532_ENST00000591808.1_Missense_Mutation_p.S663F	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGCCTCCTTTCCCATGCCCGT	0.483000													40	53					0	0	0.006999	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764284	109764284	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:109764284C>T	ENST00000602699.1	+	0	745					NR_002718.2																						TGAATGTTTTCCTTTGGCTGT	0.443000													15	27					0	0	0.002450	0	0
ACO2	50	broad.mit.edu	37	22	41919916	41919916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:41919916G>A	ENST00000396512.3	+	12	1545	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ACO2_ENST00000216254.4_Missense_Mutation_p.E485K			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	485					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CGCAAACCCCGAGACCCATGC	0.612000													15	17					0	0	0.007413	0	0
KIF21A	55605	broad.mit.edu	37	12	39752007	39752007	+	Silent	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:39752007A>G	ENST00000395670.3	-	8	1607	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	KIF21A_ENST00000544797.2_Silent_p.L396L|KIF21A_ENST00000541463.2_Silent_p.L396L|KIF21A_ENST00000361418.5_Silent_p.L396L|KIF21A_ENST00000361961.3_Silent_p.L396L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GCTCCATCTGAAGTCGTGTGA	0.398000													78	81					0	0	0.014410	0	0
ERAP2	64167	broad.mit.edu	37	5	96232132	96232132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:96232132C>T	ENST00000437043.3	+	8	2006	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.S387L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	432					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TCATTGAATTCATCCCGCCCT	0.358000													6	3					0	0	0.001984	0	0
CHRM4	1132	broad.mit.edu	37	11	46406896	46406896	+	Silent	SNP	G	G	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:46406896G>T	ENST00000433765.2	-	1	1211	c.1212C>A	c.(1210-1212)gcC>gcA	p.A404A		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	404					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTAGCAGAATGGCAAAGATCG	0.602000													13	17					2.27111e-07	2.98737e-07	0.013537	1	0
HIF1A	3091	broad.mit.edu	37	14	62187153	62187153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:62187153G>A	ENST00000394997.1	+	2	357	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000323441.6_Missense_Mutation_p.R30Q|HIF1A_ENST00000557538.1_5'UTR|HIF1A_ENST00000337138.4_Missense_Mutation_p.R30Q|HIF1A_ENST00000539097.1_Missense_Mutation_p.R54Q			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	30	Helix-loop-helix motif.|Interaction with TSGA10 (By similarity).				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AGATCTCGGCGAAGTAAAGAA	0.413000													36	34					0	0	0.004878	0	0
SAMD7	344658	broad.mit.edu	37	3	169656149	169656149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:169656149C>T	ENST00000428432.2	+	9	1585	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	SAMD7_ENST00000335556.3_Missense_Mutation_p.S399L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	399										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAACTCTTTCATTTCCTATA	0.338000													14	34					0	0	0.002450	0	0
HUWE1	10075	broad.mit.edu	37	X	53621488	53621488	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:53621488G>A	ENST00000342160.3	-	30	3931	c.3474C>T	c.(3472-3474)ctC>ctT	p.L1158L	HUWE1_ENST00000218328.8_Silent_p.L1158L|HUWE1_ENST00000262854.6_Silent_p.L1158L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1158					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCGGAGCAGAGAAATTTTT	0.463000													3	15					0	0	0.004672	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079874	70079874	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:70079874G>A	ENST00000446444.1	-	1	575	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	189					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGAAGGAGGGAAAATCAGTC	0.403000													10	2					0	0	0.008291	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394502	3394502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:3394502G>A	ENST00000378378.4	+	11	1942	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E217K|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E225K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E225K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	513	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTTAGTGGAAGAAACCGGACT	0.572000													53	37					0	0	0.014410	0	0
MINK1	50488	broad.mit.edu	37	17	4789259	4789259	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:4789259C>T	ENST00000355280.6	+	8	889	c.694_splice	c.e8+1	p.P231_splice	MINK1_ENST00000453408.3_Splice_Site_p.P231_splice|MINK1_ENST00000347992.7_Splice_Site_p.P231_splice	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	231	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGGAGCCCCCCGTAAGTTCT	0.567000													18	34					0	0	0.006122	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080232	70080232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:70080232G>A	ENST00000446444.1	-	1	217	c.209C>T	c.(208-210)tCc>tTc	p.S70F	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	70					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S70Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTAAGAGTGGATGCATCATT	0.363000													27	3					0	0	0.009535	0	0
C16orf71	146562	broad.mit.edu	37	16	4787838	4787838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:4787838G>A	ENST00000299320.5	+	3	645	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	C16orf71_ENST00000590191.1_Missense_Mutation_p.R56Q|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	56										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ATCTTCCAGCGAAACCAAACC	0.592000													45	54					0	0	0.014410	0	0
SAMD12	401474	broad.mit.edu	37	8	119391886	119391886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:119391886G>A	ENST00000409003.4	-	4	504	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	SAMD12_ENST00000314727.4_Nonsense_Mutation_p.Q126*|AC023590.1_ENST00000430457.1_Intron	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	126	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGGTTCTCCTGGGCAATCCCC	0.478000													21	23					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9077248	9077248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9077248G>A	ENST00000397910.4	-	3	10401	c.10198C>T	c.(10198-10200)Ccc>Tcc	p.P3400S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3401	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						ACAGTGGAGGGAATGGCTGTG	0.438000													60	88					0	0	0.014410	0	0
AGTR2	186	broad.mit.edu	37	X	115304404	115304404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:115304404G>A	ENST00000371906.4	+	3	1061	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	291					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TAATAGCTGCGAAGTTATAGC	0.488000													43	31					0	0	0.009718	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626432	140626432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140626432C>T	ENST00000231173.3	+	1	1286	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P429K(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGGGACTCCAAGGCTGAAA	0.557000													28	48					0	0	0.007291	0	0
TRIM4	89122	broad.mit.edu	37	7	99489935	99489935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:99489935G>A	ENST00000355947.2	-	7	1483	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	TRIM4_ENST00000349062.2_Missense_Mutation_p.R426C	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	452	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CCAGTCCCACGATCCAGGTAA	0.547000													107	138					0	0	0.014410	0	0
RASGRF2	5924	broad.mit.edu	37	5	80404841	80404841	+	Silent	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:80404841T>C	ENST00000265080.4	+	13	1849	c.1782T>C	c.(1780-1782)ggT>ggC	p.G594G		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	594					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GATGTAATGGTTTAATGACTA	0.323000													14	28					0	0	0.003163	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75548547	75548547	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75548547T>A	ENST00000604729.1	+	2	625	c.328T>A	c.(328-330)Ttt>Att	p.F110I	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.F110I|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.F110I|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.F110I|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.F110I					zinc finger, SWIM-type containing 8																		CCGAATTGCTTTTTGGAGCTT	0.532000													17	3					0	0	0.004007	0	0
DNAH7	56171	broad.mit.edu	37	2	196753010	196753010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:196753010G>A	ENST00000312428.6	-	33	5478	c.5378C>T	c.(5377-5379)tCg>tTg	p.S1793L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1793	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATTCAACCGAAACAGGGAC	0.328000													15	26					0	0	0.004990	0	0
ZNF676	163223	broad.mit.edu	37	19	22363533	22363533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:22363533C>T	ENST00000397121.2	-	3	1303	c.986G>A	c.(985-987)aGa>aAa	p.R329K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.408000													15	47					0	0	0.004990	0	0
SLC38A11	151258	broad.mit.edu	37	2	165802111	165802111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:165802111G>A	ENST00000303735.4	-	3	518	c.188C>T	c.(187-189)cCt>cTt	p.P63L	SLC38A11_ENST00000409058.1_Missense_Mutation_p.P94L|SLC38A11_ENST00000409662.1_Missense_Mutation_p.P63L|SLC38A11_ENST00000409149.3_Missense_Mutation_p.P63L	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	63					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ACCTATAAAAGGATACAAAAA	0.358000													15	47					0	0	0.004007	0	0
KRT36	8689	broad.mit.edu	37	17	39642730	39642730	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:39642730G>A	ENST00000393986.2	-	8	1364	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	KRT36_ENST00000328119.6_Silent_p.T434T			O76013	KRT36_HUMAN	keratin 36	434	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGGGAGCCGGGGTGCAGGGCA	0.622000													12	23					0	0	0.013537	0	0
TRPV4	59341	broad.mit.edu	37	12	110252270	110252270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:110252270C>T	ENST00000418703.2	-	1	426	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TRPV4_ENST00000537083.1_Missense_Mutation_p.G111D|TRPV4_ENST00000541794.1_Missense_Mutation_p.G111D|TRPV4_ENST00000536838.1_Missense_Mutation_p.G77D|TRPV4_ENST00000346520.2_Missense_Mutation_p.G111D|TRPV4_ENST00000544971.1_Missense_Mutation_p.G111D|TRPV4_ENST00000261740.2_Missense_Mutation_p.G111D|TRPV4_ENST00000392719.2_Missense_Mutation_p.G111D	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	111					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ACGATAGGTGCCGTAGTCAAA	0.547000													7	26					0	0	0.001984	0	0
TAF1	6872	broad.mit.edu	37	X	70586253	70586253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:70586253C>T	ENST00000449580.1	+	1	140	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TAF1_ENST00000276072.3_Missense_Mutation_p.S30F|TAF1_ENST00000373790.4_Missense_Mutation_p.S30F|TAF1_ENST00000423759.1_Missense_Mutation_p.S30F			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	30	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACGAAGATTCCGCTGGAGGC	0.582000													29	75					0	0	0.012213	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214154	1214154	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:1214154C>T	ENST00000304460.10	+	6	917	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	287					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCCTCATCTCCTTCTCCA	0.622000													45	39					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9074964	9074964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9074964G>A	ENST00000397910.4	-	3	12685	c.12482C>T	c.(12481-12483)tCc>tTc	p.S4161F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4163	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						AGGTACCAGGGAAGAGGAAGA	0.483000													13	35					0	0	0.002450	0	0
CRLF2	64109	broad.mit.edu	37	X	1317435	1317435	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1317435C>T	ENST00000381567.3	-	5	629	c.630G>A	c.(628-630)caG>caA	p.Q210Q	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	210						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)				TCTCGCCTCTCTGCCAGCATG	0.562000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								94	66					0	0	0.014410	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603668	28603668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:28603668C>T	ENST00000533150.1	-	3	1708	c.592G>A	c.(592-594)Gag>Aag	p.E198K	SULT1A2_ENST00000395630.1_Missense_Mutation_p.E231K|SULT1A2_ENST00000335715.4_Missense_Mutation_p.E231K			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	231					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCTTCATCTCCTTGAACGAC	0.557000													93	134					0	0	0.014410	0	0
LUZP2	338645	broad.mit.edu	37	11	24927567	24927567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:24927567G>A	ENST00000533227.1	+	6	456	c.169G>A	c.(169-171)Gga>Aga	p.G57R	LUZP2_ENST00000336930.6_Missense_Mutation_p.G143R	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	143						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACTCTTGTCAGGAAACAAGCT	0.323000													8	17					0	0	0.010729	0	0
PKP2	5318	broad.mit.edu	37	12	33030801	33030801	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:33030801G>A	ENST00000340811.4	-	3	1121	c.1013C>T	c.(1012-1014)aCt>aTt	p.T338I	PKP2_ENST00000070846.6_Missense_Mutation_p.T338I	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	338			T -> A (in a patient with arrhythmogenic right ventricular cardiomyopathy).		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAGTGAAAGTGCTTCTCTC	0.612000													7	16					0	0	0.003080	0	0
GCK	2645	broad.mit.edu	37	7	44193018	44193018	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:44193018C>T	ENST00000403799.3	-	2	559	c.90G>A	c.(88-90)ctG>ctA	p.L30L	GCK_ENST00000395796.3_Silent_p.L29L|GCK_ENST00000345378.2_Silent_p.L31L|GCK_ENST00000437084.1_Silent_p.L30L|GCK_ENST00000476008.1_5'UTR	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	30					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCACCTTCTTCAGGTCCTCCT	0.632000													300	373					0	0	0.014410	0	0
TTYH2	94015	broad.mit.edu	37	17	72246427	72246427	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:72246427C>T	ENST00000441391.2	+	4	1296	c.84C>T	c.(82-84)ctC>ctT	p.L28L	TTYH2_ENST00000269346.4_Silent_p.L349L|TTYH2_ENST00000529107.1_Silent_p.L328L	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	349						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAATCCAGCTCCTGCTGAACT	0.627000													17	15					0	0	0.007413	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637200	124637200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:124637200C>T	ENST00000526629.1	-	3	2309	c.862G>A	c.(862-864)Gat>Aat	p.D288N	MSANTD2_ENST00000239614.4_Missense_Mutation_p.D466N|MSANTD2_ENST00000374979.3_Missense_Mutation_p.D518N			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	518																	ACTCCGGGATCCACAATACAG	0.413000													42	34					0	0	0.008740	0	0
OR10H1	26539	broad.mit.edu	37	19	15918416	15918416	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15918416C>T	ENST00000334920.2	-	1	520	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGCCCACCAGGCAGGCGC	0.632000													22	31					0	0	0.010504	0	0
CTRC	11330	broad.mit.edu	37	1	15771107	15771107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:15771107G>A	ENST00000375949.4	+	6	526	c.500G>A	c.(499-501)gGc>gAc	p.G167D	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	167	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCAACGGCCCCATTGCT	0.642000													6	40					0	0	0.003080	0	0
NETO1	81832	broad.mit.edu	37	18	70461424	70461424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:70461424C>T	ENST00000327305.6	-	6	1224	c.567G>A	c.(565-567)atG>atA	p.M189I	NETO1_ENST00000299430.2_Missense_Mutation_p.M188I|NETO1_ENST00000583169.1_Missense_Mutation_p.M189I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	189	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCCTTCCTTCATAATTTGTA	0.453000													28	45					0	0	0.006320	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645318	13645318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:13645318G>A	ENST00000361205.4	+	7	1251	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	LDLRAD4_ENST00000592991.1_Missense_Mutation_p.E97K|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.E140K|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.E177K|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.E158K|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.E118K|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.E195K	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CCGGGACCCTGAACAGCAGAT	0.567000													49	62					0	0	0.014410	0	0
ZNF786	136051	broad.mit.edu	37	7	148769063	148769063	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:148769063G>A	ENST00000316286.9	-	3	815	c.543C>T	c.(541-543)ccC>ccT	p.P181P	ZNF786_ENST00000451334.3_Silent_p.P230P|ZNF786_ENST00000491431.1_Silent_p.P267P			Q8N393	ZN786_HUMAN	zinc finger protein 786	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTTCCGGAAGGGGCCCCTCC	0.672000													13	24					0	0	0.002450	0	0
CPE	1363	broad.mit.edu	37	4	166385567	166385567	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:166385567G>A	ENST00000402744.4	+	2	613	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	111					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATACATTGGGAATATGCATG	0.393000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	1					0	0	0.006122	0	0
SPTA1	6708	broad.mit.edu	37	1	158637652	158637652	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158637652C>T	ENST00000368148.3	-	15	2214	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	SPTA1_ENST00000368147.3_Silent_p.Q678Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	678					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTTTACCTTTCTGTTTTGTAG	0.428000													12	29					0	0	0.010729	0	0
COL6A6	131873	broad.mit.edu	37	3	130311541	130311541	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:130311541G>A	ENST00000358511.6	+	14	4377	c.4344_splice	c.e14-1	p.G1449_splice	COL6A6_ENST00000453409.2_Splice_Site_p.G1449_splice	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1449	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TATTTTCAGGGAAACAGAGGA	0.333000													39	44					0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75039159	75039159	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:75039159G>A	ENST00000326665.5	-	14	2453	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	745	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCCACCATGAAATTCATTG	0.368000													34	24					0	0	0.003755	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													7	60					0	0	0.006214	0	0
SCN5A	6331	broad.mit.edu	37	3	38603922	38603922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:38603922C>T	ENST00000413689.1	-	22	4140	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1315Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1316Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1316Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1316					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCCTCAAATCGTGACAGAGC	0.652000													9	6					0	0	0.004482	0	0
OR10H2	26538	broad.mit.edu	37	19	15838868	15838868	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15838868C>T	ENST00000305899.3	+	1	35	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TGGGGCTAAACCACACCTCCA	0.562000													38	73					0	0	0.006230	0	0
NEB	4703	broad.mit.edu	37	2	152536512	152536512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:152536512C>T	ENST00000397345.3	-	31	3269	c.3067G>A	c.(3067-3069)Gaa>Aaa	p.E1023K	NEB_ENST00000172853.10_Missense_Mutation_p.E1023K|NEB_ENST00000427231.2_Missense_Mutation_p.E1023K|NEB_ENST00000604864.1_Missense_Mutation_p.E1023K|NEB_ENST00000409198.1_Missense_Mutation_p.E1023K|NEB_ENST00000603639.1_Missense_Mutation_p.E1023K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1023					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAATAATTTCCTCTCCTTTG	0.393000													4	47					0	0	0.009096	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038717	62038717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:62038717C>T	ENST00000354587.3	-	17	2099	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	KCNQ2_ENST00000357249.2_Missense_Mutation_p.M615I|KCNQ2_ENST00000430658.1_Missense_Mutation_p.M602I|KCNQ2_ENST00000359125.2_Missense_Mutation_p.M633I|KCNQ2_ENST00000359689.1_Missense_Mutation_p.M633I|KCNQ2_ENST00000370224.1_Missense_Mutation_p.M641I|KCNQ2_ENST00000370226.1_Missense_Mutation_p.M603I|KCNQ2_ENST00000344462.3_Missense_Mutation_p.M629I|KCNQ2_ENST00000360480.3_Missense_Mutation_p.M605I			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	633					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTTCTTCTCCATGGACAAGA	0.642000													23	35					0	0	0.003330	0	0
WDR44	54521	broad.mit.edu	37	X	117576557	117576557	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:117576557C>T	ENST00000254029.3	+	17	2693	c.2298C>T	c.(2296-2298)atC>atT	p.I766I	WDR44_ENST00000371822.5_Silent_p.I677I|WDR44_ENST00000371825.3_Silent_p.I766I	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	766						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ACTCCAGAATCAGACTATATG	0.348000													17	62					0	0	0.014323	0	0
LAMC2	3918	broad.mit.edu	37	1	183201805	183201805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:183201805G>A	ENST00000264144.4	+	14	2098	c.2033G>A	c.(2032-2034)gGt>gAt	p.G678D	LAMC2_ENST00000493293.1_Missense_Mutation_p.G678D	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	678	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATCCCTTGGTCTCCAGTTG	0.532000													37	54					0	0	0.005524	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281750	103281750	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103281750C>T	ENST00000233969.2	+	3	1087	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	315						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGTTTGTTTTCCTGTACAGTT	0.438000													22	90					0	0	0.012319	0	0
KMT2E	55904	broad.mit.edu	37	7	104753358	104753358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:104753358C>T	ENST00000334877.4	+	26	5563	c.5029C>T	c.(5029-5031)Cct>Tct	p.P1677S	KMT2E_ENST00000311117.3_Missense_Mutation_p.P1719S|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.P1719S					lysine (K)-specific methyltransferase 2E																		CCCACCACCCCCTCCGCCGCC	0.552000													32	38					0	0	0.009535	0	0
NFASC	23114	broad.mit.edu	37	1	204937416	204937416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:204937416C>T	ENST00000367172.4	+	9	1074	c.746C>T	c.(745-747)cCc>cTc	p.P249L	NFASC_ENST00000404076.1_Missense_Mutation_p.P243L|NFASC_ENST00000338586.6_Missense_Mutation_p.P249L|NFASC_ENST00000539706.1_Missense_Mutation_p.P260L|NFASC_ENST00000339876.6_Missense_Mutation_p.P249L|NFASC_ENST00000360049.4_Missense_Mutation_p.P260L|NFASC_ENST00000367170.4_Missense_Mutation_p.P249L|NFASC_ENST00000513543.1_Missense_Mutation_p.P260L|NFASC_ENST00000403080.1_Missense_Mutation_p.P249L|NFASC_ENST00000367169.4_Missense_Mutation_p.P249L|NFASC_ENST00000367171.4_Missense_Mutation_p.P249L|NFASC_ENST00000401399.1_Missense_Mutation_p.P249L|NFASC_ENST00000404907.1_Missense_Mutation_p.P260L|NFASC_ENST00000338515.6_Missense_Mutation_p.P249L			O94856	NFASC_HUMAN	neurofascin	249	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTCATGTATCCCCAGGGCACC	0.582000													51	81					0	0	0.014410	0	0
CNTROB	116840	broad.mit.edu	37	17	7849121	7849121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:7849121C>T	ENST00000380262.3	+	13	2735	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	CNTROB_ENST00000380255.3_Silent_p.L549L|CNTROB_ENST00000565740.1_Missense_Mutation_p.P604S|CNTROB_ENST00000563694.1_Missense_Mutation_p.P604S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	604	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GACTATGCCTCCCATGGCCGT	0.622000													57	84					0	0	0.014410	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884138	228884138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:228884138C>T	ENST00000392056.3	-	7	1478	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E478K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	478						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)		CTTGAGGTTTCAACAGAGACT	0.527000													38	22					0	0	0.004289	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752371	15752371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:15752371G>A	ENST00000221307.7	+	2	194	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R49Q|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R49Q|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R49Q	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	49					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						TGCCGCCTCCGGTGTTTCCCG	0.637000													26	24					0	0	0.005443	0	0
OR8S1	341568	broad.mit.edu	37	12	48919614	48919614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:48919614C>T	ENST00000310194.1	+	1	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGTCACCTCTCTTTTGTTGAT	0.473000													62	48					0	0	0.014410	0	0
CD2	914	broad.mit.edu	37	1	117311301	117311301	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:117311301A>T	ENST00000369478.3	+	5	1060	c.952A>T	c.(952-954)Aca>Tca	p.T318S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	318	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TCCGTCGGGCACACAAGTTCA	0.607000													23	84					0	0	0.003330	0	0
UNC5D	137970	broad.mit.edu	37	8	35401996	35401996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:35401996G>A	ENST00000453357.2	+	1	87	c.31G>A	c.(31-33)Gat>Aat	p.D11N	UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000420357.1_Intron			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	0					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGCTCTCAGTGATGTCTGTGC	0.428000													29	38					0	0	0.003271	0	0
BLZF1	8548	broad.mit.edu	37	1	169351425	169351425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169351425C>T	ENST00000367808.3	+	6	1346	c.923C>T	c.(922-924)tCt>tTt	p.S308F	BLZF1_ENST00000329281.2_Missense_Mutation_p.S308F			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	308					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GCAGTAAATTCTCATCTTCTG	0.418000													26	44					0	0	0.005443	0	0
CACNA1A	773	broad.mit.edu	37	19	13346509	13346509	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:13346509G>A	ENST00000360228.5	-	32	4985	c.4986C>T	c.(4984-4986)ttC>ttT	p.F1662F	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.F1663F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1663					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGCAGCTCGGAAGAGGCGGA	0.552000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	28					0	0	0.013537	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997507	30997507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:30997507C>T	ENST00000262520.6	+	3	594	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	AC135048.1_ENST00000602217.1_Missense_Mutation_p.M9I|HSD3B7_ENST00000297679.5_Missense_Mutation_p.H102Y|HSD3B7_ENST00000353250.5_Missense_Mutation_p.H102Y	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	102					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGACCATCCATGAGGTCAA	0.617000													9	14					0	0	0.010729	0	0
KIF4B	285643	broad.mit.edu	37	5	154393531	154393531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:154393531G>A	ENST00000435029.4	+	1	272	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	38	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGGGGAGACTCAGGT	0.527000													16	14					0	0	0.006122	0	0
RANBP2	5903	broad.mit.edu	37	2	109382601	109382601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:109382601C>T	ENST00000283195.6	+	20	5732	c.5606C>T	c.(5605-5607)tCa>tTa	p.S1869L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1869					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAAGAAAATTCACCTTCATTT	0.358000													129	59					0	0	0.014410	0	0
ASH2L	9070	broad.mit.edu	37	8	37971719	37971719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:37971719C>T	ENST00000343823.6	+	6	904	c.595C>T	c.(595-597)Cca>Tca	p.P199S	ASH2L_ENST00000524263.1_3'UTR|ASH2L_ENST00000545394.1_Missense_Mutation_p.P60S|ASH2L_ENST00000428278.2_Missense_Mutation_p.P105S|ASH2L_ENST00000521652.1_Missense_Mutation_p.P105S|ASH2L_ENST00000250635.7_Missense_Mutation_p.P105S	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	199					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGATATTATACCATTTATTGA	0.313000													11	20					0	0	0.013537	0	0
CITED1	4435	broad.mit.edu	37	X	71522679	71522679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:71522679C>T	ENST00000246139.5	-	2	616	c.41G>A	c.(40-42)gGc>gAc	p.G14D	CITED1_ENST00000373619.3_Missense_Mutation_p.G14D|CITED1_ENST00000445983.1_Missense_Mutation_p.G14D|CITED1_ENST00000431381.1_Missense_Mutation_p.G40D	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	14					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					aggTGAGGTGCCACCCTTGAC	0.527000													6	12					0	0	0.001168	0	0
NLRP3	114548	broad.mit.edu	37	1	247587759	247587759	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:247587759G>A	ENST00000366497.2	+	4	1794	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.K338K|NLRP3_ENST00000391828.3_Silent_p.K338K|NLRP3_ENST00000336119.3_Silent_p.K338K|NLRP3_ENST00000366496.2_Silent_p.K338K|NLRP3_ENST00000391827.2_Silent_p.K338K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	338	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATCAGAAAGAAGCTGCTTC	0.587000													19	127					0	0	0.007413	0	0
ACSF2	80221	broad.mit.edu	37	17	48551615	48551615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:48551615C>T	ENST00000427954.2	+	16	1902	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	ACSF2_ENST00000300441.4_Missense_Mutation_p.T595I|ACSF2_ENST00000541920.1_Missense_Mutation_p.T435I|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.T582I|ACSF2_ENST00000504392.1_Missense_Mutation_p.T552I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	595					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TACCCCCTCACCATTTCAGGA	0.572000													81	84					0	0	0.014410	0	0
SLC8B1	80024	broad.mit.edu	37	12	113745600	113745600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:113745600G>A	ENST00000552014.1	-	14	1822	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	SLC24A6_ENST00000546737.1_Missense_Mutation_p.A380V|SLC24A6_ENST00000550047.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.A436V			Q6J4K2	NCKX6_HUMAN		436					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTCTGTGGCGGCCGCGTTGAT	0.617000													24	25					0	0	0.003330	0	0
PIGV	55650	broad.mit.edu	37	1	27121647	27121647	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:27121647C>A	ENST00000374145.1	+	3	1804	c.1122C>A	c.(1120-1122)ttC>ttA	p.F374L	PIGV_ENST00000078527.4_Missense_Mutation_p.F374L|PIGV_ENST00000449950.2_Missense_Mutation_p.F146L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	374					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATCTTGGATTCCTCAGTCCTC	0.532000													75	49					1.25742e-37	1.67698e-37	0.014410	1	0
GPR101	83550	broad.mit.edu	37	X	136112408	136112408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:136112408C>T	ENST00000298110.1	-	1	1425	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	476						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGGGGCTTTTCCTTGCAGAAG	0.498000													54	35					0	0	0.014410	0	0
PLIN4	729359	broad.mit.edu	37	19	4511782	4511782	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:4511782C>T	ENST00000301286.3	-	3	2147	c.2148G>A	c.(2146-2148)aaG>aaA	p.K716K		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	716	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGACGGTGTCCTTGGTACCAG	0.577000													33	197					0	0	0.014410	0	0
EP400	57634	broad.mit.edu	37	12	132529392	132529392	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:132529392C>T	ENST00000333577.4	+	38	6895	c.6786C>T	c.(6784-6786)ctC>ctT	p.L2262L	EP400_ENST00000330386.6_Silent_p.L2145L|EP400_ENST00000389562.2_Silent_p.L2225L|EP400_ENST00000389561.2_Silent_p.L2226L|EP400_ENST00000332482.4_Silent_p.L2189L			Q96L91	EP400_HUMAN	E1A binding protein p400	2262					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACATCTACCTCGACTCGGTCA	0.592000													49	45					0	0	0.014410	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364469	142364469	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142364469G>A	ENST00000390397.2	+	0	140																											ACAAAGACAGGAAAGAGGATT	0.443000													12	7					0	0	0.010729	0	0
ZNF563	147837	broad.mit.edu	37	19	12430398	12430398	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:12430398C>T	ENST00000293725.5	-	4	646	c.441G>A	c.(439-441)ggG>ggA	p.G147G	ZNF563_ENST00000595977.1_Silent_p.G147G	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAAGGCTTTCCCACGTTGTT	0.438000													43	47					0	0	0.011902	0	0
RPL18	6141	broad.mit.edu	37	19	49119189	49119189	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49119189G>A	ENST00000549273.1	-	6	469	c.436C>T	c.(436-438)Cga>Tga	p.R146*	RPL18_ENST00000552588.1_Nonsense_Mutation_p.R117*|RPL18_ENST00000550645.1_Intron|RPL18_ENST00000549920.1_Nonsense_Mutation_p.R146*			Q07020	RL18_HUMAN	ribosomal protein L18	146					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TACACCTCTCGGCCCTTGCGA	0.652000													7	8					0	0	0.003080	0	0
MATN4	8785	broad.mit.edu	37	20	43933105	43933105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:43933105C>T	ENST00000537548.1	-	4	650	c.406G>A	c.(406-408)Gag>Aag	p.E136K	MATN4_ENST00000342716.4_Missense_Mutation_p.E136K|MATN4_ENST00000372754.1_Missense_Mutation_p.E136K|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.E136K|MATN4_ENST00000360607.5_Missense_Mutation_p.E136K|MATN4_ENST00000372756.1_Missense_Mutation_p.E136K			O95460	MATN4_HUMAN	matrilin 4	136	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCACGCGCTCCTCTGGCGGT	0.692000													9	8					0	0	0.006214	0	0
NRDE2	55051	broad.mit.edu	37	14	90756590	90756590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:90756590G>A	ENST00000354366.3	-	10	2436	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	NRDE2_ENST00000357904.3_Missense_Mutation_p.S504F	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTGTAACCAGGAGAAGCAGAG	0.473000													20	29					0	0	0.008871	0	0
CCR2	729230	broad.mit.edu	37	3	46401188	46401188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:46401188G>A	ENST00000292301.4	+	3	1447	c.962G>A	c.(961-963)gGc>gAc	p.G321D	CCR2_ENST00000400888.2_Missense_Mutation_p.G321D	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	321					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATAGCTCTTGGCTGTAGGATT	0.502000													46	27					0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58094262	58094262	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:58094262G>A	ENST00000357272.4	+	13	2184	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	FLNB_ENST00000348383.5_Silent_p.K673K|FLNB_ENST00000295956.4_Silent_p.K673K|FLNB_ENST00000490882.1_Silent_p.K673K|FLNB_ENST00000419752.2_Silent_p.K504K|FLNB_ENST00000358537.3_Silent_p.K673K|FLNB_ENST00000429972.2_Silent_p.K673K|FLNB_ENST00000493452.1_Silent_p.K504K			O75369	FLNB_HUMAN	filamin B, beta	673					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATCCTAAGGATGCTGGAA	0.478000													18	22					0	0	0.010504	0	0
CDKL5	6792	broad.mit.edu	37	X	18613499	18613499	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:18613499A>C	ENST00000379989.3	+	11	1061	c.776A>C	c.(775-777)gAa>gCa	p.E259A	CDKL5_ENST00000379996.3_Missense_Mutation_p.E259A	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	259	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAGTCCTTGGAAAGAAGATAC	0.393000													22	57					0	0	0.005443	0	0
MYOCD	93649	broad.mit.edu	37	17	12626229	12626229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:12626229G>A	ENST00000425538.1	+	5	519	c.319G>A	c.(319-321)Gat>Aat	p.D107N	MYOCD_ENST00000343344.4_Missense_Mutation_p.D107N|MYOCD_ENST00000395988.1_Missense_Mutation_p.D11N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	107					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)		ACTCGCCGATGATCTCAATGA	0.458000													71	114					0	0	0.014410	0	0
C10orf35	219738	broad.mit.edu	37	10	71392586	71392586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:71392586C>T	ENST00000373279.4	+	4	296	c.137C>T	c.(136-138)cCt>cTt	p.P46L	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	46						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCAGGGGGTCCTGGCCCCCGC	0.602000													17	8					0	0	0.006122	0	0
HRG	3273	broad.mit.edu	37	3	186395574	186395574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:186395574C>T	ENST00000232003.4	+	7	1560	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	494	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GCCAGACAATCAGCCCTTTCC	0.448000													29	69					0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179430717	179430717	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179430717C>T	ENST00000589042.1	-	326	80366	c.80142G>A	c.(80140-80142)aaG>aaA	p.K26714K	TTN_ENST00000359218.5_Silent_p.K17774K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K17841K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.K17649K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.K25073K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.K24146K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25073	Ig-like 128.						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)			AGTTCTTGACCTTTGCCCCTC	0.428000													29	78					0	0	0.008361	0	0
NCOA1	8648	broad.mit.edu	37	2	24888752	24888752	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:24888752A>T	ENST00000405141.1	+	7	935	c.224A>T	c.(223-225)gAt>gTt	p.D75V	NCOA1_ENST00000395856.3_Missense_Mutation_p.D75V|NCOA1_ENST00000406961.1_Missense_Mutation_p.D75V|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000538539.1_Missense_Mutation_p.D75V|NCOA1_ENST00000348332.3_Missense_Mutation_p.D75V|NCOA1_ENST00000288599.5_Missense_Mutation_p.D75V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	75	Helix-loop-helix motif.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAACAGTCGATCAGATACAG	0.333000			T	PAX3	alveolar rhadomyosarcoma								17	83					0	0	0.004007	0	0
PCF11	51585	broad.mit.edu	37	11	82879498	82879498	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:82879498C>T	ENST00000298281.4	+	8	2573	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	707	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATCTCCATTCAATGATCGTT	0.353000													9	16					0	0	0.004482	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196614	133196614	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:133196614C>T	ENST00000388996.4	-	3	898	c.477_splice	c.e3-1	p.E160_splice	KCNQ3_ENST00000519445.1_Splice_Site_p.E160_splice|KCNQ3_ENST00000521134.1_Splice_Site_p.E40_splice	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	160					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCAAATGTCTCCTGCATGGAA	0.493000													42	68					0	0	0.014410	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100431479	100431479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:100431479G>A	ENST00000279907.7	-	21	4542	c.4330C>T	c.(4330-4332)Ctt>Ttt	p.L1444F	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.L1094F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1444										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCCTCTGCAAGAGCCATTTTA	0.383000													38	24					0	0	0.005524	0	0
GDPD2	54857	broad.mit.edu	37	X	69646805	69646805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:69646805G>A	ENST00000453994.2	+	8	1007	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GDPD2_ENST00000538649.1_Missense_Mutation_p.E137K|GDPD2_ENST00000374382.3_Missense_Mutation_p.E216K|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.E137K	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	216					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTGCATCATGGAACCCAGAGA	0.582000													29	22					0	0	0.009535	0	0
KCNQ4	9132	broad.mit.edu	37	1	41300638	41300638	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:41300638G>A	ENST00000347132.5	+	12	1695		c.e12-1		KCNQ4_ENST00000506017.1_Splice_Site|KCNQ4_ENST00000509682.2_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCCCCCAACAGGATTCTCAAG	0.562000													44	31					0	0	0.013114	0	0
BCL9	607	broad.mit.edu	37	1	147084686	147084686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:147084686C>T	ENST00000234739.3	+	5	798	c.58C>T	c.(58-60)Cct>Tct	p.P20S	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	20					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTTTAGTAGCCCTAAGTCAAA	0.483000			T	"""IGH@, IGL@"""	B-ALL								29	73					0	0	0.013726	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827208	5827208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:5827208C>T	ENST00000381095.3	-	4	1325	c.698G>A	c.(697-699)tGg>tAg	p.W233*	NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.W233*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.W253*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.W233*|NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.W233*	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	233					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTCCTCAATCCACCGCAGTGC	0.537000													16	44					0	0	0.007413	0	0
INSL3	3640	broad.mit.edu	37	19	17927816	17927816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:17927816G>A	ENST00000379695.5	-	3	405	c.338C>T	c.(337-339)cCg>cTg	p.P113L	INSL3_ENST00000317306.7_Silent_p.A81A	NM_001265587.1	NP_001252516.1	P51460	INSL3_HUMAN	insulin-like 3 (Leydig cell)	0					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						GATTACTGTCGGCCACCAGCC	0.612000													23	14					0	0	0.003330	0	0
MYH8	4626	broad.mit.edu	37	17	10301815	10301815	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10301815C>T	ENST00000403437.2	-	30	4218	c.4124G>A	c.(4123-4125)aGa>aAa	p.R1375K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1375					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTATTTGGTTCTCCACTGGGC	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				115	171					0	0	0.014410	0	0
MYB	4602	broad.mit.edu	37	6	135521270	135521270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:135521270G>A	ENST00000341911.5	+	12	1956	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	MYB_ENST00000534121.1_Missense_Mutation_p.R570K|MYB_ENST00000534044.1_Missense_Mutation_p.R465K|MYB_ENST00000533624.1_Missense_Mutation_p.R430K|MYB_ENST00000525369.1_Missense_Mutation_p.R380K|MYB_ENST00000442647.2_Missense_Mutation_p.R462K|MYB_ENST00000528774.1_Missense_Mutation_p.R583K|MYB_ENST00000367814.4_Missense_Mutation_p.R465K|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.R465K|MYB_ENST00000527615.1_Missense_Mutation_p.R465K	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	509					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCTCTCCAAGAACTCCTACA	0.368000			T	NFIB	adenoid cystic carcinoma								42	36					0	0	0.008740	0	0
PCDH11X	27328	broad.mit.edu	37	X	91642774	91642774	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:91642774A>C	ENST00000373094.1	+	5	4030	c.3185A>C	c.(3184-3186)cAg>cCg	p.Q1062P	PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1025P|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1052P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1052P|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1062P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1025P|PCDH11X_ENST00000504220.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1062					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAAGGCTCTCAGGAAAGCAGC	0.498000													11	48					0	0	0.007413	0	0
TAF1L	138474	broad.mit.edu	37	9	32633201	32633201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:32633201G>A	ENST00000242310.4	-	1	2466	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	793					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R793R(2)|p.R793W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTAATTCCCGAATATAGTAA	0.438000													52	9					0	0	0.014410	0	0
DCST2	127579	broad.mit.edu	37	1	155003688	155003688	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:155003688G>A	ENST00000368424.3	-	5	820	c.762C>T	c.(760-762)atC>atT	p.I254I	DCST2_ENST00000295536.5_Silent_p.I254I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	254						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTACTTAGGGATGACGCAGA	0.622000													17	35					0	0	0.004007	0	0
NFE2L3	9603	broad.mit.edu	37	7	26192126	26192126	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:26192126A>T	ENST00000056233.3	+	1	267	c.8A>T	c.(7-9)cAc>cTc	p.H3L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	3					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						gcgATGAAGCACCTGAAGCGG	0.766000													4	15					0	0	0.009096	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573478	140573478	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140573478C>T	ENST00000239446.4	+	1	1537	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		451	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCGCCTTCACCCAAACCT	0.607000													33	40					0	0	0.014410	0	0
OR51V1	283111	broad.mit.edu	37	11	5221910	5221910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5221910C>T	ENST00000321255.1	-	1	20	c.21G>A	c.(19-21)atG>atA	p.M7I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAAGTAATCATTCTGGAAC	0.383000													13	20					0	0	0.013537	0	0
TMEM14B	81853	broad.mit.edu	37	6	10751423	10751423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:10751423C>T	ENST00000467317.1	+	4	253	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TMEM14B_ENST00000379542.5_Missense_Mutation_p.A53V|TMEM14B_ENST00000473276.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000461342.1_Intron|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.A53V|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000379530.3_Intron			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	53						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GGCCTGGGTGCTTACCAGCTG	0.532000													58	44					0	0	0.014410	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515349	233515349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:233515349C>T	ENST00000366624.3	+	9	2858	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	MLK4_ENST00000366622.1_Missense_Mutation_p.P312L	NM_032435.2	NP_115811.2																					AGAAACTTGCCGTCTTCCTTC	0.493000													21	79					0	0	0.003954	0	0
PEF1	553115	broad.mit.edu	37	1	32098208	32098208	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:32098208G>A	ENST00000373703.4	-	4	535	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	171	EF-hand 2.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CGTAGACATCGATGCGGCCTG	0.562000													4	18					0	0	0.000602	0	0
PTPRB	5787	broad.mit.edu	37	12	71029639	71029639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:71029639G>A	ENST00000334414.6	-	2	307	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.S87F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S88F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				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)			GGGTGCCTGGGAACAGCGGTC	0.542000													10	5					0	0	0.006214	0	0
OR2L3	391192	broad.mit.edu	37	1	248224365	248224365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248224365C>T	ENST00000359959.3	+	1	382	c.382C>T	c.(382-384)Cct>Tct	p.P128S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TATTTGCTTTCCTCTTCACTA	0.448000													103	77					0	0	0.014410	0	0
FAM47A	158724	broad.mit.edu	37	X	34150271	34150271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:34150271G>A	ENST00000346193.3	-	1	176	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	42										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTGTCCATGGGTGGGAACCT	0.592000													51	46					0	0	0.014410	0	0
FLNB	2317	broad.mit.edu	37	3	58154278	58154278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:58154278G>A	ENST00000295956.4	+	44	7475	c.7310G>A	c.(7309-7311)gGg>gAg	p.G2437E	FLNB_ENST00000348383.5_Missense_Mutation_p.G2396E|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.G2468E|FLNB_ENST00000419752.2_Missense_Mutation_p.G2257E|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000358537.3_Missense_Mutation_p.G2413E|FLNB_ENST00000429972.2_Missense_Mutation_p.G2426E|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.G2244E	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2437	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCTGAAGGGTACAAAGTC	0.517000													10	44					0	0	0.006214	0	0
USP26	83844	broad.mit.edu	37	X	132161796	132161796	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:132161796C>T	ENST00000511190.1	-	6	922	c.453G>A	c.(451-453)ggG>ggA	p.G151G	USP26_ENST00000406273.1_Silent_p.G151G|USP26_ENST00000370832.1_Silent_p.G151G	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	151					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGACACCTGTCCCACTTCCTT	0.383000													10	13					0	0	0.008291	0	0
CD8A	925	broad.mit.edu	37	2	87015656	87015656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:87015656G>A	ENST00000409511.2	-	8	1683	c.653C>T	c.(652-654)cCc>cTc	p.P218L	CD8A_ENST00000409781.1_Missense_Mutation_p.P181L|CD8A_ENST00000456996.2_Missense_Mutation_p.P181L|CD8A_ENST00000538832.1_Missense_Mutation_p.P259L|CD8A_ENST00000352580.3_Missense_Mutation_p.P181L|CD8A_ENST00000283635.3_Missense_Mutation_p.P218L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	218					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACTCACCGGGGACATTTGCA	0.502000													22	16					0	0	0.014323	0	0
CD22	933	broad.mit.edu	37	19	35836598	35836598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:35836598C>T	ENST00000085219.5	+	12	2368	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	CD22_ENST00000270311.6_Intron|CD22_ENST00000536635.2_Missense_Mutation_p.P680S|CD22_ENST00000594250.1_Missense_Mutation_p.P591S|CD22_ENST00000544992.2_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.P596S|CD22_ENST00000341773.6_Missense_Mutation_p.P591S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	768					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTGCGCTTTCCCGAGATGAA	0.602000													50	33					0	0	0.014410	0	0
DUOXA1	90527	broad.mit.edu	37	15	45409796	45409796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:45409796C>T	ENST00000267803.4	-	11	1768	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	DUOXA1_ENST00000558996.1_3'UTR|DUOXA2_ENST00000323030.5_Intron|DUOXA1_ENST00000430224.2_Missense_Mutation_p.D412N|DUOXA1_ENST00000559014.1_Missense_Mutation_p.D457N	NM_144565.2	NP_653166.2	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		cgcctgtaatcccagcacttt	0.552000													9	18					0	0	0.004482	0	0
TOPORS	10210	broad.mit.edu	37	9	32544245	32544245	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:32544245A>T	ENST00000360538.2	-	3	394	c.278T>A	c.(277-279)gTa>gAa	p.V93E	TOPORS_ENST00000379858.1_Missense_Mutation_p.V28E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCAGCTGGTACTGTCTGTTG	0.378000													41	7					0	0	0.007835	0	0
STRIP1	85369	broad.mit.edu	37	1	110581846	110581846	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:110581846C>T	ENST00000369795.3	+	4	400	c.378C>T	c.(376-378)gcC>gcT	p.A126A	STRIP1_ENST00000369796.1_Silent_p.A31A|STRIP1_ENST00000369794.2_Silent_p.A126A	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GGACCCATGCCATGAGGCTCC	0.527000													16	11					0	0	0.003163	0	0
C5orf20	140947	broad.mit.edu	37	5	134782503	134782503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:134782503G>A	ENST00000503143.2	-	1	535	c.296C>T	c.(295-297)tCg>tTg	p.S99L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	99						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTTCACTCGAAAGATTGGA	0.592000													21	36					0	0	0.010504	0	0
MIR587	693172	broad.mit.edu	37	6	107232011	107232011	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:107232011C>T	ENST00000384845.1	+	0	12					NR_030314.1																						tcctatgcaccctctttccat	0.517000													38	35					0	0	0.007835	0	0
UCP3	7352	broad.mit.edu	37	11	73717422	73717422	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:73717422G>A	ENST00000314032.4	-	3	681	c.129C>T	c.(127-129)atC>atT	p.I43I	UCP3_ENST00000426995.2_Silent_p.I43I|UCP3_ENST00000348534.4_Silent_p.I43I	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	43					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCTCCCCCTGGATCTGAGGGA	0.677000													3	8					0	0	0.004672	0	0
REXO1	57455	broad.mit.edu	37	19	1821539	1821539	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:1821539G>A	ENST00000170168.4	-	5	2467	c.2373C>T	c.(2371-2373)atC>atT	p.I791I		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	791						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GACTGTGGGCGATTCGCTTAG	0.637000													42	49					0	0	0.009718	0	0
NRROS	375387	broad.mit.edu	37	3	196386716	196386716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:196386716C>T	ENST00000328557.4	+	3	405	c.202C>T	c.(202-204)Cct>Tct	p.P68S		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GGATGCCAACCCTCTCAAGAC	0.687000													8	27					0	0	0.004482	0	0
CNTN2	6900	broad.mit.edu	37	1	205027716	205027716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:205027716G>A	ENST00000331830.4	+	5	696	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	138	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATTCTCCAAGGAGGAGCGAGA	0.622000													7	42					0	0	0.003080	0	0
CERS3	204219	broad.mit.edu	37	15	101042026	101042026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:101042026C>T	ENST00000284382.4	-	4	452	c.29G>A	c.(28-30)tGg>tAg	p.W10*	CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Nonsense_Mutation_p.W10*|CERS3_ENST00000538112.2_Nonsense_Mutation_p.W10*	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	10						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCTTTCCAACCAGAACCATTC	0.373000													20	30					0	0	0.012319	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261270	21261270	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:21261270A>G	ENST00000311620.5	+	2	456	c.383A>G	c.(382-384)aAc>aGc	p.N128S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	128										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AACATCATGAACCCCAAGAAG	0.517000													18	24					0	0	0.007413	0	0
OR10G8	219869	broad.mit.edu	37	11	123900987	123900987	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123900987A>G	ENST00000431524.1	+	1	691	c.658A>G	c.(658-660)Atc>Gtc	p.I220V		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATGTGTCCATCGTCTGTTC	0.547000													18	50					0	0	0.008871	0	0
BTBD11	121551	broad.mit.edu	37	12	108011999	108011999	+	Missense_Mutation	SNP	G	G	A	rs139486003		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:108011999G>A	ENST00000280758.5	+	10	2824	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E303K|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.E766K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	766						integral to membrane	DNA binding	p.E766K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTCCCTGGAGGAGATTCTGGC	0.597000													29	25					0	0	0.012213	0	0
FKBP6	8468	broad.mit.edu	37	7	72756871	72756871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:72756871G>A	ENST00000252037.4	+	8	1027	c.958G>A	c.(958-960)Gat>Aat	p.D320N	FKBP6_ENST00000413573.2_Missense_Mutation_p.D290N|FKBP6_ENST00000431982.2_Missense_Mutation_p.D315N	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	320					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCCTGTGGCGATGGTTCTAC	0.537000											OREG0018106	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	70					0	0	0.014410	0	0
SOX3	6658	broad.mit.edu	37	X	139586097	139586097	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:139586097C>A	ENST00000370536.2	-	1	1128	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	377					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751000													5	14					0.00116845	0.00152797	0.001168	1	0
SRPK3	26576	broad.mit.edu	37	X	153048562	153048562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153048562C>T	ENST00000489426.1	+	13	3304	c.938C>T	c.(937-939)tCc>tTc	p.S313F	SRPK3_ENST00000393786.3_Missense_Mutation_p.S246F|SRPK3_ENST00000370101.3_Missense_Mutation_p.S246F|SRPK3_ENST00000370108.3_Missense_Mutation_p.S246F|SRPK3_ENST00000370104.1_Missense_Mutation_p.S246F|SRPK3_ENST00000370100.1_Missense_Mutation_p.S204F			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	246	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCCCCTCCCGCTCCATA	0.682000													12	22					0	0	0.013537	0	0
CD244	51744	broad.mit.edu	37	1	160808741	160808741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:160808741C>T	ENST00000368034.4	-	4	931	c.754G>A	c.(754-756)Gag>Aag	p.E252K	CD244_ENST00000322302.7_Missense_Mutation_p.E160K|CD244_ENST00000368033.3_Missense_Mutation_p.E257K|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.E252K	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	257					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GACTGCTTCTCCTTCCTCTTT	0.532000													13	31					0	0	0.001855	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618552	37618552	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:37618552A>C	ENST00000399151.3	+	19	4359	c.4274A>C	c.(4273-4275)aAc>aCc	p.N1425T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1425					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGTCTCATTAACTTGGGTCAG	0.617000													23	31					0	0	0.002780	0	0
NSUN4	387338	broad.mit.edu	37	1	46810471	46810471	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:46810471A>T	ENST00000474844.1	+	2	743		c.e2-1		NSUN4_ENST00000537428.1_Splice_Site|NSUN4_ENST00000536062.1_Splice_Site|NSUN4_ENST00000498008.1_Splice_Site	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4								methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCTCTCTTTTAGGCTGCCACA	0.502000													55	43					0	0	0.014410	0	0
MEGF8	1954	broad.mit.edu	37	19	42854467	42854467	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:42854467C>T	ENST00000334370.4	+	14	3101	c.2466C>T	c.(2464-2466)tcC>tcT	p.S822S	MEGF8_ENST00000251268.6_Silent_p.S889S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	889						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGTGGGTCCCTGCTGGTGC	0.697000													18	17					0	0	0.004990	0	0
MASTL	84930	broad.mit.edu	37	10	27454413	27454413	+	Silent	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:27454413T>A	ENST00000375946.4	+	6	1359	c.756T>A	c.(754-756)ccT>ccA	p.P252P	MASTL_ENST00000342386.6_Silent_p.P252P|MASTL_ENST00000375940.4_Silent_p.P252P	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	252	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCGTATGCCCTATGTCTGTAG	0.413000													59	16					0	0	0.014410	0	0
CACNA1F	778	broad.mit.edu	37	X	49066810	49066810	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:49066810G>A	ENST00000376265.2	-	39	4633	c.4572C>T	c.(4570-4572)aaC>aaT	p.N1524N	CACNA1F_ENST00000376251.1_Silent_p.N1459N|CACNA1F_ENST00000323022.5_Silent_p.N1513N	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1524					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGAGTGTGGCGTTGAATGTCA	0.552000													49	116					0	0	0.014410	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300654	103300654	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103300654C>T	ENST00000233969.2	+	5	1426	c.1284C>T	c.(1282-1284)gaC>gaT	p.D428D		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	428						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCTTTAAGGACCAGTTCATCA	0.448000													16	93					0	0	0.003163	0	0
NRROS	375387	broad.mit.edu	37	3	196386715	196386715	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:196386715C>T	ENST00000328557.4	+	3	404	c.201C>T	c.(199-201)aaC>aaT	p.N67N		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TGGATGCCAACCCTCTCAAGA	0.692000													8	26					0	0	0.004482	0	0
NCF4	4689	broad.mit.edu	37	22	37271929	37271929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:37271929C>T	ENST00000397147.4	+	8	1046	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	NCF4_ENST00000248899.6_Intron	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	0					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTCCAAAGCCCCCAGTGGCTC	0.627000													57	58					0	0	0.014410	0	0
TGM7	116179	broad.mit.edu	37	15	43572069	43572069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:43572069C>T	ENST00000452443.2	-	10	1436	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	478					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TCCAGGAGATCCAGGAAGGGC	0.607000													60	68					0	0	0.014410	0	0
NCR1	9437	broad.mit.edu	37	19	55418119	55418119	+	Silent	SNP	G	G	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:55418119G>C	ENST00000594765.1	+	3	334	c.309G>C	c.(307-309)ggG>ggC	p.G103G	NCR1_ENST00000291890.4_Silent_p.G103G|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Silent_p.G91G|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Silent_p.G103G|NCR1_ENST00000338835.5_Silent_p.G103G			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	103	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ATCGGGTTGGGGAGCTCTGGT	0.527000													51	36					0	0	0.014410	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095603	103095603	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:103095603C>T	ENST00000295269.4	+	2	1019	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	188					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						GGCCTTTGGCCTGGGCGACGT	0.627000													26	13					0	0	0.004656	0	0
LPIN2	9663	broad.mit.edu	37	18	2931297	2931297	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:2931297G>A	ENST00000261596.4	-	9	1651	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	471					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGCAAAGGGAGAGGGTAACGT	0.542000													11	55					0	0	0.002450	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156930235	156930235	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:156930235G>A	ENST00000368194.3	-	15	2296	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	ARHGEF11_ENST00000361409.2_Silent_p.I379I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	379	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCATCTCAGGGATCTTCACTC	0.517000													45	62					0	0	0.014410	0	0
GPR98	84059	broad.mit.edu	37	5	89954091	89954091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:89954091C>T	ENST00000405460.2	+	21	4844	c.4748C>T	c.(4747-4749)cCa>cTa	p.P1583L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1583					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTTGTATACCAGAGGTAAGT	0.383000													11	16					0	0	0.013537	0	0
FCRL5	83416	broad.mit.edu	37	1	157490932	157490932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:157490932G>A	ENST00000361835.3	-	11	2547	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	FCRL5_ENST00000356953.4_Missense_Mutation_p.S797L|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.S797L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGGGGGACGACCTATTTCC	0.592000													66	99					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179554052	179554052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:179554052G>A	ENST00000589042.1	-	124	32200	c.31976C>T	c.(31975-31977)cCt>cTt	p.P10659L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10342L|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9415L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10342	Glu-rich.|Pro-rich.						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)			CTCCTTCCGAGGAACAGGTTT	0.358000													36	18					0	0	0.007835	0	0
NWD1	284434	broad.mit.edu	37	19	16899851	16899851	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:16899851G>A	ENST00000524140.2	+	13	3208	c.2790G>A	c.(2788-2790)aaG>aaA	p.K930K	NWD1_ENST00000552788.1_Silent_p.K930K|NWD1_ENST00000549814.1_Silent_p.K930K|NWD1_ENST00000523826.1_Silent_p.K724K|NWD1_ENST00000379808.3_Silent_p.K930K|NWD1_ENST00000339803.6_Silent_p.K795K	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	930							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTTCAAAGGATTACACGC	0.502000													26	40					0	0	0.005443	0	0
POLR2J	5439	broad.mit.edu	37	7	102114972	102114972	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:102114972T>C	ENST00000292614.5	-	3	200	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E	POLR2J_ENST00000393794.3_Missense_Mutation_p.K52E	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						TGCGGGTCTTTTAGGAGTTGT	0.562000													88	22					0	0	0.014410	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:83400549C>T	ENST00000262752.2	-	6	445	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_ENST00000543399.1_Silent_p.G146G	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000													3	5					0	0	0.009096	0	0
RNLS	55328	broad.mit.edu	37	10	90074235	90074235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:90074235C>T	ENST00000371947.3	-	6	2203	c.864G>A	c.(862-864)tgG>tgA	p.W288*	RNLS_ENST00000331772.4_Nonsense_Mutation_p.W288*|RNLS_ENST00000437752.1_Nonsense_Mutation_p.W205*	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	288						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GTGAATGTCTCCATTTTTGGC	0.423000													21	8					0	0	0.003330	0	0
IGBP1	3476	broad.mit.edu	37	X	69353833	69353833	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:69353833C>T	ENST00000342206.6	+	1	535	c.36C>T	c.(34-36)ctC>ctT	p.L12L	IGBP1_ENST00000356413.4_Silent_p.L12L			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	12					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGCCGCGGCTCCCCGAGCTGT	0.552000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	19					0	0	0.007413	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813542	24813542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:24813542C>T	ENST00000376451.2	+	8	2056	c.1796C>T	c.(1795-1797)tCc>tTc	p.S599F	KIAA1217_ENST00000396446.1_Missense_Mutation_p.S599F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S881F|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S836F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S881F|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S916F|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S599F|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S599F			Q5T5P2	SKT_HUMAN	KIAA1217	916					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGGCCAGCTCCCCAGCCGTC	0.632000													25	3					0	0	0.003954	0	0
LOC440700	440700	broad.mit.edu	37	1	165678643	165678643	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:165678643C>T	ENST00000400982.2	+	0	654					NR_036683.1																						GGTTGGCTCTCTCTGACTTCT	0.483000													14	48					0	0	0.004007	0	0
DNAH5	1767	broad.mit.edu	37	5	13885301	13885301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:13885301G>A	ENST00000265104.4	-	19	2884	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	927	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAATAGATGATGTCAAGGT	0.413000									Kartagener syndrome				32	42					0	0	0.003271	0	0
HEPHL1	341208	broad.mit.edu	37	11	93754684	93754684	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:93754684G>A	ENST00000315765.9	+	1	158	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	50	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTATTACTGGGAAAAGTTTCA	0.453000													30	61					0	0	0.013726	0	0
WDR49	151790	broad.mit.edu	37	3	167320025	167320025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:167320025G>A	ENST00000308378.3	-	3	447	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	WDR49_ENST00000479765.1_Missense_Mutation_p.P389S|WDR49_ENST00000453925.2_Missense_Mutation_p.P101S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	48										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAACATAGGGATTCCAAAGG	0.388000													7	20					0	0	0.001984	0	0
PTCHD2	57540	broad.mit.edu	37	1	11590963	11590963	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:11590963G>A	ENST00000294484.6	+	16	3240		c.e16-1		PTCHD2_ENST00000389575.3_Splice_Site	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2						cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTTGGGAAAGGGTAGTGTTG	0.602000													103	65					0	0	0.014410	0	0
TCP10	6953	broad.mit.edu	37	6	167790039	167790039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:167790039C>T	ENST00000366827.2	-	5	782	c.571G>A	c.(571-573)Gga>Aga	p.G191R	TCP10_ENST00000397829.4_Missense_Mutation_p.G191R			Q12799	TCP10_HUMAN	t-complex 10	218						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GTCACCTTTCCGTCTTCAGAC	0.512000													38	68					0	0	0.014410	0	0
TACC2	10579	broad.mit.edu	37	10	123903146	123903146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:123903146C>T	ENST00000369005.1	+	7	6099	c.5759C>T	c.(5758-5760)tCg>tTg	p.S1920L	TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1920L|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000515273.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1920						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACATAGTTTCGCCATCTGCC	0.597000											OREG0020589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	8					0	0	0.007835	0	0
CSMD2	114784	broad.mit.edu	37	1	34191035	34191035	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:34191035G>A	ENST00000373381.4	-	17	2786	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	830	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTGATGAGGAACTGGGGAA	0.562000													21	19					0	0	0.008871	0	0
PI16	221476	broad.mit.edu	37	6	36930953	36930953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:36930953G>A	ENST00000373674.3	+	5	1163	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	279						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATGGCAACAGAGGCTCCACC	0.577000													21	60					0	0	0.008871	0	0
TJP3	27134	broad.mit.edu	37	19	3738586	3738586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:3738586G>A	ENST00000541714.2	+	12	1780	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	TJP3_ENST00000539908.2_Missense_Mutation_p.E404K|TJP3_ENST00000262968.9_Missense_Mutation_p.E473K|TJP3_ENST00000587686.1_Missense_Mutation_p.E459K|TJP3_ENST00000589378.1_Missense_Mutation_p.E449K|TJP3_ENST00000382008.3_Missense_Mutation_p.E454K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	454	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGACACGGGAGGAGGCAGT	0.577000													41	75					0	0	0.013114	0	0
MUC5B	727897	broad.mit.edu	37	11	1272716	1272716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:1272716C>T	ENST00000447027.1	+	31	14673	c.14615C>T	c.(14614-14616)tCc>tTc	p.S4872F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4869F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4869	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGCCTCCTCCACTCTGGGA	0.657000													11	26					0	0	0.010729	0	0
TOP3A	7156	broad.mit.edu	37	17	18183973	18183973	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:18183973C>T	ENST00000321105.5	-	17	2236		c.e17-1		TOP3A_ENST00000542570.1_Splice_Site|TOP3A_ENST00000540524.1_Splice_Site	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha						DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGTAGAACCTGGGGACAAA	0.577000													18	34					0	0	0.012319	0	0
SIT1	27240	broad.mit.edu	37	9	35650537	35650537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:35650537C>T	ENST00000259608.3	-	2	284	c.198G>A	c.(196-198)tgG>tgA	p.W66*	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	66					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCCTGGTCCACTGGGACA	0.607000													49	10					0	0	0.014410	0	0
MCM4	4173	broad.mit.edu	37	8	48874103	48874103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:48874103C>T	ENST00000262105.2	+	2	307	c.98C>T	c.(97-99)cCc>cTc	p.P33L	MCM4_ENST00000523944.1_Missense_Mutation_p.P33L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	33					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGTCATCTCCCTCTCAGAGA	0.572000													34	38					0	0	0.010818	0	0
INTS6	26512	broad.mit.edu	37	13	51948811	51948811	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:51948811G>A	ENST00000311234.4	-	14	2323	c.1851C>T	c.(1849-1851)aaC>aaT	p.N617N	INTS6_ENST00000490542.1_Silent_p.N301N|INTS6_ENST00000497989.1_Silent_p.N439N|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Silent_p.N604N|INTS6_ENST00000425000.1_Silent_p.N185N	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	617					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GCTTAAAGGGGTTGCCAAATG	0.373000													18	22					0	0	0.008871	0	0
OR13C9	286362	broad.mit.edu	37	9	107380476	107380476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:107380476C>T	ENST00000259362.1	-	1	9	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GTTTGGTTTTCCCATTCCATT	0.308000													22	0					0	0	0.002780	0	0
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:8678311C>T	ENST00000378641.3	+	11	1523	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	350	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R350C(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522000													26	122					0	0	0.005443	0	0
TRIP12	9320	broad.mit.edu	37	2	230655911	230655911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230655911C>T	ENST00000283943.5	-	29	4425	c.4247G>A	c.(4246-4248)aGa>aAa	p.R1416K	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1464K|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1146K	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1416					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGCTCTTCCTCTTTTACCACC	0.368000													72	38					0	0	0.014410	0	0
ZFHX3	463	broad.mit.edu	37	16	72830885	72830885	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:72830885C>A	ENST00000268489.5	-	9	6368	c.5696G>T	c.(5695-5697)gGa>gTa	p.G1899V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G985V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1899					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTGCCCTCTCCCCCCTCGGC	0.547000													26	47					4.22769e-11	5.59389e-11	0.006320	1	0
NBPF18P	441908	broad.mit.edu	37	1	151992754	151992754	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:151992754G>A	ENST00000432386.1	+	0	2419					NR_103561.1																						TATGCTGAGGGATGAGCTGCA	0.542000													52	248					0	0	0.014410	0	0
MIR521-2	574481	broad.mit.edu	37	19	54219855	54219855	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:54219855C>T	ENST00000384818.1	+	0	8					NR_030203.1																						AGGTCTCGGGCTGTGACTCTC	0.423000													32	102					0	0	0.003271	0	0
BTBD11	121551	broad.mit.edu	37	12	108011998	108011998	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:108011998G>A	ENST00000280758.5	+	10	2823	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	BTBD11_ENST00000357167.4_Silent_p.E302E|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Silent_p.E765E	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	765						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTCCCTGGAGGAGATTCTGG	0.602000													29	24					0	0	0.013726	0	0
LRGUK	136332	broad.mit.edu	37	7	133932392	133932392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:133932392C>T	ENST00000285928.2	+	17	2137	c.2068C>T	c.(2068-2070)Caa>Taa	p.Q690*		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	690							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACTCCTATTTCAAAGGTAGCA	0.408000													17	36					0	0	0.004007	0	0
UBN2	254048	broad.mit.edu	37	7	138967769	138967769	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:138967769G>A	ENST00000288561.8	+	15	2118		c.e15-1		UBN2_ENST00000473989.2_Splice_Site	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTTTACATTAGGAGTGTAGTC	0.373000													22	16					0	0	0.010504	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8434162	8434162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:8434162G>A	ENST00000301455.2	+	4	778	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ANGPTL4_ENST00000393962.2_Intron|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.E36K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	203	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGGACTATTTGAAATCCAGCC	0.572000													16	23					0	0	0.006122	0	0
FCRLA	84824	broad.mit.edu	37	1	161681126	161681126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:161681126C>T	ENST00000367959.2	+	4	672	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.P138S|FCRLA_ENST00000367953.3_Missense_Mutation_p.P127S|FCRLA_ENST00000349527.4_Missense_Mutation_p.P121S|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.P127S|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	121	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGCTCTGGGTCCCCCCGGGCC	0.602000													8	62					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152565696	152565696	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152565696G>A	ENST00000367255.5	-	106	20269	c.19668C>T	c.(19666-19668)tcC>tcT	p.S6556S	SYNE1_ENST00000265368.4_Silent_p.S6556S|SYNE1_ENST00000448038.1_Silent_p.S6485S|SYNE1_ENST00000423061.1_Silent_p.S6485S|SYNE1_ENST00000341594.5_Silent_p.S6168S|SYNE1_ENST00000356820.4_Silent_p.S1080S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6556					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTTGCATGGACGGCTGCT	0.443000										HNSCC(10;0.0054)			32	30					0	0	0.008361	0	0
ILDR1	286676	broad.mit.edu	37	3	121724190	121724190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121724190C>T	ENST00000273691.3	-	3	385	c.280G>A	c.(280-282)Gac>Aac	p.D94N	ILDR1_ENST00000393631.1_Missense_Mutation_p.D94N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D106N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D94N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	94	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGCTGGTTGTCGTTGCAGTCA	0.597000													20	25					0	0	0.010504	0	0
PLG	5340	broad.mit.edu	37	6	161152147	161152147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:161152147G>A	ENST00000308192.9	+	11	1384	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	441	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTTACCACAGACCCCAGCGT	0.502000													43	32					0	0	0.010771	0	0
SOX6	55553	broad.mit.edu	37	11	16119221	16119221	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:16119221G>A	ENST00000352083.6	-	8	989	c.912C>T	c.(910-912)ccC>ccT	p.P304P	SOX6_ENST00000396356.3_Silent_p.P304P|SOX6_ENST00000316399.6_Silent_p.P304P|SOX6_ENST00000528252.1_Silent_p.P304P|SOX6_ENST00000527619.1_Silent_p.P307P|SOX6_ENST00000528429.1_Silent_p.P304P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	304					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGAACTGTACGGGGTAGTTAT	0.463000													3	5					0	0	0.004672	0	0
OTUD4	54726	broad.mit.edu	37	4	146064533	146064533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:146064533G>A	ENST00000454497.2	-	17	1609	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	OTUD4_ENST00000447906.2_Missense_Mutation_p.P556L|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	555							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CGCAGGAGAAGGGCACTCTAA	0.353000													12	3					0	0	0.002450	0	0
PIP	5304	broad.mit.edu	37	7	142836249	142836249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142836249C>T	ENST00000291009.3	+	3	323	c.283C>T	c.(283-285)Cca>Tca	p.P95S		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	95						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGACGACAATCCAAAAACCTT	0.453000													29	44					0	0	0.010818	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245541	137245541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:137245541G>A	ENST00000331858.4	+	2	1123	c.958G>A	c.(958-960)Gga>Aga	p.G320R		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	320					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCAGCCTCGGGGAGAGGAGGC	0.612000													9	23					0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19446738	19446738	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:19446738G>A	ENST00000375267.2	-	69	10249	c.10246C>T	c.(10246-10248)Ctg>Ttg	p.L3416L	UBR4_ENST00000375254.3_Silent_p.L3416L|UBR4_ENST00000375217.2_Silent_p.L3409L|UBR4_ENST00000375226.2_Silent_p.L3392L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3416					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACTCTAACAGGAAACAACGC	0.552000													29	66					0	0	0.006320	0	0
SCYL3	57147	broad.mit.edu	37	1	169857932	169857932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:169857932G>A	ENST00000367772.4	-	2	247	c.50C>T	c.(49-51)cCa>cTa	p.P17L	SCYL3_ENST00000367771.5_Missense_Mutation_p.P17L|SCYL3_ENST00000367770.1_Missense_Mutation_p.P17L|SCYL3_ENST00000470238.1_5'UTR	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	17	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGGTAAATGGTGGTTCTCT	0.438000													35	63					0	0	0.005524	0	0
COL13A1	1305	broad.mit.edu	37	10	71697410	71697410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:71697410G>A	ENST00000356340.3	+	32	2320	c.1784G>A	c.(1783-1785)gGa>gAa	p.G595E	COL13A1_ENST00000520133.1_Missense_Mutation_p.G529E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G573E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G581E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G576E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G573E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G581E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G580E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G576E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G566E|COL13A1_ENST00000398966.3_Missense_Mutation_p.G573E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G558E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G523E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G523E|COL13A1_ENST00000398978.3_Missense_Mutation_p.G595E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G583E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	595	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGACTAGATGGAGCAAAAGGA	0.547000													13	2					0	0	0.001855	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263866	140263866	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140263866G>A	ENST00000289272.2	+	1	2013	c.2013G>A	c.(2011-2013)gaG>gaA	p.E671E	PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.E671E|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGAGAGCGGCCAAG	0.652000													19	34					0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9069185	9069185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:9069185C>T	ENST00000397910.4	-	3	18464	c.18261G>A	c.(18259-18261)atG>atA	p.M6087I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6089	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						TAGTTGAGTTCATCACCAGGG	0.488000													10	14					0	0	0.006214	0	0
DMD	1756	broad.mit.edu	37	X	32563281	32563281	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:32563281C>T	ENST00000357033.4	-	17	2369	c.2163G>A	c.(2161-2163)agG>agA	p.R721R	DMD_ENST00000288447.4_Silent_p.R713R|DMD_ENST00000378677.2_Silent_p.R717R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	721					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCACCTTTTCCTAATTTCAG	0.418000													4	8					0	0	0.009096	0	0
APPBP2	10513	broad.mit.edu	37	17	58531840	58531840	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:58531840C>T	ENST00000083182.3	-	11	1448	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	387					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TTGCAATCTCCTCTAAAATAA	0.318000													49	47					0	0	0.014410	0	0
ATP1A1	476	broad.mit.edu	37	1	116932209	116932209	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:116932209C>T	ENST00000537345.1	+	8	1266	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000369496.4_Silent_p.F270F|ATP1A1_ENST00000295598.5_Silent_p.F301F	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	301					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGGCTGTGTTCCTGGGTGTGT	0.502000													36	27					0	0	0.004289	0	0
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:173996663G>A	ENST00000457714.1	+	6	1301	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.R331Q|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.R291Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R291Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	308					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358000													6	3					0	0	0.001984	0	0
JAM2	58494	broad.mit.edu	37	21	27078381	27078381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:27078381G>A	ENST00000480456.1	+	7	1338	c.788G>A	c.(787-789)aGg>aAg	p.R263K	JAM2_ENST00000312957.5_Missense_Mutation_p.R263K|JAM2_ENST00000425221.2_Missense_Mutation_p.R227K|JAM2_ENST00000400532.1_Missense_Mutation_p.R263K	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	263					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TATGCTCAGAGGAAAGGCTAC	0.408000													36	55					0	0	0.010771	0	0
UNC79	57578	broad.mit.edu	37	14	94046595	94046595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:94046595G>A	ENST00000553484.1	+	19	2688	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	UNC79_ENST00000256339.4_Missense_Mutation_p.G668E|UNC79_ENST00000393151.2_Missense_Mutation_p.G845E|UNC79_ENST00000555664.1_Missense_Mutation_p.G845E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	845						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCTGGGGGGGATCCCACACC	0.448000													35	45					0	0	0.013726	0	0
PITPNM1	9600	broad.mit.edu	37	11	67265651	67265651	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:67265651A>G	ENST00000356404.3	-	11	1852	c.1627T>C	c.(1627-1629)Tac>Cac	p.Y543H	PITPNM1_ENST00000534749.1_Missense_Mutation_p.Y543H|PITPNM1_ENST00000436757.2_Missense_Mutation_p.Y543H	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	543					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AAGGCTGAGTAGGCCTGGTTG	0.657000													9	17					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113267621	113267621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:113267621C>T	ENST00000297405.5	-	62	10142	c.9898G>A	c.(9898-9900)Gga>Aga	p.G3300R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3230R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3131R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3260R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3300	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTCTTTTTCCTTGGGCAGGT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	22					0	0	0.007413	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319624	21319624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:21319624G>A	ENST00000583088.1	+	3	1865	c.970G>A	c.(970-972)Ggt>Agt	p.G324S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G324S	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)		GATCCTGTGGGGTCACCGCTT	0.587000										Prostate(3;0.18)			52	216					0	0	0.014410	0	0
BTBD7	55727	broad.mit.edu	37	14	93760501	93760501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:93760501G>A	ENST00000334746.5	-	3	1172	c.865C>T	c.(865-867)Cga>Tga	p.R289*	BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.R289*|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.R289*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	289	BTB 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AATAAATTTCGAAAAAATGGG	0.398000													17	27					0	0	0.004990	0	0
COL15A1	1306	broad.mit.edu	37	9	101787266	101787266	+	Silent	SNP	T	T	G			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:101787266T>G	ENST00000375001.3	+	15	2388	c.1965T>G	c.(1963-1965)ggT>ggG	p.G655G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	655	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GACCTGCTGGTGAACCTGGGC	0.587000													21	22					0	0	0.003330	0	0
PRX	57716	broad.mit.edu	37	19	40902512	40902512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:40902512G>A	ENST00000324001.7	-	7	2017	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	583	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCATCTCAGGGACTTTCATC	0.552000													67	213					0	0	0.014410	0	0
GRIA1	2890	broad.mit.edu	37	5	153190623	153190623	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:153190623C>T	ENST00000285900.5	+	16	2902	c.2559C>T	c.(2557-2559)gcC>gcT	p.A853A	GRIA1_ENST00000518142.1_Silent_p.A773A|GRIA1_ENST00000340592.5_Silent_p.A853A|GRIA1_ENST00000521843.2_Silent_p.A784A|GRIA1_ENST00000518783.1_Silent_p.A863A|GRIA1_ENST00000448073.4_Silent_p.A863A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	853					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCAACGAAGCCATACGGACAT	0.592000													16	27					0	0	0.008871	0	0
CACNA1F	778	broad.mit.edu	37	X	49069133	49069133	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:49069133G>A	ENST00000376265.2	-	33	4030	c.3969C>T	c.(3967-3969)tcC>tcT	p.S1323S	CACNA1F_ENST00000376251.1_Silent_p.S1258S|CACNA1F_ENST00000323022.5_Silent_p.S1312S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1323					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTACCTGGAAGGACTTGATGA	0.517000													10	17					0	0	0.008291	0	0
NUTM1	256646	broad.mit.edu	37	15	34640724	34640724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:34640724C>T	ENST00000537011.1	+	3	1037	c.655C>T	c.(655-657)Cct>Tct	p.P219S	NUTM1_ENST00000333756.4_Missense_Mutation_p.P191S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P209S					NUT midline carcinoma, family member 1																		GGAAGGAGGTCCTGTGGCCAC	0.572000													21	29					0	0	0.014323	0	0
FRY	10129	broad.mit.edu	37	13	32868652	32868652	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr13:32868652G>C	ENST00000380250.3	+	60	9224	c.8728G>C	c.(8728-8730)Gag>Cag	p.E2910Q	FRY_ENST00000542859.1_Missense_Mutation_p.E280Q|FRY_ENST00000380217.1_Missense_Mutation_p.E92Q	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCCATGCTGGAGTGCCTGAA	0.552000													43	38					0	0	0.014410	0	0
OR51B6	390058	broad.mit.edu	37	11	5373230	5373230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:5373230C>T	ENST00000380219.1	+	1	493	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACTGGTTTCCCTACTGTCG	0.488000													23	36					0	0	0.002780	0	0
SLC22A3	6581	broad.mit.edu	37	6	160863793	160863793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:160863793G>A	ENST00000392145.1	+	8	1319	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	SLC22A3_ENST00000275300.2_Splice_Site_p.G430_splice			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	430						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GTGTTTGCAGGAATAGCATGG	0.398000													12	21					0	0	0.001855	0	0
ERBB2	2064	broad.mit.edu	37	17	37872083	37872083	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:37872083C>T	ENST00000406381.2	+	14	1824	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	ERBB2_ENST00000584601.1_Silent_p.I438I|ERBB2_ENST00000269571.5_Silent_p.I468I|ERBB2_ENST00000541774.1_Silent_p.I453I|ERBB2_ENST00000540147.1_Silent_p.I438I|ERBB2_ENST00000445658.2_Silent_p.I192I|ERBB2_ENST00000540042.1_Silent_p.I438I|ERBB2_ENST00000578199.1_Silent_p.I438I|ERBB2_ENST00000584450.1_Silent_p.I468I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	468					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGCCCTCATCCACCATAACA	0.642000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			34	43					0	0	0.012213	0	0
MCM4	4173	broad.mit.edu	37	8	48874104	48874104	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:48874104C>T	ENST00000262105.2	+	2	308	c.99C>T	c.(97-99)ccC>ccT	p.P33P	MCM4_ENST00000523944.1_Silent_p.P33P	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	33					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGTCATCTCCCTCTCAGAGAC	0.572000													34	38					0	0	0.010818	0	0
PLCB2	5330	broad.mit.edu	37	15	40581116	40581116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:40581116G>A	ENST00000260402.3	-	32	3607	c.3358C>T	c.(3358-3360)Cag>Tag	p.Q1120*	PLCB2_ENST00000456256.2_Nonsense_Mutation_p.Q1105*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.Q1116*	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1120					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCTCCTTCTGGAACTGTGGA	0.632000													31	27					0	0	0.004878	0	0
MMAA	166785	broad.mit.edu	37	4	146576316	146576316	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:146576316C>T	ENST00000281317.5	+	7	2197	c.987C>T	c.(985-987)gcC>gcT	p.A329A	MMAA_ENST00000541599.1_Silent_p.A48A	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	329						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTATTTCTGCCCGAAGTGGAG	0.428000													26	4					0	0	0.003954	0	0
KCNS3	3790	broad.mit.edu	37	2	18112726	18112726	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:18112726C>T	ENST00000403915.1	+	3	902	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.L151L			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	151					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGAGTCGTCTCTGTTTGAGAA	0.502000													58	25					0	0	0.014410	0	0
CDH20	28316	broad.mit.edu	37	18	59221637	59221637	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:59221637C>T	ENST00000262717.4	+	12	2513	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	CDH20_ENST00000536675.2_Silent_p.I705I|CDH20_ENST00000538374.1_Silent_p.I705I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGCCCGAGATCGAGAGCCTCT	0.677000													28	30					0	0	0.005443	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585181	70585181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:70585181G>A	ENST00000260126.3	-	10	3176	c.2470C>T	c.(2470-2472)Ccc>Tcc	p.P824S	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P769S|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	824						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGGAAGGGCCCCGGGTAG	0.582000													37	52					0	0	0.003755	0	0
ZNF48	197407	broad.mit.edu	37	16	30410178	30410178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:30410178C>T	ENST00000320159.2	+	2	1983	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	536	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGGGCCCAGCCTTCTGGACCC	0.657000													44	64					0	0	0.014410	0	0
PEX11G	92960	broad.mit.edu	37	19	7543203	7543203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:7543203G>A	ENST00000593942.1	-	6	780	c.278C>T	c.(277-279)aCc>aTc	p.T93I	PEX11G_ENST00000221480.1_Missense_Mutation_p.T163I|PEX11G_ENST00000599519.1_5'UTR			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	163						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CTCCTACCTGGTGAAGGGCGC	0.701000													3	17					0	0	0.004672	0	0
ZNF493	284443	broad.mit.edu	37	19	21607543	21607543	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:21607543C>T	ENST00000392288.2	+	4	2191	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.F566F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCAAAACTTTCTACCGATTCT	0.348000													11	10					0	0	0.010729	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273929	10273929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:10273929C>T	ENST00000396573.2	-	3	649	c.340G>A	c.(340-342)Gat>Aat	p.D114N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D114N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D114N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D114N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D114N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	114					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAGATAAAATCCAGCATCTGG	0.602000													31	53					0	0	0.008361	0	0
PRX	57716	broad.mit.edu	37	19	40902513	40902513	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:40902513G>A	ENST00000324001.7	-	7	2016	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	582	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCATCTCAGGGACTTTCATCT	0.557000													67	214					0	0	0.014410	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153958249	153958249	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:153958249G>A	ENST00000356448.4	+	12	2465	c.2181G>A	c.(2179-2181)ggG>ggA	p.G727G	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.G727G	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	727	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CTTCTCCAGGGAAGAACAGCT	0.423000													10	17					0	0	0.006214	0	0
EPPK1	83481	broad.mit.edu	37	8	144940512	144940512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:144940512C>T	ENST00000525985.1	-	2	6981	c.6910G>A	c.(6910-6912)Gag>Aag	p.E2304K				P58107	EPIPL_HUMAN	epiplakin 1	2304						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGCGCGCTCGGCCGACAGC	0.692000													16	186					0	0	0.004007	0	0
RSPO1	284654	broad.mit.edu	37	1	38079494	38079494	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:38079494C>T	ENST00000356545.2	-	7	1294	c.507G>A	c.(505-507)cgG>cgA	p.R169R	RSPO1_ENST00000401068.1_Silent_p.R169R|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401069.1_Silent_p.R169R|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Silent_p.R142R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	169	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGAGCCCCTCCGGAAACCAC	0.627000													13	51					0	0	0.004990	0	0
POTEC	388468	broad.mit.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs45626231		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:14543063A>C	ENST00000358970.5	-	1	82	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547000													9	173					0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	216246510	216246510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:216246510C>T	ENST00000366943.2	-	28	6091	c.5705G>A	c.(5704-5706)gGa>gAa	p.G1902E	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1902E|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1902	Fibronectin type-III 5.				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)		GGAGTCATTTCCCCTGCAGTT	0.488000										HNSCC(13;0.011)			4	21					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150924393	150924393	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:150924393A>C	ENST00000261800.5	-	9	6307	c.6295T>G	c.(6295-6297)Ttg>Gtg	p.L2099V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2099	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGTCCCCAAGTCCTCATCA	0.448000													22	57					0	0	0.007291	0	0
IKZF2	22807	broad.mit.edu	37	2	213872400	213872400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:213872400C>T	ENST00000457361.1	-	8	1433	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	IKZF2_ENST00000374327.4_Missense_Mutation_p.G277E|IKZF2_ENST00000434687.1_Missense_Mutation_p.G422E|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.G428E|IKZF2_ENST00000451136.2_Missense_Mutation_p.G350E|IKZF2_ENST00000374319.4_Missense_Mutation_p.G396E|IKZF2_ENST00000421754.2_Missense_Mutation_p.G348E	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GGCAGGGTGTCCTTGGTAGGA	0.517000													7	48					0	0	0.004482	0	0
AP1B1	162	broad.mit.edu	37	22	29745331	29745331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:29745331G>A	ENST00000357586.2	-	11	1499	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	AP1B1_ENST00000415447.1_Missense_Mutation_p.S438F|AP1B1_ENST00000402502.1_Missense_Mutation_p.S438F|AP1B1_ENST00000356015.2_Missense_Mutation_p.S438F|AP1B1_ENST00000317368.7_Missense_Mutation_p.S438F|AP1B1_ENST00000405198.1_Missense_Mutation_p.S438F|AP1B1_ENST00000432560.2_Missense_Mutation_p.S438F	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	438					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCATCCAGGGAGTCCAGATT	0.587000													45	79					0	0	0.014410	0	0
ATP1A4	480	broad.mit.edu	37	1	160125918	160125918	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:160125918C>T	ENST00000368081.4	+	4	966	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	165					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCAAGATCATGGAGTCTT	0.517000													32	83					0	0	0.003271	0	0
DDX25	29118	broad.mit.edu	37	11	125778110	125778110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:125778110G>A	ENST00000263576.6	+	5	486	c.331G>A	c.(331-333)Gga>Aga	p.G111R	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	111					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GTTACTAAAAGGAATCTATGC	0.378000													6	8					0	0	0.001984	0	0
WDR62	284403	broad.mit.edu	37	19	36574029	36574029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:36574029C>T	ENST00000401500.2	+	11	1471	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	WDR62_ENST00000270301.7_Missense_Mutation_p.P479L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	479					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCACACTTCCCAGACCGGGGG	0.612000													4	16					0	0	0.009096	0	0
CPZ	8532	broad.mit.edu	37	4	8609122	8609122	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:8609122G>A	ENST00000382480.2	+	7	1586	c.786G>A	c.(784-786)gaG>gaA	p.E262E	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.E388E|CPZ_ENST00000360986.4_Silent_p.E399E	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	399					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.K400del(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCAGGAGGAGAAGATGTTTT	0.622000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	4					0	0	0.006122	0	0
MROH2B	133558	broad.mit.edu	37	5	41018473	41018473	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:41018473G>A	ENST00000399564.4	-	27	3183	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	MROH2B_ENST00000506092.2_Silent_p.I466I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTTCGCAGTGATCTGGAAGG	0.393000													7	11					0	0	0.003080	0	0
RRP1B	23076	broad.mit.edu	37	21	45094999	45094999	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:45094999C>T	ENST00000340648.4	+	6	621	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	168					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GATTCCACTTCATTGATATTT	0.537000													70	110					0	0	0.014410	0	0
GLCCI1	113263	broad.mit.edu	37	7	8099874	8099874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:8099874C>T	ENST00000223145.5	+	5	1519	c.962C>T	c.(961-963)tCc>tTc	p.S321F	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	321										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAAGAAGTATCCAAGGTAAGG	0.338000													17	28					0	0	0.004007	0	0
SPEN	23013	broad.mit.edu	37	1	16259334	16259334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:16259334C>T	ENST00000375759.3	+	11	6803	c.6599C>T	c.(6598-6600)cCa>cTa	p.P2200L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2200	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCCTTGCCCCAGAGGACAGG	0.577000													51	30					0	0	0.014410	0	0
UPF3B	65109	broad.mit.edu	37	X	118968882	118968882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:118968882C>T	ENST00000276201.2	-	11	1480	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	UPF3B_ENST00000345865.2_Missense_Mutation_p.E458K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	471	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ATACCACTTTCCTGCTTCCTT	0.507000													40	153					0	0	0.008740	0	0
AMY2B	280	broad.mit.edu	37	1	104115688	104115688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:104115688C>T	ENST00000361355.4	+	5	935	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTTCTAGGTTCGTATTTATGT	0.363000													104	121					0	0	0.014410	0	0
KIAA1109	84162	broad.mit.edu	37	4	123167914	123167914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr4:123167914C>T	ENST00000264501.4	+	34	5634	c.5261C>T	c.(5260-5262)tCc>tTc	p.S1754F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1754F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1754F			Q2LD37	K1109_HUMAN	KIAA1109	1754					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTCATGTTTCCCTAGTGGCA	0.393000													20	5					0	0	0.014323	0	0
CCR9	10803	broad.mit.edu	37	3	45942763	45942763	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:45942763G>A	ENST00000357632.2	+	3	663	c.483G>A	c.(481-483)agG>agA	p.R161R	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.R149R|CCR9_ENST00000395963.2_Silent_p.R149R|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	161					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGAGAAAAGGCTTTTGTACA	0.478000													22	26					0	0	0.014323	0	0
HCFC1	3054	broad.mit.edu	37	X	153214805	153214805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:153214805C>T	ENST00000310441.7	-	26	7067	c.6101G>A	c.(6100-6102)gGt>gAt	p.G2034D	HCFC1_ENST00000369984.4_Missense_Mutation_p.G2079D|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1965D	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2034					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCACTGACCATCGGCCTT	0.582000													24	103					0	0	0.005443	0	0
MROH2B	133558	broad.mit.edu	37	5	41007551	41007551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:41007551G>A	ENST00000399564.4	-	34	4064	c.3614C>T	c.(3613-3615)tCa>tTa	p.S1205L	MROH2B_ENST00000506092.2_Missense_Mutation_p.S760L	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGTAGCAGTTGAAAGCCTAAA	0.443000													5	8					0	0	0.001168	0	0
CPT1B	1375	broad.mit.edu	37	22	51008789	51008789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:51008789G>A	ENST00000360719.2	-	17	2212	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	CPT1B_ENST00000312108.7_Missense_Mutation_p.S692F|CPT1B_ENST00000457250.1_Missense_Mutation_p.S658F|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.S611F|CPT1B_ENST00000395650.2_Missense_Mutation_p.S692F|CPT1B_ENST00000405237.3_Missense_Mutation_p.S692F|CPT1B_ENST00000434492.2_Missense_Mutation_p.S487F	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	692					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCGGATCTGGGATTGGGGGAT	0.627000													42	57					0	0	0.014410	0	0
LCE3D	84648	broad.mit.edu	37	1	152552228	152552228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:152552228C>T	ENST00000368787.3	-	2	241	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	62					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCGCCGGCATCGGTGGTGGCG	0.687000													48	95					0	0	0.013114	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677461	19677461	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:19677461C>T	ENST00000328041.6	+	14	1709	c.1512C>T	c.(1510-1512)acC>acT	p.T504T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	504						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGTTACACCCTGGGGATTC	0.572000													30	60					0	0	0.010818	0	0
EN2	2020	broad.mit.edu	37	7	155255077	155255077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:155255077C>T	ENST00000297375.4	+	2	946	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	233						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCAGGTCTCGAAAACCAAA	0.582000													59	107					0	0	0.014410	0	0
ARL13A	392509	broad.mit.edu	37	X	100240789	100240789	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:100240789G>A	ENST00000450049.2	+	4	377	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	88							GTP binding			endometrium(1)|ovary(1)	2						ACTATGCACAGGCCCATGGGC	0.473000													10	28					0	0	0.010729	0	0
MET	4233	broad.mit.edu	37	7	116411995	116411995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:116411995G>A	ENST00000397752.3	+	14	3180	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	MET_ENST00000318493.6_Missense_Mutation_p.E1012K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	994					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCAACTACAGAAATGGTTTC	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				26	23					0	0	0.008361	0	0
MORC2	22880	broad.mit.edu	37	22	31333803	31333803	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr22:31333803G>A	ENST00000215862.4	-	15	2545	c.1183_splice	c.e15+1	p.I394_splice	MORC2_ENST00000469915.1_Intron|MORC2_ENST00000397641.2_Splice_Site_p.I456_splice	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	456							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCCCATTACCGATGGCAATAT	0.537000													45	47					0	0	0.014410	0	0
HYOU1	10525	broad.mit.edu	37	11	118916501	118916501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:118916501G>A	ENST00000404233.3	-	25	3054	c.2930C>T	c.(2929-2931)cCt>cTt	p.P977L	HYOU1_ENST00000525859.1_Missense_Mutation_p.P915L|HYOU1_ENST00000529972.1_Missense_Mutation_p.P915L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	977						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCTGCTCCAGGACCTCCTAA	0.562000													10	47					0	0	0.010729	0	0
OR4K1	79544	broad.mit.edu	37	14	20404734	20404734	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr14:20404734C>T	ENST00000285600.4	+	1	968	c.909C>T	c.(907-909)aaC>aaT	p.N303N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCTGAGAAACCGTCATGTGA	0.428000													13	82					0	0	0.001855	0	0
NEBL	10529	broad.mit.edu	37	10	21120139	21120139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:21120139C>T	ENST00000377122.4	-	16	2053	c.1657G>A	c.(1657-1659)Gaa>Aaa	p.E553K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	553					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATAGATTTCAGATGTCCTC	0.378000													18	4					0	0	0.007413	0	0
HSD11B1	3290	broad.mit.edu	37	1	209880344	209880344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:209880344C>T	ENST00000367028.2	+	5	557	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.H130Y|HSD11B1_ENST00000367027.3_Missense_Mutation_p.H130Y	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	130					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAATCTTTTTCATGATGATAT	0.448000													62	58					0	0	0.014410	0	0
RADIL	55698	broad.mit.edu	37	7	4874815	4874815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:4874815G>A	ENST00000399583.3	-	4	1026	c.839C>T	c.(838-840)cCc>cTc	p.P280L	RADIL_ENST00000536091.1_Missense_Mutation_p.P280L|RADIL_ENST00000538469.1_Missense_Mutation_p.P40L	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	280					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)		CTTGCTGGAGGGGGTCCGCTG	0.687000													8	14					0	0	0.008291	0	0
PLCB4	5332	broad.mit.edu	37	20	9459617	9459617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr20:9459617G>A	ENST00000378493.1	+	35	3524	c.3509G>A	c.(3508-3510)aGa>aAa	p.R1170K	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.R1182K|PLCB4_ENST00000378501.2_Silent_p.Q1182Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R1182K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R1170K|PLCB4_ENST00000334005.3_Silent_p.Q1182Q			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1170					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATGGACCGCAGACCAGCAACA	0.443000													11	15					0	0	0.010729	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420403	69420403	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:69420403G>A	ENST00000357336.3	+	13	1574	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	431										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AATTTCCCAAGAAGCTGAAGG	0.353000													9	119					0	0	0.013537	0	0
FBXO40	51725	broad.mit.edu	37	3	121340282	121340282	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:121340282G>A	ENST00000338040.4	+	3	420	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	2					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GTGTCCAGGGGAAAGCCCGCA	0.507000													33	69					0	0	0.004878	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565171	20565171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:20565171C>T	ENST00000329697.6	-	5	836	c.668G>A	c.(667-669)gGg>gAg	p.G223E	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G223E|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G223E|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G144E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	223					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACTGGTCCCACTAGTGAA	0.512000													42	38					0	0	0.010771	0	0
CADM2	253559	broad.mit.edu	37	3	85984922	85984922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:85984922C>T	ENST00000383699.3	+	7	1333	c.706C>T	c.(706-708)Cca>Tca	p.P236S	CADM2_ENST00000405615.2_Missense_Mutation_p.P229S|CADM2_ENST00000407528.2_Missense_Mutation_p.P227S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	227	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTAGATACACCATCAGTTAA	0.318000													17	41					0	0	0.004007	0	0
UBR2	23304	broad.mit.edu	37	6	42631091	42631091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:42631091C>T	ENST00000372901.1	+	32	3890	c.3632C>T	c.(3631-3633)cCc>cTc	p.P1211L	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.P1211L			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1211					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTCCTTTGCCCCCTTTGTGAA	0.378000													7	49					0	0	0.004482	0	0
SOX6	55553	broad.mit.edu	37	11	16340058	16340058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:16340058G>A	ENST00000352083.6	-	3	456	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	SOX6_ENST00000396356.3_Missense_Mutation_p.L127F|SOX6_ENST00000316399.6_Missense_Mutation_p.L127F|SOX6_ENST00000528252.1_Missense_Mutation_p.L127F|SOX6_ENST00000527619.1_Missense_Mutation_p.L130F|SOX6_ENST00000528429.1_Missense_Mutation_p.L127F|SOX6_ENST00000533658.1_5'UTR			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	127					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ACATCGGCAAGACTCCCTTTG	0.498000													30	33					0	0	0.010818	0	0
GRM8	2918	broad.mit.edu	37	7	126086239	126086239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:126086239C>T	ENST00000339582.2	-	10	3426	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRM8_ENST00000358373.3_Missense_Mutation_p.G873E|GRM8_ENST00000444921.2_Missense_Mutation_p.G873E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	873					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTGTCATTTCCTTTTTGGAT	0.438000										HNSCC(24;0.065)			20	20					0	0	0.007413	0	0
THBS2	7058	broad.mit.edu	37	6	169648823	169648823	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:169648823G>A	ENST00000366787.3	-	4	547	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	100	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGAGCCAACAGCGTGCCCCTG	0.622000													36	35					0	0	0.004289	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032418	142032418	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142032418C>T	ENST00000547918.2	+	0	271																											ATCGGGGCTTCCCCGTGATCG	0.552000													14	10					0	0	0.002450	0	0
FANCC	2176	broad.mit.edu	37	9	98011571	98011571	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr9:98011571C>T	ENST00000289081.3	-	2	257	c.3G>A	c.(1-3)atG>atA	p.M1I	FANCC_ENST00000375305.1_Start_Codon_SNP_p.M1I	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	1					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				AATCTTGAGCCATCTTGGAAA	0.438000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	1					0	0	0.013537	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255623	6255623	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:6255623C>T	ENST00000379775.4	+	2	444	c.114C>T	c.(112-114)atC>atT	p.I38I	PFKFB3_ENST00000536985.1_Silent_p.I18I|PFKFB3_ENST00000540253.1_Silent_p.I52I|PFKFB3_ENST00000379789.4_Silent_p.I18I|PFKFB3_ENST00000317350.4_Silent_p.I38I|PFKFB3_ENST00000360521.2_Silent_p.I38I|PFKFB3_ENST00000379782.3_Silent_p.I38I|PFKFB3_ENST00000379785.1_Silent_p.I38I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	38	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.I38I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCACCGTCATCGTCATGGTGG	0.582000													82	13					0	0	0.014410	0	0
NANOS3	342977	broad.mit.edu	37	19	13988320	13988320	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:13988320C>T	ENST00000397555.2	+	2	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S	NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000339133.5_Silent_p.S86S|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	67					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			ACGGCGAGTCCCGGGCCATCT	0.652000													11	16					0	0	0.008291	0	0
HAVCR2	84868	broad.mit.edu	37	5	156531730	156531730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:156531730C>T	ENST00000307851.4	-	3	1155	c.425G>A	c.(424-426)aGa>aAa	p.R142K	HAVCR2_ENST00000522593.1_Intron	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	142						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGAAGTCTCTCTGCCGAGT	0.493000													68	96					0	0	0.014410	0	0
DMBT1	1755	broad.mit.edu	37	10	124380834	124380834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:124380834C>T	ENST00000368909.3	+	41	5265	c.5159C>T	c.(5158-5160)cCc>cTc	p.P1720L	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P1720L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1710L|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1092L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1092L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1710L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1720	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGAGCTGCCCCCACAAAGGC	0.612000													76	14					0	0	0.014410	0	0
ESCO2	157570	broad.mit.edu	37	8	27657108	27657108	+	Silent	SNP	G	G	A	rs149917909		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:27657108G>A	ENST00000305188.8	+	10	1786	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	ESCO2_ENST00000397418.2_Silent_p.T164T	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	516					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CAAGCTCTACGGAATGTCCTA	0.458000									SC Phocomelia syndrome				48	63					0	0	0.014410	0	0
FAM83E	54854	broad.mit.edu	37	19	49113145	49113145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:49113145G>A	ENST00000263266.3	-	3	935	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	249										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTAGGATCCTGAGATGACCCT	0.667000													18	4					0	0	0.007413	0	0
C8orf22	492307	broad.mit.edu	37	8	49985420	49985420	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:49985420C>T	ENST00000303202.8	+	2	204	c.31C>T	c.(31-33)Cta>Tta	p.L11L	C8orf22_ENST00000517663.1_Silent_p.L11L|C8orf22_ENST00000522267.1_Silent_p.L11L|C8orf22_ENST00000399653.4_Silent_p.L11L	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	11										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGGTTGCCTTCTAGCCAGAAA	0.428000													67	78					0	0	0.014410	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661321	113661321	+	RNA	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:113661321C>T	ENST00000393544.2	+	0	1369																											TGAAGGAGTTCGTCTTTGATG	0.493000													31	22					0	0	0.010818	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517794	158517794	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:158517794G>A	ENST00000302617.3	-	1	101	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCAGGAAAATGGAGAAAAAGA	0.443000													14	35					0	0	0.001855	0	0
EPHA3	2042	broad.mit.edu	37	3	89259185	89259185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:89259185C>T	ENST00000336596.2	+	3	554	c.329C>T	c.(328-330)cCa>cTa	p.P110L	EPHA3_ENST00000452448.2_Missense_Mutation_p.P110L|EPHA3_ENST00000494014.1_Missense_Mutation_p.P110L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	110						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AATAGCATTCCATTGGTTTTA	0.423000										TSP Lung(6;0.00050)			23	36					0	0	0.003330	0	0
TRIP12	9320	broad.mit.edu	37	2	230663753	230663753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:230663753G>A	ENST00000283943.5	-	22	3273	c.3095C>T	c.(3094-3096)aCc>aTc	p.T1032I	TRIP12_ENST00000389044.4_Missense_Mutation_p.T1080I|TRIP12_ENST00000389045.3_Missense_Mutation_p.T762I|TRIP12_ENST00000543084.1_3'UTR	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1032					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGAGTAGTGGTGGGGCTTTT	0.368000													45	49					0	0	0.013114	0	0
HYDIN	54768	broad.mit.edu	37	16	71025992	71025992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:71025992C>T	ENST00000393567.2	-	24	3916	c.3766G>A	c.(3766-3768)Gat>Aat	p.D1256N	HYDIN_ENST00000448089.2_Missense_Mutation_p.D1208N	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1256										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCATTTAAATCCATCTCGGGG	0.458000													11	30					0	0	0.013537	0	0
CD300C	10871	broad.mit.edu	37	17	72540764	72540764	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:72540764C>T	ENST00000330793.1	-	2	744	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	128	Ig-like V-type.|Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACACGGACACCTCAACCTCGA	0.577000													14	25					0	0	0.004990	0	0
PRDM9	56979	broad.mit.edu	37	5	23518019	23518019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:23518019G>A	ENST00000296682.3	+	5	513	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	111					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTAAGAGTGGAACAGCGTAA	0.408000										HNSCC(3;0.000094)			66	97					0	0	0.014410	0	0
LAMC2	3918	broad.mit.edu	37	1	183201804	183201804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:183201804G>A	ENST00000264144.4	+	14	2097	c.2032G>A	c.(2032-2034)Ggt>Agt	p.G678S	LAMC2_ENST00000493293.1_Missense_Mutation_p.G678S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	678	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGATCCCTTGGTCTCCAGTT	0.527000													36	55					0	0	0.004878	0	0
FSHR	2492	broad.mit.edu	37	2	49190942	49190942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:49190942C>T	ENST00000406846.2	-	10	1137	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	FSHR_ENST00000346173.3_Missense_Mutation_p.E278K|FSHR_ENST00000304421.4_Missense_Mutation_p.E314K|FSHR_ENST00000541117.1_Missense_Mutation_p.E76K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	340					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.E340K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAACCACTTCATTGCATAAG	0.473000									Gonadal Dysgenesis, 46 XX				70	49					0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103243900	103243900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:103243900C>T	ENST00000424685.2	-	24	3343	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	RELN_ENST00000343529.5_Missense_Mutation_p.E1062K|RELN_ENST00000428762.1_Missense_Mutation_p.E1062K			P78509	RELN_HUMAN	reelin	1062					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGGCAGCTTCTGGGTGGCAT	0.522000													34	38					0	0	0.005524	0	0
OR4X2	119764	broad.mit.edu	37	11	48267327	48267327	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:48267327G>A	ENST00000302329.3	+	1	720	c.672G>A	c.(670-672)ggG>ggA	p.G224G		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTCTGAAGGGTGGTGCAAAG	0.527000													15	11					0	0	0.003163	0	0
TMEM109	79073	broad.mit.edu	37	11	60687275	60687275	+	Missense_Mutation	SNP	G	G	A	rs2301726	byFrequency	TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:60687275G>A	ENST00000227525.3	+	2	513	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R37Q	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	37						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CAGTCCCGTCGAGACTTTGCA	0.547000													26	35					0	0	0.006320	0	0
OR6T1	219874	broad.mit.edu	37	11	123814011	123814011	+	Missense_Mutation	SNP	G	G	A	rs140103246		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr11:123814011G>A	ENST00000321252.2	-	1	569	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAACTGTCACGAAAGAAGTGG	0.572000													27	22					0	0	0.006320	0	0
NXPH2	11249	broad.mit.edu	37	2	139428555	139428555	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:139428555G>A	ENST00000272641.3	-	2	838	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	244	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCTTTTGCACGAGTTTATAAT	0.448000													30	13					0	0	0.012213	0	0
OR10J1	26476	broad.mit.edu	37	1	159409847	159409847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:159409847G>A	ENST00000423932.3	+	1	336	c.299G>A	c.(298-300)aGc>aAc	p.S100N	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	100					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTAGGTATGAGCCAGCCCATA	0.483000													30	23					0	0	0.007291	0	0
CCDC62	84660	broad.mit.edu	37	12	123286030	123286030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123286030G>A	ENST00000253079.6	+	9	1681	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	CCDC62_ENST00000392440.2_Missense_Mutation_p.G207E|CCDC62_ENST00000392441.4_Missense_Mutation_p.G446E|CCDC62_ENST00000537566.1_Missense_Mutation_p.G207E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	446						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CAGAACGAAGGAAAACAACCC	0.443000													9	32					0	0	0.006214	0	0
NUBP1	4682	broad.mit.edu	37	16	10855241	10855241	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:10855241C>T	ENST00000283027.5	+	8	646	c.627C>T	c.(625-627)gtC>gtT	p.V209V	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.V198V|TVP23A_ENST00000572980.1_5'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	209					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TCCAGGATGTCCGGAAAGAAA	0.537000													15	35					0	0	0.004007	0	0
TNR	7143	broad.mit.edu	37	1	175355430	175355430	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:175355430G>A	ENST00000367674.1	-	8	2223	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	TNR_ENST00000263525.2_Silent_p.D505D	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	505	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCGTGGGGCCGTCAATGACTG	0.468000													13	33					0	0	0.001855	0	0
OR4F15	390649	broad.mit.edu	37	15	102358510	102358510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:102358510G>A	ENST00000332238.4	+	1	145	c.121G>A	c.(121-123)Gga>Aga	p.G41R		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GAGCATGATGGGAAACCTTGT	0.418000													64	79					0	0	0.014410	0	0
CYP20A1	57404	broad.mit.edu	37	2	204161618	204161618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:204161618C>T	ENST00000356079.4	+	13	1499	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.S467L	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	459						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATCACTGTCTCAAAGAGATAT	0.318000													21	18					0	0	0.008871	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308114	46308114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:46308114C>T	ENST00000221538.3	-	3	1191	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	RSPH6A_ENST00000600188.1_Missense_Mutation_p.G86E|RSPH6A_ENST00000597055.1_Missense_Mutation_p.G350E	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	350						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCGTTTGATTCCCAGGATCTT	0.622000													14	36					0	0	0.004990	0	0
OR2G2	81470	broad.mit.edu	37	1	247752549	247752549	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:247752549G>A	ENST00000320065.1	+	1	888	c.888G>A	c.(886-888)agG>agA	p.R296R	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACCTTGAGGATCAAGGAGG	0.403000													48	132					0	0	0.014410	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837650	124837650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:124837650C>T	ENST00000423114.2	-	8	961	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	SLC12A8_ENST00000314584.7_Missense_Mutation_p.R45Q|SLC12A8_ENST00000469902.1_Missense_Mutation_p.R292Q|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000393469.4_Missense_Mutation_p.R292Q|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R93Q			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	292					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AAGGGCCTCTCGAGTGCAGAT	0.552000													10	16					0	0	0.008291	0	0
RALBP1	10928	broad.mit.edu	37	18	9516990	9516990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr18:9516990C>T	ENST00000019317.4	+	3	615	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RALBP1_ENST00000383432.3_Missense_Mutation_p.P131L			Q15311	RBP1_HUMAN	ralA binding protein 1	131					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						aaagagaaacccaaagaagaa	0.343000													15	12					0	0	0.002450	0	0
KRT78	196374	broad.mit.edu	37	12	53237990	53237990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:53237990G>A	ENST00000359499.4	-	6	615	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	KRT78_ENST00000304620.4_Nonsense_Mutation_p.Q312*			Q8N1N4	K2C78_HUMAN	keratin 78	312	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCAGACACCTGAAGTTCCTGG	0.517000													35	85					0	0	0.004289	0	0
MYH8	4626	broad.mit.edu	37	17	10322026	10322026	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10322026C>T	ENST00000403437.2	-	5	541	c.447G>A	c.(445-447)aaG>aaA	p.K149K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	149	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCGCTTTTTGCCTC	0.542000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				89	104					0	0	0.014410	0	0
SYNE1	23345	broad.mit.edu	37	6	152464812	152464812	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:152464812G>A	ENST00000367255.5	-	138	25666	c.25065C>T	c.(25063-25065)atC>atT	p.I8355I	SYNE1_ENST00000265368.4_Silent_p.I8355I|SYNE1_ENST00000448038.1_Silent_p.I8307I|SYNE1_ENST00000423061.1_Silent_p.I8307I|SYNE1_ENST00000539504.1_Silent_p.I510I|SYNE1_ENST00000341594.5_Silent_p.I7967I|SYNE1_ENST00000356820.4_Silent_p.I2879I|SYNE1_ENST00000354674.4_Silent_p.I533I|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8355					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCGAATGATATTTTCGG	0.537000										HNSCC(10;0.0054)			29	86					0	0	0.009535	0	0
FCGBP	8857	broad.mit.edu	37	19	40408800	40408800	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:40408800T>A	ENST00000221347.6	-	8	4046	c.4039A>T	c.(4039-4041)Atc>Ttc	p.I1347F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1347	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGGCACGGATCTGGCCGTTG	0.597000													18	8					0	0	0.006122	0	0
BZRAP1	9256	broad.mit.edu	37	17	56399757	56399757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:56399757G>A	ENST00000355701.3	-	10	2204	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A385V|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A445V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	445						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCGCTGGGCCACCTCCCG	0.602000													33	38					0	0	0.004878	0	0
DENND4A	10260	broad.mit.edu	37	15	65983207	65983207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:65983207G>A	ENST00000443035.3	-	23	3937	c.3722C>T	c.(3721-3723)cCa>cTa	p.P1241L	DENND4A_ENST00000431932.2_Missense_Mutation_p.P1198L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CCTAGCAGATGGTGTTGAAAT	0.418000													11	11					0	0	0.010729	0	0
ABCB9	23457	broad.mit.edu	37	12	123434428	123434428	+	Missense_Mutation	SNP	G	G	A	rs151235593		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:123434428G>A	ENST00000542678.1	-	4	3592	c.754C>T	c.(754-756)Ctc>Ttc	p.L252F	ABCB9_ENST00000346530.5_Missense_Mutation_p.L252F|ABCB9_ENST00000442833.2_Missense_Mutation_p.L252F|ABCB9_ENST00000442028.2_Missense_Mutation_p.L252F|ABCB9_ENST00000344275.7_Missense_Mutation_p.L252F|ABCB9_ENST00000280560.8_Missense_Mutation_p.L252F|ABCB9_ENST00000540285.1_Missense_Mutation_p.L252F|ABCB9_ENST00000392439.3_Missense_Mutation_p.L252F			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	252	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCAAATATGAGGGTAAAAATG	0.502000													37	85					0	0	0.010771	0	0
MRPL9	65005	broad.mit.edu	37	1	151734008	151734008	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:151734008G>A	ENST00000368830.3	-	5	591	c.507C>T	c.(505-507)agC>agT	p.S169S	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Intron	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	169					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCGACAGCTTTTTAGAA	0.448000													41	57					0	0	0.007835	0	0
ADAM7	8756	broad.mit.edu	37	8	24365008	24365008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:24365008G>A	ENST00000175238.6	+	21	2307	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Intron|ADAM7_ENST00000380789.1_Missense_Mutation_p.D764N|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	742					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D742Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAAGTAAAGATTCAAGAGG	0.398000													23	17					0	0	0.003954	0	0
IKBIP	121457	broad.mit.edu	37	12	99007571	99007571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr12:99007571G>A	ENST00000342502.2	-	3	1256	c.845C>T	c.(844-846)cCa>cTa	p.P282L	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.P176L	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	282					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATACACCTTTGGTTTTAGATC	0.363000													45	40					0	0	0.011902	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170023	20170023	+	RNA	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:20170023G>A	ENST00000338912.5	-	0	248																											CTCTGCCCTGGAACTTCTGTG	0.547000													92	114					0	0	0.014410	0	0
MYO1B	4430	broad.mit.edu	37	2	192248063	192248063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:192248063G>A	ENST00000392318.3	+	15	1595	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	MYO1B_ENST00000339514.4_Missense_Mutation_p.E450K|MYO1B_ENST00000304164.4_Missense_Mutation_p.E450K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E450K|MYO1B_ENST00000496992.1_3'UTR	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	450	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGACCTAATAGAAAATGTGAG	0.313000													14	11					0	0	0.002450	0	0
OR2M5	127059	broad.mit.edu	37	1	248308485	248308485	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:248308485C>T	ENST00000366476.1	+	1	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGACTTCATCCTCCTGG	0.443000													32	197					0	0	0.003271	0	0
RBM6	10180	broad.mit.edu	37	3	50103775	50103775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:50103775C>T	ENST00000443081.1	+	17	3306	c.2387C>T	c.(2386-2388)cCc>cTc	p.P796L	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.P928L|RBM6_ENST00000442092.1_Missense_Mutation_p.P406L|RBM6_ENST00000539992.1_Missense_Mutation_p.P270L|RBM6_ENST00000422955.1_Missense_Mutation_p.P406L			P78332	RBM6_HUMAN	RNA binding motif protein 6	928				T -> S (in Ref. 1; AAC05826).	RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCCCCACAGCCCCGCACAGCA	0.522000													16	48					0	0	0.004007	0	0
SCN11A	11280	broad.mit.edu	37	3	38936385	38936385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:38936385C>T	ENST00000450244.1	-	15	2672	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E	SCN11A_ENST00000456224.3_Missense_Mutation_p.G825E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G825E|SCN11A_ENST00000302328.3_Missense_Mutation_p.G825E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	825					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGGCCTCTCCTTCTAAGTT	0.463000													9	20					0	0	0.006214	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401670	1401670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:1401670C>T	ENST00000381524.3	+	3	260	c.74C>T	c.(73-75)tCg>tTg	p.S25L	CSF2RA_ENST00000432318.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.S25L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.S25L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.S25L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.S25L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	25						extracellular region|integral to plasma membrane	cytokine receptor activity	p.S25L(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGAGAAATCGGGTAAGTAT	0.532000													137	107					0	0	0.014410	0	0
MYH2	4620	broad.mit.edu	37	17	10436682	10436682	+	Silent	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:10436682C>T	ENST00000245503.5	-	21	2745	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.L787L|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	787	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGCTGGGCCAGCTTGTCAT	0.463000													44	54					0	0	0.013114	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863847	192863847	+	Silent	SNP	G	G	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr2:192863847G>A	ENST00000392314.1	-	6	1015	c.624C>T	c.(622-624)atC>atT	p.I208I	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000272771.5_Silent_p.I208I			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	208	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATGCTTCTTTGATTTGGCATG	0.363000													14	58					0	0	0.002450	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755085	140755085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:140755085C>T	ENST00000517434.1	+	1	1435	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTGGACCCTGACGTGGA	0.582000													45	81					0	0	0.011902	0	0
LPPR4	9890	broad.mit.edu	37	1	99767390	99767390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:99767390T>A	ENST00000370185.3	+	6	1400	c.903T>A	c.(901-903)taT>taA	p.Y301*	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.Y143*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		301							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TAACTCAGTATAAGAACCACC	0.373000													20	14					0	0	0.012319	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79747489	79747489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:79747489C>T	ENST00000338008.5	+	10	3748	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.P1190S|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.P1190S	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1190					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAGGTTTTTCCTATGCGTTT	0.323000													24	34					0	0	0.009535	0	0
COL16A1	1307	broad.mit.edu	37	1	32159756	32159757	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:32159756_32159757insTG	ENST00000373672.3	-	12	1512_1513	c.996_997insCA	c.(994-999)ccctggfs	p.W333fs	COL16A1_ENST00000271069.6_Intron|COL16A1_ENST00000373668.3_Frame_Shift_Ins_p.W333fs	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	333	Nonhelical region 10 (NC10).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTGGGGCCAGAGGGAGCAAGTG	0.554													12	20	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152329899	152329907	+	In_Frame_Del	DEL	ATCCTCTTC	ATCCTCTTC	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr1:152329899_152329907delATCCTCTTC	ENST00000388718.5	-	3	427_435	c.355_363delGAAGAGGAT	c.(355-363)del	p.EED119del	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	119							calcium ion binding|structural molecule activity	p.E119Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGTGTATCCTCTTCATCCTCTTCT	0.459													48	161	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130887663	130887692	+	Splice_Site	DEL	AATCTCTTTAGGAAAAAACACATTTAAAAG	AATCTCTTTAGGAAAAAACACATTTAAAAG	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:130887663_130887692delAATCTCTTTAGGAAAAAACACATTTAAAAG	ENST00000383366.4	+	13	1469_1488	c.1176_splice	c.e13-1	p.H392_splice	NEK11_ENST00000511262.1_Splice_Site_p.H392_splice|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000356918.4_Splice_Site_p.H392_splice|NEK11_ENST00000507910.1_Splice_Site_p.H392_splice|NEK11_ENST00000508196.1_Splice_Site_p.H392_splice|NEK11_ENST00000429253.2_Splice_Site_p.H392_splice|NEK11_ENST00000510688.1_Splice_Site_p.H392_splice|NEK11_ENST00000510769.1_Splice_Site_p.H287_splice	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	392					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.G399*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACTTTGTCATAATCTCTTTAGGAAAAAACACATTTAAAAGGAATGGAAGA	0.422													5	4	---	---	---	---					
BDH1	622	broad.mit.edu	37	3	197238769	197238769	+	Frame_Shift_Del	DEL	G	G	-	rs58455529		TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr3:197238769delG	ENST00000392379.1	-	8	1430	c.1029delC	c.(1027-1029)cgfs	p.R343fs	BDH1_ENST00000441275.1_Frame_Shift_Del_p.R256fs|BDH1_ENST00000358186.2_Frame_Shift_Del_p.R343fs|BDH1_ENST00000392378.2_Frame_Shift_Del_p.R343fs	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	343					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGACTCTTCAGCGGATGTAGA	0.557													26	36	---	---	---	---					
ZCCHC9	84240	broad.mit.edu	37	5	80608420	80608420	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr5:80608420delT	ENST00000254037.2	+	5	3910	c.755delT	c.(754-756)atfs	p.I252fs	ZCCHC9_ENST00000380199.5_Frame_Shift_Del_p.I252fs|ZCCHC9_ENST00000438268.2_Frame_Shift_Del_p.I252fs|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Frame_Shift_Del_p.I252fs			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	252							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TATGAAGAAATTTTGGATGTA	0.353													12	24	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													4	8	---	---	---	---					
TRBV7-3	28595	broad.mit.edu	37	7	142247456	142247457	+	RNA	DEL	CA	CA	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr7:142247456_142247457delCA	ENST00000390361.3	-	0	99																											TTGTACTCATcacacacacaca	0.545													7	168	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77618383	77618383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:77618383delC	ENST00000521891.2	+	2	2508	c.2060delC	c.(2059-2061)gcfs	p.A687fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.A687fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.A687fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.A687fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	687						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)			CCCAGGCTTGCCCGGGGTGAG	0.507										HNSCC(33;0.089)			19	30	---	---	---	---					
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gag>ga	p.EE50del	TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body		p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458													9	628	---	---	---	---					
FUT11	170384	broad.mit.edu	37	10	75532131	75532131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr10:75532131delG	ENST00000372841.3	+	1	83	c.40delG	c.(40-42)ggfs	p.G14fs	FUT11_ENST00000394790.1_Frame_Shift_Del_p.G14fs|AC022400.2_ENST00000595757.1_Frame_Shift_Del_p.P83fs	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	14					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GGTCCTTCTAGGGGTGCTCAG	0.711													8	2	---	---	---	---					
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr15:55631503delT	ENST00000164305.5	+	7	1124	c.833delT	c.(832-834)atfs	p.I278fs	PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284													3	5	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24581176	24581176	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr16:24581176delT	ENST00000319715.4	+	17	3597	c.3165delT	c.(3163-3165)tcfs	p.S1055fs	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.S1021fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1055	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTCCTCGATCTGAACCTCCAA	0.403													13	34	---	---	---	---					
SGSM2	9905	broad.mit.edu	37	17	2268598	2268602	+	Frame_Shift_Del	DEL	GTTCC	GTTCC	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr17:2268598_2268602delGTTCC	ENST00000268989.3	+	11	1428_1432	c.1251_1255delGTTCC	c.(1249-1257)gtggfs	p.VFR417fs	SGSM2_ENST00000574563.1_Frame_Shift_Del_p.VFR417fs|SGSM2_ENST00000426855.2_Frame_Shift_Del_p.VFR417fs	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	417						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCGACTATGTGTTCCGGATCATCTA	0.629													4	8	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398852	8398852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr19:8398852delC	ENST00000330915.3	-	5	1641	c.1576delG	c.(1576-1578)acfs	p.D526fs	KANK3_ENST00000593649.1_Frame_Shift_Del_p.D526fs	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	526										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCCCGGATGTCCCCGCCGCTG	0.736													2	4	---	---	---	---					
IL10RB	3588	broad.mit.edu	37	21	34668489	34668489	+	Splice_Site	DEL	T	T	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chr21:34668489delT	ENST00000290200.2	+	7	913	c.804_splice	c.e7-1	p.F269_splice		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CCCTCCACAGTTTTTGGGCCA	0.378													8	291	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123179140	123179140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2GM-06B-11D-A196-08	TCGA-EE-A2GM-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b749f4-3ff6-466e-b033-6af815160618	0baec591-b2b2-44d2-b233-a74efec5c6cb	g.chrX:123179140delA	ENST00000371160.1	+	8	879	c.589delA	c.(589-591)tgfs	p.M197fs	STAG2_ENST00000354548.5_Frame_Shift_Del_p.M128fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.M197fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.M197fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.M197fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.M197fs|STAG2_ENST00000469481.1_Intron			Q8N3U4	STAG2_HUMAN	stromal antigen 2	197					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAGTATATGATGGATACAGT	0.393													122	89	---	---	---	---