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
PCDHGA7	56108	broad.mit.edu	37	5	140764876	140764876	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764876C>T	ENST00000518325.1	+	1	2410	c.2410C>T	c.(2410-2412)Ctg>Ttg	p.L804L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGAAAACCTGCCAAGTAT	0.383000													14	24					0	0	0.001855	0	0
RGS9	8787	broad.mit.edu	37	17	63157022	63157022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:63157022G>A	ENST00000449996.3	+	6	490	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RGS9_ENST00000262406.9_Missense_Mutation_p.E140K|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.E140K	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	140					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGAAGAATATGAAAAGGTATG	0.368000													12	61					0	0	0.002450	0	0
ASXL2	55252	broad.mit.edu	37	2	25972977	25972977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:25972977G>A	ENST00000435504.4	-	12	1741	c.1448C>T	c.(1447-1449)cCa>cTa	p.P483L	ASXL2_ENST00000272341.4_Missense_Mutation_p.P223L|ASXL2_ENST00000404843.1_Missense_Mutation_p.P223L|ASXL2_ENST00000336112.4_Missense_Mutation_p.P455L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCATCCTTTGGGCACTTGAT	0.473000													65	125					0	0	0.003610	0	0
NLRP4	147945	broad.mit.edu	37	19	56369100	56369100	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56369100A>T	ENST00000301295.6	+	3	763	c.341A>T	c.(340-342)aAg>aTg	p.K114M	NLRP4_ENST00000587891.1_Missense_Mutation_p.K39M|NLRP4_ENST00000346986.5_Missense_Mutation_p.K114M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	114							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGTCCAGCAAGTCTGTCACT	0.473000													8	75					0	0	0.006214	0	0
FAM134C	162427	broad.mit.edu	37	17	40733942	40733942	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40733942G>T	ENST00000309428.5	-	9	1349	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L	FAM134C_ENST00000585894.1_Missense_Mutation_p.F333L|FAM134C_ENST00000543197.1_Missense_Mutation_p.F235L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	430						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGGACCGGAGGAAGCCTCTCG	0.602000													10	25					2.17888e-05	3.39499e-05	0.006214	1	0
PYDC2	152138	broad.mit.edu	37	3	191178966	191178966	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:191178966A>T	ENST00000518817.1	+	1	15	c.15A>T	c.(13-15)gcA>gcT	p.A5A		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	5	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CATCTTCTGCAGAGCTGGACT	0.468000													15	62					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9083542	9083542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9083542G>A	ENST00000397910.4	-	1	8476	c.8273C>T	c.(8272-8274)tCc>tTc	p.S2758F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2758	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						GAATACAAGGGAACCAGTAGT	0.488000													32	37					0	0	0.002836	0	0
FMNL2	114793	broad.mit.edu	37	2	153417457	153417457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:153417457G>A	ENST00000288670.9	+	6	871	c.504G>A	c.(502-504)tgG>tgA	p.W168*		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	168	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAAGCCCTGGAGTAGGTCCA	0.498000													4	13					0	0	0.000248	0	0
LILRA2	11027	broad.mit.edu	37	19	55086332	55086332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55086332C>T	ENST00000251377.3	+	5	620	c.487C>T	c.(487-489)Cca>Tca	p.P163S	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P163S|LILRA2_ENST00000391737.1_Missense_Mutation_p.P151S|LILRA2_ENST00000251376.3_Missense_Mutation_p.P163S|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGATGAACACCCACAACGCCT	0.592000													27	58					0	0	0.007291	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925194	4925194	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:4925194A>C	ENST00000333703.4	+	4	810	c.297A>C	c.(295-297)gaA>gaC	p.E99D	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.E110D|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.E110D	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGAATTGAAGAGGATACTG	0.453000													9	33					0	0	0.006214	0	0
HM13	81502	broad.mit.edu	37	20	30142581	30142581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:30142581C>T	ENST00000335574.5	+	8	881	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	HM13_ENST00000376127.3_Missense_Mutation_p.L211F|HM13_ENST00000340852.5_Missense_Mutation_p.L253F|HM13_ENST00000398174.3_Missense_Mutation_p.L253F|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	253					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGAGAAAGGCCTCGAAGCAAA	0.517000													9	51					0	0	0.000978	0	0
TRIM48	79097	broad.mit.edu	37	11	55032679	55032679	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55032679G>A	ENST00000417545.2	+	2	434	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	100						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGGAGACAAAGAAGATGTTCT	0.527000													13	38					0	0	0.001855	0	0
NFX1	4799	broad.mit.edu	37	9	33295248	33295248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:33295248C>T	ENST00000379540.3	+	2	918	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	NFX1_ENST00000379521.4_Missense_Mutation_p.L286F|NFX1_ENST00000318524.6_Missense_Mutation_p.L286F	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	286					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAGGATGACCTCAATGAAAG	0.512000													11	46					0	0	0.001368	0	0
LOC286238	286238	broad.mit.edu	37	9	91262548	91262548	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:91262548C>T	ENST00000418343.2	-	0	203																											CACTGCTATTCCTTGCTGTCT	0.423000													32	38					0	0	0.001786	0	0
F8	2157	broad.mit.edu	37	X	154159078	154159078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:154159078C>T	ENST00000360256.4	-	14	3187	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	996	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGAGCTCTTTTCCCTTT	0.338000													43	16					0	0	0.002522	0	0
GRM8	2918	broad.mit.edu	37	7	126746637	126746637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:126746637C>T	ENST00000339582.2	-	3	1448	c.640G>A	c.(640-642)Gga>Aga	p.G214R	GRM8_ENST00000444921.2_Missense_Mutation_p.G214R|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.G214R|GRM8_ENST00000358373.3_Missense_Mutation_p.G214R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	214					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)	TAATTCCATCCCAGTGCTGTC	0.512000										HNSCC(24;0.065)			22	30					0	0	0.002299	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819684	74819684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:74819684C>T	ENST00000370895.1	+	13	1386	c.1351C>T	c.(1351-1353)Cac>Tac	p.H451Y	TNNI3K_ENST00000326637.3_Missense_Mutation_p.H350Y|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.H451Y|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.H451Y|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H451Y			Q59H18	TNI3K_HUMAN		350						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGCTTGCTACCACGGTCACAT	0.408000													18	45					0	0	0.007413	0	0
KRT82	3888	broad.mit.edu	37	12	52788775	52788775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52788775G>A	ENST00000257974.2	-	9	1603	c.1526C>T	c.(1525-1527)cCc>cTc	p.P509L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	509	Tail.					keratin filament	protein binding|structural constituent of epidermis	p.P509L(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTTGTGGCTGGGGGAGCTGCC	0.622000													16	30					0	0	0.004990	0	0
CD86	942	broad.mit.edu	37	3	121825191	121825191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121825191G>A	ENST00000330540.2	+	4	663	c.547G>A	c.(547-549)Gat>Aat	p.D183N	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Missense_Mutation_p.D71N|CD86_ENST00000393627.2_Missense_Mutation_p.D177N|CD86_ENST00000469710.1_Missense_Mutation_p.D101N	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	183	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATCGAGTATGATGGTGTTAT	0.383000													42	53					0	0	0.003214	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57866353	57866353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57866353G>A	ENST00000393797.2	-	21	2605	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.P715S|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.P734S|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.P531S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	734					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTGCCCTGGGTAGAGAGCA	0.542000													15	30					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179473173	179473173	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179473173C>T	ENST00000589042.1	-	275	52661	c.52437G>A	c.(52435-52437)gtG>gtA	p.V17479V	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.V15838V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V8414V|TTN_ENST00000342175.6_Silent_p.V8606V|TTN_ENST00000342992.6_Silent_p.V14911V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.V8539V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15838	Ig-like 103.						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)			TAACATCTTCCACAATGGGCT	0.363000													5	13					0	0	0.001984	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486386	37486386	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37486386G>A	ENST00000374660.1	+	35	2982	c.2883G>A	c.(2881-2883)aaG>aaA	p.K961K	ANKRD30A_ENST00000602533.1_Silent_p.K842K|ANKRD30A_ENST00000361713.1_Silent_p.K842K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1010						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGAATTGAAGAATGAACAAA	0.338000													24	69					0	0	0.005443	0	0
AOC3	8639	broad.mit.edu	37	17	41004751	41004751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41004751C>T	ENST00000308423.2	+	1	1551	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	464					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCGTCAGATCTATGTCCACC	0.547000													30	35					0	0	0.001512	0	0
MSLN	10232	broad.mit.edu	37	16	817004	817004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:817004C>T	ENST00000566549.1	+	14	1910	c.1493C>T	c.(1492-1494)tCc>tTc	p.S498F	MSLN_ENST00000382862.3_Missense_Mutation_p.S506F|MSLN_ENST00000563941.1_Missense_Mutation_p.S498F|MSLN_ENST00000545450.2_Missense_Mutation_p.S498F			Q13421	MSLN_HUMAN	mesothelin	506					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				AAGATCCAGTCCTTCCTGGGT	0.632000													16	24					0	0	0.004990	0	0
OR8H2	390151	broad.mit.edu	37	11	55873324	55873324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55873324G>A	ENST00000313503.1	+	1	806	c.806G>A	c.(805-807)gGa>gAa	p.G269E		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TATTCCTTGGGAAGAGATCAA	0.363000										HNSCC(53;0.14)			29	85					0	0	0.002096	0	0
PXDN	7837	broad.mit.edu	37	2	1687478	1687478	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1687478A>C	ENST00000252804.4	-	6	560	c.510T>G	c.(508-510)atT>atG	p.I170M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	170					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTAAATGTGTAATCCGGTTGT	0.299000													15	31					0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13901467	13901467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13901467G>A	ENST00000265104.4	-	14	2050	c.1946C>T	c.(1945-1947)gCt>gTt	p.A649V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	649	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)					GCTTAGCACAGCTGGGTGCTG	0.557000									Kartagener syndrome				8	29					0	0	0.004482	0	0
POLR3A	11128	broad.mit.edu	37	10	79782128	79782128	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79782128G>A	ENST00000372371.3	-	6	797	c.660C>T	c.(658-660)ccC>ccT	p.P220P		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	220					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAACTACTAAGGGATTCAAGT	0.393000													16	44					0	0	0.001882	0	0
CD163	9332	broad.mit.edu	37	12	7640255	7640255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7640255G>A	ENST00000359156.4	-	8	1952	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	CD163_ENST00000432237.2_Missense_Mutation_p.R584C|CD163_ENST00000396620.3_Missense_Mutation_p.R617C|CD163_ENST00000541972.1_Missense_Mutation_p.R572C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	584	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R584C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCACCAAGCGAATTTCTGTG	0.488000													27	46					0	0	0.007291	0	0
GJB4	127534	broad.mit.edu	37	1	35227594	35227594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35227594G>A	ENST00000339480.1	+	2	1109	c.739G>A	c.(739-741)Gat>Aat	p.D247N	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	247					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCACCCTGAGGATGGGAACTC	0.617000													10	25					0	0	0.000673	0	0
CEP170B	283638	broad.mit.edu	37	14	105353067	105353067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105353067C>T	ENST00000453495.1	+	12	2722	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	CEP170B_ENST00000414716.3_Missense_Mutation_p.P831S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P761S|CEP170B_ENST00000556508.1_Missense_Mutation_p.P761S					centrosomal protein 170B																		GCCCAGCCCCCCAGCACGGGA	0.637000													7	21					0	0	0.001984	0	0
PDE11A	50940	broad.mit.edu	37	2	178494270	178494270	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178494270C>T	ENST00000286063.5	-	20	2984	c.2667G>A	c.(2665-2667)gtG>gtA	p.V889V	PDE11A_ENST00000449286.2_Silent_p.V531V|PDE11A_ENST00000358450.4_Silent_p.V639V|PDE11A_ENST00000389683.3_Silent_p.V445V|PDE11A_ENST00000450799.2_Silent_p.V80V|PDE11A_ENST00000409504.1_Silent_p.V531V	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	889	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.V889V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCTTCAGTTTCACGTTGACCT	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				39	80					0	0	0.001951	0	0
TRIM41	90933	broad.mit.edu	37	5	180659705	180659705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:180659705G>A	ENST00000315073.5	+	3	1666	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	TRIM41_ENST00000351937.5_Missense_Mutation_p.R319Q	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	319						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTTTGGGCGACTGACACGG	0.612000													14	21					0	0	0.006122	0	0
MYL6B	140465	broad.mit.edu	37	12	56548957	56548957	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56548957G>A	ENST00000553066.1	+	4	743	c.321G>A	c.(319-321)aaG>aaA	p.K107K	MYL6B_ENST00000552568.1_Silent_p.K107K|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000207437.5_Silent_p.K107K|MYL6B_ENST00000550443.1_Silent_p.K107K			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	107					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGGTGCTCAAGGTCCTGGGGA	0.537000													37	60					0	0	0.004878	0	0
HCAR2	338442	broad.mit.edu	37	12	123187473	123187473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123187473C>T	ENST00000328880.5	-	1	417	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	120					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	ACCGCCACCACCGTGAGGAAG	0.572000													27	47					0	0	0.004656	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872745	16872745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:16872745G>A	ENST00000355661.3	-	8	699	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S230F|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S230F|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	230	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TACCTTAAAGGAATATTTGCG	0.507000													22	53					0	0	0.003330	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153271646	153271646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153271646G>A	ENST00000290722.1	-	6	842	c.790C>T	c.(790-792)Cac>Tac	p.H264Y		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	264	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCATAAGTGTGAGAGCCTTGG	0.522000													6	24					0	0	0.001984	0	0
HMCN1	83872	broad.mit.edu	37	1	186113689	186113689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186113689C>T	ENST00000271588.4	+	91	14349	c.14120C>T	c.(14119-14121)gCc>gTc	p.A4707V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A4707V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4707	TSP type-1 4.				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						GCGACTTGGGCCAGTTGGAGT	0.512000													51	101					0	0	0.003610	0	0
KLHL38	340359	broad.mit.edu	37	8	124663913	124663913	+	Silent	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:124663913G>C	ENST00000325995.7	-	1	1277	c.1254C>G	c.(1252-1254)ccC>ccG	p.P418P	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	418										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCACCCCCACGGGCATGCTGG	0.557000													11	28					0	0	0.000673	0	0
RTL1	388015	broad.mit.edu	37	14	101349378	101349378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101349378C>T	ENST00000534062.1	-	1	1806	c.1748G>A	c.(1747-1749)gGa>gAa	p.G583E	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	583										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ATCATCGGATCCGTCTGAGCT	0.567000													25	43					0	0	0.002445	0	0
KCNA5	3741	broad.mit.edu	37	12	5154998	5154998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:5154998C>T	ENST00000252321.3	+	1	1914	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	562						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGCAGGGGATCCTTCTGCAAG	0.642000													13	26					0	0	0.001855	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656841	31656841	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31656841G>A	ENST00000375842.4	-	13	1466	c.480C>T	c.(478-480)tcC>tcT	p.S160S	ABHD16A_ENST00000395952.3_Silent_p.S379S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Silent_p.S346S			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	379						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGTCATCAAAGGAGGCATCCA	0.587000													60	136					0	0	0.003610	0	0
XPO4	64328	broad.mit.edu	37	13	21382648	21382648	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:21382648C>T	ENST00000400602.2	-	12	1601	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	XPO4_ENST00000255305.6_Silent_p.P522P	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	522					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCTTGAACCCGGTGAAGCAA	0.363000													19	35					0	0	0.006122	0	0
DMAP1	55929	broad.mit.edu	37	1	44680553	44680553	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44680553T>G	ENST00000372289.2	+	3	639	c.376T>G	c.(376-378)Ttt>Gtt	p.F126V	DMAP1_ENST00000361745.6_Missense_Mutation_p.F126V|DMAP1_ENST00000315913.5_Missense_Mutation_p.F126V|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	126					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGACTACCCCTTTGCCAGGTT	0.572000													9	35					0	0	0.000673	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161257	151161257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:151161257C>T	ENST00000367328.1	+	17	3695	c.3383C>T	c.(3382-3384)tCt>tTt	p.S1128F	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S1128F	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1128					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCTTGCTCTGTGCCTTCT	0.502000													17	51					0	0	0.007413	0	0
GRIA1	2890	broad.mit.edu	37	5	153149806	153149806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153149806G>A	ENST00000285900.5	+	13	2444	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	GRIA1_ENST00000448073.4_Missense_Mutation_p.E711K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E632K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E711K|GRIA1_ENST00000340592.5_Missense_Mutation_p.E701K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E621K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	701					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)	GCGGACCACAGAGGAGGGGAT	0.478000													12	46					0	0	0.001368	0	0
SPHKAP	80309	broad.mit.edu	37	2	228855764	228855764	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228855764C>T	ENST00000392056.3	-	11	4957	c.4911G>A	c.(4909-4911)ggG>ggA	p.G1637G	SPHKAP_ENST00000344657.5_Silent_p.G1608G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1637						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)		TGGTGGGAATCCCCAGTTCAG	0.483000													11	40					0	0	0.000978	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762527	130762527	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762527G>A	ENST00000392429.1	+	2	3338	c.960G>A	c.(958-960)agG>agA	p.R320R	TMEM200A_ENST00000296978.3_Silent_p.R320R|TMEM200A_ENST00000545622.1_Silent_p.R320R	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	320						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTAGGTCAAGGAATTTGTCAA	0.428000													20	32					0	0	0.001882	0	0
CUZD1	50624	broad.mit.edu	37	10	124594230	124594230	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124594230G>A	ENST00000368904.1	-	9	2323	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	CUZD1_ENST00000392790.1_Silent_p.I458I|CUZD1_ENST00000545804.1_Silent_p.I458I			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	458	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACCCACTCTTGATTAGGTCGT	0.363000													14	31					0	0	0.004007	0	0
DNAH10	196385	broad.mit.edu	37	12	124257439	124257439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124257439C>T	ENST00000409039.3	+	4	297	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	91	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACCCCTCTTCCCGAGGAGTTC	0.458000													43	97					0	0	0.003610	0	0
AKAP6	9472	broad.mit.edu	37	14	33015222	33015222	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:33015222T>A	ENST00000280979.4	+	4	1533	c.1363T>A	c.(1363-1365)Tct>Act	p.S455T	AKAP6_ENST00000557354.1_Missense_Mutation_p.S455T|AKAP6_ENST00000557272.1_Missense_Mutation_p.S455T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	455					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCCAGCCAGTCTTATGAGTG	0.473000													75	194					0	0	0.003610	0	0
USP25	29761	broad.mit.edu	37	21	17250673	17250673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:17250673C>T	ENST00000285681.2	+	25	3512	c.3143C>T	c.(3142-3144)tCt>tTt	p.S1048F	USP25_ENST00000351097.5_Missense_Mutation_p.S411F|USP25_ENST00000285679.6_Missense_Mutation_p.S1016F|USP25_ENST00000400183.2_Missense_Mutation_p.S1086F			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1016					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTTGATTGTTCTATGGAGATT	0.388000													23	28					0	0	0.003954	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772646	140772646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772646G>A	ENST00000398604.2	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGGGCAGGATAGATCGG	0.562000													9	24					0	0	0.000673	0	0
MAGI1	9223	broad.mit.edu	37	3	65415681	65415681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65415681C>T	ENST00000330909.8	-	12	1680	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	MAGI1_ENST00000402939.2_Missense_Mutation_p.D561N|MAGI1_ENST00000497477.2_Missense_Mutation_p.D561N|MAGI1_ENST00000483466.1_Missense_Mutation_p.D561N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	561					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCATCTGGATCAAAAGGCAAT	0.463000													37	49					0	0	0.002522	0	0
TGM1	7051	broad.mit.edu	37	14	24729894	24729894	+	Silent	SNP	G	G	A	rs139811103	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24729894G>A	ENST00000206765.6	-	4	642	c.519C>T	c.(517-519)ccC>ccT	p.P173P	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	173					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCCACCTCGGGGTTGTTTC	0.612000													17	22					0	0	0.006122	0	0
FMN2	56776	broad.mit.edu	37	1	240371045	240371045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240371045C>T	ENST00000319653.9	+	5	3163	c.2933C>T	c.(2932-2934)cCa>cTa	p.P978L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	978	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACCTCCTCCACCCCCTCTA	0.716000													4	5					0	0	0.000248	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034826	107034826	+	RNA	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107034826C>A	ENST00000390626.2	-	0	312																											GGTGACCTGGCCTTGGAAGGA	0.597000													70	30					5.16434e-52	8.16179e-52	0.003610	1	0
NAA25	80018	broad.mit.edu	37	12	112481521	112481521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112481521C>T	ENST00000261745.4	-	18	2406	c.2158G>A	c.(2158-2160)Gta>Ata	p.V720I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	720						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CGGGAGGATACCCCATTCTCG	0.478000													32	77					0	0	0.003271	0	0
FBXO24	26261	broad.mit.edu	37	7	100190506	100190506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100190506C>T	ENST00000241071.6	+	5	981	c.659C>T	c.(658-660)gCc>gTc	p.A220V	FBXO24_ENST00000468962.1_Missense_Mutation_p.A208V|FBXO24_ENST00000465843.1_Missense_Mutation_p.A206V|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.A258V|FBXO24_ENST00000360609.2_Missense_Mutation_p.A206V|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	220						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCAGCCGGGCCTGTGACTGT	0.552000													14	27					0	0	0.004990	0	0
GYPA	2993	broad.mit.edu	37	4	145035844	145035844	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:145035844G>T	ENST00000360771.4	-	6	549	c.434C>A	c.(433-435)cCa>cAa	p.P145Q	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.P119Q|GYPA_ENST00000324022.10_Missense_Mutation_p.P112Q|GYPA_ENST00000503627.1_Missense_Mutation_p.P100Q|GYPA_ENST00000504786.1_Missense_Mutation_p.P113Q|GYPA_ENST00000512064.1_Missense_Mutation_p.P132Q|GYPA_ENST00000512789.1_Missense_Mutation_p.P80Q	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	145					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ACACCAACCTGGATTTTCTAT	0.373000													5	24					0.000602214	0.000935368	0.000602	1	0
GALNTL6	442117	broad.mit.edu	37	4	173930333	173930333	+	Missense_Mutation	SNP	G	G	A	rs146923140		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:173930333G>A	ENST00000506823.1	+	11	2033	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R442Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	459	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCACAGATCCGAAATGTGGCA	0.443000													25	68					0	0	0.007291	0	0
AFF4	27125	broad.mit.edu	37	5	132232703	132232703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132232703G>A	ENST00000265343.5	-	11	1998	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	AFF4_ENST00000378595.3_Missense_Mutation_p.S540L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	540					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCACTTTCTGATCCCTTTTG	0.502000													44	84					0	0	0.003610	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380283	98380283	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98380283G>A	ENST00000339364.5	-	12	1886	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P	PIK3AP1_ENST00000371110.2_Silent_p.P411P|PIK3AP1_ENST00000371109.3_Silent_p.P188P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	589						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TACTCGACTGGGGCCTGTCCC	0.582000													15	18					0	0	0.003163	0	0
LRMP	4033	broad.mit.edu	37	12	25254256	25254256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25254256G>A	ENST00000354454.3	+	15	1715	c.886G>A	c.(886-888)Gat>Aat	p.D296N	LRMP_ENST00000547044.1_Missense_Mutation_p.D296N|LRMP_ENST00000548766.1_Missense_Mutation_p.D296N	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	352					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TCTTGAAGATGATGGTAATAA	0.313000													15	32					0	0	0.004990	0	0
CCDC69	26112	broad.mit.edu	37	5	150578589	150578589	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150578589G>A	ENST00000355417.2	-	4	462	c.288C>T	c.(286-288)gtC>gtT	p.V96V	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	96										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCCAGGACCCTTTGCT	0.582000													30	79					0	0	0.005524	0	0
STIM1	6786	broad.mit.edu	37	11	4095774	4095774	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4095774G>A	ENST00000300737.4	+	7	1403	c.834G>A	c.(832-834)gaG>gaA	p.E278E	STIM1_ENST00000527651.1_Silent_p.E278E|STIM1_ENST00000533977.1_Silent_p.E105E	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	278	Glu-rich.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGGAGGTGGAGAAGGTCCATC	0.622000													11	23					0	0	0.001368	0	0
PSG8	440533	broad.mit.edu	37	19	43259144	43259144	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43259144G>A	ENST00000404209.4	-	4	1080	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Silent_p.V235V|PSG8_ENST00000306511.4_Silent_p.V328V|PSG8_ENST00000406636.3_Silent_p.V206V	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	328						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTCACAGAGGACATTCAGGG	0.483000													19	40					0	0	0.002780	0	0
LRRC1	55227	broad.mit.edu	37	6	53743805	53743805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:53743805C>T	ENST00000370888.1	+	3	569	c.292C>T	c.(292-294)Cca>Tca	p.P98S	LRRC1_ENST00000370882.1_Missense_Mutation_p.P98S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	98						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCCTGAAATTCCAGAAAGCAT	0.393000													4	19					0	0	0.000248	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	C	T	rs149614119	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143747706C>T	ENST00000408906.2	+	1	246	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000													23	48					0	0	0.002299	0	0
PROSER1	80209	broad.mit.edu	37	13	39602369	39602369	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39602369C>A	ENST00000352251.3	-	5	1197	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	PROSER1_ENST00000350125.3_Nonsense_Mutation_p.E100*	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	122																	ACTACCTGTTCAAGTATTCTC	0.353000													7	15					8.12818e-05	0.00012647	0.001984	1	0
TFR2	7036	broad.mit.edu	37	7	100226950	100226950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100226950C>T	ENST00000462107.1	-	11	1603	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	TFR2_ENST00000431692.1_Silent_p.R353R|TFR2_ENST00000223051.3_Missense_Mutation_p.G439E|TFR2_ENST00000544242.1_5'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	439					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTAGCTGCTCCTGGGCCCCA	0.632000													13	25					0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55541654	55541654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55541654G>A	ENST00000220676.1	+	4	5360	c.5212G>A	c.(5212-5214)Gga>Aga	p.G1738R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1738					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)			CATAGAGGAAGGAGTACTGAT	0.413000													14	27					0	0	0.002450	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142251101	142251101	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142251101G>A	ENST00000390360.3	-	0	57																											GCCCACAGGAGAGAAAAGGCC	0.542000													19	38					0	0	0.001523	0	0
FETUB	26998	broad.mit.edu	37	3	186370278	186370278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370278G>A	ENST00000265029.3	+	7	1108	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.G336E|FETUB_ENST00000382136.3_Missense_Mutation_p.G299E|FETUB_ENST00000539949.1_Missense_Mutation_p.G188E|FETUB_ENST00000382134.3_Missense_Mutation_p.G271E	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AATCCCCAGGGAGAAACCCTG	0.517000													27	64					0	0	0.002096	0	0
KIF5B	3799	broad.mit.edu	37	10	32328322	32328322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32328322G>A	ENST00000302418.4	-	4	783	c.326C>T	c.(325-327)cCa>cTa	p.P109L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	109	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CACTATTCTTGGAATAATTCC	0.249000			T	"""RET, ALK"""	NSCLC								23	54					0	0	0.004656	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139090426	139090426	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:139090426A>G	ENST00000354926.4	+	5	757	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.K132E|LUC7L2_ENST00000541515.3_Missense_Mutation_p.K201E|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.K134E	NM_016019.3	NP_057103.2																					AGAAATTGGTAAATTGTTAGC	0.343000													5	33					0	0	0.000602	0	0
OR2L3	391192	broad.mit.edu	37	1	248224624	248224624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248224624C>T	ENST00000359959.3	+	1	641	c.641C>T	c.(640-642)tCa>tTa	p.S214L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	214					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)			ATTGCTATTTCATGTTCCTAT	0.512000													26	79					0	0	0.004656	0	0
PC	5091	broad.mit.edu	37	11	66631373	66631373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66631373G>A	ENST00000393960.1	-	12	1521	c.1240C>T	c.(1240-1242)Caa>Taa	p.Q414*	PC_ENST00000393958.2_Nonsense_Mutation_p.Q414*|PC_ENST00000524491.1_Nonsense_Mutation_p.Q374*|PC_ENST00000355677.3_Nonsense_Mutation_p.Q414*|PC_ENST00000393955.2_Nonsense_Mutation_p.Q414*	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	414	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACGGCTCCTTGGAAGGCGGAA	0.637000													40	94					0	0	0.003610	0	0
HRH1	3269	broad.mit.edu	37	3	11301359	11301359	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:11301359G>A	ENST00000397056.1	+	3	827	c.636G>A	c.(634-636)aaG>aaA	p.K212K	HRH1_ENST00000431010.2_Silent_p.K212K|HRH1_ENST00000438284.2_Silent_p.K212K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	212					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTATGCCAAGATCTACAAGG	0.512000													97	47					0	0	0.003610	0	0
XPO7	23039	broad.mit.edu	37	8	21847913	21847913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:21847913C>T	ENST00000434536.1	+	17	2056	c.1954C>T	c.(1954-1956)Cac>Tac	p.H652Y	XPO7_ENST00000433566.4_Missense_Mutation_p.H644Y|XPO7_ENST00000252512.9_Missense_Mutation_p.H643Y			Q9UIA9	XPO7_HUMAN	exportin 7	643					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GCTGAACAATCACACGGTGAG	0.463000													29	92					0	0	0.007291	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338611	91338611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91338611G>A	ENST00000261991.3	-	17	2389	c.2216C>T	c.(2215-2217)cCt>cTt	p.P739L	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P660L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	739					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTTAGCCAAAGGGGCCTTATC	0.468000													12	33					0	0	0.000978	0	0
FLNC	2318	broad.mit.edu	37	7	128484728	128484728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128484728C>T	ENST00000325888.8	+	21	3470	c.3209C>T	c.(3208-3210)cCg>cTg	p.P1070L	FLNC_ENST00000346177.6_Missense_Mutation_p.P1070L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1070					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCTTATGGCCCGGGTCTCAAG	0.657000													12	42					0	0	0.001368	0	0
SYN1	6853	broad.mit.edu	37	X	47432303	47432303	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:47432303C>G	ENST00000295987.7	-	13	2202	c.2078G>C	c.(2077-2079)cGc>cCc	p.R693P	SYN1_ENST00000340666.4_3'UTR	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	693	E.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CCTCAGGCTGCGGATGGTCTC	0.577000													37	22					0	0	0.002222	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514528	241514528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241514528G>A	ENST00000270357.3	+	7	1270	c.677G>A	c.(676-678)gGa>gAa	p.G226E	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	226					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAGCTCTGCGGAGACCCACAG	0.627000													24	52					0	0	0.003330	0	0
OR6M1	390261	broad.mit.edu	37	11	123676589	123676589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123676589G>A	ENST00000309154.2	-	1	506	c.469C>T	c.(469-471)Cca>Tca	p.P157S		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACAATGGTTGGAAACAACACA	0.483000													18	24					0	0	0.006122	0	0
EIF3B	8662	broad.mit.edu	37	7	2409303	2409303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:2409303C>T	ENST00000360876.4	+	10	1656	c.1600C>T	c.(1600-1602)Ccg>Tcg	p.P534S	EIF3B_ENST00000397011.2_Missense_Mutation_p.P534S	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGATAGGACTCCGAAAGGCAC	0.488000													28	28					0	0	0.007291	0	0
DMRT2	10655	broad.mit.edu	37	9	1056231	1056231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:1056231C>T	ENST00000382251.3	+	5	973	c.644C>T	c.(643-645)cCa>cTa	p.P215L	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P215L|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.P215L			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	215					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGCCCCATTCCAGCGGAGACT	0.448000													38	65					0	0	0.005524	0	0
TMEM178A	130733	broad.mit.edu	37	2	39931256	39931256	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39931256T>A	ENST00000281961.2	+	2	492	c.436T>A	c.(436-438)Ttt>Att	p.F146I	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CAAGTACCACTTTTCTCAGCC	0.443000													12	39					0	0	0.003163	0	0
MEN1	4221	broad.mit.edu	37	11	64575469	64575469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64575469C>T	ENST00000337652.1	-	3	1066	c.563G>A	c.(562-564)tGg>tAg	p.W188*	MEN1_ENST00000394374.2_Nonsense_Mutation_p.W188*|MEN1_ENST00000377321.1_Splice_Site_p.W183_splice|MEN1_ENST00000377316.2_Nonsense_Mutation_p.W183*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.W188*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.W183*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.W188*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.W183*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.W188*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.W183*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	188			W -> R (in MEN1 and parathyroid tumor).|W -> S (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.W183*(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AAACACTACCCAGGCATGATC	0.637000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				6	21					0	0	0.001168	0	0
CYTH4	27128	broad.mit.edu	37	22	37708142	37708142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37708142G>A	ENST00000248901.6	+	12	1226	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	347	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CAGGGTGGTGGAGGGCAAGCA	0.632000													12	28					0	0	0.000978	0	0
KANK4	163782	broad.mit.edu	37	1	62728940	62728940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62728940G>A	ENST00000371153.4	-	7	2741	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	KANK4_ENST00000354381.3_Missense_Mutation_p.S160F|KANK4_ENST00000371150.1_Missense_Mutation_p.S144F|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	788										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTTCCGGCTGGAGACGCGGAA	0.572000													7	19					0	0	0.003080	0	0
MTMR12	54545	broad.mit.edu	37	5	32230172	32230172	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230172G>A	ENST00000382142.3	-	16	2126	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	MTMR12_ENST00000264934.5_Silent_p.I542I|MTMR12_ENST00000280285.5_Silent_p.I598I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	652						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACCACCTAGGATTTGGGCTT	0.522000													41	133					0	0	0.002852	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461368	10461368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:10461368C>T	ENST00000503804.1	+	5	1011	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Missense_Mutation_p.P164S			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	164					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGCTCGCATCCCCTTCAAGAC	0.567000													20	76					0	0	0.002299	0	0
BCL11B	64919	broad.mit.edu	37	14	99641885	99641885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99641885C>T	ENST00000345514.2	-	3	1341	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	BCL11B_ENST00000443726.2_Missense_Mutation_p.E236K|BCL11B_ENST00000357195.3_Missense_Mutation_p.E430K	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	430						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGAACTCGCACGACTTG	0.687000			T	TLX3	T-ALL								12	16					0	0	0.002450	0	0
ATP13A5	344905	broad.mit.edu	37	3	193071934	193071934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193071934C>T	ENST00000342358.4	-	6	705	c.588G>A	c.(586-588)tgG>tgA	p.W196*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAAGCAGCTTCCATATGGGTT	0.373000													24	54					0	0	0.007291	0	0
GPR155	151556	broad.mit.edu	37	2	175301022	175301022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:175301022C>T	ENST00000392552.2	-	16	2673	c.2435G>A	c.(2434-2436)gGg>gAg	p.G812E	GPR155_ENST00000295500.4_Missense_Mutation_p.G812E|GPR155_ENST00000392551.2_Missense_Mutation_p.G812E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	812	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GATGACTCCCCCTTGTACCAG	0.483000													35	89					0	0	0.005524	0	0
ZNF569	148266	broad.mit.edu	37	19	37904821	37904821	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37904821A>C	ENST00000316950.6	-	6	1296	c.739T>G	c.(739-741)Tgt>Ggt	p.C247G	ZNF569_ENST00000392150.2_Missense_Mutation_p.C88G|ZNF569_ENST00000392149.2_Missense_Mutation_p.C247G	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTTACCACATTCATTACAT	0.338000													24	83					0	0	0.006320	0	0
ZNF283	284349	broad.mit.edu	37	19	44351942	44351942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44351942C>T	ENST00000324461.7	+	7	1486	c.1189C>T	c.(1189-1191)Cat>Tat	p.H397Y	ZNF283_ENST00000588797.1_Missense_Mutation_p.H258Y	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCAGATATTTCATACTGGTGA	0.373000													57	96					0	0	0.003610	0	0
TREML2	79865	broad.mit.edu	37	6	41162494	41162494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41162494C>T	ENST00000483722.1	-	3	639	c.454G>A	c.(454-456)Gcc>Acc	p.A152T		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	152					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTAGGGGCTTGGCCAGTT	0.537000													10	25					0	0	0.001368	0	0
ERC2	26059	broad.mit.edu	37	3	56468947	56468947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468947C>T	ENST00000288221.6	-	2	344	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	30						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACTTGTTCTTCGGTGGCCCAA	0.493000													24	32					0	0	0.003330	0	0
EMC10	284361	broad.mit.edu	37	19	50983406	50983406	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50983406C>T	ENST00000376918.3	+	4	382	c.336C>T	c.(334-336)atC>atT	p.I112I	EMC10_ENST00000598585.1_Silent_p.I112I|EMC10_ENST00000334976.6_Silent_p.I112I|CTD-2545M3.2_ENST00000598194.1_RNA	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		GGGTCCGGATCCCAAGGCGAC	0.637000													5	22					0	0	0.000602	0	0
PTPRC	5788	broad.mit.edu	37	1	198704324	198704324	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198704324G>A	ENST00000367376.2	+	23	2511	c.2340G>A	c.(2338-2340)aaG>aaA	p.K780K	PTPRC_ENST00000594404.1_Silent_p.K619K|PTPRC_ENST00000442510.2_Silent_p.K782K|PTPRC_ENST00000352140.3_Silent_p.K732K|PTPRC_ENST00000348564.6_Silent_p.K621K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	780	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGTTGTAAAGATCAACCAGC	0.313000													7	40					0	0	0.004482	0	0
THSD7B	80731	broad.mit.edu	37	2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*					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)		GTTGGACCATGGAGTAAATGC	0.413000													41	122					0	0	0.001951	0	0
PHACTR2	9749	broad.mit.edu	37	6	144074921	144074921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144074921C>T	ENST00000427704.2	+	4	423	c.293C>T	c.(292-294)tCa>tTa	p.S98L	PHACTR2_ENST00000305766.6_Missense_Mutation_p.S98L|PHACTR2_ENST00000367582.3_Missense_Mutation_p.S109L|PHACTR2_ENST00000397980.3_Missense_Mutation_p.S109L|PHACTR2_ENST00000367584.4_Missense_Mutation_p.S166L|PHACTR2_ENST00000440869.2_Missense_Mutation_p.S109L	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	98							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TTTGAAAATTCAAACGGGCAC	0.383000													6	17					0	0	0.001168	0	0
SULF2	55959	broad.mit.edu	37	20	46331341	46331341	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46331341G>A	ENST00000359930.4	-	4	1340	c.489C>T	c.(487-489)ctC>ctT	p.L163L	SULF2_ENST00000467815.1_Silent_p.L163L|SULF2_ENST00000361612.4_Silent_p.L163L|SULF2_ENST00000484875.1_Silent_p.L163L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	163					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTTTTTAAGGAGTCCGACCC	0.542000													25	40					0	0	0.006320	0	0
NABP2	79035	broad.mit.edu	37	12	56622898	56622898	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56622898C>T	ENST00000380198.2	+	6	1035	c.537C>T	c.(535-537)atC>atT	p.I179I	NABP2_ENST00000341463.5_Silent_p.I179I|NABP2_ENST00000267023.4_Silent_p.I179I					nucleic acid binding protein 2																		GCACCCGAATCACTCGAAGCC	0.617000													18	37					0	0	0.006122	0	0
FGFR1	2260	broad.mit.edu	37	8	38282038	38282038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38282038G>A	ENST00000447712.2	-	7	1866	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000425967.3_Nonsense_Mutation_p.Q340*|FGFR1_ENST00000341462.5_Nonsense_Mutation_p.Q310*|FGFR1_ENST00000356207.5_Nonsense_Mutation_p.Q220*|FGFR1_ENST00000532791.1_Nonsense_Mutation_p.Q309*|FGFR1_ENST00000326324.6_Nonsense_Mutation_p.Q218*|FGFR1_ENST00000335922.5_Nonsense_Mutation_p.Q301*|FGFR1_ENST00000397108.4_Nonsense_Mutation_p.Q307*|FGFR1_ENST00000397113.2_Nonsense_Mutation_p.Q307*|FGFR1_ENST00000397103.1_Nonsense_Mutation_p.Q218*|FGFR1_ENST00000397091.5_Nonsense_Mutation_p.Q307*	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	309	Ig-like C2-type 3.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TTCAAGATCTGGACATAAGGC	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						27	53					0	0	0.006320	0	0
MT1F	4494	broad.mit.edu	37	16	56692623	56692623	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:56692623A>C	ENST00000334350.6	+	2	430	c.65A>C	c.(64-66)aAa>aCa	p.K22T	MT1F_ENST00000568475.1_Missense_Mutation_p.K22T|MT1F_ENST00000394501.2_Missense_Mutation_p.K23T			P04733	MT1F_HUMAN	metallothionein 1F	22	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										TGCAAGTGCAAAGAGTGCAAA	0.562000													13	27					0	0	0.006122	0	0
NPIPB7	440350	broad.mit.edu	37	16	28468171	28468171	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28468171G>A	ENST00000452313.1	-	7	927	c.819C>T	c.(817-819)ccC>ccT	p.P273P																								AGGGTGGAAGGGGAGTGAGCA	0.512000													15	7					0	0	0.007413	0	0
PREX2	80243	broad.mit.edu	37	8	69021805	69021805	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69021805C>T	ENST00000288368.4	+	25	3370	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1031					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AACTGCTGGGCAAACTTCAGA	0.418000													20	83					0	0	0.001882	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8841889C>T	ENST00000324060.2	+	1	574	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000													35	75					0	0	0.003755	0	0
NVL	4931	broad.mit.edu	37	1	224455761	224455761	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:224455761A>G	ENST00000281701.6	-	18	2416	c.2157T>C	c.(2155-2157)ttT>ttC	p.F719F	NVL_ENST00000469075.1_Silent_p.F628F|NVL_ENST00000391875.2_Silent_p.F613F|NVL_ENST00000482491.1_Silent_p.F443F|NVL_ENST00000340871.4_Silent_p.F530F|NVL_ENST00000361463.3_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	719						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGCCATAATAAAAACCTGCT	0.398000													18	62					0	0	0.001216	0	0
WDR93	56964	broad.mit.edu	37	15	90280894	90280894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90280894C>T	ENST00000268130.7	+	15	1800	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	WDR93_ENST00000560294.1_Missense_Mutation_p.P539S|WDR93_ENST00000444934.2_Missense_Mutation_p.P284S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	567					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGAGCCTTTCCTCTGGAGGT	0.557000													5	53					0	0	0.001168	0	0
DCX	1641	broad.mit.edu	37	X	110654098	110654098	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:110654098T>A	ENST00000338081.3	-	1	276	c.105A>T	c.(103-105)gaA>gaT	p.E35D	DCX_ENST00000371993.2_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000488120.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	35					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CCTGACAAAATTCCCCTTGAA	0.423000													65	41					0	0	0.003610	0	0
MCTP2	55784	broad.mit.edu	37	15	94910937	94910937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:94910937C>T	ENST00000357742.4	+	10	1405	c.1405C>T	c.(1405-1407)Ccc>Tcc	p.P469S	MCTP2_ENST00000557742.1_Missense_Mutation_p.P57S|MCTP2_ENST00000451018.3_Missense_Mutation_p.P469S|MCTP2_ENST00000331706.4_Missense_Mutation_p.P57S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	469					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CACACTTACACCCTGTGCGGG	0.532000													11	52					0	0	0.000978	0	0
TAF6	6878	broad.mit.edu	37	7	99711359	99711359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99711359G>A	ENST00000344095.4	-	4	802	c.277C>T	c.(277-279)Cct>Tct	p.P93S	TAF6_ENST00000472509.1_Missense_Mutation_p.P150S|TAF6_ENST00000418432.2_Missense_Mutation_p.P36S|TAF6_ENST00000437822.2_Missense_Mutation_p.P130S|TAF6_ENST00000453269.2_Missense_Mutation_p.P93S|TAF6_ENST00000452041.1_Missense_Mutation_p.P93S	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	93					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGCGGAAAGGAATGAACTCC	0.597000													10	19					0	0	0.006214	0	0
ZNF648	127665	broad.mit.edu	37	1	182027103	182027103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182027103G>A	ENST00000339948.3	-	2	250	c.43C>T	c.(43-45)Cct>Tct	p.P15S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CTGCTGAGAGGAGACGCCTCT	0.552000													16	43					0	0	0.004007	0	0
TGS1	96764	broad.mit.edu	37	8	56723525	56723525	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56723525C>T	ENST00000260129.5	+	11	2706	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	743	Sufficient for catalytic activity.				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			AGATAGAGTTCATCTGTGGAG	0.448000													46	102					0	0	0.003610	0	0
TCF7L2	6934	broad.mit.edu	37	10	114901043	114901043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114901043C>T	ENST00000355995.4	+	6	1160	c.653C>T	c.(652-654)cCa>cTa	p.P218L	TCF7L2_ENST00000355717.4_Missense_Mutation_p.P242L|TCF7L2_ENST00000369395.1_Missense_Mutation_p.P243L|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P195L|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P218L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P218L|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P195L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P218L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P218L|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P218L|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P218L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	218	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AACCCACCTCCACACTTACCA	0.577000			T	VTI1A	colorectal								36	88					0	0	0.006230	0	0
POTEH	23784	broad.mit.edu	37	22	16287502	16287502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16287502C>T	ENST00000343518.6	-	1	435	c.384G>A	c.(382-384)atG>atA	p.M128I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	128										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAGTGTCTTCATAGCAGAGT	0.617000													32	100					0	0	0.002522	0	0
ZBTB26	57684	broad.mit.edu	37	9	125682045	125682045	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125682045A>G	ENST00000373656.3	-	2	242	c.169T>C	c.(169-171)Ttc>Ctc	p.F57L	ZBTB26_ENST00000373654.1_Missense_Mutation_p.F57L	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	57	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TCTCTTAAGAAGGGGGAACCT	0.368000													17	24					0	0	0.007413	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111795758	111795758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111795758G>A	ENST00000452346.2	+	16	1994	c.1991G>A	c.(1990-1992)gGg>gAg	p.G664E	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.G538E			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	664	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCACACCTCGGGATGTATGTT	0.428000													45	101					0	0	0.002522	0	0
PTGS1	5742	broad.mit.edu	37	9	125152536	125152536	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125152536G>A	ENST00000362012.2	+	10	1361	c.1356G>A	c.(1354-1356)agG>agA	p.R452R	PTGS1_ENST00000373698.5_Silent_p.R343R|PTGS1_ENST00000540753.1_Silent_p.R390R|PTGS1_ENST00000223423.4_Silent_p.R415R	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	452					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATGTCATCAGGGAGTCTCGGG	0.592000													19	32					0	0	0.002299	0	0
PABPC5	140886	broad.mit.edu	37	X	90691123	90691123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:90691123C>T	ENST00000312600.3	+	2	761	c.547C>T	c.(547-549)Cca>Tca	p.P183S	PABPC5_ENST00000373105.1_Missense_Mutation_p.P19S	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	183						cytoplasm	nucleotide binding|RNA binding	p.P183T(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ATTCAAATTCCCAGAAGAGCG	0.488000													7	11					0	0	0.001984	0	0
ZNF99	7652	broad.mit.edu	37	19	22939432	22939432	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22939432C>T	ENST00000397104.3	-	7	2738	c.2739G>A	c.(2737-2739)gaG>gaA	p.E913E						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTACGGTTTCTCCCCAGTAT	0.363000													18	34					0	0	0.007413	0	0
C19orf57	79173	broad.mit.edu	37	19	14001203	14001203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14001203G>A	ENST00000454313.1	-	6	524	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Nonsense_Mutation_p.Q156*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.Q156*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	156					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGCCTCCTGGAGGGGGACC	0.667000													11	41					0	0	0.000673	0	0
FAM47A	158724	broad.mit.edu	37	X	34149560	34149560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149560G>A	ENST00000346193.3	-	1	887	c.836C>T	c.(835-837)cCt>cTt	p.P279L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	279										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						GCCCTCACAAGGAGCCCGTGC	0.572000													6	1					0	0	0.001168	0	0
BCL6B	255877	broad.mit.edu	37	17	6930107	6930107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:6930107G>A	ENST00000293805.5	+	7	1230	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	380						nucleus	zinc ion binding			skin(1)	1						CATCCATTCGGGAGAGAAGCC	0.567000													14	26					0	0	0.002450	0	0
SENP7	57337	broad.mit.edu	37	3	101066822	101066822	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:101066822A>T	ENST00000394095.2	-	13	1784	c.1731T>A	c.(1729-1731)gaT>gaA	p.D577E	SENP7_ENST00000394094.2_Missense_Mutation_p.D512E|SENP7_ENST00000394091.1_Missense_Mutation_p.D413E|SENP7_ENST00000358203.3_Missense_Mutation_p.D413E|SENP7_ENST00000348610.3_Missense_Mutation_p.D544E|SENP7_ENST00000314261.7_Missense_Mutation_p.D511E	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	577					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						TGTGATTATCATCCTTACTTT	0.358000													45	114					0	0	0.003610	0	0
RGS6	9628	broad.mit.edu	37	14	72921280	72921280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72921280G>A	ENST00000553530.1	+	4	436	c.229G>A	c.(229-231)Gac>Aac	p.D77N	RGS6_ENST00000407322.4_Missense_Mutation_p.D77N|RGS6_ENST00000434263.2_Missense_Mutation_p.D8N|RGS6_ENST00000343854.6_Missense_Mutation_p.D77N|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.D77N|RGS6_ENST00000555571.1_Missense_Mutation_p.D77N|RGS6_ENST00000402788.2_Missense_Mutation_p.D77N|RGS6_ENST00000355512.6_Missense_Mutation_p.D77N|RGS6_ENST00000556437.1_Missense_Mutation_p.D77N|RGS6_ENST00000404301.2_Missense_Mutation_p.D77N|RGS6_ENST00000553525.1_Missense_Mutation_p.D77N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	77	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCCATTGAGGACCCAGGTAC	0.478000													35	85					0	0	0.002522	0	0
NLRP13	126204	broad.mit.edu	37	19	56424463	56424463	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424463C>T	ENST00000588751.1	-	5	744	c.720G>A	c.(718-720)ggG>ggA	p.G240G	NLRP13_ENST00000342929.3_Silent_p.G240G			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	240	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTGGTCTTCCCAACCCCTG	0.507000													20	82					0	0	0.002299	0	0
C17orf47	284083	broad.mit.edu	37	17	56621404	56621404	+	Silent	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56621404A>C	ENST00000321691.3	-	1	325	c.144T>G	c.(142-144)ccT>ccG	p.P48P	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	48										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCGGTGGGAAGGGTTCAGGG	0.552000													12	32					0	0	0.000978	0	0
RNF40	9810	broad.mit.edu	37	16	30779532	30779532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30779532C>T	ENST00000324685.6	+	13	2095	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	RNF40_ENST00000357890.5_Missense_Mutation_p.P454S|RNF40_ENST00000563683.1_Missense_Mutation_p.P514S|RNF40_ENST00000402121.3_Missense_Mutation_p.P246S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGCCAGGCCCTGTCAGTAC	0.632000													12	32					0	0	0.001368	0	0
CDCP1	64866	broad.mit.edu	37	3	45152295	45152295	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45152295A>G	ENST00000296129.1	-	4	828	c.694T>C	c.(694-696)Tca>Cca	p.S232P	CDCP1_ENST00000425231.2_Missense_Mutation_p.S232P	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	232						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGGGTTGCTGAGCCTTCACCC	0.552000													104	61					0	0	0.003610	0	0
DENND2A	27147	broad.mit.edu	37	7	140221841	140221841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140221841C>T	ENST00000275884.6	-	17	3142	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	DENND2A_ENST00000537639.1_Missense_Mutation_p.E909K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E909K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	909	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCACAATCTCCACGAAGAAG	0.592000													9	19					0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155155969	155155969	+	Missense_Mutation	SNP	G	G	A	rs145080105	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155155969G>A	ENST00000357232.3	-	25	8469	c.8470C>T	c.(8470-8472)Cct>Tct	p.P2824S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2824					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTATCAAAGGGGGTGGAAAA	0.468000													30	82					0	0	0.002096	0	0
FMN1	342184	broad.mit.edu	37	15	33261035	33261035	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261035G>T	ENST00000334528.9	-	4	2197	c.2198C>A	c.(2197-2199)cCc>cAc	p.P733H	FMN1_ENST00000561249.1_Missense_Mutation_p.P858H|FMN1_ENST00000559047.1_Missense_Mutation_p.P956H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	956	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGTCCAGGGGGAGGTGGGGG	0.607000													11	41					6.40141e-05	9.96376e-05	0.000978	1	0
MYO16	23026	broad.mit.edu	37	13	109772717	109772717	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:109772717G>A	ENST00000356711.2	+	29	3498		c.e29-1		MYO16_ENST00000357550.2_Splice_Site|MYO16_ENST00000457511.2_Splice_Site	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI						cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGCATTTTAGATGGGAGTCC	0.358000													14	36					0	0	0.002450	0	0
INHBC	3626	broad.mit.edu	37	12	57843232	57843232	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57843232C>T	ENST00000309668.2	+	2	613	c.486C>T	c.(484-486)ctC>ctT	p.L162L	INHBC_ENST00000550133.1_Silent_p.L162L	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	162					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ATACCAACCTCACCTTGGCTA	0.562000													42	89					0	0	0.003214	0	0
FBXO24	26261	broad.mit.edu	37	7	100198468	100198468	+	Silent	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100198468G>C	ENST00000241071.6	+	10	2011	c.1689G>C	c.(1687-1689)ctG>ctC	p.L563L	FBXO24_ENST00000468962.1_Silent_p.L551L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.L601L|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	563						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGGACATGCTGCAGAGGGCTG	0.632000													12	55					0	0	0.001855	0	0
PAPPA	5069	broad.mit.edu	37	9	118974017	118974017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:118974017G>A	ENST00000328252.3	+	4	2093	c.1724G>A	c.(1723-1725)cGa>cAa	p.R575Q	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	575	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACGTCTTCCGAGGCATCTCA	0.547000													28	37					0	0	0.006320	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90665351	90665351	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90665351T>G	ENST00000371927.3	+	3	1140	c.182T>G	c.(181-183)aTg>aGg	p.M61R	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.M61R|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.M61R			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	61							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		ATGGAGAGGATGGCGTCTGTG	0.403000													25	67					0	0	0.006320	0	0
CHD6	84181	broad.mit.edu	37	20	40162107	40162107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40162107C>T	ENST00000373233.3	-	3	313	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CHD6_ENST00000373222.3_Missense_Mutation_p.E81K|CHD6_ENST00000309279.7_Missense_Mutation_p.E46K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	46					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCAATTTTCTCTTCTTGATCA	0.418000													34	90					0	0	0.003271	0	0
ACIN1	22985	broad.mit.edu	37	14	23549735	23549735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23549735G>A	ENST00000262710.1	-	6	1310	c.983C>T	c.(982-984)tCc>tTc	p.S328F	ACIN1_ENST00000605057.1_Missense_Mutation_p.S270F|ACIN1_ENST00000555053.1_Missense_Mutation_p.S328F|ACIN1_ENST00000457657.1_Missense_Mutation_p.S288F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	328	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTGTTCCTGGGATCTTGTTTT	0.473000													24	57					0	0	0.003330	0	0
SPRR3	6707	broad.mit.edu	37	1	152975872	152975872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975872C>T	ENST00000331860.3	+	3	526	c.376C>T	c.(376-378)Cct>Tct	p.P126S	SPRR3_ENST00000295367.4_Missense_Mutation_p.P126S|SPRR3_ENST00000542696.1_Missense_Mutation_p.P118S	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	126	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGTTTCCTGAGCCAGG	0.552000													13	25					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179442904	179442904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179442904G>A	ENST00000589042.1	-	322	68562	c.68338C>T	c.(68338-68340)Ctc>Ttc	p.L22780F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L21139F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L13715F|TTN_ENST00000342175.6_Missense_Mutation_p.L13907F|TTN_ENST00000342992.6_Missense_Mutation_p.L20212F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13840F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21139							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)			TTGAACTCGAGATGATACCCT	0.358000													32	66					0	0	0.003755	0	0
OR7G3	390883	broad.mit.edu	37	19	9236929	9236929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9236929C>T	ENST00000305444.2	-	1	697	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTATACTTTCCACCAGCTGA	0.438000													37	111					0	0	0.006999	0	0
CEP85L	387119	broad.mit.edu	37	6	118887280	118887280	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:118887280G>A	ENST00000368491.3	-	3	1053	c.432C>T	c.(430-432)tcC>tcT	p.S144S	CEP85L_ENST00000360290.3_Silent_p.S42S|CEP85L_ENST00000392500.3_Silent_p.S147S|CEP85L_ENST00000368488.5_Silent_p.S147S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000419517.2_Silent_p.S144S	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	144						centrosome											TCATGTCTAGGGAAGAGTCCT	0.498000													20	32					0	0	0.007413	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213303012	213303012	+	Silent	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213303012G>C	ENST00000366960.3	+	6	765	c.615G>C	c.(613-615)ggG>ggC	p.G205G	RPS6KC1_ENST00000366959.3_Silent_p.G193G|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_Silent_p.G24G	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	205					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGCACTAGGGGCTGTTGCTT	0.438000													5	48					0	0	0.001168	0	0
CEP85	64793	broad.mit.edu	37	1	26584098	26584098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26584098G>A	ENST00000252992.4	+	5	1045	c.914G>A	c.(913-915)gGa>gAa	p.G305E	CEP85_ENST00000451429.2_Missense_Mutation_p.G254E	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	305						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTTCAGAATGGAGCCATCTGC	0.493000													86	163					0	0	0.003610	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215935	37215935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37215935G>A	ENST00000233099.5	-	35	5860	c.5765C>T	c.(5764-5766)cCt>cTt	p.P1922L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.P1833L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1922							binding	p.P1922R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGAATATAAGGAGTTGAAAG	0.383000													24	58					0	0	0.005443	0	0
MROH2B	133558	broad.mit.edu	37	5	41061700	41061700	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41061700T>G	ENST00000399564.4	-	6	1037	c.587A>C	c.(586-588)aAg>aCg	p.K196T		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGGGCCCACTTCTCCATTAT	0.488000													16	240					0	0	0.006122	0	0
TPO	7173	broad.mit.edu	37	2	1520668	1520668	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1520668C>T	ENST00000345913.4	+	15	2623	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	TPO_ENST00000337415.3_Silent_p.L844L|TPO_ENST00000329066.4_Silent_p.L844L|TPO_ENST00000382198.1_Silent_p.L671L|TPO_ENST00000382201.3_Silent_p.L787L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.L671L|TPO_ENST00000346956.3_Silent_p.L800L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	844					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCGGGAGGCTCCCTCGGGTGA	0.602000													6	38					0	0	0.001984	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40705656	40705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:40705656C>T	ENST00000356699.5	+	4	3342	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		GCCAATGTTTCCCCCTATTCA	0.483000													113	333					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128484727	128484727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128484727C>T	ENST00000325888.8	+	21	3469	c.3208C>T	c.(3208-3210)Ccg>Tcg	p.P1070S	FLNC_ENST00000346177.6_Missense_Mutation_p.P1070S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1070					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCTTATGGCCCGGGTCTCAA	0.652000													12	43					0	0	0.001368	0	0
COL22A1	169044	broad.mit.edu	37	8	139661981	139661981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139661981G>A	ENST00000303045.6	-	46	3820	c.3374C>T	c.(3373-3375)cCt>cTt	p.P1125L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1105L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1125	Collagen-like 10.|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)			TGGTAGACCAGGGAGGCCTGG	0.512000										HNSCC(7;0.00092)			12	45					0	0	0.003163	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881493	142881493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142881493C>T	ENST00000446620.1	+	1	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	328					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					GCTTCAGCTTCGACTTCATCT	0.527000													5	13					0	0	0.001168	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310456	57310456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57310456G>A	ENST00000457912.1	+	2	395	c.395G>A	c.(394-396)aGg>aAg	p.R132K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.R114K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.R114K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	114										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						ATGACTGGCAGGAAAGAAGAG	0.522000													4	7					0	0	0.000248	0	0
STEAP3	55240	broad.mit.edu	37	2	120003204	120003204	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120003204C>T	ENST00000354888.5	+	3	636	c.132C>T	c.(130-132)gcC>gcT	p.A44A	STEAP3_ENST00000425223.2_Silent_p.A44A|STEAP3_ENST00000450943.2_Silent_p.A44A|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Silent_p.A54A|STEAP3_ENST00000393107.2_Silent_p.A44A|STEAP3_ENST00000393106.2_Silent_p.A44A|STEAP3_ENST00000409811.1_Silent_p.A44A|STEAP3_ENST00000393108.2_Silent_p.A44A	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	44					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCCCTGGCCACACGCCTGG	0.642000													6	14					0	0	0.001984	0	0
GALNT8	26290	broad.mit.edu	37	12	4870257	4870257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4870257G>A	ENST00000252318.2	+	7	1644	c.1307G>A	c.(1306-1308)tGg>tAg	p.W436*		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	436						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GCCGAAATCTGGATGGATGAG	0.542000													27	40					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179440668	179440668	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179440668A>T	ENST00000589042.1	-	326	70415	c.70191T>A	c.(70189-70191)ttT>ttA	p.F23397L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F21756L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F14332L|TTN_ENST00000342175.6_Missense_Mutation_p.F14524L|TTN_ENST00000342992.6_Missense_Mutation_p.F20829L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F14457L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21756	Fibronectin type-III 70.						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)			TCAGAAGAGTAAATGATTCCG	0.403000													83	161					0	0	0.003610	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723808	140723808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140723808G>A	ENST00000253812.6	+	1	208	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCCAGAGGTAGGACGCA	0.612000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	89					0	0	0.004656	0	0
OR4D2	124538	broad.mit.edu	37	17	56247444	56247444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:56247444G>A	ENST00000545221.1	+	1	428	c.428G>A	c.(427-429)gGg>gAg	p.G143E		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCTGGGTGGGGCTGGTGGTA	0.582000													9	44					0	0	0.004482	0	0
ANKFN1	162282	broad.mit.edu	37	17	54535305	54535305	+	Missense_Mutation	SNP	C	C	T	rs145812649	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:54535305C>T	ENST00000566473.2	+	13	1531	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R511W			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	511										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGCAAACTCGGCAGAAGAT	0.463000													10	30					0	0	0.000673	0	0
SPA17	53340	broad.mit.edu	37	11	124545175	124545175	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124545175C>T	ENST00000532692.1	+	1	1436	c.15C>T	c.(13-15)ttC>ttT	p.F5F	SPA17_ENST00000227135.2_Silent_p.F5F|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	5					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CGATTCCATTCTCCAACACCC	0.398000													35	73					0	0	0.006999	0	0
CNOT1	23019	broad.mit.edu	37	16	58576357	58576357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58576357G>A	ENST00000317147.5	-	32	4882	c.4550C>T	c.(4549-4551)cCt>cTt	p.P1517L	CNOT1_ENST00000569240.1_Missense_Mutation_p.P1512L|CNOT1_ENST00000245138.4_Missense_Mutation_p.P368L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1517					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCCATCTCAGGGCCTGCTTT	0.388000													66	192					0	0	0.003610	0	0
RALB	5899	broad.mit.edu	37	2	121047196	121047196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:121047196C>T	ENST00000272519.5	+	4	634	c.364C>T	c.(364-366)Cca>Tca	p.P122S	RALB_ENST00000420510.1_Missense_Mutation_p.P122S|RALB_ENST00000474855.2_Missense_Mutation_p.P144S|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.P143S	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	122					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AGATAAAATTCCACTGCTCGT	0.498000													38	91					0	0	0.007835	0	0
OR6F1	343169	broad.mit.edu	37	1	247875554	247875554	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247875554G>A	ENST00000302084.2	-	1	551	c.504C>T	c.(502-504)ttC>ttT	p.F168F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F168F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GGGGGCCACAGAAGGACAGGC	0.597000													30	45					0	0	0.001786	0	0
CLDN6	9074	broad.mit.edu	37	16	3065695	3065695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3065695C>T	ENST00000396925.1	-	3	756	c.328G>A	c.(328-330)Gag>Aag	p.E110K	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Missense_Mutation_p.E110K			P56747	CLD6_HUMAN	claudin 6	110					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAATCCTTCTCCTCCACACAG	0.612000													6	20					0	0	0.001168	0	0
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169525915G>A	ENST00000367796.3	-	6	1122	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_ENST00000546081.1_Silent_p.I170I|F5_ENST00000367797.3_Silent_p.I307I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	307	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GAGAAGATATGATCCACTTTC	0.483000													20	22					0	0	0.001216	0	0
STPG2	285555	broad.mit.edu	37	4	98902414	98902414	+	Missense_Mutation	SNP	C	C	T	rs150708038		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:98902414C>T	ENST00000295268.3	-	6	757	c.668G>A	c.(667-669)cGa>cAa	p.R223Q		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		GAGAGCAGTTCGAGGTTCATT	0.388000													16	63					0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414017	105414017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105414017G>A	ENST00000333244.5	-	7	7890	c.7771C>T	c.(7771-7773)Ccc>Tcc	p.P2591S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2591						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)			TCCAGCTTGGGGCCCTTGACA	0.617000													47	118					0	0	0.003610	0	0
ENAM	10117	broad.mit.edu	37	4	71508967	71508967	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71508967C>T	ENST00000396073.3	+	9	2105	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	608					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CATATGATCCCAGGGAAAACT	0.428000													31	118					0	0	0.002836	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872600	51872600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872600C>T	ENST00000371497.5	+	2	3490	c.2603C>T	c.(2602-2604)tCa>tTa	p.S868L	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S865L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S865L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	868					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTCCAGACATCAGAGGGCAAA	0.498000													24	56					0	0	0.006320	0	0
NUP98	4928	broad.mit.edu	37	11	3752715	3752715	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:3752715T>C	ENST00000324932.7	-	14	2056	c.1636A>G	c.(1636-1638)Aag>Gag	p.K546E	NUP98_ENST00000397004.4_Missense_Mutation_p.K546E|NUP98_ENST00000397007.4_Missense_Mutation_p.K563E|NUP98_ENST00000359171.4_Missense_Mutation_p.K546E|NUP98_ENST00000355260.3_Missense_Mutation_p.K546E	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	563					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTAAAGCCTTTGGCCGGACT	0.488000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								59	126					0	0	0.003610	0	0
SCEL	8796	broad.mit.edu	37	13	78183252	78183252	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:78183252G>A	ENST00000535157.1	+	19	1321	c.1151_splice	c.e19+1	p.G384_splice	SCEL_ENST00000349847.3_Splice_Site_p.G426_splice|SCEL_ENST00000377246.3_Splice_Site_p.G406_splice|SCEL_ENST00000469982.1_3'UTR	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	426	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AGTACTGAAGGGTAAGATTTA	0.313000													9	24					0	0	0.001368	0	0
RNF150	57484	broad.mit.edu	37	4	141889002	141889002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:141889002C>T	ENST00000306799.3	-	2	1163	c.510G>A	c.(508-510)atG>atA	p.M170I	RNF150_ENST00000420921.2_Missense_Mutation_p.M29I|RNF150_ENST00000379512.2_Missense_Mutation_p.M29I|RNF150_ENST00000507500.1_Missense_Mutation_p.M170I|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000515673.1_Missense_Mutation_p.M170I	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	170	PA.					integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCTCAGGAATCATTATGGCCA	0.478000													34	74					0	0	0.003271	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594625	140594625	+	Silent	SNP	C	C	T	rs150808997		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140594625C>T	ENST00000341948.4	+	1	1117	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F310F(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACTCGATTTCGAAAAACTTC	0.378000													34	85					0	0	0.002836	0	0
ZFP82	284406	broad.mit.edu	37	19	36884177	36884177	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36884177G>A	ENST00000392161.3	-	5	1307	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	ZFP82_ENST00000392171.1_Silent_p.L355L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTCTGATGGAGTGTTAGTT	0.413000													24	51					0	0	0.002780	0	0
PRKACB	5567	broad.mit.edu	37	1	84668433	84668433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:84668433C>T	ENST00000370689.2	+	8	974	c.710C>T	c.(709-711)cCc>cTc	p.P237L	PRKACB_ENST00000394838.2_Missense_Mutation_p.P244L|PRKACB_ENST00000370680.1_Missense_Mutation_p.P243L|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237L|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241L|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284L|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207L	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	237	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCTGGCTATCCCCCATTCTTT	0.373000													25	73					0	0	0.003330	0	0
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488000													68	186					0	0	0.003610	0	0
ABHD3	171586	broad.mit.edu	37	18	19239241	19239241	+	Silent	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:19239241A>C	ENST00000578270.1	-	5	1087	c.147T>G	c.(145-147)acT>acG	p.T49T	ABHD3_ENST00000289119.2_Silent_p.T244T|ABHD3_ENST00000580981.1_Silent_p.T191T			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	244						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CAACGGAAAAAGTTGCAGCTG	0.408000													25	47					0	0	0.005443	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535770	43535770	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43535770G>A	ENST00000430334.3	-	6	1477	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	PLEKHM1_ENST00000421073.2_Silent_p.Y359Y|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	448					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)					GGGAAGGCCGGTAGAAGTCAT	0.488000													5	20					0	0	0.001984	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975332	32975332	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32975332C>T	ENST00000229829.5	-	3	444	c.369G>A	c.(367-369)gtG>gtA	p.V123V	HLA-DOA_ENST00000450833.2_Silent_p.V93V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	123	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						GGCCCAGCTCCACCCGAGACT	0.607000													17	68					0	0	0.004990	0	0
ANKK1	255239	broad.mit.edu	37	11	113266842	113266842	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113266842C>A	ENST00000303941.3	+	5	830	c.736C>A	c.(736-738)Cta>Ata	p.L246I		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	246	Protein kinase.						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)		GCGGCCCTCCCTACAGCCTGT	0.582000													19	57					1.01871e-10	1.59743e-10	0.001216	1	0
NOD1	10392	broad.mit.edu	37	7	30491125	30491125	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:30491125G>A	ENST00000222823.4	-	6	2433	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	636					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTGAACGCGGGGCAGGCTCT	0.637000													6	15					0	0	0.001168	0	0
ZNF432	9668	broad.mit.edu	37	19	52537028	52537028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52537028G>A	ENST00000594154.1	-	5	2116	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ZNF432_ENST00000221315.5_Missense_Mutation_p.S635F			O94892	ZN432_HUMAN	zinc finger protein 432	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTGAGGAGAAGGCTTT	0.413000													42	126					0	0	0.002222	0	0
KDM6B	23135	broad.mit.edu	37	17	7751369	7751369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7751369C>T	ENST00000254846.5	+	11	2152	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	KDM6B_ENST00000448097.2_Missense_Mutation_p.P588L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	588	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCCGGCCTCCCAGCCCAGCA	0.627000													8	47					0	0	0.004482	0	0
SEMG2	6407	broad.mit.edu	37	20	43851922	43851922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43851922C>T	ENST00000372769.3	+	2	1739	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	550	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACAGGAATCCAGTGAGTCA	0.378000													22	39					0	0	0.002299	0	0
EFHB	151651	broad.mit.edu	37	3	19940269	19940269	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:19940269C>T	ENST00000295824.9	-	8	1732		c.e8+1		EFHB_ENST00000344838.4_Splice_Site|EFHB_ENST00000498089.1_Splice_Site	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B						signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TGTATATTTACCATATTCCTC	0.378000													24	26					0	0	0.003330	0	0
IKBKB	3551	broad.mit.edu	37	8	42176873	42176873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42176873G>A	ENST00000520810.1	+	14	1636	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	IKBKB_ENST00000416505.2_Missense_Mutation_p.D425N|IKBKB_ENST00000379708.3_Missense_Mutation_p.D261N|IKBKB_ENST00000520835.1_Missense_Mutation_p.D482N|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	484					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|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;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGCCAAGTTGGATTTCTTCAA	0.473000											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	57					0	0	0.001882	0	0
CD5L	922	broad.mit.edu	37	1	157803289	157803289	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157803289C>T	ENST00000368174.4	-	5	828	c.732G>A	c.(730-732)ttG>ttA	p.L244L		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	244	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTACTAGTCTCAAGTCAAAGG	0.478000													23	62					0	0	0.002780	0	0
CLCN4	1183	broad.mit.edu	37	X	10176170	10176170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:10176170C>T	ENST00000380833.4	+	9	1320	c.929C>T	c.(928-930)cCc>cTc	p.P310L	CLCN4_ENST00000421085.2_Missense_Mutation_p.P216L|CLCN4_ENST00000380829.1_Missense_Mutation_p.P310L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	310						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCATCAATCCCTTTGGGAAT	0.517000													80	46					0	0	0.003610	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810824	65810824	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65810824G>A	ENST00000312006.4	-	3	731	c.450C>T	c.(448-450)atC>atT	p.I150I	GAL3ST3_ENST00000527878.1_Silent_p.I150I	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	150					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GCTCGCGCAGGATGGTGACAT	0.697000													5	6					0	0	0.000602	0	0
KY	339855	broad.mit.edu	37	3	134327570	134327570	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134327570C>T	ENST00000508956.1	-	9	1005	c.948G>A	c.(946-948)gaG>gaA	p.E316E	KY_ENST00000503669.1_Intron|KY_ENST00000423778.2_Silent_p.E337E			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	337						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ACATGTTGTTCTCAAACTGCC	0.507000													27	66					0	0	0.005443	0	0
FAM71B	153745	broad.mit.edu	37	5	156590038	156590038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156590038C>T	ENST00000302938.4	-	2	1333	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	413						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)			TTTCTGGCTTCCATCTCGTTC	0.483000													150	329					0	0	0.003610	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937287	4937287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4937287C>T	ENST00000512825.2	-	3	1908	c.497G>A	c.(496-498)gGt>gAt	p.G166D	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G166D|SLC52A1_ENST00000424747.1_Missense_Mutation_p.G166D			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	166						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCGGCCCACACCTTGCACTAG	0.632000													14	34					0	0	0.001855	0	0
TGM6	343641	broad.mit.edu	37	20	2381043	2381043	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:2381043G>A	ENST00000202625.2	+	7	1003	c.942G>A	c.(940-942)gtG>gtA	p.V314V	TGM6_ENST00000381423.1_Silent_p.V314V|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	314					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAAATACGTGGACTCCTTCG	0.617000													32	43					0	0	0.005524	0	0
PTPRD	5789	broad.mit.edu	37	9	8518111	8518111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518111C>T	ENST00000381196.4	-	18	1823	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q	PTPRD_ENST00000355233.5_Missense_Mutation_p.R427Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.R417Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.R424Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R424Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.R417Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.R414Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.R427Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R414Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R427Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.R427Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	427	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)		ACTCAACATTCGTGCCTGGAC	0.502000										TSP Lung(15;0.13)			28	103					0	0	0.007291	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535734	124535734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:124535734G>A	ENST00000408936.3	+	12	3109	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G852E|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G948E			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	976					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCTCCAAGGGGGACAGCCCA	0.647000													5	5					0	0	0.001984	0	0
DDC	1644	broad.mit.edu	37	7	50537803	50537803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50537803C>T	ENST00000444124.2	-	12	1308	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R	DDC_ENST00000431062.1_Missense_Mutation_p.G277R|DDC_ENST00000357936.5_Missense_Mutation_p.G370R|DDC_ENST00000426377.1_Missense_Mutation_p.G292R	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	370					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CCTTTGACTCCATACATCCTA	0.393000													14	57					0	0	0.003163	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411838	105411838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105411838G>A	ENST00000333244.5	-	7	10069	c.9950C>T	c.(9949-9951)tCg>tTg	p.S3317L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3317						nucleus		p.S3317L(1)		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)			CGCCCTGTACGACGGCATCTT	0.617000													125	72					0	0	0.003610	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675131	40675131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40675131G>A	ENST00000416151.2	+	1	210	c.95G>A	c.(94-96)cGg>cAg	p.R32Q	KNSTRN_ENST00000448395.2_Missense_Mutation_p.R32Q|KNSTRN_ENST00000249776.8_Missense_Mutation_p.R32Q	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCTAGCTACCGGAAGTTTCTA	0.572000													36	46					0	0	0.006230	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914509	94914509	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94914509C>T	ENST00000334708.3	-	2	667	c.603G>A	c.(601-603)caG>caA	p.Q201Q	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	201					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGAACGTGTCCTGGCTGAACT	0.468000													42	98					0	0	0.001951	0	0
GLI3	2737	broad.mit.edu	37	7	42004228	42004228	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:42004228G>A	ENST00000395925.3	-	15	4527	c.4443C>T	c.(4441-4443)tcC>tcT	p.S1481S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1481					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGCACCTGGGGAAAGTAACT	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				6	30					0	0	0.001984	0	0
TRHDE	29953	broad.mit.edu	37	12	72866880	72866880	+	Missense_Mutation	SNP	G	G	A	rs147826771		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:72866880G>A	ENST00000261180.4	+	5	1465	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	457					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						TGTGTGGTGGGAAGACGTGTG	0.393000													46	159					0	0	0.003610	0	0
LRRC18	474354	broad.mit.edu	37	10	50122012	50122012	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50122012C>T	ENST00000374160.3	-	1	265	c.189G>A	c.(187-189)agG>agA	p.R63R	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.R63R|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	63						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CAGGGATCTTCCTGATAAGAT	0.527000													9	36					0	0	0.001368	0	0
ADAM29	11086	broad.mit.edu	37	4	175897017	175897017	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:175897017T>A	ENST00000359240.3	+	5	1011	c.341T>A	c.(340-342)gTt>gAt	p.V114D	ADAM29_ENST00000514159.1_Missense_Mutation_p.V114D|ADAM29_ENST00000404450.4_Missense_Mutation_p.V114D|ADAM29_ENST00000445694.1_Missense_Mutation_p.V114D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	114					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAATCCCTGGTTTCCCTCAGT	0.438000													14	44					0	0	0.004007	0	0
ERLEC1	27248	broad.mit.edu	37	2	54024892	54024892	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:54024892C>T	ENST00000185150.4	+	5	581	c.450C>T	c.(448-450)taC>taT	p.Y150Y	ERLEC1_ENST00000378239.5_Silent_p.Y150Y|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Silent_p.Y150Y	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	150	PRKCSH 1.				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ACGAGTACTACCTTGGGAATA	0.289000													34	73					0	0	0.007835	0	0
ME3	10873	broad.mit.edu	37	11	86160976	86160976	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86160976G>A	ENST00000543262.1	-	10	1412	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Silent_p.A362A|ME3_ENST00000359636.2_Silent_p.A362A	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	362					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TCTTTCTTGTGGCCTCTGCCT	0.517000													61	89					0	0	0.003610	0	0
STS	412	broad.mit.edu	37	X	7267936	7267936	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:7267936C>T	ENST00000217961.4	+	10	1606	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	462					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGGCACATCCATCTGGAAGG	0.473000									Ichthyosis				42	33					0	0	0.003610	0	0
PTGFRN	5738	broad.mit.edu	37	1	117527523	117527523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:117527523C>T	ENST00000393203.2	+	8	2536	c.2389C>T	c.(2389-2391)Cca>Tca	p.P797S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	797	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTCCGTGACTCCATGGGTGAA	0.532000													8	45					0	0	0.000673	0	0
EFR3A	23167	broad.mit.edu	37	8	133008666	133008666	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:133008666T>G	ENST00000254624.5	+	19	2304	c.2079T>G	c.(2077-2079)ctT>ctG	p.L693L	EFR3A_ENST00000334503.4_Silent_p.L693L|EFR3A_ENST00000519656.1_Silent_p.L657L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	693						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAGATCGACTTTCTAGAAGAA	0.308000													10	12					0	0	0.000978	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826485	124826485	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124826485G>A	ENST00000423114.2	-	10	1631	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Silent_p.F316F|SLC12A8_ENST00000469902.1_Silent_p.F515F|SLC12A8_ENST00000393469.4_Silent_p.F515F|SLC12A8_ENST00000314584.7_Silent_p.F268F			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	515					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCTCGACAGGGAAAGAAGGAG	0.557000													27	46					0	0	0.001512	0	0
SPINT2	10653	broad.mit.edu	37	19	38779819	38779819	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38779819T>C	ENST00000301244.7	+	4	814	c.379T>C	c.(379-381)Ttc>Ctc	p.F127L	SPINT2_ENST00000587090.1_Missense_Mutation_p.F77L|CTB-102L5.4_ENST00000591889.1_Silent_p.C4C|SPINT2_ENST00000454580.3_Missense_Mutation_p.F70L	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	127					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCGATATGTTCAACTATGA	0.557000													31	54					0	0	0.006999	0	0
MAP1A	4130	broad.mit.edu	37	15	43819762	43819762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43819762C>T	ENST00000382031.1	+	5	6836	c.6805C>T	c.(6805-6807)Cca>Tca	p.P2269S	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2031S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2031S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2031						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCTGACACTCCAACCTTCAG	0.607000													6	45					0	0	0.001168	0	0
FOXN3	1112	broad.mit.edu	37	14	89629013	89629013	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:89629013C>T	ENST00000345097.4	-	7	1334	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	FOXN3_ENST00000261302.5_Silent_p.K406K|FOXN3_ENST00000557258.1_Silent_p.K384K|FOXN3_ENST00000555353.1_Silent_p.K384K	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	406					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.K406N(1)|p.K384N(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGAGAATCCTTGGGCTCCT	0.647000													24	32					0	0	0.007291	0	0
UNC93A	54346	broad.mit.edu	37	6	167709555	167709555	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:167709555T>C	ENST00000230256.3	+	3	480	c.305T>C	c.(304-306)cTc>cCc	p.L102P	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.L102P	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	102						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTGCTGGGACTCGGGGCCGCC	0.567000													11	26					0	0	0.001368	0	0
DNAL1	83544	broad.mit.edu	37	14	74125602	74125602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74125602C>T	ENST00000553645.1	+	3	136	c.95C>T	c.(94-96)gCc>gTc	p.A32V	DNAL1_ENST00000540526.1_5'UTR|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_5'UTR|DNAL1_ENST00000554339.1_Intron	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	32										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		AAACTTTATGCCCAGATTCCC	0.413000													81	239					0	0	0.003610	0	0
SYMPK	8189	broad.mit.edu	37	19	46318830	46318830	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46318830C>T	ENST00000245934.7	-	27	4057	c.3813G>A	c.(3811-3813)aaG>aaA	p.K1271K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1271					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGCTGTTCCCCTTGGCCTCGG	0.667000													5	12					0	0	0.001984	0	0
HOXC11	3227	broad.mit.edu	37	12	54369011	54369011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:54369011G>A	ENST00000243082.4	+	2	847	c.733G>A	c.(733-735)Gat>Aat	p.D245N	HOXC11_ENST00000546378.1_Silent_p.Q243Q	NM_014212.3	NP_055027.1	O43248	HXC11_HUMAN	homeobox C11	0					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGAAATTCCAGATCCGGGAAC	0.587000			T	NUP98	AML								21	37					0	0	0.002780	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20484092	20484092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20484092C>T	ENST00000202677.6	-	35	5253	c.5111G>A	c.(5110-5112)gGg>gAg	p.G1704E		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1704	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGCCGTCTGCCCGGTGCTGCC	0.502000													9	20					0	0	0.004482	0	0
ZNF488	118738	broad.mit.edu	37	10	48371385	48371385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:48371385C>T	ENST00000395702.2	+	2	1080	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.R178C			Q96MN9	ZN488_HUMAN	zinc finger protein 488	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTGTCCTTTCGCCTAACGTC	0.592000													19	50					0	0	0.001523	0	0
ABCA2	20	broad.mit.edu	37	9	139917473	139917473	+	Silent	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139917473G>C	ENST00000265662.5	-	4	342	c.195C>G	c.(193-195)gcC>gcG	p.A65A	ABCA2_ENST00000341511.6_Silent_p.A65A|ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Silent_p.A64A			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	64					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGATGCCGGCAGACGTCA	0.657000													3	6					0	0	0.004672	0	0
CEL	1056	broad.mit.edu	37	9	135946607	135946607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135946607C>T	ENST00000372080.4	+	11	1743	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	CEL_ENST00000351304.7_Missense_Mutation_p.P507L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	573	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCGTGCCCCCCACGGGTGAC	0.771000													17	59					0	0	0.007413	0	0
NPTX2	4885	broad.mit.edu	37	7	98256592	98256592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98256592G>A	ENST00000265634.3	+	4	1169	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	335	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGGCACTGGGGAGAACCTG	0.642000													20	24					0	0	0.001882	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482000	37482000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37482000G>A	ENST00000374660.1	+	32	2809	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D785N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D785N|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	960						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGTCTCCTGATAATGATGG	0.294000													30	103					0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179639813	179639813	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179639813T>C	ENST00000589042.1	-	29	6849	c.6625A>G	c.(6625-6627)Aaa>Gaa	p.K2209E	TTN_ENST00000360870.5_Missense_Mutation_p.K2209E|TTN_ENST00000591111.1_Missense_Mutation_p.K2209E|TTN_ENST00000460472.2_Missense_Mutation_p.K2163E|TTN_ENST00000342175.6_Missense_Mutation_p.K2163E|TTN_ENST00000342992.6_Missense_Mutation_p.K2209E|TTN_ENST00000359218.5_Missense_Mutation_p.K2163E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1950	Ig-like 11.						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)			ATACCATCTTTATACCATTTC	0.393000													22	38					0	0	0.001523	0	0
TLN1	7094	broad.mit.edu	37	9	35707805	35707805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35707805G>A	ENST00000314888.9	-	35	4908	c.4555C>T	c.(4555-4557)Cct>Tct	p.P1519S	TLN1_ENST00000540444.1_Missense_Mutation_p.P1519S|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1519	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGGCAGTAGGATTGGTGGTA	0.537000													40	119					0	0	0.006999	0	0
PLCG2	5336	broad.mit.edu	37	16	81960689	81960689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81960689G>A	ENST00000359376.3	+	23	2634	c.2420G>A	c.(2419-2421)tGg>tAg	p.W807*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	807	SH3.				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						TTATCCAGGTGGAAAGGAGAC	0.532000													38	79					0	0	0.002852	0	0
RGS21	431704	broad.mit.edu	37	1	192335101	192335101	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:192335101A>T	ENST00000417209.2	+	5	480	c.306A>T	c.(304-306)gaA>gaT	p.E102D		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	102	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ATATTGCTGAACCAACACTCA	0.348000													32	74					0	0	0.005524	0	0
DDX52	11056	broad.mit.edu	37	17	35981555	35981555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35981555G>A	ENST00000349699.2	-	10	1281	c.1238C>T	c.(1237-1239)cCa>cTa	p.P413L	DDX52_ENST00000394367.3_Missense_Mutation_p.P305L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	413	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AAGAACAGGTGGATTGAAACC	0.323000													12	19					0	0	0.003163	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152020	11152020	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11152020A>G	ENST00000358026.2	+	31	4588	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1370G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1370G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1403G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1373G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1373G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1373G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1403G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1373G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1403					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCGAAGAGGAGGTCCGGCAG	0.622000			"""F, N, Mis"""		NSCLC								17	48					0	0	0.006122	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010789	62010789	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62010789T>G	ENST00000244926.3	+	2	182	c.84T>G	c.(82-84)gtT>gtG	p.V28V	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	28						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						CAGCTCTTGTTTCTGAGCTGT	0.433000													14	53					0	0	0.003163	0	0
AMOT	154796	broad.mit.edu	37	X	112048297	112048297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:112048297C>T	ENST00000371959.3	-	5	1653	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	AMOT_ENST00000371962.1_Missense_Mutation_p.E320K|AMOT_ENST00000371958.1_Missense_Mutation_p.E320K|AMOT_ENST00000524145.1_Missense_Mutation_p.E552K|AMOT_ENST00000304758.1_Missense_Mutation_p.E143K	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	552					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCAGCTTCTCCTTCTCACGC	0.507000													66	38					0	0	0.003610	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791010	133791010	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133791010C>T	ENST00000321016.8	-	18	2840	c.2610G>A	c.(2608-2610)aaG>aaA	p.K870K	IGSF9B_ENST00000533871.2_Silent_p.K870K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	870						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCGCCTGCTCTTCAGCGAGG	0.662000													22	61					0	0	0.003330	0	0
SPANXD	64648	broad.mit.edu	37	X	140786537	140786537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140786537C>T	ENST00000370515.3	-	1	359	c.26G>A	c.(25-27)gGg>gAg	p.G9E		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCTTCACCCCGCCGGCACT	0.502000													47	27					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	79181348	79181348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:79181348C>T	ENST00000554719.1	+	5	1282	c.791C>T	c.(790-792)tCc>tTc	p.S264F	NRXN3_ENST00000335750.5_Missense_Mutation_p.S264F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGTGTCAAGTCCTCCTGTTCA	0.552000													9	22					0	0	0.000673	0	0
GHR	2690	broad.mit.edu	37	5	42700047	42700047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:42700047G>A	ENST00000230882.4	+	6	751	c.561G>A	c.(559-561)tgG>tgA	p.W187*	GHR_ENST00000357703.3_Nonsense_Mutation_p.W165*|GHR_ENST00000537449.1_De_novo_Start_InFrame	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	187	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGAAAGGATGGATGGTTCTGG	0.383000													6	30					0	0	0.001168	0	0
GALNT6	11226	broad.mit.edu	37	12	51754511	51754511	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754511G>A	ENST00000543196.2	-	6	1366	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	GALNT6_ENST00000356317.3_Silent_p.S387S			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	387	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCACCCGGAAGGACATTTCCA	0.537000													16	50					0	0	0.001523	0	0
GRM3	2913	broad.mit.edu	37	7	86479837	86479837	+	Nonsense_Mutation	SNP	G	G	A	rs144976488		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86479837G>A	ENST00000439827.1	+	4	1647	c.1476G>A	c.(1474-1476)tgG>tgA	p.W492*	GRM3_ENST00000361669.2_Missense_Mutation_p.G848E|GRM3_ENST00000546348.1_Missense_Mutation_p.G440E|GRM3_ENST00000394720.2_Nonsense_Mutation_p.W490*|GRM3_ENST00000536043.1_Missense_Mutation_p.G720E			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane		p.G848E(2)		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)	AGTGTCAGTGGAACTGGGACC	0.478000													24	54					0	0	0.007291	0	0
TESK2	10420	broad.mit.edu	37	1	45887403	45887403	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45887403A>T	ENST00000372086.3	-	3	738	c.338T>A	c.(337-339)aTc>aAc	p.I113N	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Missense_Mutation_p.I113N|TESK2_ENST00000372084.1_Missense_Mutation_p.I113N|TESK2_ENST00000341771.6_Missense_Mutation_p.I113N|TESK2_ENST00000538496.1_Missense_Mutation_p.I30N	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	113	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TTACCTAAGGATGTTGGGATG	0.428000													37	122					0	0	0.003214	0	0
ODC1	4953	broad.mit.edu	37	2	10583694	10583694	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:10583694G>A	ENST00000234111.4	-	7	1098	c.588C>T	c.(586-588)ttC>ttT	p.F196F	ODC1_ENST00000405333.1_Silent_p.F196F	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	196					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTCCTACATGGAAGCTGGGGT	0.443000													29	49					0	0	0.001512	0	0
PMS2	5395	broad.mit.edu	37	7	6026544	6026544	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6026544G>A	ENST00000265849.7	-	11	1957	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000441476.2_Silent_p.L512L	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	618					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAAAGTCCAGGGGCACAACT	0.383000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				25	82					0	0	0.002780	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894423	10894423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10894423G>A	ENST00000283141.6	+	4	618	c.322G>A	c.(322-324)Gga>Aga	p.G108R	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	108						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AATTCGGCAGGGACTGATCCC	0.368000													16	79					0	0	0.001216	0	0
CNTN3	5067	broad.mit.edu	37	3	74351883	74351883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:74351883C>T	ENST00000263665.6	-	13	1771	c.1744G>A	c.(1744-1746)Ggg>Agg	p.G582R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	582	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGTCCACCCCCGTTTGCACC	0.403000													24	16					0	0	0.002299	0	0
PCGF1	84759	broad.mit.edu	37	2	74733311	74733311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74733311C>T	ENST00000233630.6	-	4	1332	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	141					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GACATACCTTCCCCAGTGGGC	0.517000													23	76					0	0	0.002096	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255455	15255455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15255455G>A	ENST00000378116.4	-	8	2138	c.2132C>T	c.(2131-2133)tCc>tTc	p.S711F		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	711						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCCATCCAAGGAGACGAACCA	0.552000													27	58					0	0	0.004656	0	0
OR5A2	219981	broad.mit.edu	37	11	59189524	59189524	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59189524G>A	ENST00000302040.4	-	1	925	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CTTTCCTCATGGCATTTTTAA	0.458000													23	56					0	0	0.001882	0	0
AMT	275	broad.mit.edu	37	3	49455266	49455266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49455266C>T	ENST00000273588.3	-	8	1320	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AMT_ENST00000458307.2_Missense_Mutation_p.E296K|AMT_ENST00000546031.1_Missense_Mutation_p.E243K|AMT_ENST00000395338.2_Missense_Mutation_p.E340K|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000538581.1_Missense_Mutation_p.E284K	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	340					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TTGGTACCCTCCATGTTCAGG	0.622000													22	52					0	0	0.002299	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363077	133363077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:133363077C>T	ENST00000204726.3	-	15	3529	c.2971G>A	c.(2971-2973)Gag>Aag	p.E991K	GOLGA3_ENST00000450791.2_Missense_Mutation_p.E991K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E991K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E991K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E991K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	991					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATCTCCTTCTGGGCG	0.632000													6	16					0	0	0.003080	0	0
DOCK8	81704	broad.mit.edu	37	9	432316	432316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:432316C>T	ENST00000432829.2	+	37	4889	c.4573C>T	c.(4573-4575)Ccc>Tcc	p.P1525S	DOCK8_ENST00000382329.1_Missense_Mutation_p.P1060S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P1493S|DOCK8_ENST00000453981.1_Missense_Mutation_p.P1593S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1593	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GACTCCTTTTCCCACCCAGGT	0.428000													18	71					0	0	0.002299	0	0
ZG16B	124220	broad.mit.edu	37	16	2881991	2881991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2881991C>T	ENST00000382280.3	+	4	537	c.458C>T	c.(457-459)tCc>tTc	p.S153F	ZG16B_ENST00000572863.1_Missense_Mutation_p.S123F	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	153						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GGCCAGATCTCCTCTGCCTAC	0.507000													25	47					0	0	0.003954	0	0
BAG6	7917	broad.mit.edu	37	6	31608608	31608608	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31608608G>A	ENST00000404765.2	-	21	3184	c.2895C>T	c.(2893-2895)gcC>gcT	p.A965A	BAG6_ENST00000439687.2_Silent_p.A803A|BAG6_ENST00000211379.5_Silent_p.A929A|BAG6_ENST00000375964.6_Silent_p.A935A|BAG6_ENST00000362049.6_Silent_p.A929A|BAG6_ENST00000375976.4_Silent_p.A929A			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	935					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						ATCTGAGAATGGCATCAGGGC	0.572000													89	185					0	0	0.003610	0	0
TRDV1	28518	broad.mit.edu	37	14	22564765	22564765	+	RNA	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22564765T>C	ENST00000390452.2	+	0	234																											TTCGCCAGGGTTCTGATGAAC	0.413000													23	60					0	0	0.003330	0	0
SRCAP	10847	broad.mit.edu	37	16	30712165	30712165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30712165C>T	ENST00000262518.4	+	3	405	c.20C>T	c.(19-21)cCt>cTt	p.P7L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P7L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P7L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	7					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCCCCTCCCCTGCTCACCCT	0.567000													11	16					0	0	0.000978	0	0
BCMO1	53630	broad.mit.edu	37	16	81320998	81320998	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81320998G>A	ENST00000258168.2	+	10	1862	c.1401G>A	c.(1399-1401)aaG>aaA	p.K467K	BCMO1_ENST00000425577.2_Silent_p.K398K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	467					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAGGTGCCAAGGATGAGGATG	0.532000													14	34					0	0	0.002450	0	0
ZNF768	79724	broad.mit.edu	37	16	30536501	30536501	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30536501G>A	ENST00000380412.5	-	2	1135	c.960C>T	c.(958-960)ccC>ccT	p.P320P	ZNF768_ENST00000562803.1_Silent_p.P289P	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	320					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGCCGCAACGGGGACATTTGT	0.602000													6	16					0	0	0.001168	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641266	145641266	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145641266C>T	ENST00000276833.5	-	1	630	c.327G>A	c.(325-327)aaG>aaA	p.K109K	SLC39A4_ENST00000301305.3_Silent_p.K134K	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	134						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGGTCAGGGCCTTGGGGCTCT	0.701000													3	7					0	0	0.000248	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559084	140559084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140559084C>T	ENST00000239444.2	+	1	1714	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.657000													27	31					0	0	0.006320	0	0
TLN1	7094	broad.mit.edu	37	9	35705810	35705810	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35705810G>A	ENST00000314888.9	-	42	5903	c.5550C>T	c.(5548-5550)ttC>ttT	p.F1850F	TLN1_ENST00000540444.1_Silent_p.F1784F|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1850	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAATCCACGAAGGAACCTT	0.557000													56	89					0	0	0.003610	0	0
AKAP6	9472	broad.mit.edu	37	14	33015221	33015221	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:33015221G>A	ENST00000280979.4	+	4	1532	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	AKAP6_ENST00000557354.1_Silent_p.Q454Q|AKAP6_ENST00000557272.1_Silent_p.Q454Q	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	454					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCCAGCCAGTCTTATGAGT	0.468000													74	192					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78400637	78400637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:78400637C>T	ENST00000397909.2	+	8	1492	c.1319C>T	c.(1318-1320)cCc>cTc	p.P440L	NAV3_ENST00000536525.2_Missense_Mutation_p.P440L|NAV3_ENST00000228327.6_Missense_Mutation_p.P440L|NAV3_ENST00000266692.7_Missense_Mutation_p.P440L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	440						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATAGCAGTCCCAAAGTGTCA	0.428000										HNSCC(70;0.22)			25	80					0	0	0.003330	0	0
RGS6	9628	broad.mit.edu	37	14	72941367	72941367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:72941367G>A	ENST00000553530.1	+	10	860	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	RGS6_ENST00000407322.4_Missense_Mutation_p.R218Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R79Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R149Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R218Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R218Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R218Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R218Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R218Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R218Q|RGS6_ENST00000404301.2_Missense_Mutation_p.R218Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R218Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	218					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGGATATCCGAAAATGTCGA	0.363000													13	27					0	0	0.004007	0	0
MEP1B	4225	broad.mit.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797058C>T	ENST00000269202.6	+	13	1911	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	MEP1B_ENST00000581447.1_Nonsense_Mutation_p.R622*	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	622	EGF-like.				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						CTGCACTGTTCGAGATGGCAA	0.398000													31	48					0	0	0.002445	0	0
DMBT1	1755	broad.mit.edu	37	10	124389817	124389817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124389817C>T	ENST00000368909.3	+	45	5555	c.5449C>T	c.(5449-5451)Cat>Tat	p.H1817Y	DMBT1_ENST00000368956.2_Missense_Mutation_p.H1189Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1807Y|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1817Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.H1189Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.H537Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1807Y	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1817	CUB 1.				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)				GGAGGCACACCATAACTGCAG	0.373000													18	39					0	0	0.007413	0	0
OOEP	441161	broad.mit.edu	37	6	74079487	74079487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:74079487G>A	ENST00000370359.5	-	1	28	c.29C>T	c.(28-30)tCc>tTc	p.S10F	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	10						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCCCGCTGGGACTCAGCGGC	0.662000													22	57					0	0	0.004656	0	0
ITGA1	3672	broad.mit.edu	37	5	52227900	52227900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52227900C>T	ENST00000282588.6	+	22	3253	c.2795C>T	c.(2794-2796)aCc>aTc	p.T932I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	932					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTCCTGAAACCCTTTCTGAT	0.348000													13	41					0	0	0.003163	0	0
OR10G8	219869	broad.mit.edu	37	11	123900559	123900559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123900559C>T	ENST00000431524.1	+	1	263	c.230C>T	c.(229-231)cCc>cTc	p.P77L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	77					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)		GTCACGGTGCCCAAATTGCTG	0.527000													22	55					0	0	0.001882	0	0
KRT36	8689	broad.mit.edu	37	17	39646091	39646091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39646091G>A	ENST00000328119.6	-	1	25	c.26C>T	c.(25-27)aCc>aTc	p.T9I	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	9	Head.					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)				AGTGGAGAAGGTAGGGGTGCA	0.592000													11	31					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57325417	57325417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57325417C>T	ENST00000326441.9	-	10	4756	c.4393G>A	c.(4393-4395)Gct>Act	p.A1465T	PEG3_ENST00000423103.2_Missense_Mutation_p.A1465T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1341T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1339T|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1465	Glu-rich.				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)		GGCTCTTCAGCTCTTTCTTCT	0.542000													26	77					0	0	0.007291	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139205	126139205	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126139205G>A	ENST00000299308.3	+	9	3194	c.3186G>A	c.(3184-3186)ggG>ggA	p.G1062G	TMEM132B_ENST00000535886.1_Silent_p.G574G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062						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)		TGGGGCTGGGGGATTCACAGG	0.458000													31	53					0	0	0.003755	0	0
DNAH2	146754	broad.mit.edu	37	17	7689558	7689558	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7689558C>T	ENST00000572933.1	+	40	7706	c.6246C>T	c.(6244-6246)atC>atT	p.I2082I	DNAH2_ENST00000389173.2_Silent_p.I2082I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2082	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCACCATGATCGTGGGCTGCA	0.572000													12	31					0	0	0.004656	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589364	138589364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138589364G>A	ENST00000298466.5	-	4	515	c.455C>T	c.(454-456)tCc>tTc	p.S152F	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S152F	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	152					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AGTCCCGCTGGACGCTCCCGT	0.617000													10	25					0	0	0.000673	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29906686	29906686	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29906686G>A	ENST00000308713.5	-	5	1274	c.747C>T	c.(745-747)tcC>tcT	p.S249S	SEZ6L2_ENST00000350527.3_Silent_p.S179S|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Silent_p.S205S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	249	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCCAAGCATGGATGAGTTGG	0.632000													30	70					0	0	0.001786	0	0
KCNF1	3754	broad.mit.edu	37	2	11053984	11053984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11053984C>T	ENST00000295082.1	+	1	1922	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	478						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCTTCATCCCCCTCCTGAC	0.662000													9	19					0	0	0.006214	0	0
GPR37	2861	broad.mit.edu	37	7	124387061	124387061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:124387061G>A	ENST00000303921.2	-	2	2010	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	454						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAAGCGTGGGCAAACAAAAG	0.468000													19	38					0	0	0.007413	0	0
SLC14A1	6563	broad.mit.edu	37	18	43310265	43310265	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:43310265G>A	ENST00000436407.3	+	2	695	c.147_splice	c.e2-1	p.E50_splice	SLC14A1_ENST00000415427.3_Splice_Site_p.E50_splice|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_5'UTR|SLC14A1_ENST00000502059.2_Intron|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000321925.4_5'UTR	NM_001146037.1	NP_001139509.1	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	0						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCCCTCAAGGAGCCAGAGGA	0.517000													12	29					0	0	0.001855	0	0
NME8	51314	broad.mit.edu	37	7	37890317	37890317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37890317G>A	ENST00000199447.4	+	5	550	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	NME8_ENST00000440017.1_Missense_Mutation_p.E60K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	60	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAACGAAGACGAAATTCTGCA	0.323000													30	70					0	0	0.001512	0	0
IMPACT	55364	broad.mit.edu	37	18	22023081	22023081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:22023081C>T	ENST00000284202.4	+	7	700	c.559C>T	c.(559-561)Cag>Tag	p.Q187*		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	187										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AAGTACTTTTCAGGCACACTT	0.343000													31	77					0	0	0.003271	0	0
LRP1B	53353	broad.mit.edu	37	2	141259324	141259324	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141259324T>A	ENST00000389484.3	-	55	9753	c.8782A>T	c.(8782-8784)Aat>Tat	p.N2928Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2928	EGF-like 6.				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)		AAACATTCATTTATATGGCAG	0.408000										TSP Lung(27;0.18)			12	49					0	0	0.001368	0	0
MEP1B	4225	broad.mit.edu	37	18	29790660	29790660	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29790660C>T	ENST00000269202.6	+	10	1163	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	MEP1B_ENST00000581447.1_Silent_p.T372T	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	372	MAM.				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						GCAATTTAACCCTTGTGGAAG	0.348000													34	81					0	0	0.002836	0	0
CADM3	57863	broad.mit.edu	37	1	159166791	159166791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159166791G>A	ENST00000368125.4	+	7	1050	c.893G>A	c.(892-894)gGc>gAc	p.G298D	CADM3_ENST00000368124.4_Missense_Mutation_p.G332D|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	298	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGCACCTACGGCTGCACAGCC	0.537000													17	36					0	0	0.007413	0	0
USF1	7391	broad.mit.edu	37	1	161012647	161012647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161012647C>T	ENST00000368021.3	-	3	238	c.34G>A	c.(34-36)Gag>Aag	p.E12K	USF1_ENST00000435396.1_5'UTR|USF1_ENST00000368019.1_Missense_Mutation_p.E12K|USF1_ENST00000368020.1_Missense_Mutation_p.E12K	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	12					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACTGTCCCCTCTTCCGTTTCA	0.488000													41	73					0	0	0.003214	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247813	179247813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179247813C>T	ENST00000190611.4	+	17	2060	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	OSBPL6_ENST00000315022.2_Missense_Mutation_p.P566S|OSBPL6_ENST00000392505.2_Missense_Mutation_p.P587S|OSBPL6_ENST00000359685.3_Missense_Mutation_p.P526S|OSBPL6_ENST00000409631.1_Missense_Mutation_p.P526S|OSBPL6_ENST00000409045.3_Missense_Mutation_p.P531S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	562					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)			CCTGCCAGCTCCTTGTCCTGA	0.507000													29	67					0	0	0.001786	0	0
RBM47	54502	broad.mit.edu	37	4	40427944	40427944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:40427944G>A	ENST00000319592.4	-	6	2261	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	RBM47_ENST00000381795.6_Missense_Mutation_p.P518S|RBM47_ENST00000514014.1_Missense_Mutation_p.P549S|RBM47_ENST00000295971.7_Missense_Mutation_p.P587S|RBM47_ENST00000381793.2_Missense_Mutation_p.P587S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	587	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGACGTCGGGGATGGGGACC	0.552000													18	50					0	0	0.001216	0	0
DYSF	8291	broad.mit.edu	37	2	71825746	71825746	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71825746G>A	ENST00000258104.3	+	33	3850	c.3573G>A	c.(3571-3573)gtG>gtA	p.V1191V	DYSF_ENST00000410041.1_Silent_p.V1209V|DYSF_ENST00000429174.2_Silent_p.V1191V|DYSF_ENST00000409744.1_Silent_p.V1178V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.V1209V|DYSF_ENST00000413539.2_Silent_p.V1222V|DYSF_ENST00000409651.1_Silent_p.V1223V|DYSF_ENST00000409366.1_Silent_p.V1192V|DYSF_ENST00000409762.1_Silent_p.V1208V|DYSF_ENST00000409582.3_Silent_p.V1208V|DYSF_ENST00000394120.2_Silent_p.V1192V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1191	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGTGGTGGTGAAGAACACCC	0.607000													14	19					0	0	0.004990	0	0
CCDC88C	440193	broad.mit.edu	37	14	91739898	91739898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91739898C>T	ENST00000389857.6	-	30	5244	c.5158G>A	c.(5158-5160)Gaa>Aaa	p.E1720K	CCDC88C_ENST00000331194.7_Missense_Mutation_p.E244K	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1720					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGGCCCCTTCTTTCTTGGCA	0.637000													10	32					0	0	0.000978	0	0
SMAD9	4093	broad.mit.edu	37	13	37453792	37453792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:37453792G>A	ENST00000379826.4	-	2	377	c.35C>T	c.(34-36)tCc>tTc	p.S12F	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Missense_Mutation_p.S12F|SMAD9_ENST00000399275.2_Missense_Mutation_p.S12F	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	12					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCTGGTGAAGGAGAAGAGGGA	0.597000													13	33					0	0	0.003163	0	0
CPNE3	8895	broad.mit.edu	37	8	87570629	87570629	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87570629G>A	ENST00000521271.1	+	17	1767	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q	CPNE3_ENST00000198765.4_Silent_p.Q535Q	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	535					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CGAAACAACAGAAGCAGTGAC	0.473000													20	52					0	0	0.003330	0	0
FMO3	2328	broad.mit.edu	37	1	171083441	171083441	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171083441C>T	ENST00000367755.4	+	7	1233	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	FMO3_ENST00000392085.2_Silent_p.S374S|FMO3_ENST00000542847.1_Silent_p.S354S|FMO3_ENST00000538429.1_Silent_p.S311S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	374					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGTCCAGTCCCTTGGGGCTG	0.438000													18	29					0	0	0.002299	0	0
CCDC9	26093	broad.mit.edu	37	19	47773840	47773840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47773840C>T	ENST00000221922.6	+	10	1202	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	327										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCCGAAGCCCCCTACTTTT	0.652000													11	55					0	0	0.002450	0	0
SCN4A	6329	broad.mit.edu	37	17	62034811	62034811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034811G>A	ENST00000435607.1	-	13	2163	c.2087C>T	c.(2086-2088)tCa>tTa	p.S696L	SCN4A_ENST00000578147.1_Missense_Mutation_p.S696L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	696					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGCCCCCACTGAATTGCCAAT	0.577000													7	16					0	0	0.001984	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64693246	64693246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64693246C>T	ENST00000164133.2	+	2	662	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	14					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCCCACTAGCCCCTCCTCCCC	0.721000													7	5					0	0	0.001984	0	0
CRIM1	51232	broad.mit.edu	37	2	36774301	36774301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:36774301G>A	ENST00000280527.2	+	16	3288	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	974					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGCTGGTATCGAACACCAACT	0.368000													20	50					0	0	0.002299	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011718	27011718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27011718C>T	ENST00000314616.6	+	18	2627	c.2344C>T	c.(2344-2346)Ctc>Ttc	p.L782F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.L782F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	782					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATTCGAGTCCTCGGCATTGC	0.478000													16	53					0	0	0.006122	0	0
FAM135B	51059	broad.mit.edu	37	8	139189659	139189659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139189659C>T	ENST00000395297.1	-	11	1204	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	345								p.R345Q(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAAAACCTTCGGACCTGCAG	0.378000										HNSCC(54;0.14)			7	15					0	0	0.004482	0	0
MIR512-2	574459	broad.mit.edu	37	19	54172485	54172485	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54172485G>A	ENST00000384912.1	+	0	75					NR_030180.1|NR_030181.1																						TCATAGCTGAGGTCCAATGAC	0.567000													23	36					0	0	0.002096	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341141	130341141	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:130341141C>T	ENST00000299164.2	+	7	1941	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	647	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S647S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACTCCACCTCCGTCTGTGTCC	0.587000													9	20					0	0	0.004482	0	0
CFHR4	10877	broad.mit.edu	37	1	196883689	196883689	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:196883689C>T	ENST00000367416.2	+	8	1379	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	CFHR4_ENST00000251424.4_Silent_p.L168L|CFHR4_ENST00000367418.1_Silent_p.L168L|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGTTTAAGCTCCATGACACAT	0.403000													13	42					0	0	0.001855	0	0
KCNC3	3748	broad.mit.edu	37	19	50827210	50827210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50827210G>A	ENST00000376959.2	-	2	1163	c.1000C>T	c.(1000-1002)Ccg>Tcg	p.P334S	KCNC3_ENST00000477616.1_Missense_Mutation_p.P334S|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	334					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		ATGTTCTCCGGAGGTGCCCCG	0.597000													10	32					0	0	0.006214	0	0
MTUS2	23281	broad.mit.edu	37	13	29599898	29599898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29599898G>A	ENST00000431530.3	+	1	1151	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	355						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						AGCACACCCGGAAGCCACCGA	0.577000													4	24					0	0	0.000248	0	0
IKZF1	10320	broad.mit.edu	37	7	50467663	50467663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50467663G>A	ENST00000331340.3	+	8	1053	c.898G>A	c.(898-900)Gag>Aag	p.E300K	IKZF1_ENST00000439701.1_Missense_Mutation_p.E258K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E70K|IKZF1_ENST00000438033.1_Missense_Mutation_p.E213K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E157K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.E213K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E213K|IKZF1_ENST00000359197.5_Missense_Mutation_p.E258K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	300					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCCAGCTACGAGAAGGAGAA	0.632000			"""D,T"""	BCL6	"""ALL, DLBCL"""								5	10					0	0	0.001984	0	0
SLC6A5	9152	broad.mit.edu	37	11	20648366	20648366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:20648366G>A	ENST00000525748.1	+	8	1646	c.1373G>A	c.(1372-1374)tGg>tAg	p.W458*		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	458					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACACCCAAGTGGGAGAAACTC	0.562000													21	48					0	0	0.005443	0	0
SYNE2	23224	broad.mit.edu	37	14	64476794	64476794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64476794C>T	ENST00000358025.3	+	32	4918	c.4688C>T	c.(4687-4689)tCg>tTg	p.S1563L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S1563L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1563L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1563					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGCAGGCTTCGTACATGGGA	0.428000													9	21					0	0	0.000673	0	0
SIM1	6492	broad.mit.edu	37	6	100895251	100895251	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:100895251G>A	ENST00000369208.3	-	9	1673	c.891C>T	c.(889-891)ttC>ttT	p.F297F	SIM1_ENST00000262901.4_Silent_p.F297F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	297	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTTTCGCCAGGAACCTGTAGT	0.592000													8	31					0	0	0.006214	0	0
FGFR1	2260	broad.mit.edu	37	8	38277080	38277080	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38277080T>C	ENST00000447712.2	-	9	2196	c.1255A>G	c.(1255-1257)Aag>Gag	p.K419E	FGFR1_ENST00000425967.3_Missense_Mutation_p.K450E|FGFR1_ENST00000341462.5_Missense_Mutation_p.K419E|FGFR1_ENST00000356207.5_Missense_Mutation_p.K330E|FGFR1_ENST00000532791.1_Missense_Mutation_p.K419E|FGFR1_ENST00000326324.6_Missense_Mutation_p.K328E|FGFR1_ENST00000335922.5_Missense_Mutation_p.K411E|FGFR1_ENST00000397108.4_Missense_Mutation_p.K417E|FGFR1_ENST00000397113.2_Missense_Mutation_p.K417E|FGFR1_ENST00000397103.1_Missense_Mutation_p.K330E|FGFR1_ENST00000397091.5_Missense_Mutation_p.K417E	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	419					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GGGATGCTCTTGGCCAGCTTG	0.552000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						13	32					0	0	0.002450	0	0
OR4D6	219983	broad.mit.edu	37	11	59224522	59224522	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59224522T>G	ENST00000300127.2	+	1	112	c.89T>G	c.(88-90)gTc>gGc	p.V30G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TTGTTTGTGGTCTTCTTTGCT	0.463000													46	92					0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28543161	28543161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28543161C>T	ENST00000452236.2	-	3	1938	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	441	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E441K(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAAAATTCCCTCCCATTG	0.418000													17	36					0	0	0.004990	0	0
CCDC60	160777	broad.mit.edu	37	12	119926649	119926649	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119926649G>C	ENST00000327554.2	+	5	1000	c.535G>C	c.(535-537)Gtg>Ctg	p.V179L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	179										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CATGAAGCCTGTGATCACCTG	0.547000													19	36					0	0	0.001523	0	0
ZNF560	147741	broad.mit.edu	37	19	9581123	9581123	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9581123C>T	ENST00000301480.4	-	7	606	c.393G>A	c.(391-393)caG>caA	p.Q131Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	131	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACAGGTTTCTCTGAGCTGGGT	0.478000													25	55					0	0	0.003330	0	0
RPAP1	26015	broad.mit.edu	37	15	41819424	41819424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41819424G>A	ENST00000304330.4	-	13	1803	c.1687C>T	c.(1687-1689)Ctt>Ttt	p.L563F	RPAP1_ENST00000561603.1_Missense_Mutation_p.L563F	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	563						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGATGTCAAGGACCACCGCA	0.607000													8	41					0	0	0.006214	0	0
FRS3	10817	broad.mit.edu	37	6	41738731	41738731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41738731G>A	ENST00000373018.3	-	7	1356	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FRS3_ENST00000259748.2_Missense_Mutation_p.P369S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCTGCAGTGGGGTCTCGTCC	0.667000													20	53					0	0	0.002299	0	0
HPS5	11234	broad.mit.edu	37	11	18327728	18327728	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18327728A>G	ENST00000396253.3	-	6	898	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L	HPS5_ENST00000531848.1_Missense_Mutation_p.F146L|HPS5_ENST00000438420.2_Missense_Mutation_p.F146L|HPS5_ENST00000349215.3_Missense_Mutation_p.F260L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	260						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTTCTTGAACTGATGTGTA	0.453000									Hermansky-Pudlak syndrome				32	64					0	0	0.005524	0	0
KL	9365	broad.mit.edu	37	13	33635816	33635816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:33635816C>T	ENST00000380099.3	+	4	2608	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	867	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGAGACCTCCCCATGTACATA	0.517000													23	52					0	0	0.001882	0	0
PCGF1	84759	broad.mit.edu	37	2	74733312	74733312	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74733312C>T	ENST00000233630.6	-	4	1331	c.420G>A	c.(418-420)ggG>ggA	p.G140G	PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	140					histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ACATACCTTCCCCAGTGGGCT	0.512000													23	76					0	0	0.002096	0	0
CDX2	1045	broad.mit.edu	37	13	28537473	28537473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28537473C>T	ENST00000381020.7	-	3	2853	c.721G>A	c.(721-723)Gag>Aag	p.E241K	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	241					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ATTTTCCTCTCCTTTGCTCTG	0.532000			T	ETV6	AML								3	9					0	0	0.004672	0	0
LIMK2	3985	broad.mit.edu	37	22	31658189	31658189	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:31658189C>A	ENST00000331728.4	+	6	735	c.621C>A	c.(619-621)atC>atA	p.I207I	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_Silent_p.I129I|LIMK2_ENST00000340552.4_Silent_p.I186I|LIMK2_ENST00000333611.4_Silent_p.I186I	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	207	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCCTGGAGATCAATGGGACCC	0.552000													15	60					3.32936e-07	5.19676e-07	0.006122	1	0
TMCO3	55002	broad.mit.edu	37	13	114152835	114152835	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114152835C>T	ENST00000434316.2	+	3	982	c.624_splice	c.e3+1	p.S208_splice	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Splice_Site_p.S208_splice	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	208						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACAATAAATCAGTAAGCGTT	0.408000													15	43					0	0	0.003163	0	0
ADCY5	111	broad.mit.edu	37	3	123071390	123071390	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123071390G>A	ENST00000462833.1	-	2	2385	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ADCY5_ENST00000309879.5_Silent_p.I41I|ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Silent_p.I24I	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	391					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGACACCCACGATGTTGGTGC	0.587000													21	36					0	0	0.003330	0	0
DENND1A	57706	broad.mit.edu	37	9	126439053	126439053	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:126439053G>A	ENST00000373624.2	-	6	519	c.318C>T	c.(316-318)ttC>ttT	p.F106F	DENND1A_ENST00000394215.2_Silent_p.F76F|DENND1A_ENST00000373618.1_Silent_p.F74F|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_Silent_p.F106F|DENND1A_ENST00000394219.3_Silent_p.F74F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	106	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAAATACCTCGAACCAGGGGA	0.333000													24	42					0	0	0.002096	0	0
KIF12	113220	broad.mit.edu	37	9	116854257	116854257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116854257C>T	ENST00000374118.3	-	16	1663	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	609	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTCTCTGGGCCAGGTTTGGA	0.672000													10	19					0	0	0.000673	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525469	38525469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:38525469C>T	ENST00000378482.2	+	2	353	c.176C>T	c.(175-177)cCc>cTc	p.P59L	TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Missense_Mutation_p.P33L|TSPAN7_ENST00000422612.2_Missense_Mutation_p.P85L|TSPAN7_ENST00000286824.6_Missense_Mutation_p.P76L|TM4SF2_ENST00000465127.1_Missense_Mutation_p.P89L	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	59					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						ACAAATGCTCCCTATGTGCTC	0.502000													33	13					0	0	0.002836	0	0
ATP2A3	489	broad.mit.edu	37	17	3851089	3851089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3851089C>T	ENST00000309890.7	-	8	841	c.691G>A	c.(691-693)Gag>Aag	p.E231K	ATP2A3_ENST00000397041.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.E231K|ATP2A3_ENST00000352011.3_Missense_Mutation_p.E231K	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	231					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TTGCCCAGCTCCGTGTGCAGG	0.667000													10	36					0	0	0.000978	0	0
C6	729	broad.mit.edu	37	5	41181501	41181501	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41181501T>A	ENST00000263413.3	-	7	1151	c.887A>T	c.(886-888)aAt>aTt	p.N296I	C6_ENST00000337836.5_Missense_Mutation_p.N296I|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	296	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAAGGCAGAATTATGGTTGAT	0.353000													32	76					0	0	0.004878	0	0
CPAMD8	27151	broad.mit.edu	37	19	17115153	17115153	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17115153C>T	ENST00000443236.1	-	8	775	c.744G>A	c.(742-744)ttG>ttA	p.L248L	CPAMD8_ENST00000388925.4_Silent_p.L201L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	201						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACCATTCTCCCAACACAGGCT	0.488000													16	46					0	0	0.006122	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454696	96454696	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96454696C>T	ENST00000285979.6	+	4	703	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP2C18_ENST00000339022.5_Silent_p.F168F|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ATCCCACTTTCATCCTGGGCT	0.333000													25	92					0	0	0.002445	0	0
NLRP7	199713	broad.mit.edu	37	19	55451034	55451034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451034G>A	ENST00000446217.1	-	6	1639	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	NLRP7_ENST00000328092.5_Missense_Mutation_p.P385S|NLRP7_ENST00000588756.1_Missense_Mutation_p.P385S|NLRP7_ENST00000590030.1_Missense_Mutation_p.P385S|NLRP7_ENST00000340844.2_Missense_Mutation_p.P385S|NLRP7_ENST00000448121.2_Missense_Mutation_p.P385S|NLRP7_ENST00000592784.1_Missense_Mutation_p.P385S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	385	NACHT.						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)		AGGCAGGTGGGGACCGGGTCC	0.701000													9	15					0	0	0.000978	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658792	50658792	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50658792G>A	ENST00000439308.2	-	16	4488	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.P1332P	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1332					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCCCGAGCTGGGGGAGGACA	0.667000													8	23					0	0	0.004482	0	0
FCRL5	83416	broad.mit.edu	37	1	157514284	157514284	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157514284C>T	ENST00000361835.3	-	5	769	c.612G>A	c.(610-612)ggG>ggA	p.G204G	FCRL5_ENST00000356953.4_Silent_p.G204G|FCRL5_ENST00000368190.3_Silent_p.G204G|FCRL5_ENST00000368189.3_Silent_p.G204G|FCRL5_ENST00000368191.3_Silent_p.G119G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	204	Ig-like C2-type 2.					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)				TCACTGGGTTCCCGCTGATGG	0.562000													23	76					0	0	0.003954	0	0
GYPB	2994	broad.mit.edu	37	4	144922363	144922363	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:144922363C>T	ENST00000283126.7	-	2	166	c.111G>A	c.(109-111)aaG>aaA	p.K37K	RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000502664.1_Silent_p.K37K|GYPB_ENST00000513128.1_Intron|GYPB_ENST00000429670.2_Silent_p.K37K					glycophorin B (MNS blood group)									p.K37N(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGATGTAACTCTTTGTGACTG	0.368000													20	119					0	0	0.002780	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062874	76062874	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:76062874G>A	ENST00000260045.3	-	5	1425	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	440					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						GTGCTTGCAGGAGTTCCACTA	0.383000													19	46					0	0	0.004656	0	0
POF1B	79983	broad.mit.edu	37	X	84634333	84634333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84634333G>A	ENST00000262753.4	-	2	272	c.127C>T	c.(127-129)Cca>Tca	p.P43S	POF1B_ENST00000373145.3_Missense_Mutation_p.P43S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	43							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTTTTTCTGGAGGCTGCTGG	0.577000													7	2					0	0	0.003080	0	0
OR13J1	392309	broad.mit.edu	37	9	35869612	35869612	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35869612T>G	ENST00000377981.2	-	1	849	c.787A>C	c.(787-789)Aag>Cag	p.K263Q		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTTACTCTTGGGCTTCAAG	0.542000													9	38					0	0	0.001368	0	0
NLRP8	126205	broad.mit.edu	37	19	56467089	56467089	+	Missense_Mutation	SNP	G	G	A	rs149835864		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56467089G>A	ENST00000291971.3	+	3	1736	c.1665G>A	c.(1663-1665)atG>atA	p.M555I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M555I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	555						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTCTCACATGGGACTTTTCT	0.468000													19	33					0	0	0.006122	0	0
ACAN	176	broad.mit.edu	37	15	89382250	89382250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89382250G>A	ENST00000439576.2	+	3	801	c.427G>A	c.(427-429)Gag>Aag	p.E143K	ACAN_ENST00000561243.1_Missense_Mutation_p.E143K|ACAN_ENST00000558207.1_Missense_Mutation_p.E143K|ACAN_ENST00000559004.1_Missense_Mutation_p.E143K|ACAN_ENST00000352105.7_Missense_Mutation_p.E143K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	143					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGACAGCGAGGCCACCCT	0.622000													26	46					0	0	0.007291	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302009	110302009	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110302009C>T	ENST00000369805.3	-	5	485	c.255_splice	c.e5-1	p.E86_splice	EPS8L3_ENST00000361852.4_Splice_Site_p.E86_splice|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Splice_Site_p.E86_splice	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	86						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCCAGCTCCTCCTGGGCCAGG	0.592000													19	56					0	0	0.002299	0	0
KRT86	3892	broad.mit.edu	37	12	52699158	52699158	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52699158G>A	ENST00000293525.5	+	5	922	c.870G>A	c.(868-870)cgG>cgA	p.R290R	KRT86_ENST00000544024.1_Silent_p.R290R|KRT86_ENST00000423955.2_Silent_p.R290R	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	290	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCGTAGCCGGGCTGAGGCCG	0.552000													17	42					0	0	0.004007	0	0
INADL	10207	broad.mit.edu	37	1	62237272	62237272	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62237272C>T	ENST00000371158.2	+	6	808	c.694C>T	c.(694-696)Cta>Tta	p.L232L	INADL_ENST00000316485.6_Silent_p.L232L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	232					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTAGCAGCCTAAATGATAC	0.373000													5	26					0	0	0.000602	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974488	129974488	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:129974488C>T	ENST00000259351.5	+	15	1593	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	RALGPS1_ENST00000373434.1_Silent_p.T400T|RALGPS1_ENST00000424082.2_Silent_p.T400T	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	442	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GAAGAAAAACCCTGCTCAAGG	0.602000													5	20					0	0	0.001984	0	0
C8orf31	286122	broad.mit.edu	37	8	144130644	144130644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144130644G>A	ENST00000395172.1	+	5	726	c.374G>A	c.(373-375)gGg>gAg	p.G125E	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	125										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					cggcaccacgggaaccacctt	0.502000													16	45					0	0	0.004990	0	0
PRPF4	9128	broad.mit.edu	37	9	116045700	116045700	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116045700C>A	ENST00000374199.4	+	6	993	c.592C>A	c.(592-594)Cat>Aat	p.H198N	PRPF4_ENST00000374198.4_Missense_Mutation_p.H199N			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	199						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	p.H199Y(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GGCCCGACTCCATAAGGAGAT	0.512000													20	60					9.57634e-11	1.50218e-10	0.003330	1	0
UNC79	57578	broad.mit.edu	37	14	94083641	94083641	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94083641C>T	ENST00000553484.1	+	29	4435	c.4281C>T	c.(4279-4281)atC>atT	p.I1427I	UNC79_ENST00000256339.4_Silent_p.I1228I|UNC79_ENST00000393151.2_Silent_p.I1405I|UNC79_ENST00000555664.1_Silent_p.I1405I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1405						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						TGCTTGTCATCCTTTACAAGG	0.488000													30	64					0	0	0.002836	0	0
PABPC3	5042	broad.mit.edu	37	13	25671146	25671146	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:25671146G>A	ENST00000281589.3	+	1	847	c.810G>A	c.(808-810)gtG>gtA	p.V270V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	270					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGAAAAAAGTGGAACGGCAGA	0.403000													12	54					0	0	0.001368	0	0
XRCC1	7515	broad.mit.edu	37	19	44058893	44058893	+	Missense_Mutation	SNP	G	G	A	rs144559135		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44058893G>A	ENST00000262887.5	-	4	866	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	L34079.2_ENST00000594374.1_Missense_Mutation_p.P115L|L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.R76C			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	107			R -> H (in dbSNP:rs2228487).		base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				ATGCGAACGCGGTTGGGGTTT	0.607000								Other BER factors					36	85					0	0	0.006230	0	0
DCHS2	54798	broad.mit.edu	37	4	155155970	155155970	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155155970G>A	ENST00000357232.3	-	25	8468	c.8469C>T	c.(8467-8469)ccC>ccT	p.P2823P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2823					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATCAAAGGGGGTGGAAAAA	0.463000													30	82					0	0	0.002096	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297647	77297647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77297647G>A	ENST00000393774.3	+	3	443	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E90K	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	107										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAACATGGAGGAGTCCTACGT	0.537000													33	64					0	0	0.004878	0	0
MTMR12	54545	broad.mit.edu	37	5	32230115	32230115	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32230115G>A	ENST00000382142.3	-	16	2183	c.2013C>T	c.(2011-2013)gtC>gtT	p.V671V	MTMR12_ENST00000264934.5_Silent_p.V561V|MTMR12_ENST00000280285.5_Silent_p.V617V	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	671						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTAAACTCTGGACTTCCTCCA	0.582000													51	102					0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926392	157926392	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926392C>T	ENST00000389413.3	-	9	1636	c.1533G>A	c.(1531-1533)cgG>cgA	p.R511R	PTPRN2_ENST00000404321.2_Silent_p.R534R|PTPRN2_ENST00000389416.4_Silent_p.R494R|PTPRN2_ENST00000389418.4_Silent_p.R511R|PTPRN2_ENST00000409483.1_Silent_p.R473R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	511						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)		CGATGTAGCCCCGCGCCTCTT	0.662000													12	42					0	0	0.002450	0	0
RBM33	155435	broad.mit.edu	37	7	155530837	155530837	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155530837A>G	ENST00000401878.3	+	11	1675	c.1477A>G	c.(1477-1479)Aac>Gac	p.N493D		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	493	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TACCCTTCTTAACAGTAGCCA	0.517000													30	63					0	0	0.001512	0	0
USP43	124739	broad.mit.edu	37	17	9632244	9632244	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:9632244G>A	ENST00000570827.2	+	15	3450	c.2376G>A	c.(2374-2376)caG>caA	p.Q792Q	USP43_ENST00000285199.6_Silent_p.Q1103Q|USP43_ENST00000570475.1_Silent_p.Q1098Q			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1103					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GCACCTTTCAGAGAGTCAAAT	0.522000											OREG0024168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	81					0	0	0.001523	0	0
ATG2A	23130	broad.mit.edu	37	11	64678702	64678702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64678702G>A	ENST00000421419.2	-	10	1388	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	ATG2A_ENST00000377264.3_Missense_Mutation_p.S425L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	425							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTTCAGCAGCGAGTCAGGGCG	0.627000													19	42					0	0	0.001216	0	0
CD5	921	broad.mit.edu	37	11	60892556	60892556	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60892556C>T	ENST00000347785.3	+	9	1498	c.1332C>T	c.(1330-1332)ccC>ccT	p.P444P		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	444					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGAGAACCCCACAGCCTCCC	0.592000													10	34					0	0	0.001368	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282996	107282996	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107282996G>A	ENST00000390639.2	-	0	200																											TACCATAGGTGGTGAAACTGT	0.567000													61	40					0	0	0.003610	0	0
UNC13B	10497	broad.mit.edu	37	9	35380573	35380573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35380573C>T	ENST00000378495.3	+	17	2287	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	UNC13B_ENST00000378496.4_Missense_Mutation_p.L689F|UNC13B_ENST00000396787.1_Missense_Mutation_p.L701F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	689	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGATGATTTCCTTGGCCAAAC	0.502000													36	51					0	0	0.004878	0	0
TAP2	6891	broad.mit.edu	37	6	32782108	32782108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32782108G>A	ENST00000452392.2	-	14	2626	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.S211F			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CCACTCCACAGAAACAGGGCT	0.488000													17	47					0	0	0.001216	0	0
UHRF1	29128	broad.mit.edu	37	19	4941585	4941585	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4941585C>T	ENST00000592666.1	+	0	1407							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TGGACGAAGTCTTCAAGATTG	0.577000													7	18					0	0	0.003080	0	0
OPCML	4978	broad.mit.edu	37	11	132307126	132307126	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:132307126G>A	ENST00000331898.7	-	4	1232	c.654C>T	c.(652-654)atC>atT	p.I218I	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.I218I|OPCML_ENST00000524381.1_Silent_p.I211I|OPCML_ENST00000374778.4_Silent_p.I177I	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	218	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGTTTACAGTGATTTTTACTT	0.537000													15	52					0	0	0.007413	0	0
VRTN	55237	broad.mit.edu	37	14	74825492	74825492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74825492C>T	ENST00000256362.4	+	2	2247	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	669					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						AAGAGCTTTCCCTCCTACAAG	0.572000													15	55					0	0	0.007413	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522769	67522769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:67522769C>T	ENST00000521381.1	+	2	882	c.266C>T	c.(265-267)cCc>cTc	p.P89L	PIK3R1_ENST00000521657.1_Missense_Mutation_p.P89L|PIK3R1_ENST00000274335.5_Missense_Mutation_p.P89L|PIK3R1_ENST00000396611.1_Missense_Mutation_p.P89L	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	89					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACACCAAAGCCCCGGCCACCT	0.463000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			16	30					0	0	0.007413	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877642	24877642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24877642G>A	ENST00000382554.3	+	3	1084	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	256					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGGGGCCCAGAAAATTCAAA	0.592000													13	34					0	0	0.004007	0	0
FSCB	84075	broad.mit.edu	37	14	44975513	44975513	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:44975513G>A	ENST00000340446.4	-	1	969	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	226						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AAAGTACCGGGGGACCTTTTT	0.408000													38	57					0	0	0.006230	0	0
DNAJC10	54431	broad.mit.edu	37	2	183640123	183640123	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183640123C>T	ENST00000264065.6	+	23	2761	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	782					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGAAACTCTCCGAAATCAAG	0.338000													5	28					0	0	0.001168	0	0
MRPL21	219927	broad.mit.edu	37	11	68668047	68668047	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:68668047A>G	ENST00000362034.2	-	2	124	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	MRPL21_ENST00000567045.1_5'UTR|MRPL21_ENST00000450904.2_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	39					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGTGAATTGAACCTTCGAGAA	0.388000													70	165					0	0	0.003610	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935494	155935494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155935494G>A	ENST00000368316.1	-	9	787	c.317C>T	c.(316-318)tCc>tTc	p.S106F	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.S134F|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S133F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S106F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S133F			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	133					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCCAGGAGGGACTGCCGGAA	0.617000													9	22					0	0	0.004482	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656462	46656462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46656462C>T	ENST00000253255.5	-	1	2757	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	920					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTTCCTGATCATTTAACCAA	0.438000													61	96					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189853340	189853340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:189853340C>T	ENST00000304636.3	+	7	777	c.607C>T	c.(607-609)Cct>Tct	p.P203S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P203S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	203	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCAAGGACCCCCTGGTGAACC	0.333000													10	32					0	0	0.002450	0	0
CSMD3	114788	broad.mit.edu	37	8	113403005	113403005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:113403005C>T	ENST00000297405.5	-	36	6066	c.5822G>A	c.(5821-5823)gGa>gAa	p.G1941E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1871E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1837E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1901E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1941	CUB 11.					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						AGTTAAAATTCCACCACAGGG	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	23					0	0	0.000978	0	0
OR4L1	122742	broad.mit.edu	37	14	20528601	20528601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20528601G>A	ENST00000315683.1	+	1	398	c.398G>A	c.(397-399)aGg>aAg	p.R133K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCACTATAGGACAATCATG	0.413000													29	80					0	0	0.001512	0	0
SLC23A3	151295	broad.mit.edu	37	2	220027108	220027108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220027108G>A	ENST00000455516.2	-	11	1521	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.P367S|SLC23A3_ENST00000409878.3_Missense_Mutation_p.P484S	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	484					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATCCAAGGGGCTCCAGCCT	0.532000													11	17					0	0	0.001368	0	0
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3240713G>A	ENST00000217939.6	-	5	3167	c.3013C>T	c.(3013-3015)Ccc>Tcc	p.P1005S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1005						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463000													43	30					0	0	0.003610	0	0
DNAJC13	23317	broad.mit.edu	37	3	132185203	132185203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:132185203C>T	ENST00000260818.6	+	19	2277	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	677							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGATGCTGATCGGATGCATGT	0.388000													20	51					0	0	0.002299	0	0
ZNF300	91975	broad.mit.edu	37	5	150282706	150282706	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150282706G>A	ENST00000427179.1	-	3	238	c.12C>T	c.(10-12)tcC>tcT	p.S4S	ZNF300_ENST00000446148.2_Silent_p.S20S|ZNF300_ENST00000274599.5_Silent_p.S4S|ZNF300_ENST00000394226.2_Silent_p.S4S|ZNF300_ENST00000418587.2_Intron			Q96RE9	ZN300_HUMAN	zinc finger protein 300	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCACCTGGGACTTCATCA	0.343000													8	52					0	0	0.000673	0	0
MAP4K5	11183	broad.mit.edu	37	14	50901138	50901138	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:50901138G>C	ENST00000013125.4	-	27	2456	c.2138C>G	c.(2137-2139)tCt>tGt	p.S713C		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	713	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AAACCATGAAGATGCAGAGTT	0.348000													8	18					0	0	0.004482	0	0
C1orf51	148523	broad.mit.edu	37	1	150257076	150257076	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150257076C>T	ENST00000290363.5	+	4	1040	c.591C>T	c.(589-591)gcC>gcT	p.A197A	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.A197A|C1orf51_ENST00000369094.1_Silent_p.A109A	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	197										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAATAGCTGCCCAGAAGTCAT	0.438000													20	60					0	0	0.002299	0	0
TSC1	7248	broad.mit.edu	37	9	135779089	135779089	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135779089G>A	ENST00000298552.3	-	17	2378	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	TSC1_ENST00000440111.2_Silent_p.L719L|TSC1_ENST00000545250.1_Silent_p.L668L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	719					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTTGCGGAGGAGCCGCCTGT	0.532000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				19	52					0	0	0.007413	0	0
DLG5	9231	broad.mit.edu	37	10	79566545	79566545	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79566545G>A	ENST00000372391.2	-	26	4943	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	DLG5_ENST00000372388.2_Silent_p.I1306I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1646	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCCCGCGCTGGATCTTCTGGG	0.617000													22	34					0	0	0.002299	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724680	72724680	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72724680C>T	ENST00000377182.4	+	4	1082	c.465C>T	c.(463-465)atC>atT	p.I155I	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	155	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CAGCCAGCATCGCACTATTTG	0.378000													36	75					0	0	0.007835	0	0
LRP1B	53353	broad.mit.edu	37	2	141232749	141232749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141232749G>A	ENST00000389484.3	-	60	10554	c.9583C>T	c.(9583-9585)Cac>Tac	p.H3195Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3195					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)		AATTCAATGTGATTTTCATCG	0.338000										TSP Lung(27;0.18)			22	51					0	0	0.003954	0	0
DZANK1	55184	broad.mit.edu	37	20	18370464	18370464	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:18370464G>A	ENST00000357236.4	-	20	2216	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	DZANK1_ENST00000487128.1_5'UTR|DZANK1_ENST00000377630.5_Silent_p.D466D|DZANK1_ENST00000262547.5_Silent_p.D633D|DZANK1_ENST00000329494.5_Silent_p.D611D			Q9NVP4	CT012_HUMAN	double zinc ribbon and ankyrin repeat domains 1	460						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						AGCAGTTGGGGTCTGCTCCCT	0.488000													39	97					0	0	0.002222	0	0
CAMK1	8536	broad.mit.edu	37	3	9802389	9802389	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9802389C>T	ENST00000256460.3	-	8	873	c.696G>A	c.(694-696)aaG>aaA	p.K232K	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	232	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CGTACTCGGCCTTCAAAATCT	0.512000													19	36					0	0	0.001216	0	0
CLN8	2055	broad.mit.edu	37	8	1728729	1728729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1728729C>T	ENST00000331222.4	+	3	1104	c.857C>T	c.(856-858)cCa>cTa	p.P286L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	286					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		AAGAAGAGGCCATAGCTGCTC	0.592000													18	34					0	0	0.004990	0	0
PDYN	5173	broad.mit.edu	37	20	1961245	1961245	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1961245G>A	ENST00000217305.2	-	4	714	c.489C>T	c.(487-489)ctC>ctT	p.L163L	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.L163L|PDYN_ENST00000539905.1_Silent_p.L163L	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	163					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCCTCAGCGAGATAGAGTG	0.592000													27	60					0	0	0.001512	0	0
NRF1	4899	broad.mit.edu	37	7	129311382	129311382	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:129311382C>T	ENST00000393232.1	+	3	454	c.338_splice	c.e3+1	p.R113_splice	NRF1_ENST00000393230.2_Splice_Site_p.R113_splice|NRF1_ENST00000311967.2_Splice_Site_p.R113_splice|NRF1_ENST00000223190.4_Splice_Site_p.R113_splice|NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393231.3_Splice_Site_p.R113_splice|NRF1_ENST00000353868.4_Splice_Site_p.R113_splice	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	113					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ACGTTTGCTTCGGTGAGGGCT	0.458000													19	37					0	0	0.007413	0	0
PTPRD	5789	broad.mit.edu	37	9	8524996	8524996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8524996C>T	ENST00000381196.4	-	15	1151	c.608G>A	c.(607-609)gGa>gAa	p.G203E	PTPRD_ENST00000355233.5_Missense_Mutation_p.G203E|PTPRD_ENST00000397606.3_Missense_Mutation_p.G197E|PTPRD_ENST00000537002.1_Missense_Mutation_p.G200E|PTPRD_ENST00000397611.3_Missense_Mutation_p.G200E|PTPRD_ENST00000397617.3_Missense_Mutation_p.G197E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G194E|PTPRD_ENST00000540109.1_Missense_Mutation_p.G203E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G194E|PTPRD_ENST00000486161.1_Missense_Mutation_p.G203E|PTPRD_ENST00000356435.5_Missense_Mutation_p.G203E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	203	Ig-like C2-type 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)		CTCATATTTTCCTTGGTCAGA	0.453000										TSP Lung(15;0.13)			44	123					0	0	0.003610	0	0
DTNA	1837	broad.mit.edu	37	18	32455319	32455319	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:32455319C>T	ENST00000283365.9	+	17	1959	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	DTNA_ENST00000269190.7_Silent_p.S594S|DTNA_ENST00000399121.5_Silent_p.S540S|DTNA_ENST00000269192.7_Silent_p.S302S|DTNA_ENST00000598142.1_Silent_p.S536S|DTNA_ENST00000591182.1_Silent_p.S241S|DTNA_ENST00000601125.1_Silent_p.S215S|DTNA_ENST00000399113.3_Silent_p.S593S|DTNA_ENST00000399097.3_Silent_p.S241S|DTNA_ENST00000590831.2_Silent_p.S19S|DTNA_ENST00000595022.1_Silent_p.S533S|DTNA_ENST00000444659.1_Silent_p.S593S|DTNA_ENST00000598334.1_Silent_p.S533S|DTNA_ENST00000556414.3_Silent_p.S245S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	593					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGCAGGACTCCCTCACAGGAG	0.562000													20	47					0	0	0.002780	0	0
COL11A1	1301	broad.mit.edu	37	1	103427776	103427776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103427776C>T	ENST00000358392.2	-	40	3423	c.3106G>A	c.(3106-3108)Gga>Aga	p.G1036R	COL11A1_ENST00000512756.1_Missense_Mutation_p.G908R|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1024R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G985R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1024	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACGTAATCCTGCTGGTCCA	0.388000													35	94					0	0	0.001951	0	0
RASSF5	83593	broad.mit.edu	37	1	206711525	206711525	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:206711525A>T	ENST00000338603.2	+	2	539	c.482A>T	c.(481-483)gAa>gTa	p.E161V	RASSF5_ENST00000367117.3_Missense_Mutation_p.E161V|RASSF5_ENST00000355294.4_Missense_Mutation_p.E161V	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	161					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGTCACCCAGAATGCCGCAGC	0.527000													34	60					0	0	0.004878	0	0
YIPF3	25844	broad.mit.edu	37	6	43480049	43480049	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43480049G>A	ENST00000372422.2	-	9	1091	c.909C>T	c.(907-909)atC>atT	p.I303I	YIPF3_ENST00000506469.1_Silent_p.I309I	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	303					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GTGTGTCCAGGATCCCTGGAA	0.602000													16	52					0	0	0.001216	0	0
IGFL2	147920	broad.mit.edu	37	19	46663963	46663963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46663963G>A	ENST00000434646.2	+	4	490	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	IGFL2_ENST00000377693.4_Missense_Mutation_p.A56T|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	56						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)		TTACAATGACGCCATCGTGTC	0.592000													30	195					0	0	0.006320	0	0
POLR3B	55703	broad.mit.edu	37	12	106772061	106772061	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:106772061T>G	ENST00000228347.4	+	8	735	c.513T>G	c.(511-513)gtT>gtG	p.V171V	POLR3B_ENST00000539066.1_Silent_p.V113V	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	171					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACTTCATTGTTAAAGGAGTAG	0.398000													34	70					0	0	0.002445	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381677	99381677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99381677C>T	ENST00000354593.2	-	1	131	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E10K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	10					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCCAGGTTTCCATGGCCAAG	0.507000													31	44					0	0	0.004878	0	0
CSMD1	64478	broad.mit.edu	37	8	2857480	2857480	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2857480G>A	ENST00000602557.1	-	54	8761	c.8206_splice	c.e54+1	p.P2736_splice	CSMD1_ENST00000542608.1_Splice_Site_p.P2677_splice|CSMD1_ENST00000520002.1_Splice_Site_p.P2736_splice|CSMD1_ENST00000602723.1_Splice_Site_p.P2678_splice|CSMD1_ENST00000537824.1_Splice_Site_p.P2735_splice|CSMD1_ENST00000400186.3_Splice_Site_p.P2678_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2736	Sushi 18.					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)		GTGCACTTACGGACACAGACA	0.458000													43	97					0	0	0.003610	0	0
MARCH3	115123	broad.mit.edu	37	5	126213904	126213904	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126213904G>A	ENST00000308660.5	-	4	1090	c.576C>T	c.(574-576)ctC>ctT	p.L192L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	192					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AAATAGTGAAGAGTGCGACAG	0.587000													17	48					0	0	0.001523	0	0
SMG6	23293	broad.mit.edu	37	17	2186922	2186922	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2186922C>T	ENST00000544865.1	-	7	2862	c.2352G>A	c.(2350-2352)cgG>cgA	p.R784R	SMG6_ENST00000263073.5_Silent_p.R815R			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	815					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTCACCTTCCGCTTGGTCT	0.532000													9	52					0	0	0.006214	0	0
FETUB	26998	broad.mit.edu	37	3	186370277	186370277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370277G>A	ENST00000265029.3	+	7	1107	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.G336R|FETUB_ENST00000382136.3_Missense_Mutation_p.G299R|FETUB_ENST00000539949.1_Missense_Mutation_p.G188R|FETUB_ENST00000382134.3_Missense_Mutation_p.G271R	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAATCCCCAGGGAGAAACCCT	0.517000													27	63					0	0	0.001786	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100169975G>A	ENST00000524871.1	+	20	2757	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E823K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E823K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E823K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E749K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000													14	27					0	0	0.003163	0	0
XDH	7498	broad.mit.edu	37	2	31602819	31602819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:31602819C>T	ENST00000379416.3	-	13	1204	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	386	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGGTGTGGTCCATCTGGACA	0.542000													27	51					0	0	0.002445	0	0
HTT	3064	broad.mit.edu	37	4	3148568	3148568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3148568C>T	ENST00000355072.5	+	25	3333	c.3188C>T	c.(3187-3189)aCc>aTc	p.T1063I		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1063					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGAGCTGTACCGTTGGGATG	0.463000													65	268					0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593085	31593085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31593085C>T	ENST00000376033.2	+	6	835	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.P201S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	201	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						AAGCCTCCGCCCCCAAAGTGA	0.577000													15	48					0	0	0.004007	0	0
DMGDH	29958	broad.mit.edu	37	5	78338173	78338173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:78338173G>A	ENST00000255189.3	-	7	1154	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	DMGDH_ENST00000380311.4_Missense_Mutation_p.P175S|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	376					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AGAATGTCAGGAGAATACGTG	0.438000													17	34					0	0	0.004007	0	0
ZFP64	55734	broad.mit.edu	37	20	50769309	50769309	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50769309G>A	ENST00000216923.4	-	6	1771	c.1422C>T	c.(1420-1422)ccC>ccT	p.P474P	ZFP64_ENST00000346617.4_Silent_p.P420P|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.P472P	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACAGTGAGGGGCGTGGCGG	0.602000													28	54					0	0	0.006320	0	0
IDS	3423	broad.mit.edu	37	X	148579655	148579655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:148579655G>A	ENST00000340855.6	-	5	900	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	IDS_ENST00000370443.4_Missense_Mutation_p.P231S|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.P231S|IDS_ENST00000541269.1_Missense_Mutation_p.P20S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	231			P -> L (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATCTGAAGGGGATGTGTGGC	0.507000													22	80					0	0	0.003954	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159919	167159919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:167159919C>T	ENST00000476257.1	-	10	1494	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	SERPINI2_ENST00000471111.1_Missense_Mutation_p.G399E|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G399E|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G399E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	399					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TAAATCTCTTCCTTTTATCTC	0.328000													12	31					0	0	0.001855	0	0
DSCAM	1826	broad.mit.edu	37	21	41668096	41668096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:41668096G>A	ENST00000400454.1	-	10	2545	c.2068C>T	c.(2068-2070)Ccc>Tcc	p.P690S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	690	Ig-like C2-type 8.				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)				ACAAACTTGGGAGGAACTGAA	0.413000													6	42					0	0	0.001984	0	0
CBFB	865	broad.mit.edu	37	16	67116155	67116155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67116155C>T	ENST00000290858.6	+	5	700	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CBFB_ENST00000561924.2_Missense_Mutation_p.R47W|CBFB_ENST00000412916.2_Missense_Mutation_p.R147W	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	147					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TGAAGAGGCTCGGAGAAGGAC	0.408000			T	MYH11	AML								15	40					0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21228679	21228679	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21228679G>A	ENST00000233242.1	-	26	11188	c.11061C>T	c.(11059-11061)ttC>ttT	p.F3687F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3687					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGCTTTAGGAAATCCCATA	0.433000													113	332					0	0	0.003610	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651725	127651725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:127651725G>A	ENST00000373555.4	-	17	1921	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	530	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CGCTCCAGCTGGAGAATCTCC	0.552000													38	103					0	0	0.007835	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43535769	43535769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43535769G>A	ENST00000430334.3	-	6	1478	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.R360W|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	449					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)					CGGGAAGGCCGGTAGAAGTCA	0.493000													5	21					0	0	0.001984	0	0
PSG5	5673	broad.mit.edu	37	19	43680251	43680251	+	Silent	SNP	C	C	T	rs138774767		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43680251C>T	ENST00000404580.1	-	3	568	c.480G>A	c.(478-480)gaG>gaA	p.E160E	PSG5_ENST00000342951.6_Silent_p.E160E|PSG5_ENST00000599812.1_Silent_p.E253E|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.E160E|PSG5_ENST00000407356.1_Silent_p.E160E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E160E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CATCCTTATTCTCCCTGGGTT	0.488000													67	166					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179641269	179641269	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641269G>A	ENST00000589042.1	-	28	5546	c.5322C>T	c.(5320-5322)atC>atT	p.I1774I	TTN_ENST00000360870.5_Silent_p.I1774I|TTN_ENST00000591111.1_Silent_p.I1774I|TTN_ENST00000460472.2_Silent_p.I1728I|TTN_ENST00000342175.6_Silent_p.I1728I|TTN_ENST00000342992.6_Silent_p.I1774I|TTN_ENST00000359218.5_Silent_p.I1728I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1527	Ig-like 8.						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)			TGCAAGTAATGATACCACTGT	0.423000													22	52					0	0	0.002780	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44795885	44795885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44795885C>T	ENST00000309315.4	+	2	160	c.37C>T	c.(37-39)Cct>Tct	p.P13S	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P13S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P13S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P13S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P13S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	13					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCTGCCCCCTGCGCCACA	0.597000													9	32					0	0	0.002450	0	0
SORCS3	22986	broad.mit.edu	37	10	106960951	106960951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106960951G>A	ENST00000369701.3	+	16	2428	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	SORCS3_ENST00000369699.4_Missense_Mutation_p.R20Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	734						integral to membrane	neuropeptide receptor activity	p.R734Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCCCTGGGCCGAGACCACTCA	0.488000													23	50					0	0	0.003954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506687	37506687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37506687G>A	ENST00000374660.1	+	39	3436	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E994K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E994K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1100						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAAATTAGGGAAGAATTAGG	0.318000													18	66					0	0	0.006122	0	0
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57181659T>A	ENST00000262294.7	-	2	377	c.118A>T	c.(118-120)Att>Ttt	p.I40F	TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000584889.1_Missense_Mutation_p.I40F|TRIM37_ENST00000393065.2_Intron|TRIM37_ENST00000393066.3_Missense_Mutation_p.I40F	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	40						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353000									Mulibrey Nanism				8	27					0	0	0.004482	0	0
SCUBE3	222663	broad.mit.edu	37	6	35212515	35212515	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35212515G>A	ENST00000274938.7	+	18	2328	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	SCUBE3_ENST00000394681.1_Silent_p.Q792Q	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	776					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						ACTTCCGTCAGAACTTCTGCA	0.562000													31	72					0	0	0.003271	0	0
PPL	5493	broad.mit.edu	37	16	4934161	4934161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4934161C>T	ENST00000345988.2	-	22	4584	c.4495G>A	c.(4495-4497)Gtg>Atg	p.V1499M	PPL_ENST00000590782.2_Missense_Mutation_p.V1497M	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1499					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGAGCACCACCTTCTCCTTG	0.642000													15	45					0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141260627	141260627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141260627C>T	ENST00000389484.3	-	54	9538	c.8567G>A	c.(8566-8568)cGg>cAg	p.R2856Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2856	LDL-receptor class A 19.				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)		TAGAAGACACCGCCCATCAGC	0.393000										TSP Lung(27;0.18)			18	49					0	0	0.007413	0	0
LCTL	197021	broad.mit.edu	37	15	66845568	66845568	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66845568C>T	ENST00000341509.5	-	9	1082	c.951G>A	c.(949-951)gaG>gaA	p.E317E	LCTL_ENST00000537670.1_Silent_p.E144E	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	317					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCTCGACATCTCCAGGCCTT	0.428000													28	129					0	0	0.001786	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262456	7262456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:7262456G>A	ENST00000361972.4	-	11	1337	c.1247C>T	c.(1246-1248)gCt>gTt	p.A416V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A416V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	416					regulation of transcription, DNA-dependent	nucleus		p.A416D(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGGTTCACAGCTTCAAGTTT	0.532000													24	71					0	0	0.002299	0	0
CDC5L	988	broad.mit.edu	37	6	44371580	44371580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44371580C>T	ENST00000371477.3	+	6	873	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	192					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGAGAACTTCGAGCAGCTGG	0.378000													20	46					0	0	0.002780	0	0
KIF4B	285643	broad.mit.edu	37	5	154394581	154394581	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:154394581C>T	ENST00000435029.4	+	1	1322	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	388					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)			TCTACAATCCCTGATGGAGAA	0.463000													50	94					0	0	0.003610	0	0
APIP	51074	broad.mit.edu	37	11	34916658	34916658	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:34916658C>T	ENST00000395787.3	-	2	272		c.e2-1		APIP_ENST00000278359.5_Splice_Site|APIP_ENST00000527830.1_Intron	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein						apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GCTCCTTGTCCTTAAAAAGAA	0.368000													17	57					0	0	0.004990	0	0
WIZ	58525	broad.mit.edu	37	19	15537819	15537819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15537819C>T	ENST00000389282.4	-	6	3839	c.3626G>A	c.(3625-3627)cGg>cAg	p.R1209Q	WIZ_ENST00000599686.2_Missense_Mutation_p.R393Q|WIZ_ENST00000263381.6_Missense_Mutation_p.R352Q|WIZ_ENST00000545156.1_Missense_Mutation_p.R523Q|WIZ_ENST00000599910.1_Missense_Mutation_p.R526Q			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1209						nucleus	zinc ion binding	p.R352L(1)|p.R1209L(1)|p.R523L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CATGTCTTCCCGTGGTGCCCC	0.617000													9	38					0	0	0.006214	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628150	234628150	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234628150T>C	ENST00000373409.3	+	1	727	c.684T>C	c.(682-684)tcT>tcC	p.S228S	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		ATACTTTTTCTGCCCCTTATG	0.488000													62	106					0	0	0.003610	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161792	1161792	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:1161792C>T	ENST00000381894.3	-	2	1142	c.471G>A	c.(469-471)cgG>cgA	p.R157R		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	157						integral to membrane	protein binding										GTTCCATCTCCCGCGCTGTCA	0.617000													12	24					0	0	0.001368	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78295821	78295821	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78295821C>T	ENST00000409931.3	-	11	2471	c.2400G>A	c.(2398-2400)cgG>cgA	p.R800R	TBC1D2B_ENST00000300584.3_Silent_p.R800R			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	800	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTCTGAACACCCGCTGGTCCA	0.552000													9	14					0	0	0.004482	0	0
CACNA1D	776	broad.mit.edu	37	3	53842732	53842732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:53842732G>A	ENST00000288139.3	+	47	5984	c.5866G>A	c.(5866-5868)Gag>Aag	p.E1956K	CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1936K|CACNA1D_ENST00000544977.1_Missense_Mutation_p.E315K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1912K	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1936					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)	CAGCCAGGAAGAGGTCCCGTC	0.612000													36	27					0	0	0.006999	0	0
SNAP91	9892	broad.mit.edu	37	6	84417530	84417530	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84417530T>A	ENST00000428679.2	-	2	710	c.117A>T	c.(115-117)aaA>aaT	p.K39N	SNAP91_ENST00000520302.1_Missense_Mutation_p.K39N|SNAP91_ENST00000521485.1_Missense_Mutation_p.K39N|SNAP91_ENST00000369694.2_Missense_Mutation_p.K39N|SNAP91_ENST00000520213.1_Missense_Mutation_p.K39N|SNAP91_ENST00000521743.1_Missense_Mutation_p.K39N|SNAP91_ENST00000437520.1_Missense_Mutation_p.K39N|SNAP91_ENST00000195649.6_Missense_Mutation_p.K39N|SNAP91_ENST00000439399.2_Missense_Mutation_p.K39N			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	39	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCAGGTGCTTTTTCTTGGGGC	0.557000													18	72					0	0	0.001523	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791172	106791172	+	RNA	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106791172T>A	ENST00000390613.2	-	0	263																											TCCAGCCCCTTGCCTGGAGCC	0.542000													11	197					0	0	0.004007	0	0
AREL1	9870	broad.mit.edu	37	14	75179797	75179797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75179797G>A	ENST00000338772.5	-	1	3	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	AREL1_ENST00000557401.1_5'UTR|AREL1_ENST00000356357.4_5'UTR																							CTTTCCCCAAGGAGTTTCCGC	0.587000													7	24					0	0	0.001984	0	0
JAG2	3714	broad.mit.edu	37	14	105609069	105609069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105609069C>T	ENST00000331782.3	-	26	4083	c.3680G>A	c.(3679-3681)aGg>aAg	p.R1227K	JAG2_ENST00000347004.2_Missense_Mutation_p.R1189K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1227					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATTGATGCTCCTGACCGCGCG	0.687000													17	5					0	0	0.004990	0	0
CDHR2	54825	broad.mit.edu	37	5	176016391	176016391	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176016391G>A	ENST00000510636.1	+	23	3343	c.3069G>A	c.(3067-3069)agG>agA	p.R1023R	CDHR2_ENST00000261944.5_Silent_p.R1023R|CDHR2_ENST00000506348.1_Silent_p.R1023R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1023	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCCAGGCCAGGGACAGACCTT	0.647000													21	64					0	0	0.002780	0	0
CAPN10	11132	broad.mit.edu	37	2	241537768	241537768	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241537768G>A	ENST00000391984.2	+	11	2139		c.e11-1		CAPN10_ENST00000354082.4_Splice_Site|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Splice_Site|CAPN10_ENST00000404753.3_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10						actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTCTCCACAGGCCATCCATT	0.632000													8	33					0	0	0.000673	0	0
MEGF10	84466	broad.mit.edu	37	5	126781199	126781199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126781199G>A	ENST00000274473.6	+	21	2809	c.2542G>A	c.(2542-2544)Gct>Act	p.A848T	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.A848T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	848	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACCAGTACTGCTCTCCCTGC	0.428000													6	63					0	0	0.003080	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587015	15587015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15587015G>A	ENST00000292609.4	-	2	595	c.466C>T	c.(466-468)Cca>Tca	p.P156S	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P156S			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	156					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.P156S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						ACAACATCTGGAAAGGTATCT	0.587000													24	44					0	0	0.004656	0	0
ITSN2	50618	broad.mit.edu	37	2	24428097	24428097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:24428097G>A	ENST00000355123.4	-	38	5191	c.4748C>T	c.(4747-4749)gCc>gTc	p.A1583V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A1556V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1583	C2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTTTGCAGGCTTTTAATTC	0.443000													18	31					0	0	0.001882	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213445937	213445937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:213445937C>T	ENST00000366960.3	+	15	3311	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P1042L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P842L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1054	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAATCTCATCCATTTTTTACC	0.443000													20	60					0	0	0.001523	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770152	112770152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112770152C>T	ENST00000390666.3	-	1	576	c.385G>A	c.(385-387)Gac>Aac	p.D129N	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	129	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ACGTCCAGGTCGTGGCAGTAC	0.562000													8	35					0	0	0.003080	0	0
RYR3	6263	broad.mit.edu	37	15	34150115	34150115	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34150115G>A	ENST00000389232.4	+	99	14212	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_ENST00000415757.3_Splice_Site_p.T4709_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGATGACGGTGAGAGCCC	0.577000													5	5					0	0	0.001168	0	0
OR12D2	26529	broad.mit.edu	37	6	29364563	29364563	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29364563C>T	ENST00000383555.2	+	1	148	c.87C>T	c.(85-87)ttC>ttT	p.F29F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCGTGGTTTTCCTCACCATCT	0.448000													33	96					0	0	0.002096	0	0
ZNF790	388536	broad.mit.edu	37	19	37310620	37310620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:37310620G>A	ENST00000356725.4	-	5	746	c.626C>T	c.(625-627)cCt>cTt	p.P209L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGAATCAGGAAGAAAGGT	0.348000													7	28					0	0	0.001984	0	0
NFKB1	4790	broad.mit.edu	37	4	103459029	103459029	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:103459029C>T	ENST00000226574.4	+	5	641	c.174C>T	c.(172-174)ttC>ttT	p.F58F	NFKB1_ENST00000505458.1_Silent_p.F57F|NFKB1_ENST00000394820.4_Silent_p.F57F	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	57	RHD.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GATTTCGTTTCCGTTATGTAT	0.388000													16	70					0	0	0.006122	0	0
RBM5	10181	broad.mit.edu	37	3	50147119	50147119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:50147119C>T	ENST00000347869.3	+	15	1451	c.1276C>T	c.(1276-1278)Ccg>Tcg	p.P426S	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	426	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTGGCTCTCCGGTAATCCT	0.463000													67	24					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54952851	54952851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54952851G>A	ENST00000273286.5	-	3	835	c.673C>T	c.(673-675)Cct>Tct	p.P225S	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.P149S|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	225	LRRCT.					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)		AGCTCATGAGGGATCCTAAGG	0.547000													21	12					0	0	0.001523	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924811	120924811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120924811C>T	ENST00000273666.6	+	10	1190	c.919C>T	c.(919-921)Cca>Tca	p.P307S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P307S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P307S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P307S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P307S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	307					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCTTGTAAACCAATTCTTAA	0.284000													29	71					0	0	0.003271	0	0
SRGAP3	9901	broad.mit.edu	37	3	9052055	9052055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9052055C>T	ENST00000383836.3	-	18	2591	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	SRGAP3_ENST00000360413.3_Missense_Mutation_p.E698K	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	722	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCCCTGGCTCGCTGTGTGGG	0.572000			T	RAF1	pilocytic astrocytoma								31	24					0	0	0.002836	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005535	1005535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:1005535G>A	ENST00000234389.3	+	3	2054	c.2035G>A	c.(2035-2037)Ggg>Agg	p.G679R		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	679					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGAGCTGTCGGGGATCCACGA	0.697000													3	8					0	0	0.004672	0	0
NPHS2	7827	broad.mit.edu	37	1	179526183	179526183	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:179526183C>T	ENST00000367615.4	-	5	785	c.717G>A	c.(715-717)aaG>aaA	p.K239K	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	239					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGGCGATGCTCTTCCTCTCTA	0.373000													11	27					0	0	0.000978	0	0
SEMA3D	223117	broad.mit.edu	37	7	84727254	84727254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:84727254G>A	ENST00000284136.6	-	2	222	c.179C>T	c.(178-180)cCc>cTc	p.P60L	SEMA3D_ENST00000444867.1_Missense_Mutation_p.P60L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	60	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACCCAAAAAGGGAATACAGCT	0.388000													36	117					0	0	0.004878	0	0
NRXN1	9378	broad.mit.edu	37	2	50318477	50318477	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:50318477G>A	ENST00000404971.1	-	20	5161	c.3822C>T	c.(3820-3822)atC>atT	p.I1274I	NRXN1_ENST00000402717.3_Silent_p.I1226I|NRXN1_ENST00000405472.3_Silent_p.I1226I|NRXN1_ENST00000401710.1_Silent_p.I252I|NRXN1_ENST00000406316.2_Silent_p.I1234I|NRXN1_ENST00000401669.2_Silent_p.I1234I|NRXN1_ENST00000342183.5_Silent_p.I199I|NRXN1_ENST00000406859.3_Silent_p.I1234I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1234	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.I199I(1)|p.I1234I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGTAGCGCTCGATCACTGGCC	0.448000													60	154					0	0	0.003610	0	0
MYH14	79784	broad.mit.edu	37	19	50812330	50812330	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50812330C>T	ENST00000440075.2	+	42	5903	c.5856C>T	c.(5854-5856)tcC>tcT	p.S1952S	MYH14_ENST00000601313.1_Silent_p.S1952S|MYH14_ENST00000425460.1_Silent_p.S1919S|MYH14_ENST00000598205.1_Silent_p.S1919S|MYH14_ENST00000596571.1_Silent_p.S1911S|MYH14_ENST00000376970.2_Silent_p.S1944S|MYH14_ENST00000262269.8_Silent_p.S1952S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1911					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAGGCATCCCGGGCTCAGG	0.622000													14	38					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179579889	179579889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179579889G>A	ENST00000589042.1	-	90	26248	c.26024C>T	c.(26023-26025)tCt>tTt	p.S8675F	TTN_ENST00000591111.1_Missense_Mutation_p.S8358F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7431F|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8358	Ig-like 69.						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)			TTTATACCAAGAAACGTGAAA	0.453000													41	149					0	0	0.003214	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501929	140501929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140501929C>T	ENST00000194152.1	+	1	349	c.349C>T	c.(349-351)Caa>Taa	p.Q117*		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAATTTTTTCAAGGAGAATT	0.443000													22	43					0	0	0.002299	0	0
SBF2	81846	broad.mit.edu	37	11	9838486	9838486	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:9838486C>T	ENST00000256190.8	-	29	4016	c.3879G>A	c.(3877-3879)aaG>aaA	p.K1293K		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1293	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGAGTGATCCTTGCCTGCCA	0.512000													27	45					0	0	0.005443	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890114	105890114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:105890114C>T	ENST00000393359.2	-	9	2125	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D567N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	567					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCTGTTCATCCAAAGGTCTC	0.408000													12	43					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139163683	139163683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163683G>A	ENST00000395297.1	-	13	3205	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1012										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTCAGATGGGACCCCATGAT	0.507000										HNSCC(54;0.14)			9	22					0	0	0.000673	0	0
DAP	1611	broad.mit.edu	37	5	10683671	10683671	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:10683671G>A	ENST00000230895.6	-	3	368	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DAP_ENST00000432074.2_Intron	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	55					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				TGAACACAGTGGGTTTAGGTG	0.512000													20	45					0	0	0.001882	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844872	93844872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93844872G>A	ENST00000315765.9	+	20	3300	c.3292G>A	c.(3292-3294)Gag>Aag	p.E1098K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1098					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)				ACCTGGCAAAGAGCAGCTCTA	0.463000													16	27					0	0	0.004007	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793014	21793014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21793014C>T	ENST00000206660.6	+	14	2000	c.2000C>T	c.(1999-2001)cCa>cTa	p.P667L	RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P667L|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P629L|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	667					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGTACCCCATTATCTGTG	0.522000													37	126					0	0	0.006999	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:222291234G>A	ENST00000281821.2	-	16	2837	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	EPHA4_ENST00000409854.1_Silent_p.F932F|EPHA4_ENST00000392071.4_Silent_p.F881F|EPHA4_ENST00000409938.1_Silent_p.F932F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	932	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463000													6	38					0	0	0.001984	0	0
EME1	146956	broad.mit.edu	37	17	48458281	48458281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48458281C>T	ENST00000393271.2	+	9	1815	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F	EME1_ENST00000511648.2_Missense_Mutation_p.S578F|EME1_ENST00000338165.4_Missense_Mutation_p.S565F	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	565					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCACATCTCTCTTTAGATAGT	0.507000								Direct reversal of damage;Homologous recombination					17	37					0	0	0.007413	0	0
VWA3B	200403	broad.mit.edu	37	2	98804492	98804492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98804492C>T	ENST00000477737.1	+	10	1570	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	VWA3B_ENST00000435344.1_Missense_Mutation_p.P456S|VWA3B_ENST00000451075.2_Missense_Mutation_p.P306S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	456										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						TGTCCATGCTCCCTGGAAGGA	0.502000													13	26					0	0	0.001855	0	0
ZNF813	126017	broad.mit.edu	37	19	53994678	53994678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53994678C>T	ENST00000396403.4	+	4	1320	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGAGTTAACCCTTAAATGCCA	0.413000													15	38					0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152285642	152285642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152285642C>T	ENST00000368799.1	-	3	1755	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	574	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E574K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTTCGTGTT	0.557000									Ichthyosis				65	214					0	0	0.003610	0	0
NAA11	84779	broad.mit.edu	37	4	80246511	80246511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:80246511G>A	ENST00000286794.4	-	1	693	c.521C>T	c.(520-522)tCc>tTc	p.S174F	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	174						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GTTCTCCCTGGAGCCCAGGAC	0.547000													4	12					0	0	0.000248	0	0
CD72	971	broad.mit.edu	37	9	35618284	35618284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35618284G>A	ENST00000396757.1	-	2	181	c.17C>T	c.(16-18)aCc>aTc	p.T6I	CD72_ENST00000259633.4_Missense_Mutation_p.T6I|CD72_ENST00000378430.3_Missense_Mutation_p.T6I|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000378431.1_Missense_Mutation_p.T6I			P21854	CD72_HUMAN	CD72 molecule	6					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCATAGGTGATGGCCTC	0.577000													16	24					0	0	0.001523	0	0
TCHH	7062	broad.mit.edu	37	1	152081742	152081742	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152081742T>C	ENST00000368804.1	-	2	3950	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1317	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAACTGCTTTTCCTCTTGGG	0.552000													62	110					0	0	0.003610	0	0
DAGLB	221955	broad.mit.edu	37	7	6465685	6465685	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6465685G>A	ENST00000297056.6	-	7	1159	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DAGLB_ENST00000436575.1_Silent_p.F289F|DAGLB_ENST00000425398.2_Silent_p.F201F|DAGLB_ENST00000428902.2_Silent_p.F203F|DAGLB_ENST00000421761.2_Silent_p.F74F	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	330					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGATGGAGCCGAAGTGACAGT	0.537000													26	92					0	0	0.001512	0	0
TUBBP1	92755	broad.mit.edu	37	8	30209619	30209619	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:30209619C>T	ENST00000518096.1	+	0	231																											GCATCGACCCCACTGGCACCT	0.562000													6	20					0	0	0.001984	0	0
NETO1	81832	broad.mit.edu	37	18	70450954	70450954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70450954C>T	ENST00000327305.6	-	7	1484	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	NETO1_ENST00000583169.1_Missense_Mutation_p.R276Q|NETO1_ENST00000299430.2_Missense_Mutation_p.R275Q	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	276	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)		TCGGCTGTTTCGACTGCCCTC	0.463000													33	80					0	0	0.003755	0	0
COBL	23242	broad.mit.edu	37	7	51096964	51096964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096964C>T	ENST00000395542.2	-	12	2259	c.2075G>A	c.(2074-2076)gGa>gAa	p.G692E	COBL_ENST00000265136.7_Missense_Mutation_p.G610E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	610										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACACGGATTCCTTTTCCGAC	0.532000													14	27					0	0	0.002450	0	0
NAPSA	9476	broad.mit.edu	37	19	50863086	50863086	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50863086G>A	ENST00000253719.2	-	6	910	c.702C>T	c.(700-702)gtC>gtT	p.V234V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	234					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGCCCCCCAGGACCAGCTCTC	0.617000													20	50					0	0	0.001523	0	0
DGKG	1608	broad.mit.edu	37	3	185882754	185882754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185882754C>T	ENST00000265022.3	-	23	2688	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	DGKG_ENST00000382164.4_Missense_Mutation_p.G678R|DGKG_ENST00000544847.1_Missense_Mutation_p.G658R|DGKG_ENST00000344484.4_Missense_Mutation_p.G692R|DGKG_ENST00000447054.1_5'UTR	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	717					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TAGATCTGCCCCATCTCCATG	0.567000													21	28					0	0	0.001216	0	0
BAGE2	85319	broad.mit.edu	37	21	11039014	11039014	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:11039014C>T	ENST00000470054.1	-	0	1189									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)		AAACATCTTTCACACAACCCT	0.373000													22	299					0	0	0.001882	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142224244	142224244	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142224244C>T	ENST00000390367.3	-	0	40																											AGAGGGCCATCCAGCAGAGAA	0.527000													6	13					0	0	0.001168	0	0
RSPH4A	345895	broad.mit.edu	37	6	116943957	116943957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:116943957C>T	ENST00000229554.5	+	2	850	c.713C>T	c.(712-714)aCc>aTc	p.T238I	RSPH4A_ENST00000368581.4_Missense_Mutation_p.T238I|RSPH4A_ENST00000368580.4_Missense_Mutation_p.T238I	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	238					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AATATGTTGACCAAGATATTA	0.308000									Kartagener syndrome				30	100					0	0	0.002096	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602012	58602012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58602012G>A	ENST00000287275.1	-	6	1165	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	GLYATL2_ENST00000532258.1_Missense_Mutation_p.H259Y	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	259						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTGCCACATGGAAATAAAAT	0.403000													17	65					0	0	0.007413	0	0
CLEC5A	23601	broad.mit.edu	37	7	141631617	141631617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141631617G>A	ENST00000546910.1	-	6	551	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000551012.2_Nonsense_Mutation_p.Q96*|CLEC5A_ENST00000438351.1_Nonsense_Mutation_p.Q96*|CLEC5A_ENST00000439991.1_Nonsense_Mutation_p.Q15*|CLEC5A_ENST00000470595.1_5'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	119	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTATGTCCTGAAGAAACTTC	0.368000													20	43					0	0	0.001216	0	0
CCL24	6369	broad.mit.edu	37	7	75441142	75441142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75441142C>T	ENST00000416943.1	-	4	425	c.332G>A	c.(331-333)aGa>aAa	p.R111K	CCL24_ENST00000222902.2_Missense_Mutation_p.R111K	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	111					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GCCAGGATATCTCTGGACAGG	0.622000													8	31					0	0	0.003080	0	0
DDX60	55601	broad.mit.edu	37	4	169173784	169173784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169173784G>A	ENST00000393743.3	-	27	3872	c.3581C>T	c.(3580-3582)aCc>aTc	p.T1194I	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1194							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACATTTCTGGTTTTTTTCTG	0.323000													24	118					0	0	0.004656	0	0
CBLN2	147381	broad.mit.edu	37	18	70209173	70209173	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70209173C>G	ENST00000269503.4	-	3	996	c.223G>C	c.(223-225)Gac>Cac	p.D75H	CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.D75H|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				ACGGCGCCGTCCGCCGACGGG	0.711000													10	14					0	0	0.000673	0	0
RPL30	6156	broad.mit.edu	37	8	99057237	99057237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:99057237G>A	ENST00000521291.1	-	2	247	c.101C>T	c.(100-102)aCt>aTt	p.T34I	RPL30_ENST00000396070.2_Missense_Mutation_p.T34I|RPL30_ENST00000287038.3_Missense_Mutation_p.T34I|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_5'UTR			P62888	RL30_HUMAN	ribosomal protein L30	34					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CATCTTCAGAGTCTGCTTGTA	0.463000													61	130					0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	94129030	94129030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94129030C>T	ENST00000369303.4	-	1	214	c.30G>A	c.(28-30)tgG>tgA	p.W10*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.W10*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	10						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)		ATAAAATAATCCATGAAGGGT	0.448000													18	48					0	0	0.001523	0	0
SAG	6295	broad.mit.edu	37	2	234217864	234217864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234217864C>T	ENST00000409110.1	+	2	259	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	10					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACCAGCAAGTCCGAACCGAAC	0.463000													5	23					0	0	0.001168	0	0
MYH7B	57644	broad.mit.edu	37	20	33578591	33578591	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33578591C>T	ENST00000262873.7	+	21	2246	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	676	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCCCACTTCGTCCGCTGCA	0.617000													11	38					0	0	0.001368	0	0
GPC6	10082	broad.mit.edu	37	13	94938645	94938645	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:94938645A>G	ENST00000377047.4	+	5	1535	c.920A>G	c.(919-921)aAc>aGc	p.N307S		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	307						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGGCCATTCAACATTGAGTCG	0.448000													12	41					0	0	0.001368	0	0
PDILT	204474	broad.mit.edu	37	16	20384443	20384443	+	Splice_Site	SNP	C	C	T	rs78666211		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20384443C>T	ENST00000302451.4	-	6	931	c.681_splice	c.e6-1	p.G228_splice		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	228					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.G228V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CACAATTTTTCCCTTGTACAA	0.343000													28	55					0	0	0.007291	0	0
C11orf82	220042	broad.mit.edu	37	11	82644813	82644813	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82644813C>T	ENST00000533655.1	+	6	2645	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.F811F|C11orf82_ENST00000329143.3_Silent_p.F510F	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	811					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TAAGGATTTTCCCTGAAAATG	0.368000													14	30					0	0	0.001855	0	0
TNK2	10188	broad.mit.edu	37	3	195609174	195609174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195609174G>A	ENST00000333602.6	-	6	1252	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TNK2_ENST00000381916.2_Missense_Mutation_p.S275L|TNK2_ENST00000316664.3_Missense_Mutation_p.S212L|TNK2_ENST00000428187.1_Missense_Mutation_p.S244L|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000392400.1_Missense_Mutation_p.S212L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	212	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCAACAACGATCCCAGAGG	0.657000													9	27					0	0	0.000673	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307291	140307291	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307291C>T	ENST00000253807.2	+	1	814	c.814C>T	c.(814-816)Cta>Tta	p.L272L	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L272L|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTACTCCCTAAGCAACAG	0.552000													6	19					0	0	0.003080	0	0
PLIN3	10226	broad.mit.edu	37	19	4844713	4844713	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4844713G>A	ENST00000221957.4	-	7	1103	c.927C>T	c.(925-927)ctC>ctT	p.L309L	PLIN3_ENST00000592528.1_Silent_p.L297L|PLIN3_ENST00000585479.1_Silent_p.L309L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	309					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CGGGGCCCTGGAGCTGCTTCT	0.607000													4	11					0	0	0.000248	0	0
MEF2D	4209	broad.mit.edu	37	1	156437973	156437973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:156437973G>A	ENST00000348159.4	-	11	1846	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	MEF2D_ENST00000353795.3_Missense_Mutation_p.P410S|MEF2D_ENST00000368240.2_Missense_Mutation_p.P449S|MEF2D_ENST00000360595.3_Missense_Mutation_p.P449S|MEF2D_ENST00000340875.5_Missense_Mutation_p.P455S|MEF2D_ENST00000464356.1_5'UTR	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	456	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACACAGCTGGAGGGGGAGGC	0.682000													12	39					0	0	0.001368	0	0
NHS	4810	broad.mit.edu	37	X	17744107	17744107	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:17744107C>T	ENST00000380060.3	+	6	2156	c.1818C>T	c.(1816-1818)caC>caT	p.H606H	NHS_ENST00000398097.3_Silent_p.H450H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	606						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGATGACCACCAGTCATCCA	0.587000													26	14					0	0	0.003330	0	0
TPM1	7168	broad.mit.edu	37	15	63356339	63356339	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:63356339C>T	ENST00000288398.6	+	9	1047	c.849C>T	c.(847-849)tcC>tcT	p.S283S	TPM1_ENST00000267996.7_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000403994.3_Silent_p.S283S|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000559281.1_Silent_p.S247S|TPM1_ENST00000358278.3_Intron	NM_000366.5	NP_000357.3	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	283					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						ATATGACTTCCATGTAAACGT	0.498000													5	16					0	0	0.000602	0	0
GPR149	344758	broad.mit.edu	37	3	154055947	154055947	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458000													71	131					0	0	0.003610	0	0
CLDN18	51208	broad.mit.edu	37	3	137717741	137717741	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:137717741T>C	ENST00000343735.4	+	1	165	c.31T>C	c.(31-33)Ttc>Ctc	p.F11L		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GGGCTTGGGGTTCGTGGTTTC	0.557000													20	62					0	0	0.001216	0	0
SPZ1	84654	broad.mit.edu	37	5	79616859	79616859	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79616859G>A	ENST00000296739.4	+	1	1070	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGAAATCTCAGAAAGACATAA	0.403000													22	41					0	0	0.002299	0	0
CPA6	57094	broad.mit.edu	37	8	68658276	68658276	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68658276C>G	ENST00000297770.4	-	1	304	c.89G>C	c.(88-90)aGc>aCc	p.S30T	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.S30T	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	30					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATAAAGGTGGCTGTGCCCCGG	0.532000													14	23					0	0	0.003163	0	0
CDHR2	54825	broad.mit.edu	37	5	176002164	176002164	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176002164G>A	ENST00000510636.1	+	8	849	c.575G>A	c.(574-576)aGc>aAc	p.S192N	CDHR2_ENST00000261944.5_Missense_Mutation_p.S192N|CDHR2_ENST00000506348.1_Missense_Mutation_p.S192N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	192	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGCAGCCTCAGCTACAACAAC	0.627000													11	60					0	0	0.001855	0	0
NLRP6	171389	broad.mit.edu	37	11	284312	284312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:284312G>A	ENST00000534750.1	+	6	2486	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S	NLRP6_ENST00000312165.5_Missense_Mutation_p.G762S	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	762						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACGGAGCTGGGCCTCCTCCA	0.657000													9	28					0	0	0.006214	0	0
TYRO3	7301	broad.mit.edu	37	15	41859680	41859680	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:41859680T>G	ENST00000263798.3	+	7	1130	c.906T>G	c.(904-906)aaT>aaG	p.N302K	TYRO3_ENST00000559066.1_Missense_Mutation_p.N257K	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	302	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTGTGCCAATGCCTTGGGGC	0.642000													19	66					0	0	0.001523	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450534	105450534	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:105450534A>T	ENST00000337685.2	+	5	1894	c.1109A>T	c.(1108-1110)gAt>gTt	p.D370V	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D370V|MUM1L1_ENST00000357175.2_Missense_Mutation_p.D370V	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	370										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTCTATTAGATGATGATGAG	0.363000													11	4					0	0	0.000978	0	0
JPH1	56704	broad.mit.edu	37	8	75156789	75156789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:75156789G>A	ENST00000342232.4	-	4	1920	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	627					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTCCAAAGCAGGGCATGAATC	0.433000													24	71					0	0	0.002780	0	0
OR7D4	125958	broad.mit.edu	37	19	9325081	9325081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9325081C>T	ENST00000308682.2	-	1	461	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GATGCCAGAACCAGGAGGCCA	0.512000													6	39					0	0	0.001168	0	0
SLC35B3	51000	broad.mit.edu	37	6	8419894	8419894	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:8419894G>A	ENST00000379660.4	-	7	1148	c.699C>T	c.(697-699)tcC>tcT	p.S233S	SLC35B3_ENST00000339306.5_Silent_p.S233S	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	233					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					ATAGTGCCAGGGAAATAAGCA	0.323000													31	65					0	0	0.002836	0	0
DCTN1	1639	broad.mit.edu	37	2	74593973	74593973	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74593973G>A	ENST00000361874.3	-	21	2720	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	DCTN1_ENST00000409868.1_Silent_p.I784I|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Silent_p.I764I|DCTN1_ENST00000409567.3_Silent_p.I781I|DCTN1_ENST00000409438.1_Silent_p.I667I|DCTN1_ENST00000407639.2_Silent_p.I667I|DCTN1_ENST00000394003.3_Silent_p.I794I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	801					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCGCCTTCGGATCTTCTTGC	0.552000													15	45					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179426563	179426563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179426563G>A	ENST00000589042.1	-	326	84520	c.84296C>T	c.(84295-84297)tCt>tTt	p.S28099F	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S26458F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S19034F|TTN_ENST00000342175.6_Missense_Mutation_p.S19226F|TTN_ENST00000342992.6_Missense_Mutation_p.S25531F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S19159F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26458	Fibronectin type-III 105.						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)			CCATGTTGTAGAGGTGGTTTC	0.403000													12	31					0	0	0.001368	0	0
LILRA6	79168	broad.mit.edu	37	19	54745664	54745664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54745664C>T	ENST00000440558.2	-	4	494	c.446G>A	c.(445-447)gGa>gAa	p.G149E	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G149E|LILRA6_ENST00000396365.2_Missense_Mutation_p.G149E|LILRA6_ENST00000270464.5_Missense_Mutation_p.G149E|LILRA6_ENST00000391735.3_Missense_Mutation_p.G149E|LILRA6_ENST00000245621.5_Missense_Mutation_p.G149E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGGTGATATCCCTTCTGTGA	0.582000													9	36					0	0	0.001368	0	0
KIAA0586	9786	broad.mit.edu	37	14	58938959	58938959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:58938959C>T	ENST00000423743.3	+	19	2722	c.2464C>T	c.(2464-2466)Cca>Tca	p.P822S	KIAA0586_ENST00000261244.5_Missense_Mutation_p.P790S|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P919S|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P851S|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	790										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTGAAGTTTCCAGGAACTAA	0.318000													9	10					0	0	0.000673	0	0
EAF2	55840	broad.mit.edu	37	3	121575903	121575903	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121575903A>G	ENST00000273668.2	+	4	455	c.384A>G	c.(382-384)caA>caG	p.Q128Q	EAF2_ENST00000451944.2_Silent_p.Q128Q	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	128	Poly-Gln.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACAACAGCAACAACAAATGT	0.358000													23	53					0	0	0.002299	0	0
MOCS2	4338	broad.mit.edu	37	5	52402945	52402945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52402945G>A	ENST00000361377.4	-	3	288	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	MOCS2_ENST00000510818.2_Missense_Mutation_p.P83S|MOCS2_ENST00000582677.1_Missense_Mutation_p.P83S|MOCS2_ENST00000450852.3_Missense_Mutation_p.P83S|MOCS2_ENST00000584946.1_Missense_Mutation_p.P83S|MOCS2_ENST00000508922.1_Missense_Mutation_p.P83S|MOCS2_ENST00000396954.3_Silent_p.S20S			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	83					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CTAATGGGGGGGATAACGGCA	0.428000													20	59					0	0	0.002780	0	0
SPATA5	166378	broad.mit.edu	37	4	123855400	123855400	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123855400C>T	ENST00000274008.3	+	5	723	c.654C>T	c.(652-654)gcC>gcT	p.A218A	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	218					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAGAATGGCCTTTGAACAGT	0.498000													22	41					0	0	0.002780	0	0
MAP1B	4131	broad.mit.edu	37	5	71494434	71494434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:71494434C>T	ENST00000296755.7	+	5	5550	c.5252C>T	c.(5251-5253)tCc>tTc	p.S1751F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1751						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATACTCTATCCGATGTTGCT	0.483000													47	97					0	0	0.003610	0	0
CDH13	1012	broad.mit.edu	37	16	83816972	83816972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83816972G>A	ENST00000566620.1	+	13	2319	c.2029G>A	c.(2029-2031)Gta>Ata	p.V677I	CDH13_ENST00000268613.10_Missense_Mutation_p.V724I|CDH13_ENST00000428848.3_Missense_Mutation_p.V638I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	677	Cadherin 5.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGATCTCAGGGTACAAGTGTG	0.527000													14	31					0	0	0.002450	0	0
TRIM36	55521	broad.mit.edu	37	5	114482906	114482906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:114482906G>A	ENST00000513154.1	-	3	774	c.448C>T	c.(448-450)Cca>Tca	p.P150S	TRIM36_ENST00000514154.1_Missense_Mutation_p.P7S|TRIM36_ENST00000282369.3_Missense_Mutation_p.P162S|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	162						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TGAGGTGGTGGTTTACAAAGG	0.418000													35	88					0	0	0.007835	0	0
POLR3A	11128	broad.mit.edu	37	10	79782129	79782129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:79782129G>A	ENST00000372371.3	-	6	796	c.659C>T	c.(658-660)cCc>cTc	p.P220L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	220					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACTACTAAGGGATTCAAGTT	0.393000													15	44					0	0	0.001523	0	0
MYH4	4622	broad.mit.edu	37	17	10348625	10348625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10348625G>A	ENST00000255381.2	-	36	5334	c.5224C>T	c.(5224-5226)Cag>Tag	p.Q1742*	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1742					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						ATCTCTCCCTGGATTTGGGAA	0.443000													38	85					0	0	0.006230	0	0
PCDH18	54510	broad.mit.edu	37	4	138453173	138453173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138453173C>T	ENST00000344876.4	-	1	456	c.70G>A	c.(70-72)Gat>Aat	p.D24N	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D24N|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	24					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCAGTACATCGTGGTTGAAA	0.383000													39	55					0	0	0.001951	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:107022168G>A	ENST00000369701.3	+	26	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000													8	29					0	0	0.003080	0	0
LRRC55	219527	broad.mit.edu	37	11	56949561	56949561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56949561C>T	ENST00000497933.1	+	1	341	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	35	LRRNT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTGCTGATCTCCCTCCTCTTG	0.647000													4	12					0	0	0.000248	0	0
PASD1	139135	broad.mit.edu	37	X	150840119	150840119	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150840119G>A	ENST00000370357.4	+	13	1550	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	435						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAACAACAGAAACAACACG	0.483000													45	37					0	0	0.002522	0	0
CD177	57126	broad.mit.edu	37	19	43859892	43859892	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43859892G>A	ENST00000378009.4	+	0	501				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGCCCCAAGGGGACCACAC	0.577000													13	32					0	0	0.001855	0	0
DUSP22	56940	broad.mit.edu	37	6	348797	348797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:348797G>A	ENST00000604971.1	+	4	1268	c.155G>A	c.(154-156)gGa>gAa	p.G52E	DUSP22_ENST00000603453.1_Missense_Mutation_p.G52E|DUSP22_ENST00000419235.2_Missense_Mutation_p.G155E|DUSP22_ENST00000344450.5_Missense_Mutation_p.G155E|DUSP22_ENST00000605315.1_Missense_Mutation_p.G52E|DUSP22_ENST00000605035.1_3'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	155					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAAGAATATGGAGAGAGCCCT	0.557000													9	48					0	0	0.001368	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962913	94962913	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94962913A>G	ENST00000341228.2	-	4	1497	c.702T>C	c.(700-702)agT>agC	p.S234S	SERPINA12_ENST00000556881.1_Silent_p.S234S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	234					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTTGACTGAACTGTTTTTCT	0.398000													38	79					0	0	0.006999	0	0
BIRC6	57448	broad.mit.edu	37	2	32740464	32740464	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32740464T>A	ENST00000421745.2	+	55	11110	c.10976T>A	c.(10975-10977)aTt>aAt	p.I3659N		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3659					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCAATAGATATTTCCCAGGAC	0.438000													11	18					0	0	0.000673	0	0
MOV10L1	54456	broad.mit.edu	37	22	50598148	50598148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50598148G>A	ENST00000262794.5	+	24	3341	c.3258G>A	c.(3256-3258)atG>atA	p.M1086I	MOV10L1_ENST00000545383.1_Missense_Mutation_p.M1086I|MOV10L1_ENST00000395858.3_Missense_Mutation_p.M1086I|MOV10L1_ENST00000540615.1_Missense_Mutation_p.M1066I|MOV10L1_ENST00000395852.1_Missense_Mutation_p.M213I	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1086					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.M1086I(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGATCTGATGGATATAAAGG	0.388000													40	55					0	0	0.002222	0	0
ROCK2	9475	broad.mit.edu	37	2	11332715	11332715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11332715G>A	ENST00000315872.6	-	31	4259	c.3811C>T	c.(3811-3813)Cca>Tca	p.P1271S	ROCK2_ENST00000401753.1_Missense_Mutation_p.P1028S	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1271	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGTTGGTTGGGAAATGATAA	0.423000													12	24					0	0	0.000978	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593635	183593635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183593635G>A	ENST00000264065.6	+	7	962	c.547G>A	c.(547-549)Gct>Act	p.A183T	DNAJC10_ENST00000537515.1_Missense_Mutation_p.A183T	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	183	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCGAATTGGAGCTGTTAACTG	0.403000													32	63					0	0	0.002836	0	0
HEG1	57493	broad.mit.edu	37	3	124689556	124689556	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124689556G>A	ENST00000311127.4	-	17	4153	c.4086C>T	c.(4084-4086)ttC>ttT	p.F1362F		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1362						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						ACTGTCCGGGGAAAATGCAAG	0.493000													5	13					0	0	0.001168	0	0
FAT1	2195	broad.mit.edu	37	4	187517822	187517822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187517822G>A	ENST00000441802.2	-	25	13081	c.12872C>T	c.(12871-12873)tCt>tTt	p.S4291F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4291					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCGTGCACAGACTCGGGGTT	0.557000										HNSCC(5;0.00058)			12	11					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76421532	76421532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76421532G>A	ENST00000389840.5	-	80	13229	c.13105C>T	c.(13105-13107)Ccc>Tcc	p.P4369S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P4341S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTCCAGGGGCCACTCGTTC	0.592000													22	48					0	0	0.002780	0	0
FAM35A	54537	broad.mit.edu	37	10	88946957	88946957	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88946957G>A	ENST00000298786.4	+	9	2629	c.2515_splice	c.e9+1	p.V839_splice	FAM35A_ENST00000298784.1_Splice_Site_p.V770_splice			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	770										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CAGAGTGATAGGTAATATATC	0.368000													8	24					0	0	0.000673	0	0
TMEM199	147007	broad.mit.edu	37	17	26686008	26686008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26686008C>T	ENST00000292114.3	+	2	371	c.281C>T	c.(280-282)cCa>cTa	p.P94L	TMEM199_ENST00000509083.1_Missense_Mutation_p.P94L|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000395404.3_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	94						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTGAAGCCTCCACGGGTATGT	0.398000													18	31					0	0	0.007413	0	0
CTCFL	140690	broad.mit.edu	37	20	56078656	56078656	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56078656A>T	ENST00000429804.2	-	9	2086	c.1524_splice	c.e9-1	p.I509_splice	CTCFL_ENST00000433949.2_Splice_Site_p.I559_splice|CTCFL_ENST00000422109.2_Splice_Site_p.D427_splice|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000502686.2_Splice_Site_p.I297_splice|CTCFL_ENST00000423479.2_Splice_Site_p.I559_splice|CTCFL_ENST00000371196.2_Splice_Site_p.I559_splice|CTCFL_ENST00000243914.3_Splice_Site_p.I559_splice	NM_001269046.1	NP_001255975.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	559					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGCAGGTTAATCTGTCGGAG	0.527000													25	36					0	0	0.003330	0	0
RFXANK	8625	broad.mit.edu	37	19	19307806	19307806	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19307806C>T	ENST00000303088.4	+	4	696	c.222C>T	c.(220-222)acC>acT	p.T74T	RFXANK_ENST00000353145.1_Silent_p.T73T|RFXANK_ENST00000392324.4_Silent_p.T73T|RFXANK_ENST00000407360.3_Silent_p.T74T|RFXANK_ENST00000456252.3_Silent_p.T74T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			CCACTCTCACCAACCGGCAGC	0.612000													14	56					0	0	0.001855	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438008	42438008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42438008C>T	ENST00000397272.3	-	15	1725	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R543Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	543	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGCAGCAATCGTCCCATGAA	0.622000													12	34					0	0	0.001368	0	0
INADL	10207	broad.mit.edu	37	1	62237271	62237271	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:62237271C>T	ENST00000371158.2	+	6	807	c.693C>T	c.(691-693)agC>agT	p.S231S	INADL_ENST00000316485.6_Silent_p.S231S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	231					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTCTAGCAGCCTAAATGATA	0.378000													5	26					0	0	0.000602	0	0
STK36	27148	broad.mit.edu	37	2	219561253	219561253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:219561253C>T	ENST00000295709.3	+	22	2794	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	STK36_ENST00000440309.1_Missense_Mutation_p.R839W|STK36_ENST00000392105.3_Intron|STK36_ENST00000392106.2_Intron	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	839			R -> Q (in dbSNP:rs13023540).		cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGACAGGTTCGGTTGACTCC	0.502000													29	72					0	0	0.001512	0	0
CPNE7	27132	broad.mit.edu	37	16	89645382	89645382	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89645382A>T	ENST00000268720.5	+	3	605	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	CPNE7_ENST00000319518.8_Intron	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	159					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCTTGCCAGGACGGGTCCTTC	0.552000													5	32					0	0	0.001168	0	0
CASC5	57082	broad.mit.edu	37	15	40913706	40913706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40913706C>T	ENST00000346991.5	+	11	1712	c.1322C>T	c.(1321-1323)tCt>tTt	p.S441F	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S415F			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	441	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.S441Y(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCCCAGAATCTATATATTCT	0.358000													20	112					0	0	0.002299	0	0
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89400745C>T	ENST00000439576.2	+	12	5303	c.4929C>T	c.(4927-4929)ccC>ccT	p.P1643P	ACAN_ENST00000561243.1_Silent_p.P1643P|ACAN_ENST00000559004.1_Silent_p.P1643P|ACAN_ENST00000352105.7_Silent_p.P1643P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1643					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522000													28	80					0	0	0.001512	0	0
EPYC	1833	broad.mit.edu	37	12	91366696	91366696	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:91366696T>C	ENST00000261172.3	-	4	494	c.402A>G	c.(400-402)gaA>gaG	p.E134E		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	134	LRRNT.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TAGCATCAAGTTCATGGTCAT	0.353000													38	87					0	0	0.003214	0	0
TAF3	83860	broad.mit.edu	37	10	7860672	7860672	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:7860672G>A	ENST00000344293.5	+	0	206					NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa						maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CACGCAGCGGGATGTGCGAGA	0.677000													7	22					0	0	0.003080	0	0
PROCR	10544	broad.mit.edu	37	20	33764058	33764058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33764058G>A	ENST00000216968.4	+	3	492	c.410G>A	c.(409-411)gGg>gAg	p.G137E	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	137					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTGTGAATGGGAGCTCCTTT	0.597000													43	61					0	0	0.002222	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779559	97779559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:97779559G>A	ENST00000344386.3	+	8	922	c.758G>A	c.(757-759)gGa>gAa	p.G253E	ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.G253E|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	253										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AACGTTCAAGGAACAAAAATA	0.338000													26	94					0	0	0.005443	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487439	110487439	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110487439T>A	ENST00000378402.5	+	51	8802	c.8698T>A	c.(8698-8700)Ttt>Att	p.F2900I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2900					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAACTGGTATTTTAAAGGTGT	0.328000										HNSCC(38;0.096)			23	44					0	0	0.002299	0	0
NMUR2	56923	broad.mit.edu	37	5	151777644	151777644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151777644C>T	ENST00000255262.3	-	2	953	c.788G>A	c.(787-789)aGa>aAa	p.R263K	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACTGATTTTCTGCAGGGTCT	0.378000													15	48					0	0	0.006122	0	0
SNX29	92017	broad.mit.edu	37	16	12371844	12371844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:12371844G>A	ENST00000566228.1	+	15	1802	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	SNX29_ENST00000306030.3_Missense_Mutation_p.G193E|SNX29_ENST00000323433.4_Missense_Mutation_p.G193E	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	193					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CAGAAGCCGGGAGAAATTGCT	0.443000													5	4					0	0	0.001984	0	0
RPL21	6144	broad.mit.edu	37	13	27828363	27828363	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27828363T>C	ENST00000311549.6	+	3	363	c.74T>C	c.(73-75)gTt>gCt	p.V25A	RPL21_ENST00000319826.4_Missense_Mutation_p.V25A|RPL21_ENST00000272274.4_Missense_Mutation_p.V25A|RPL21_ENST00000326092.4_Missense_Mutation_p.V25A	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		GTAGGAGTTGTTCCTTTGGCC	0.284000													53	87					0	0	0.003610	0	0
GP2	2813	broad.mit.edu	37	16	20335546	20335546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335546C>T	ENST00000302555.5	-	3	276	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	GP2_ENST00000381362.4_Missense_Mutation_p.G43R|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	43						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGTCCAGCCCATACGAACTG	0.532000													14	21					0	0	0.002450	0	0
ZNF99	7652	broad.mit.edu	37	19	22939527	22939527	+	Missense_Mutation	SNP	G	G	A	rs75920856		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22939527G>A	ENST00000397104.3	-	7	2643	c.2644C>T	c.(2644-2646)Cat>Tat	p.H882Y						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCCAGTATGAATTATCTTA	0.348000													18	35					0	0	0.001216	0	0
FOXO4	4303	broad.mit.edu	37	X	70321417	70321417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:70321417C>T	ENST00000374259.3	+	2	1669	c.1337C>T	c.(1336-1338)cCc>cTc	p.P446L	FOXO4_ENST00000341558.3_Missense_Mutation_p.P391L	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	446					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GCCCCCATCCCCAAGGCTCTG	0.567000													25	7					0	0	0.002780	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734989	81734989	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81734989T>C	ENST00000550584.2	-	19	2558		c.e19-2		PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000333447.7_Splice_Site	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2											NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AACTGCAATCTAGAAGCAAAA	0.378000													24	58					0	0	0.006320	0	0
RASSF2	9770	broad.mit.edu	37	20	4773227	4773227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:4773227C>T	ENST00000379400.3	-	6	529	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	RASSF2_ENST00000379376.2_Missense_Mutation_p.V112M|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	112					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGGGCATCCACCTCTGAGATC	0.567000													12	27					0	0	0.004007	0	0
OGFRL1	79627	broad.mit.edu	37	6	72006410	72006410	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:72006410C>T	ENST00000370435.4	+	6	716	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	194						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTAGAAGATTCCTCCTGGCTT	0.333000													13	36					0	0	0.001855	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787122	121787122	+	Silent	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121787122T>A	ENST00000261367.7	+	12	4149	c.2721T>A	c.(2719-2721)ccT>ccA	p.P907P	SNCAIP_ENST00000379536.2_Silent_p.P800P|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.P907P|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.P494P|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Silent_p.P418P|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.P462P|SNCAIP_ENST00000261368.8_Silent_p.P860P|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	860					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGAAAAGGCCTTTTGGAGCCT	0.463000													25	53					0	0	0.003330	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231754	142231754	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142231754G>A	ENST00000390364.3	-	0	230																											AGGTCTTGTCGATACCAGAAC	0.488000													40	95					0	0	0.003610	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601005	183601005	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183601005C>T	ENST00000264065.6	+	11	1294	c.879C>T	c.(877-879)gaC>gaT	p.D293D	DNAJC10_ENST00000537515.1_Silent_p.D293D	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	293					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GATGGATGGACTGTGCCACCC	0.363000													20	57					0	0	0.001882	0	0
DOCK1	1793	broad.mit.edu	37	10	128807059	128807059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:128807059C>T	ENST00000280333.6	+	11	1158	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	350					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATTTCATTCCCTTTCAGCCG	0.318000													4	14					0	0	0.000248	0	0
ANK3	288	broad.mit.edu	37	10	62039349	62039349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:62039349C>T	ENST00000280772.1	-	2	354	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ANK3_ENST00000373827.2_Missense_Mutation_p.E49K|ANK3_ENST00000503366.1_Missense_Mutation_p.E38K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	55					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						AGGGCCTTTTCAAGGTGTCCA	0.328000													58	122					0	0	0.003610	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000													27	51					0	0	0.006320	0	0
FBLN1	2192	broad.mit.edu	37	22	45996225	45996225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45996225C>T	ENST00000348697.2	+	20	2158	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	FBLN1_ENST00000327858.6_Missense_Mutation_p.H671Y			P23142	FBLN1_HUMAN	fibulin 1	671					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGGCCCATTTCATGCCGTCCT	0.572000													80	167					0	0	0.003610	0	0
RSPH1	89765	broad.mit.edu	37	21	43896032	43896032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43896032C>T	ENST00000291536.3	-	8	1020	c.853G>A	c.(853-855)Gag>Aag	p.E285K	RSPH1_ENST00000398352.3_Missense_Mutation_p.E247K	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	285					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TAGCGGAACTCCTCCTGGTCA	0.622000													5	37					0	0	0.000602	0	0
OR1A1	8383	broad.mit.edu	37	17	3119115	3119115	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119115C>T	ENST00000304094.1	+	1	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCAACCTCTCCTTGGTTGACA	0.483000													37	153					0	0	0.002522	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967746	1967746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:1967746C>T	ENST00000382722.5	-	20	2367	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E644K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E605K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E669K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E605K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E530K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	669						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GACCCACCTTCTTCCACAGAC	0.582000													13	25					0	0	0.002450	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396221	101396221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:101396221C>T	ENST00000372774.3	-	3	332	c.83G>A	c.(82-84)gGa>gAa	p.G28E	TCEAL6_ENST00000372773.1_Missense_Mutation_p.G28E	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	28	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						gtctgactttccttcatcatc	0.473000													6	3					0	0	0.001168	0	0
EGR2	1959	broad.mit.edu	37	10	64573881	64573881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64573881G>A	ENST00000242480.3	-	2	842	c.517C>T	c.(517-519)Cct>Tct	p.P173S	EGR2_ENST00000411732.1_Missense_Mutation_p.P123S|EGR2_ENST00000439032.1_Missense_Mutation_p.P173S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	173					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCAGAATAAGGAGGAGGAGGC	0.637000													29	53					0	0	0.005443	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090459	238090459	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:238090459G>A	ENST00000450451.1	+	0	1965					NR_027247.2																						AGGCCTGCCCGAACCCCAAGG	0.577000													14	13					0	0	0.002450	0	0
INSIG1	3638	broad.mit.edu	37	7	155094039	155094039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:155094039C>T	ENST00000340368.4	+	4	827	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	INSIG1_ENST00000342407.5_Intron|INSIG1_ENST00000344756.4_Missense_Mutation_p.R54C	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	206					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	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)		GACATTTGATCGTTCCAGAAG	0.443000													21	38					0	0	0.001523	0	0
USP19	10869	broad.mit.edu	37	3	49154225	49154225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49154225G>A	ENST00000453664.1	-	7	1349	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	USP19_ENST00000398892.3_Missense_Mutation_p.P291L|USP19_ENST00000398898.2_Missense_Mutation_p.P291L|USP19_ENST00000398896.1_Missense_Mutation_p.P59L|USP19_ENST00000398888.2_Missense_Mutation_p.P253L|USP19_ENST00000434032.2_Missense_Mutation_p.P354L|USP19_ENST00000417901.1_Missense_Mutation_p.P354L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	253	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTTCCCAGGGTTTCTGCT	0.587000													16	25					0	0	0.006122	0	0
C15orf32	145858	broad.mit.edu	37	15	93043629	93043629	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:93043629G>A	ENST00000333334.2	+	3	1031	c.536G>A	c.(535-537)tGa>tAa	p.*179*	C15orf32_ENST00000556865.1_3'UTR	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	0										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGCTTGAGCTGAATGCTGGAT	0.453000													11	82					0	0	0.001368	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457279	6457279	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6457279G>A	ENST00000358945.3	-	13	2276	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	SCNN1A_ENST00000228916.2_Silent_p.S590S|SCNN1A_ENST00000543768.1_Silent_p.S613S|SCNN1A_ENST00000360168.3_Silent_p.S649S|SCNN1A_ENST00000540037.1_Silent_p.S290S|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	590					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACCAGTATCGGCTTCGGAACC	0.617000													8	18					0	0	0.003080	0	0
TRIM58	25893	broad.mit.edu	37	1	248039598	248039598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248039598C>T	ENST00000366481.3	+	6	1316	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	423	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGAAATTTCATTCTACAAT	0.438000													47	102					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117246789	117246789	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:117246789C>T	ENST00000003084.6	+	18	3102	c.2970C>T	c.(2968-2970)acC>acT	p.T990T	CFTR_ENST00000454343.1_Silent_p.T929T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	990	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGCCTCTTACCATATTTGACT	0.289000									Cystic Fibrosis				53	132					0	0	0.003610	0	0
MARCH10	162333	broad.mit.edu	37	17	60814024	60814024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60814024G>A	ENST00000544856.2	-	7	1580	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S402L|MARCH10_ENST00000583600.1_Missense_Mutation_p.S440L|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.S402L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	402							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGTGTCCCACGAAAGAGGGCT	0.512000													30	38					0	0	0.002096	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030294	10030294	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030294C>T	ENST00000378380.3	+	6	1406	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.F359F	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AGAACGACTTCGTGATGGTGT	0.527000													22	79					0	0	0.002299	0	0
LAMP1	3916	broad.mit.edu	37	13	113975755	113975755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:113975755C>T	ENST00000332556.4	+	7	1107	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	LAMP1_ENST00000397181.3_Nonsense_Mutation_p.Q252*	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	305	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACAAGGAATCCAGTTGAATAC	0.488000													20	60					0	0	0.002299	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828154	160828154	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160828154C>T	ENST00000392145.1	+	3	642	c.615C>T	c.(613-615)ttC>ttT	p.F205F	SLC22A3_ENST00000275300.2_Silent_p.F205F			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	205						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)		CACCAAACTTCCCTGTGTTTG	0.478000													24	98					0	0	0.003954	0	0
FSTL5	56884	broad.mit.edu	37	4	162841791	162841791	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162841791C>T	ENST00000306100.5	-	4	610	c.174G>A	c.(172-174)caG>caA	p.Q58Q	FSTL5_ENST00000427802.2_Silent_p.Q57Q|FSTL5_ENST00000536695.1_Silent_p.Q57Q|FSTL5_ENST00000379164.4_Silent_p.Q57Q	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	58						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGGGCCATCCTGAATCATAA	0.368000													7	29					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9082654	9082654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9082654G>A	ENST00000397910.4	-	1	9364	c.9161C>T	c.(9160-9162)tCa>tTa	p.S3054L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3055	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						AAGAAATAGTGAAGTCTTTCT	0.478000													28	94					0	0	0.001512	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447215	10447215	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:10447215G>A	ENST00000326756.3	-	3	1176	c.738C>T	c.(736-738)tcC>tcT	p.S246S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TCCGTGGATTGGAAGCTTTTA	0.433000													69	123					0	0	0.003610	0	0
ABCB6	10058	broad.mit.edu	37	2	220080739	220080739	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220080739G>A	ENST00000265316.3	-	5	1450	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	ABCB6_ENST00000439002.2_Silent_p.S332S	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	378	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTGACACTGGATGTGCCCC	0.667000													5	9					0	0	0.001984	0	0
TFRC	7037	broad.mit.edu	37	3	195794506	195794506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195794506G>A	ENST00000360110.4	-	9	1092	c.923C>T	c.(922-924)cCt>cTt	p.P308L	TFRC_ENST00000535031.1_Missense_Mutation_p.P26L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.P308L|TFRC_ENST00000420415.1_Missense_Mutation_p.P227L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	308	PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AGGTGTGTAAGGGTCACCTGT	0.453000			T	BCL6	NHL								24	48					0	0	0.004656	0	0
MAEL	84944	broad.mit.edu	37	1	166974571	166974571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:166974571C>T	ENST00000367872.4	+	8	1026	c.782C>T	c.(781-783)cCc>cTc	p.P261L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.P230L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	261					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTCAAGGAGCCCTCTAAGACT	0.398000													25	38					0	0	0.004656	0	0
SENP5	205564	broad.mit.edu	37	3	196612362	196612362	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:196612362T>C	ENST00000323460.5	+	2	559	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.F104L	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	104					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CGCTAAACACTTCATTTCCTC	0.408000													19	38					0	0	0.007413	0	0
DNMT1	1786	broad.mit.edu	37	19	10260594	10260594	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10260594G>A	ENST00000340748.4	-	24	2503	c.2268C>T	c.(2266-2268)acC>acT	p.T756T	DNMT1_ENST00000359526.4_Silent_p.T772T|DNMT1_ENST00000540357.1_Silent_p.T756T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	756	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCACTTCCAGGGTTTCCGCAT	0.438000													20	66					0	0	0.002299	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916315	88916315	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:88916315G>A	ENST00000277141.6	-	27	4587	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ZCCHC6_ENST00000375961.2_Silent_p.I1394I|ZCCHC6_ENST00000375963.3_Silent_p.I1432I|ZCCHC6_ENST00000375960.2_Silent_p.I1196I|ZCCHC6_ENST00000375957.1_Silent_p.I332I			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1432					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCCTGAGGATCTTCTCCC	0.458000													12	26					0	0	0.001368	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816408	67816408	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67816408C>T	ENST00000265686.3	+	14	1725	c.1617C>T	c.(1615-1617)gtC>gtT	p.V539V	TCIRG1_ENST00000532635.1_Silent_p.V323V	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	539					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						AGATGTCCGTCATCCTGGGCG	0.632000													46	89					0	0	0.003610	0	0
MCC	4163	broad.mit.edu	37	5	112389430	112389430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112389430C>T	ENST00000302475.4	-	13	2433	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.A814T|MCC_ENST00000515367.2_Missense_Mutation_p.A561T	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	624					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACCTTCATGGCCATGAGCTCC	0.537000													8	30					0	0	0.003080	0	0
C9orf135	138255	broad.mit.edu	37	9	72520940	72520940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72520940G>A	ENST00000377197.3	+	6	665	c.578G>A	c.(577-579)gGt>gAt	p.G193D	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	193						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GATCTAAATGGTTCTAAAAGA	0.378000													24	57					0	0	0.005443	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270240	18270240	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:18270240G>A	ENST00000377369.2	+	6	1197		c.e6-1		SLC39A12_ENST00000377374.4_Splice_Site|SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Splice_Site	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCTCACACAGACCTGCTTCT	0.428000													13	53					0	0	0.004007	0	0
ANP32D	23519	broad.mit.edu	37	12	48866508	48866508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48866508G>A	ENST00000266594.1	+	1	61	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	21										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						CGATGTGAAAGAACTTTTCCT	0.458000													47	113					0	0	0.003214	0	0
TTN	7273	broad.mit.edu	37	2	179640461	179640461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179640461C>T	ENST00000589042.1	-	28	6354	c.6130G>A	c.(6130-6132)Gag>Aag	p.E2044K	TTN_ENST00000360870.5_Missense_Mutation_p.E2044K|TTN_ENST00000591111.1_Missense_Mutation_p.E2044K|TTN_ENST00000460472.2_Missense_Mutation_p.E1998K|TTN_ENST00000342175.6_Missense_Mutation_p.E1998K|TTN_ENST00000342992.6_Missense_Mutation_p.E2044K|TTN_ENST00000359218.5_Missense_Mutation_p.E1998K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1805							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)			TCAGTTAACTCTTTGGTCCAG	0.433000													42	108					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38888977	38888977	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38888977G>A	ENST00000302328.3	-	26	4782	c.4584C>T	c.(4582-4584)atC>atT	p.I1528I	SCN11A_ENST00000456224.3_Silent_p.I1490I|SCN11A_ENST00000450244.1_Silent_p.I1528I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1528					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)	ATATGTCATCGATTCCAGACT	0.443000													38	18					0	0	0.007835	0	0
POU4F3	5459	broad.mit.edu	37	5	145719180	145719180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145719180G>A	ENST00000230732.4	+	2	279	c.190G>A	c.(190-192)Gat>Aat	p.D64N	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	64					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCGGCGGTGGATATCGTCTC	0.602000													24	53					0	0	0.003954	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97339081	97339081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97339081G>A	ENST00000316149.7	-	3	506	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	143					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TGTTCTAACTGGTATTCCTGC	0.353000													10	44					0	0	0.000978	0	0
CACNA1I	8911	broad.mit.edu	37	22	40030692	40030692	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40030692C>T	ENST00000336649.4	+	7	703	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	CACNA1I_ENST00000400164.3_Silent_p.L235L|CACNA1I_ENST00000404898.1_Silent_p.L235L|CACNA1I_ENST00000402142.3_Silent_p.L235L|CACNA1I_ENST00000407673.1_Silent_p.L235L|CACNA1I_ENST00000401624.1_Silent_p.L235L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	235					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCGGGCCTGCTGCGTAACCG	0.552000													24	60					0	0	0.004656	0	0
OR6T1	219874	broad.mit.edu	37	11	123813845	123813845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123813845C>T	ENST00000321252.2	-	1	735	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CGCTTTCCTTCGCTCAGCAGC	0.517000													19	35					0	0	0.006122	0	0
NLRP13	126204	broad.mit.edu	37	19	56413448	56413448	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56413448G>A	ENST00000588751.1	-	9	2766	c.2742C>T	c.(2740-2742)ttC>ttT	p.F914F	NLRP13_ENST00000342929.3_Silent_p.F914F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	914							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCACACAGGAACTTGACTC	0.547000													15	46					0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882330	228882330	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882330G>A	ENST00000392056.3	-	7	3286	c.3240C>T	c.(3238-3240)gcC>gcT	p.A1080A	SPHKAP_ENST00000344657.5_Silent_p.A1080A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1080						cytoplasm	protein binding	p.A1080A(2)		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)		CGCAGCTGGAGGCCTTCAGCC	0.612000													16	48					0	0	0.004990	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15579529	15579529	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15579529T>C	ENST00000340880.4	-	5	2156	c.1676A>G	c.(1675-1677)aAg>aGg	p.K559R	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	559					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCTGGATCTCTTAGAGACACT	0.532000													48	117					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21856200	21856200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21856200C>T	ENST00000328843.6	+	65	10500	c.10469C>T	c.(10468-10470)gCc>gTc	p.A3490V	DNAH11_ENST00000409508.3_Missense_Mutation_p.A3483V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3490	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGAAAATGCCGCTATCCTA	0.493000									Kartagener syndrome				7	36					0	0	0.001984	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633198	51633198	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51633198C>T	ENST00000250360.3	+	7	1321	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	418					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCAGCCTCCCCCAGCTTCTG	0.622000													23	56					0	0	0.002780	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994564	45994564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45994564C>T	ENST00000400374.3	+	1	959	c.929C>T	c.(928-930)tCc>tTc	p.S310F	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	310	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCTGCACCTCCTCCCAAAGC	0.617000													32	41					0	0	0.002096	0	0
PODN	127435	broad.mit.edu	37	1	53535775	53535775	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53535775G>C	ENST00000371500.3	+	4	676	c.335G>C	c.(334-336)gGc>gCc	p.G112A	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.G131A|PODN_ENST00000312553.5_Missense_Mutation_p.G131A	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	83					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGACTGTGGCGGTATTGAC	0.682000													20	39					0	0	0.002299	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528446	65528446	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528446T>A	ENST00000310193.3	-	3	825	c.652A>T	c.(652-654)Aaa>Taa	p.K218*		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	218					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TCATCAAATTTTAAAAAATCA	0.284000													19	40					0	0	0.001216	0	0
CMYA5	202333	broad.mit.edu	37	5	79030981	79030981	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79030981A>G	ENST00000446378.2	+	2	6424	c.6393A>G	c.(6391-6393)caA>caG	p.Q2131Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2131						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACCCACACAAAGAAAACCCA	0.443000													19	66					0	0	0.001216	0	0
OVCH2	341277	broad.mit.edu	37	11	7723023	7723023	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7723023C>T	ENST00000454689.1	-	0	559				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		AGGACGCCACCTGAAAAACAG	0.473000													3	6					0	0	0.000248	0	0
SPINK13	153218	broad.mit.edu	37	5	147649648	147649648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147649648C>T	ENST00000512953.1	+	3	544	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_5'UTR|SPINK13_ENST00000398450.4_Missense_Mutation_p.P5S			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	5						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						GGCTGCCTTTCCCCACAAGAT	0.403000													22	106					0	0	0.002299	0	0
CMYA5	202333	broad.mit.edu	37	5	79026021	79026021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:79026021C>T	ENST00000446378.2	+	2	1464	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	478						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCTACCCATCCCAGTGTCAAA	0.468000													46	78					0	0	0.003610	0	0
BFSP2	8419	broad.mit.edu	37	3	133191377	133191377	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133191377C>T	ENST00000302334.2	+	6	1301	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	404	Tail.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ACGTGGCGTCCTACCACGCCC	0.577000													10	23					0	0	0.000978	0	0
NBR1	4077	broad.mit.edu	37	17	41343547	41343547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41343547C>T	ENST00000422280.1	+	10	1481	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	NBR1_ENST00000590996.1_Missense_Mutation_p.P341L|NBR1_ENST00000542611.1_Missense_Mutation_p.P320L|NBR1_ENST00000389312.4_Missense_Mutation_p.P341L|NBR1_ENST00000341165.6_Missense_Mutation_p.P341L|NBR1_ENST00000589872.1_Missense_Mutation_p.P341L	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	341					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTCCAGAGCCCCAAGTCTCCT	0.488000													7	9					0	0	0.003080	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345089	135345089	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:135345089G>A	ENST00000463117.2	+	5	610	c.337_splice	c.e5-1	p.G113_splice	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Splice_Site_p.G113_splice|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	113					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TCTGCCTTAGGAATCATTTTT	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				24	99					0	0	0.003954	0	0
ADAM18	8749	broad.mit.edu	37	8	39564342	39564342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39564342C>T	ENST00000265707.5	+	18	1981	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P622S|ADAM18_ENST00000541111.1_Missense_Mutation_p.P60S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	646	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCAATGCTTCCCTGGACATAG	0.353000													28	66					0	0	0.002096	0	0
SEC61A2	55176	broad.mit.edu	37	10	12206359	12206359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12206359G>A	ENST00000379033.3	+	11	1418	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	SEC61A2_ENST00000298428.9_Missense_Mutation_p.G446E|SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G380E	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	446						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TCTGGCACTGGAATTCTGCTA	0.483000													139	328					0	0	0.003610	0	0
ZGPAT	84619	broad.mit.edu	37	20	62339959	62339959	+	Silent	SNP	C	C	T	rs148155917		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62339959C>T	ENST00000328969.5	+	2	154	c.27C>T	c.(25-27)gcC>gcT	p.A9A	ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Silent_p.A9A|ZGPAT_ENST00000448100.1_Silent_p.A9A|ZGPAT_ENST00000357119.4_Silent_p.A9A|ZGPAT_ENST00000355969.6_Silent_p.A9A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	9					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGGAGTCGGCCTTGCAGACCT	0.687000													30	27					0	0	0.002445	0	0
ITPKC	80271	broad.mit.edu	37	19	41223580	41223580	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41223580G>A	ENST00000263370.2	+	1	573	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	180						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AAACGCATGGGTCACAGACTC	0.617000													9	32					0	0	0.006214	0	0
TICAM1	148022	broad.mit.edu	37	19	4817964	4817964	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4817964G>A	ENST00000248244.5	-	2	655	c.426C>T	c.(424-426)aaC>aaT	p.N142N		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	142					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		ACCCACACCGGTTTCGGGCCT	0.677000													26	70					0	0	0.001786	0	0
ATXN1	6310	broad.mit.edu	37	6	16328446	16328446	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:16328446G>A	ENST00000244769.4	-	8	1032	c.96C>T	c.(94-96)acC>acT	p.T32T	ATXN1_ENST00000436367.1_Silent_p.T32T	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	32					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTGGGCAGGGTAGGGGCCT	0.682000													27	44					0	0	0.007291	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220411	79220411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:79220411C>T	ENST00000374759.3	-	16	2688	c.2305G>A	c.(2305-2307)Gcc>Acc	p.A769T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	769					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCTCCCTGGCCTTGCCTTCA	0.632000													18	69					0	0	0.001216	0	0
COL6A1	1291	broad.mit.edu	37	21	47407549	47407549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47407549G>A	ENST00000361866.3	+	8	899	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	262	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGGGGCTCCGGGGCGACCCC	0.692000													23	39					0	0	0.005443	0	0
OR51A2	401667	broad.mit.edu	37	11	4976459	4976459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4976459G>A	ENST00000380371.1	-	1	484	c.485C>T	c.(484-486)cCt>cTt	p.P162L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P162H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAAGTGAAAGGGAAGGGAAG	0.433000													34	195					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179600381	179600381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179600381C>T	ENST00000589042.1	-	50	15016	c.14792G>A	c.(14791-14793)gGg>gAg	p.G4931E	TTN_ENST00000591111.1_Missense_Mutation_p.G4614E|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G3687E|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4614	Ig-like 29.						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)			ATAATCTTTCCCTGGGGGGAG	0.413000													22	43					0	0	0.006320	0	0
SH2D5	400745	broad.mit.edu	37	1	21048471	21048471	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:21048471G>A	ENST00000375031.1	-	9	1458	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SH2D5_ENST00000444387.2_Silent_p.F362F|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	278	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTGGGGAACTCTGCCG	0.662000													10	12					0	0	0.001855	0	0
OVCH2	341277	broad.mit.edu	37	11	7726135	7726135	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7726135C>T	ENST00000454689.1	-	0	174				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAACCCTTCTCCACTTGGCTT	0.408000													12	14					0	0	0.001855	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584555	138584555	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:138584555G>A	ENST00000251691.4	+	12	2101	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	645	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACACCCCGGGACTGCCTAG	0.577000													29	44					0	0	0.001512	0	0
A2ML1	144568	broad.mit.edu	37	12	8995898	8995898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8995898G>A	ENST00000299698.7	+	12	1597	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	317						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTGCTGGTGGATTATTACAT	0.582000													14	45					0	0	0.003163	0	0
OR5F1	338674	broad.mit.edu	37	11	55761862	55761862	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55761862C>T	ENST00000278409.1	-	1	239	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGCCAGCATCTTTGGGGTGA	0.448000													25	52					0	0	0.003954	0	0
FBXL4	26235	broad.mit.edu	37	6	99353320	99353320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:99353320G>A	ENST00000369244.2	-	6	1513	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	FBXL4_ENST00000229971.1_Missense_Mutation_p.S362F			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	362					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCCTGCAACAGAGATGAAGCC	0.408000													30	98					0	0	0.002836	0	0
MOV10	4343	broad.mit.edu	37	1	113232670	113232670	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:113232670C>T	ENST00000369644.1	+	6	1647	c.618C>T	c.(616-618)acC>acT	p.T206T	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Silent_p.T262T|MOV10_ENST00000369645.1_Silent_p.T262T|MOV10_ENST00000357443.2_Silent_p.T262T			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	262					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCCGGATCACCGGAAACCCTG	0.607000													8	48					0	0	0.003080	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953125	92953125	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92953125G>A	ENST00000532405.1	+	14	1763		c.e14+1		SLC24A4_ENST00000298877.1_Splice_Site|SLC24A4_ENST00000351924.5_Splice_Site|SLC24A4_ENST00000393265.2_Splice_Site|SLC24A4_ENST00000531433.1_Splice_Site			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GCGAGACAAGGTATGGATTAT	0.532000													4	13					0	0	0.000602	0	0
MTMR3	8897	broad.mit.edu	37	22	30418657	30418657	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30418657C>T	ENST00000333027.3	+	18	3613	c.3285C>T	c.(3283-3285)ttC>ttT	p.F1095F	MTMR3_ENST00000351488.3_Silent_p.F1095F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.F1132F|MTMR3_ENST00000406629.1_Silent_p.F1095F|MTMR3_ENST00000323630.5_Silent_p.F996F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1132					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)			ACAGTGCCTTCTGGCTTGCCA	0.612000													7	20					0	0	0.004482	0	0
ATP10A	57194	broad.mit.edu	37	15	26026330	26026330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26026330G>A	ENST00000356865.6	-	2	601	c.490C>T	c.(490-492)Cac>Tac	p.H164Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	164					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTCCCACGTGGATTTCTTTC	0.493000													14	14					0	0	0.001855	0	0
DMPK	1760	broad.mit.edu	37	19	46281006	46281006	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46281006G>A	ENST00000600757.1	-	6	1518	c.831C>T	c.(829-831)ttC>ttT	p.F277F	DMPK_ENST00000447742.2_Silent_p.F267F|DMPK_ENST00000354227.5_Silent_p.F267F|DMPK_ENST00000458663.2_Silent_p.F267F|DMPK_ENST00000343373.4_Silent_p.F277F|DMPK_ENST00000291270.4_Silent_p.F267F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	277	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TTTCATAGGCGAATACACCCA	0.632000													42	78					0	0	0.007835	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593086	31593086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31593086C>T	ENST00000376033.2	+	6	836	c.602C>T	c.(601-603)cCc>cTc	p.P201L	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.P201L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	201	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						AGCCTCCGCCCCCAAAGTGAG	0.577000													15	46					0	0	0.004007	0	0
SERPINB4	6318	broad.mit.edu	37	18	61308203	61308203	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61308203T>A	ENST00000341074.5	-	5	489	c.374A>T	c.(373-375)aAa>aTa	p.K125I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.K125I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.K125T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTGGTAAAATTTCTTGATGGC	0.343000													27	57					0	0	0.006320	0	0
KCNE3	10008	broad.mit.edu	37	11	74168498	74168498	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:74168498C>T	ENST00000310128.4	-	3	530	c.111G>A	c.(109-111)ctG>ctA	p.L37L	RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Silent_p.L37L	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	37						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					TGTCTGGCCCCAGCCCTGGCC	0.542000													26	43					0	0	0.001512	0	0
ZBP1	81030	broad.mit.edu	37	20	56191424	56191424	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:56191424G>A	ENST00000340462.4	-	2	415	c.135C>T	c.(133-135)ctC>ctT	p.L45L	ZBP1_ENST00000343535.4_Silent_p.L45L|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Silent_p.L45L|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000371173.3_Silent_p.L45L			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	45						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGACTTGGTTGAGCTCCCTCT	0.572000													31	86					0	0	0.004289	0	0
RP1	6101	broad.mit.edu	37	8	55540040	55540040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55540040G>A	ENST00000220676.1	+	4	3746	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1200					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)			CAGTGAGAAAGAACAAGACAT	0.413000													28	55					0	0	0.002445	0	0
ATP13A5	344905	broad.mit.edu	37	3	192993015	192993015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:192993015C>T	ENST00000342358.4	-	30	3590	c.3473G>A	c.(3472-3474)aGg>aAg	p.R1158K	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1158					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTGCCAAGTCCTATATTGACT	0.398000													35	62					0	0	0.004289	0	0
NMBR	4829	broad.mit.edu	37	6	142399709	142399709	+	Missense_Mutation	SNP	C	C	G	rs145581958		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142399709C>G	ENST00000258042.1	-	2	894	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	252					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTGGTATGTTCATTGTATTCT	0.353000													9	25					0	0	0.000978	0	0
MAT1A	4143	broad.mit.edu	37	10	82039992	82039992	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82039992G>A	ENST00000372213.3	-	5	746	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	162					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTGCCATCCGGGCGTTGAGCT	0.607000													22	47					0	0	0.002299	0	0
TLL2	7093	broad.mit.edu	37	10	98188497	98188497	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98188497T>G	ENST00000357947.3	-	5	754	c.529A>C	c.(529-531)Agg>Cgg	p.R177R	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	177	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAAATGGCCCTCTGGCTCCCT	0.433000													11	28					0	0	0.000978	0	0
KLHL11	55175	broad.mit.edu	37	17	40010862	40010862	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40010862A>G	ENST00000319121.3	-	2	1317	c.1257T>C	c.(1255-1257)ttT>ttC	p.F419F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	419						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CAGTTTTAGCAAACCCTGGCT	0.398000													26	64					0	0	0.001512	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022671	73022671	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:73022671C>T	ENST00000263674.3	+	1	3338	c.2988C>T	c.(2986-2988)ccC>ccT	p.P996P		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	996	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCATCCCACGTTGCAGG	0.607000													14	31					0	0	0.002450	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535817	69535817	+	Nonsense_Mutation	SNP	G	G	A	rs138640811	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69535817G>A	ENST00000338206.5	-	1	529	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	174				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACAGAGAATCGAAGACTGTAC	0.408000													60	215					0	0	0.003610	0	0
COL9A2	1298	broad.mit.edu	37	1	40773873	40773873	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:40773873T>A	ENST00000372748.3	-	17	987	c.891A>T	c.(889-891)aaA>aaT	p.K297N		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	297	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGTTGCTCCTTTCGGGCCTG	0.627000													12	15					0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152283876	152283876	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152283876C>T	ENST00000368799.1	-	3	3521	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1162	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGGTGTCCTGACCCTCTT	0.607000									Ichthyosis				111	201					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179585326	179585326	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179585326G>A	ENST00000589042.1	-	80	23387	c.23163C>T	c.(23161-23163)ctC>ctT	p.L7721L	TTN_ENST00000591111.1_Silent_p.L7404L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.L6477L|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7404	Ig-like 59.						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)			TTTCACATTGGAGAATCACAT	0.388000													12	21					0	0	0.001855	0	0
RFX4	5992	broad.mit.edu	37	12	107114653	107114653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:107114653C>T	ENST00000392842.1	+	13	1764	c.1351_splice	c.e13+1	p.F450_splice	RFX4_ENST00000357881.4_Splice_Site_p.F459_splice|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Splice_Site_p.F356_splice	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	450	Necessary for dimerization.				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						CCCCCAGCTTCGGTAAGGCCA	0.567000													29	51					0	0	0.002445	0	0
OR11H1	81061	broad.mit.edu	37	22	16449062	16449062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:16449062C>T	ENST00000252835.4	-	1	743	c.743G>A	c.(742-744)gGg>gAg	p.G248E		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CTTATGTCTCCCAGTGCTTGA	0.433000													63	139					0	0	0.003610	0	0
ATP6AP1	537	broad.mit.edu	37	X	153664093	153664093	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:153664093C>T	ENST00000369762.2	+	10	1330	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	423					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCTTCTCCCCCGGCATCT	0.567000													83	36					0	0	0.003610	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307828	140307828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140307828G>A	ENST00000253807.2	+	1	1351	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E451K|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCCAGCAGGAACTTTTCGT	0.527000													19	69					0	0	0.001216	0	0
LST3	0	broad.mit.edu	37	12	21229479	21229479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21229479G>A	ENST00000540229.1	+	15	2089	c.2024G>A	c.(2023-2025)aGg>aAg	p.R675K	RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.G68R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R614K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R675K|LST3_ENST00000381541.3_Missense_Mutation_p.R614K|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.R567K																							GGGGCTTGTAGGATATATAAT	0.353000													68	131					0	0	0.003610	0	0
GRIK3	2899	broad.mit.edu	37	1	37267628	37267628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267628C>T	ENST00000373091.3	-	16	2600	c.2584G>A	c.(2584-2586)Gtg>Atg	p.V862M		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	862					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCATCGGCCACGGTGCTGCAG	0.592000													8	15					0	0	0.004482	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559501	44559501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44559501G>A	ENST00000332567.4	-	1	2487	c.2135C>T	c.(2134-2136)cCc>cTc	p.P712L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	712					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.P712L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTCAGGCAGGGGTTGGCCCG	0.662000													15	33					0	0	0.003163	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543276	182543276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:182543276C>T	ENST00000295108.3	-	2	769	c.312G>A	c.(310-312)atG>atA	p.M104I	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	104					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTTAGCCTTCATGCGTCTCA	0.547000													103	271					0	0	0.003610	0	0
ASIC3	9311	broad.mit.edu	37	7	150749751	150749751	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150749751G>C	ENST00000357922.4	+	10	2143	c.1549G>C	c.(1549-1551)Gtg>Ctg	p.V517L	ASIC3_ENST00000297512.8_Missense_Mutation_p.C543S|ASIC3_ENST00000349064.5_3'UTR	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	289					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTGCTGTCTGTGTCCTCGGA	0.587000													26	95					0	0	0.004656	0	0
RBM45	129831	broad.mit.edu	37	2	178988285	178988285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178988285C>T	ENST00000286070.5	+	6	982	c.890C>T	c.(889-891)gCt>gTt	p.A297V		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	299					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GTAGCATCAGCTATTTATGCA	0.373000													27	61					0	0	0.006320	0	0
BCAT1	586	broad.mit.edu	37	12	25031472	25031472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:25031472C>T	ENST00000261192.7	-	5	1028	c.502G>A	c.(502-504)Gga>Aga	p.G168R	BCAT1_ENST00000539780.1_Missense_Mutation_p.G131R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G167R|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.G107R|BCAT1_ENST00000539282.1_Missense_Mutation_p.G180R	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	168					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)	ACCTCAGTTCCAATGAATGTA	0.373000													12	33					0	0	0.001855	0	0
STK31	56164	broad.mit.edu	37	7	23810624	23810624	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:23810624G>A	ENST00000354639.3	+	14	2109	c.1644_splice	c.e14-1	p.D549_splice	STK31_ENST00000433467.2_Splice_Site_p.D572_splice|STK31_ENST00000428484.1_Splice_Site_p.D549_splice|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Splice_Site_p.D572_splice	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	572							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTCATTTAGGATCAAGGTGA	0.338000													51	53					0	0	0.003610	0	0
ZNF600	162966	broad.mit.edu	37	19	53269181	53269181	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53269181A>T	ENST00000338230.3	-	3	2095	c.1828T>A	c.(1828-1830)Tac>Aac	p.Y610N		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTACACTTGTAAGGTTTCTCT	0.383000													34	86					0	0	0.002836	0	0
CACNA1S	779	broad.mit.edu	37	1	201061174	201061174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201061174C>T	ENST00000362061.3	-	4	693	c.467G>A	c.(466-468)gGa>gAa	p.G156E	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G156E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	156					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)	CAAGCCGGCTCCTTTGCTGCT	0.602000													16	39					0	0	0.006122	0	0
KCNH7	90134	broad.mit.edu	37	2	163250982	163250982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163250982C>T	ENST00000332142.5	-	12	2726	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	876					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGATTGTGATCGTAGGAGATC	0.323000													15	48					0	0	0.004007	0	0
MAPK11	5600	broad.mit.edu	37	22	50706341	50706341	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50706341C>T	ENST00000449719.2	-	0	225				MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000330651.6_Missense_Mutation_p.V52M			Q15759	MK11_HUMAN	mitogen-activated protein kinase 11						activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTTCTTCACCGCCACCTTC	0.711000													3	9					0	0	0.000602	0	0
IL36B	27177	broad.mit.edu	37	2	113785692	113785692	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	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													9	32					0	0	0.000978	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324538	52324538	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52324538C>T	ENST00000354773.4	+	2	276	c.180C>T	c.(178-180)tcC>tcT	p.S60S	GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000305690.8_Silent_p.S60S|GLYCTK_ENST00000477382.1_Silent_p.S60S|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Silent_p.S60S|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000436784.2_Silent_p.S60S	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	60					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGGCACTATCCTTGGACCCTG	0.622000													17	19					0	0	0.006122	0	0
TENM3	55714	broad.mit.edu	37	4	183600819	183600819	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183600819T>A	ENST00000511685.1	+	8	1450	c.1326_splice	c.e8-1	p.Y443_splice	TENM3_ENST00000406950.2_Splice_Site_p.Y443_splice					teneurin transmembrane protein 3																		CTCCCCCCAGTATGACTTCGT	0.517000													19	47					0	0	0.001523	0	0
BAI3	577	broad.mit.edu	37	6	70070979	70070979	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70070979A>C	ENST00000370598.1	+	29	4635	c.3814A>C	c.(3814-3816)Aaa>Caa	p.K1272Q	BAI3_ENST00000546190.1_Missense_Mutation_p.K236Q|BAI3_ENST00000238918.8_Missense_Mutation_p.K478Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1272					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATGTTTGAAAAAAGAAAATAG	0.408000													15	38					0	0	0.004007	0	0
FBLN1	2192	broad.mit.edu	37	22	45958920	45958920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45958920C>T	ENST00000402984.3	+	16	2043	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.S609F|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	622					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATGGGCCCCTCCAGTGCTGTC	0.622000													32	57					0	0	0.001512	0	0
CYP19A1	1588	broad.mit.edu	37	15	51504559	51504559	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51504559G>A	ENST00000396402.1	-	9	1374	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	CYP19A1_ENST00000559878.1_Silent_p.F407F|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.F407F|CYP19A1_ENST00000396404.4_Silent_p.F407F	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	407					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TGGGTTTGGGGAAAAACTCGA	0.393000													21	71					0	0	0.001216	0	0
MEPCE	56257	broad.mit.edu	37	7	100029239	100029239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100029239C>T	ENST00000310512.2	+	1	1986	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	MEPCE_ENST00000414441.1_Missense_Mutation_p.P64L	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	533	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCGGGGTCCCATCGCTGCC	0.612000													8	18					0	0	0.003080	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35640208G>A	ENST00000353139.5	-	5	1051	c.570C>T	c.(568-570)ttC>ttT	p.F190F	ACACA_ENST00000335166.5_Silent_p.F75F|ACACA_ENST00000394406.2_Silent_p.F153F|ACACA_ENST00000360679.3_Silent_p.F95F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000													14	37					0	0	0.004007	0	0
COL14A1	7373	broad.mit.edu	37	8	121357669	121357669	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:121357669C>T	ENST00000297848.3	+	45	5214	c.4944C>T	c.(4942-4944)tcC>tcT	p.S1648S	COL14A1_ENST00000309791.4_Silent_p.S1648S|COL14A1_ENST00000247781.3_Silent_p.S1553S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1648					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACTCCTCATCCATCCGGACTG	0.592000													12	54					0	0	0.001855	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586624	1586624	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:1586624C>T	ENST00000297477.5	-	9	1522	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	402						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCCGCTTCTCCAGGCTCCGGC	0.716000													14	18					0	0	0.003163	0	0
TSIX	9383	broad.mit.edu	37	X	73042686	73042686	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:73042686C>T	ENST00000604411.1	+	0	30647				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTTAGTTTTTCCTTAGTATCG	0.348000													39	13					0	0	0.006999	0	0
IGF1	3479	broad.mit.edu	37	12	102813396	102813396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102813396C>T	ENST00000456098.1	-	3	511	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	IGF1_ENST00000307046.8_Missense_Mutation_p.R98Q|IGF1_ENST00000392904.1_Missense_Mutation_p.R98Q|IGF1_ENST00000424202.2_Missense_Mutation_p.R82Q|IGF1_ENST00000337514.6_Missense_Mutation_p.R98Q	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	98	A.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.R98Q(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ATCACAGCTCCGGAAGCAGCA	0.597000													14	32					0	0	0.004007	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880941	70880941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:70880941G>A	ENST00000333538.5	+	4	1290	c.656G>A	c.(655-657)aGa>aAa	p.R219K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	219	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTGGTAAGAAATCAGAAG	0.537000													17	16					0	0	0.004007	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774462	101774462	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:101774462G>A	ENST00000506729.1	-	7	1306	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	SLCO6A1_ENST00000379807.3_Silent_p.L379L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Silent_p.L317L|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	379						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTTCATCAGAATCTGaaat	0.274000													19	39					0	0	0.006122	0	0
NLRP2	55655	broad.mit.edu	37	19	55493645	55493645	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55493645C>T	ENST00000543010.1	+	6	722	c.579C>T	c.(577-579)atC>atT	p.I193I	NLRP2_ENST00000538819.1_Silent_p.I169I|NLRP2_ENST00000537859.1_Silent_p.I171I|NLRP2_ENST00000339757.7_Silent_p.I171I|NLRP2_ENST00000448584.2_Silent_p.I193I|NLRP2_ENST00000427260.2_Silent_p.I170I|NLRP2_ENST00000391721.4_Silent_p.I169I|NLRP2_ENST00000263437.6_Silent_p.I190I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	193					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGATGCTGATCCCATTCAGCA	0.537000													37	113					0	0	0.006999	0	0
PCLO	27445	broad.mit.edu	37	7	82579670	82579670	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82579670T>C	ENST00000423517.2	-	6	10571	c.10234A>G	c.(10234-10236)Aag>Gag	p.K3412E	PCLO_ENST00000437081.1_Missense_Mutation_p.K132E|PCLO_ENST00000333891.8_Missense_Mutation_p.K3412E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3343					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						GAACTTCTCTTTTTGGGTTGT	0.418000													28	80					0	0	0.007291	0	0
SARNP	84324	broad.mit.edu	37	12	56182877	56182877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56182877G>A	ENST00000546837.1	-	14	1419	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	SARNP_ENST00000444631.2_Silent_p.V101V|SARNP_ENST00000552080.1_Silent_p.V161V|SARNP_ENST00000336133.3_Silent_p.V161V																							AGATTGAAGAGACATTCAAAC	0.368000													33	95					0	0	0.006999	0	0
C20orf194	25943	broad.mit.edu	37	20	3251088	3251088	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3251088T>A	ENST00000252032.9	-	30	2838	c.2771A>T	c.(2770-2772)aAt>aTt	p.N924I	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	924										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GACAATCCCATTTTCTGCAAG	0.507000													60	69					0	0	0.003610	0	0
COL16A1	1307	broad.mit.edu	37	1	32134409	32134409	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32134409C>T	ENST00000373672.3	-	50	3759	c.3243G>A	c.(3241-3243)ggG>ggA	p.G1081G	COL16A1_ENST00000271069.6_Silent_p.G1081G	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1081	Triple-helical region 2 (COL2) with 2 imperfections.				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)		TTACCGGCTCCCCCTTGTCTC	0.612000													17	33					0	0	0.006122	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428803	4428803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4428803C>T	ENST00000301280.5	+	8	1621	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	507					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)		GGCGAGTTCTCCTTCTTGAAA	0.597000								Chromatin Structure					21	45					0	0	0.001523	0	0
ZPBP	11055	broad.mit.edu	37	7	50121403	50121403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:50121403G>A	ENST00000046087.2	-	3	370	c.301C>T	c.(301-303)Caa>Taa	p.Q101*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.Q101*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	101					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CCATACCATTGGAATGATGGG	0.358000													16	43					0	0	0.003163	0	0
FCGBP	8857	broad.mit.edu	37	19	40408010	40408010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:40408010C>T	ENST00000221347.6	-	9	4718	c.4711G>A	c.(4711-4713)Ggc>Agc	p.G1571S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1571	Cys-rich.|TIL 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)			TAGAGGAAGCCGGAGTCACAC	0.602000													7	35					0	0	0.001984	0	0
ZNF721	170960	broad.mit.edu	37	4	435916	435916	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:435916G>A	ENST00000338977.5	-	2	2352	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P	ZNF721_ENST00000511833.2_Silent_p.P780P|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATTTGTAGGGTTTCTTTC	0.353000													6	21					0	0	0.001168	0	0
OR2B6	26212	broad.mit.edu	37	6	27925786	27925786	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27925786C>T	ENST00000244623.1	+	1	768	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTACAGCCGTCTCTGTGTACC	0.458000													34	75					0	0	0.003755	0	0
CFAP221	200373	broad.mit.edu	37	2	120404598	120404598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:120404598G>A	ENST00000602047.1	+	23	2544	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E764K			Q4G0U5	PCDP1_HUMAN		764						cilium	calmodulin binding					Colorectal(110;0.196)					TGCCTTACCAGAAGAGGACAG	0.408000													34	78					0	0	0.004289	0	0
UROC1	131669	broad.mit.edu	37	3	126218907	126218907	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:126218907C>T	ENST00000290868.2	-	12	1289	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	UROC1_ENST00000383579.3_Silent_p.Q472Q	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	412					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		tACCTGCTCTCTGGGCCTCCA	0.627000													17	33					0	0	0.007413	0	0
SSPO	23145	broad.mit.edu	37	7	149480748	149480748	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149480748G>A	ENST00000378016.2	+	0	2454							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCCCTGGAGGAACCAGACCC	0.662000													23	68					0	0	0.003330	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:77401601C>T	ENST00000282849.5	-	4	933	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000													12	39					0	0	0.001368	0	0
NT5DC3	51559	broad.mit.edu	37	12	104187199	104187199	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:104187199G>A	ENST00000392876.3	-	8	946	c.906C>T	c.(904-906)ccC>ccT	p.P302P		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	302							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAAAGCTACTGGGGCTATTGG	0.443000													23	50					0	0	0.003330	0	0
TRPV3	162514	broad.mit.edu	37	17	3458031	3458031	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3458031C>T	ENST00000301365.4	-	2	245	c.114G>A	c.(112-114)aaG>aaA	p.K38K	TRPV3_ENST00000572519.1_Silent_p.K38K|TRPV3_ENST00000576742.1_Silent_p.K38K			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	38						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCCACCTCTTCTTTGTGGGGG	0.657000													17	30					0	0	0.001216	0	0
BAGE2	85319	broad.mit.edu	37	21	11038962	11038962	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:11038962C>T	ENST00000470054.1	-	0	1241									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)		AATGATGACTCTGTCTCAGAT	0.413000													16	363					0	0	0.003163	0	0
SALL3	27164	broad.mit.edu	37	18	76754462	76754462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76754462C>T	ENST00000536229.3	+	1	2781	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	SALL3_ENST00000575389.2_Missense_Mutation_p.S824F|SALL3_ENST00000537592.2_Missense_Mutation_p.S824F			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCACTCCTGTCCTACGCGGGG	0.642000													7	18					0	0	0.003080	0	0
GRIK3	2899	broad.mit.edu	37	1	37267627	37267627	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267627A>G	ENST00000373091.3	-	16	2601	c.2585T>C	c.(2584-2586)gTg>gCg	p.V862A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	862					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCATCGGCCACGGTGCTGCA	0.597000													7	18					0	0	0.003080	0	0
NLRP14	338323	broad.mit.edu	37	11	7063775	7063775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7063775G>A	ENST00000299481.4	+	4	864	c.518G>A	c.(517-519)gGt>gAt	p.G173D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	173					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCAAAACCGGTGCACAGCCA	0.473000													27	57					0	0	0.007291	0	0
SCG3	29106	broad.mit.edu	37	15	51984448	51984448	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:51984448G>A	ENST00000220478.3	+	7	1186	c.783G>A	c.(781-783)agG>agA	p.R261R	SCG3_ENST00000542355.2_Silent_p.R29R	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	261					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GCTTGGAAAGGAGAACTAAAA	0.403000													29	59					0	0	0.005443	0	0
OR1F1	4992	broad.mit.edu	37	16	3254528	3254528	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3254528C>T	ENST00000304646.2	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F94F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCATCTCCTTCTGTGGCTGTC	0.502000													52	109					0	0	0.003610	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626153	44626153	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:44626153G>A	ENST00000576629.1	+	10	4143	c.3648G>A	c.(3646-3648)caG>caA	p.Q1216Q	ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|LRRC37A2_ENST00000333412.3_Silent_p.Q1216Q			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1216						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTGGAACAGCCCCACACAC	0.587000													31	173					0	0	0.004289	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799745	133799745	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133799745C>T	ENST00000372338.4	-	3	833	c.591G>A	c.(589-591)gtG>gtA	p.V197V	FIBCD1_ENST00000448616.1_Silent_p.V197V|FIBCD1_ENST00000372337.2_Silent_p.V39V|FIBCD1_ENST00000253018.4_Silent_p.V39V	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	197					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGACGGAGTTCACCAGGTGAG	0.701000													12	20					0	0	0.001368	0	0
SLC47A1	55244	broad.mit.edu	37	17	19451383	19451383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19451383G>A	ENST00000270570.4	+	4	478	c.392G>A	c.(391-393)tGg>tAg	p.W131*	SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000457293.1_Nonsense_Mutation_p.W131*|SLC47A1_ENST00000395585.1_Nonsense_Mutation_p.W131*|SLC47A1_ENST00000542886.1_Nonsense_Mutation_p.W131*|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Nonsense_Mutation_p.W131*|SLC47A1_ENST00000436810.2_Nonsense_Mutation_p.W108*	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	131						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TTCCCCTGCTGGGCGCTCTTT	0.622000													10	24					0	0	0.006214	0	0
FAM179A	165186	broad.mit.edu	37	2	29259574	29259574	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29259574G>A	ENST00000379558.4	+	18	2937	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G	FAM179A_ENST00000403861.2_Silent_p.G807G|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	862							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAACTCAGGGATTTACGCTG	0.577000													6	21					0	0	0.001168	0	0
TMEM108	66000	broad.mit.edu	37	3	133099807	133099807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:133099807C>T	ENST00000515826.1	+	3	1375	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	TMEM108_ENST00000321871.6_Missense_Mutation_p.L418F|TMEM108_ENST00000393130.3_Missense_Mutation_p.L418F|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	418						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCCAGTCCTCTCTCCACAGT	0.612000													10	29					0	0	0.000673	0	0
TECPR2	9895	broad.mit.edu	37	14	102901338	102901338	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102901338C>T	ENST00000359520.7	+	9	2410	c.2184C>T	c.(2182-2184)gtC>gtT	p.V728V	TECPR2_ENST00000558678.1_Silent_p.V728V	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	728							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						TGACTCCGGTCTCTGCCTTGG	0.557000													21	42					0	0	0.001882	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26228958C>T	ENST00000335473.7	+	16	3304	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	MYO18B_ENST00000407587.2_Silent_p.P1018P|MYO18B_ENST00000536101.1_Silent_p.P1018P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCAAAATCCCTCTCAGGTAA	0.498000													26	42					0	0	0.005443	0	0
ADARB2	105	broad.mit.edu	37	10	1405874	1405874	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:1405874G>A	ENST00000381312.1	-	3	751	c.426C>T	c.(424-426)taC>taT	p.Y142Y		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	142	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ACACTGTCCGGTACTGCAGGC	0.657000													17	19					0	0	0.006122	0	0
FANCM	57697	broad.mit.edu	37	14	45618195	45618195	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:45618195C>T	ENST00000267430.5	+	4	1000	c.915C>T	c.(913-915)atC>atT	p.I305I	FANCM_ENST00000542564.2_Silent_p.I279I|FANCM_ENST00000556036.1_Silent_p.I305I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	305					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGACCTATATCCAGGTAAACC	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	30					0	0	0.001855	0	0
PDLIM5	10611	broad.mit.edu	37	4	95585166	95585166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:95585166C>T	ENST00000317968.4	+	13	1875	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000514743.1_Missense_Mutation_p.S609F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.S471F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S458F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	580	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ACCTTTTTCTCCAAGAAGGAC	0.363000													8	65					0	0	0.006214	0	0
LOC647264	647264	broad.mit.edu	37	13	64321127	64321127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:64321127G>A	ENST00000453638.2	+	1	194	c.194G>A	c.(193-195)gGa>gAa	p.G65E																	endometrium(2)|lung(1)|urinary_tract(1)	4						tgtggctatggaactggctac	0.567000													6	6					0	0	0.001168	0	0
AP3B2	8120	broad.mit.edu	37	15	83334278	83334278	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:83334278C>T	ENST00000261722.3	-	16	2109	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	AP3B2_ENST00000535348.1_Silent_p.K602K|AP3B2_ENST00000535359.1_Silent_p.K634K|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	634					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCCTGTGGCCTTGGCATTAA	0.607000													19	81					0	0	0.002299	0	0
TRAV18	28665	broad.mit.edu	37	14	22471471	22471471	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22471471G>A	ENST00000390446.3	+	0	127																											TTCCTGCTCAGGACTTGTGAT	0.388000													26	48					0	0	0.007291	0	0
THSD7B	80731	broad.mit.edu	37	2	137990490	137990490	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137990490G>T	ENST00000409968.1	+	9	2115	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	THSD7B_ENST00000413152.2_Missense_Mutation_p.S615I|THSD7B_ENST00000272643.3_Missense_Mutation_p.S646I|THSD7B_ENST00000543459.1_Intron					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)		TGTCCCCCTAGTCAGGCTCTC	0.453000													14	24					1.5739e-10	2.46713e-10	0.004007	1	0
APOB	338	broad.mit.edu	37	2	21239410	21239410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:21239410C>T	ENST00000233242.1	-	21	3360	c.3233G>A	c.(3232-3234)aGa>aAa	p.R1078K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1078					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCATTAACTCTGAGGATTGT	0.448000													143	320					0	0	0.003610	0	0
DHX8	1659	broad.mit.edu	37	17	41584372	41584372	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41584372C>T	ENST00000262415.3	+	13	1802	c.1728_splice	c.e13-1	p.A577_splice	DHX8_ENST00000540306.1_Splice_Site_p.A577_splice	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	577	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGCTTTCAGGCCGTCCATGAC	0.393000													12	27					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9077502	9077502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9077502G>A	ENST00000397910.4	-	3	10147	c.9944C>T	c.(9943-9945)tCc>tTc	p.S3315F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3316	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						TGACTCTAGGGAGACAGAGGA	0.527000													25	47					0	0	0.003954	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535171	96535171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96535171G>A	ENST00000371321.3	+	3	438	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	119					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AATGGAAAGAGATGGAAGGAG	0.527000													13	46					0	0	0.002450	0	0
TMEM127	55654	broad.mit.edu	37	2	96919742	96919742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:96919742G>A	ENST00000258439.2	-	4	777	c.521C>T	c.(520-522)gCc>gTc	p.A174V	TMEM127_ENST00000435268.1_Missense_Mutation_p.A90V|TMEM127_ENST00000432959.1_Missense_Mutation_p.A174V	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	174					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GAAGCTAACGGCGAAGGTGAC	0.577000													16	34					0	0	0.006122	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808266	18808266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:18808266C>T	ENST00000400664.1	+	1	843	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	264						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCTCATCCATAGCCCGC	0.592000													23	22					0	0	0.003330	0	0
RAD21	5885	broad.mit.edu	37	8	117861238	117861238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:117861238G>A	ENST00000297338.2	-	13	1938	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*	RAD21_ENST00000518055.1_Nonsense_Mutation_p.Q96*|UTP23_ENST00000517820.1_Silent_p.L100L|RAD21_ENST00000523986.1_Nonsense_Mutation_p.Q55*|UTP23_ENST00000520733.1_Missense_Mutation_p.D53N|RAD21_ENST00000517749.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	551					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTTCTTCCTGATCTTGATCG	0.413000													51	113					0	0	0.003610	0	0
FSTL5	56884	broad.mit.edu	37	4	162402309	162402309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:162402309G>A	ENST00000306100.5	-	13	1907	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	FSTL5_ENST00000427802.2_Missense_Mutation_p.P481S|FSTL5_ENST00000536695.1_Missense_Mutation_p.P490S|FSTL5_ENST00000379164.4_Missense_Mutation_p.P490S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	491						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCTTTGGGACAGACTTCA	0.368000													23	139					0	0	0.006320	0	0
DSG3	1830	broad.mit.edu	37	18	29052254	29052254	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29052254C>T	ENST00000257189.4	+	13	1988	c.1905C>T	c.(1903-1905)ccC>ccT	p.P635P		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	635					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTGGCCCCCCTTCTGCTGT	0.403000													27	80					0	0	0.002836	0	0
TIGD5	84948	broad.mit.edu	37	8	144680968	144680968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:144680968G>A	ENST00000321385.3	+	1	895	c.748G>A	c.(748-750)Gac>Aac	p.D250N	TIGD5_ENST00000504548.2_Missense_Mutation_p.D299N			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	299					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			GCGGCTGCCGGACCCGCCCAG	0.726000													7	17					0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10304075	10304075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10304075C>T	ENST00000403437.2	-	27	3461	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1123					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						TCGATTTCTTCCCCCAGCTCC	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	48					0	0	0.000673	0	0
FGF6	2251	broad.mit.edu	37	12	4553335	4553335	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4553335G>A	ENST00000228837.2	-	2	457	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	138					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	p.F138F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCATGGCAACGAAGAGGGCAC	0.517000													15	44					0	0	0.004990	0	0
GFPT2	9945	broad.mit.edu	37	5	179743856	179743856	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179743856G>A	ENST00000253778.8	-	12	1229	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	354					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AAGCCACCCAGGAGCACTGCA	0.592000													10	16					0	0	0.000673	0	0
NDRG4	65009	broad.mit.edu	37	16	58545466	58545466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58545466G>A	ENST00000394282.4	+	16	1569	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	NDRG4_ENST00000563799.1_Missense_Mutation_p.E354K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E366K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E354K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E324K|NDRG4_ENST00000569923.1_Missense_Mutation_p.E281K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E368K|NDRG4_ENST00000258187.5_Missense_Mutation_p.E368K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E349K	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	349					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCACACCATGGAGGTGTCCTG	0.627000													13	41					0	0	0.002450	0	0
FUT9	10690	broad.mit.edu	37	6	96651531	96651531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:96651531C>T	ENST00000302103.5	+	3	826	c.500C>T	c.(499-501)cCt>cTt	p.P167L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	167					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCCAAGTGCCTTATGGCTTC	0.458000													11	31					0	0	0.000978	0	0
AGAP7	653268	broad.mit.edu	37	10	51465504	51465504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:51465504G>A	ENST00000374095.5	-	7	1077	c.952C>T	c.(952-954)Cca>Tca	p.P318S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	318	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CACTTTCCTGGGACTTTGATG	0.468000													40	110					0	0	0.003610	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461004	160461004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160461004C>T	ENST00000368059.3	-	3	626	c.557G>A	c.(556-558)aGg>aAg	p.R186K	SLAMF6_ENST00000368057.3_Missense_Mutation_p.R186K|SLAMF6_ENST00000368055.1_Missense_Mutation_p.R75K	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	186	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			ACTGGAAATCCTGGGGTCCCA	0.498000													35	55					0	0	0.004878	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579357	44579357	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:44579357C>T	ENST00000289547.4	-	2	694	c.639G>A	c.(637-639)ctG>ctA	p.L213L	NPC1L1_ENST00000381160.3_Silent_p.L213L|NPC1L1_ENST00000423141.1_Silent_p.L213L|NPC1L1_ENST00000546276.1_Silent_p.L213L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	213					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCAGTGGGGCCAGACCATTGC	0.617000													17	44					0	0	0.006122	0	0
MIA3	375056	broad.mit.edu	37	1	222802465	222802465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:222802465C>T	ENST00000344922.5	+	4	1928	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P635S|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	635					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTCTCCTCTCCAGATGAGAT	0.463000													115	280					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21892109	21892109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21892109G>A	ENST00000328843.6	+	68	10973	c.10942G>A	c.(10942-10944)Gat>Aat	p.D3648N	DNAH11_ENST00000409508.3_Missense_Mutation_p.D3641N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3648	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCACCAAAATGATTTTAAAAT	0.373000									Kartagener syndrome				13	60					0	0	0.003163	0	0
FBF1	85302	broad.mit.edu	37	17	73908303	73908303	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73908303C>T	ENST00000586717.1	-	28	3561	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	FBF1_ENST00000319129.5_Silent_p.R1096R|FBF1_ENST00000389570.4_Silent_p.R1097R|RP11-552F3.12_ENST00000587556.1_Silent_p.R38R			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1096										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCAGTGCCAGCCTGGCATGGA	0.647000													9	18					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179430748	179430748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179430748C>T	ENST00000589042.1	-	326	80335	c.80111G>A	c.(80110-80112)tGg>tAg	p.W26704*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W25063*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W17639*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W17831*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W24136*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W17764*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25063	Fibronectin type-III 94.						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)			GGGTGGCTCCCATACCAGGAA	0.438000													57	95					0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106139928	106139928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:106139928G>A	ENST00000369704.3	+	9	1449	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CCDC147_ENST00000369703.1_Missense_Mutation_p.E61K|CCDC147_ENST00000312902.5_Missense_Mutation_p.E61K	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	439										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CTTTCATCTGGAAAAGGAGCG	0.493000													25	67					0	0	0.001512	0	0
PRDM1	639	broad.mit.edu	37	6	106547183	106547183	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:106547183C>T	ENST00000369096.4	+	4	654	c.420C>T	c.(418-420)tcC>tcT	p.S140S	PRDM1_ENST00000369089.3_Silent_p.S6S|PRDM1_ENST00000369091.2_Silent_p.S104S	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	140	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGATCTATTCCAGAGGGGAGC	0.498000			"""D, N, Mis, F, S"""		DLBCL								24	56					0	0	0.005443	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381050	19381050	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19381050G>A	ENST00000389363.4	-	4	405	c.333C>T	c.(331-333)ttC>ttT	p.F111F	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	111						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGTAGCAGATGAAGACTCCGT	0.657000													16	41					0	0	0.001523	0	0
ATP2A3	489	broad.mit.edu	37	17	3851090	3851090	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3851090C>T	ENST00000309890.7	-	8	840	c.690G>A	c.(688-690)acG>acA	p.T230T	ATP2A3_ENST00000397041.3_Silent_p.T230T|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.T230T|ATP2A3_ENST00000359983.3_Silent_p.T230T|ATP2A3_ENST00000397043.3_Silent_p.T230T|ATP2A3_ENST00000352011.3_Silent_p.T230T	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	230					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCCCAGCTCCGTGTGCAGGC	0.667000													11	37					0	0	0.001368	0	0
FUT1	2523	broad.mit.edu	37	19	49254217	49254217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49254217G>A	ENST00000310160.3	-	4	1296	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	108					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AAGGCCCGGCGGCCGTTGAGC	0.657000													14	31					0	0	0.002450	0	0
SCN2A	6326	broad.mit.edu	37	2	166229798	166229798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166229798C>T	ENST00000375437.2	+	21	4203	c.3913C>T	c.(3913-3915)Ctc>Ttc	p.L1305F	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1305F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1305F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1305F	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1305					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATCAAATCCCTCAGAACACT	0.408000													26	72					0	0	0.006320	0	0
ADAM7	8756	broad.mit.edu	37	8	24324313	24324313	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24324313G>A	ENST00000175238.6	+	6	474	c.389_splice	c.e6-1	p.G131_splice	ADAM7_ENST00000380789.1_Splice_Site_p.G131_splice|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Splice_Site_p.G131_splice|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	131					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			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)		TTTCTACAGGGGATTCTTCAG	0.378000													16	43					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179458929C>T	ENST00000589042.1	-	297	58415	c.58191G>A	c.(58189-58191)acG>acA	p.T19397T	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T17756T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T10332T|TTN_ENST00000342175.6_Silent_p.T10524T|TTN_ENST00000342992.6_Silent_p.T16829T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.T10457T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17756	Fibronectin type-III 40.						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)			CAACTCGAATCGTGAGCTTAT	0.418000													26	51					0	0	0.003954	0	0
ARMC6	93436	broad.mit.edu	37	19	19166145	19166145	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19166145C>T	ENST00000535612.1	+	7	1527	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ARMC6_ENST00000392336.3_Silent_p.V365V|ARMC6_ENST00000546344.1_Silent_p.V272V|ARMC6_ENST00000269932.6_Silent_p.V340V|ARMC6_ENST00000392335.2_Silent_p.V340V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	365							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			ATGCTATTGTCCGTGCTGGTG	0.627000													16	26					0	0	0.004990	0	0
ADCY4	196883	broad.mit.edu	37	14	24791887	24791887	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24791887C>T	ENST00000310677.4	-	20	2483	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	ADCY4_ENST00000418030.2_Silent_p.L790L|ADCY4_ENST00000554068.2_Silent_p.L790L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	790					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TAGCACCCATCAGTTTGGGCT	0.607000													11	23					0	0	0.002450	0	0
FAM47C	442444	broad.mit.edu	37	X	37026888	37026888	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026888C>T	ENST00000358047.3	+	1	457	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	135										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						CCATGTACCCCAATCTGGGAG	0.577000													24	11					0	0	0.005443	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313408	57313408	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57313408G>A	ENST00000457912.1	+	5	1026	c.1026G>A	c.(1024-1026)ggG>ggA	p.G342G	SMTNL1_ENST00000527972.1_Silent_p.G324G|SMTNL1_ENST00000399154.2_Silent_p.G287G			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	324										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CTTCCTCAGGGGAGAAGAAGG	0.627000													5	13					0	0	0.001168	0	0
DSC1	1823	broad.mit.edu	37	18	28714589	28714589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28714589G>A	ENST00000257197.3	-	12	2083	c.1822C>T	c.(1822-1824)Caa>Taa	p.Q608*	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Nonsense_Mutation_p.Q608*	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	608	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAAGAATTGAAAAGGTGGT	0.358000													11	29					0	0	0.001855	0	0
PITPNM2	57605	broad.mit.edu	37	12	123497270	123497270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123497270G>A	ENST00000280562.5	-	4	510	c.305C>T	c.(304-306)cCt>cTt	p.P102L	PITPNM2_ENST00000320201.4_Missense_Mutation_p.P102L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P102L|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P102L|PITPNM2_ENST00000392428.1_Intron			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	102					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)		CTCCACGAAAGGACAGGTGAA	0.517000													51	99					0	0	0.003610	0	0
TULP4	56995	broad.mit.edu	37	6	158910722	158910722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:158910722C>T	ENST00000367097.3	+	9	2946	c.1589C>T	c.(1588-1590)tCt>tTt	p.S530F	TULP4_ENST00000367094.2_Missense_Mutation_p.S530F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	530					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCCAAGAAATCTCCCAAAATC	0.463000													21	28					0	0	0.002780	0	0
GSK3B	2932	broad.mit.edu	37	3	119666176	119666176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:119666176C>T	ENST00000264235.8	-	3	1287	c.305G>A	c.(304-306)aGa>aAa	p.R102K	GSK3B_ENST00000316626.5_Missense_Mutation_p.R102K	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	102	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ATCTAGCTTTCTCATGATCTG	0.343000													38	81					0	0	0.006999	0	0
C16orf58	64755	broad.mit.edu	37	16	31503562	31503562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31503562G>A	ENST00000327237.2	-	11	1226	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	C16orf58_ENST00000567994.1_Missense_Mutation_p.P351L|C16orf58_ENST00000570164.1_Missense_Mutation_p.P394L			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	396						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGCTGGAAGGGGTCCATCTCC	0.607000													9	25					0	0	0.006214	0	0
IVL	3713	broad.mit.edu	37	1	152882375	152882375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152882375G>A	ENST00000368764.3	+	2	166	c.102G>A	c.(100-102)atG>atA	p.M34I	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	34					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGCAAATGAAACAGCCAA	0.557000													15	43					0	0	0.003163	0	0
ADAM32	203102	broad.mit.edu	37	8	39068812	39068812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:39068812G>A	ENST00000379907.4	+	12	1329	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	401	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATTGGAGGGAAATGAAATC	0.318000													7	9					0	0	0.001984	0	0
AKAP13	11214	broad.mit.edu	37	15	86278327	86278327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:86278327C>T	ENST00000394518.2	+	31	7482	c.7387C>T	c.(7387-7389)Cgg>Tgg	p.R2463W	AKAP13_ENST00000361243.2_Missense_Mutation_p.R2467W|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.R708W	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2463	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCCCTGCCCCGGAGAGCAGA	0.502000													48	103					0	0	0.003610	0	0
TCTE1	202500	broad.mit.edu	37	6	44253974	44253974	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:44253974G>A	ENST00000371505.4	-	3	695	c.573C>T	c.(571-573)gtC>gtT	p.V191V	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.V38V|TCTE1_ENST00000371503.3_Silent_p.V38V	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	191										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATCGACGTGGACCCTGCGCA	0.662000													11	35					0	0	0.001855	0	0
SALL1	6299	broad.mit.edu	37	16	51174599	51174599	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:51174599G>T	ENST00000440970.1	-	2	1674	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	SALL1_ENST00000251020.4_Missense_Mutation_p.P512T|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	512					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGCACAGGATAGGGGTTC	0.517000													26	54					8.24728e-16	1.29877e-15	0.004656	1	0
MUC5B	727897	broad.mit.edu	37	11	1258301	1258301	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1258301G>A	ENST00000447027.1	+	25	3271	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	MUC5B_ENST00000529681.1_Silent_p.K1068K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1068	VWFD 3.				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)		TGGCACCCAAGGACCCCTGCA	0.692000													9	29					0	0	0.000673	0	0
CASD1	64921	broad.mit.edu	37	7	94185045	94185045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94185045C>T	ENST00000297273.4	+	18	2656	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	790						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTTATCATCCATTCAAGAT	0.338000													14	55					0	0	0.004990	0	0
NTSR2	23620	broad.mit.edu	37	2	11802205	11802205	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:11802205G>A	ENST00000306928.5	-	2	820	c.786C>T	c.(784-786)ctC>ctT	p.L262L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	262					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGAAGCTGAGGAGACCCTCCT	0.637000													23	69					0	0	0.003330	0	0
TAF9	6880	broad.mit.edu	37	5	68661320	68661320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:68661320G>A	ENST00000328663.4	-	3	711	c.245C>T	c.(244-246)tCt>tTt	p.S82F	TAF9_ENST00000217893.5_Missense_Mutation_p.S82F|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.S82F|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AGAGGTAAAAGACTGATCAGC	0.413000													21	60					0	0	0.001882	0	0
PODXL	5420	broad.mit.edu	37	7	131189150	131189150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:131189150C>T	ENST00000541194.1	-	9	1860	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	PODXL_ENST00000378555.3_Missense_Mutation_p.E533K|PODXL_ENST00000322985.9_Missense_Mutation_p.E501K|PODXL_ENST00000537928.1_Missense_Mutation_p.E501K	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	533					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCCCCAGCTCCCCGTTGAGG	0.577000													22	67					0	0	0.002299	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838770	31838770	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31838770C>T	ENST00000544672.1	-	10	824	c.528G>A	c.(526-528)ctG>ctA	p.L176L	SLC44A4_ENST00000375562.4_Silent_p.L210L|SLC44A4_ENST00000229729.6_Silent_p.L252L	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	252						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GCCCAGCCACCAGGCGCAGAA	0.617000													34	74					0	0	0.004878	0	0
NLRP3	114548	broad.mit.edu	37	1	247586554	247586554	+	Silent	SNP	G	G	A	rs149161277		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586554G>A	ENST00000366497.2	+	3	1086	c.306G>A	c.(304-306)tcG>tcA	p.S102S	NLRP3_ENST00000391827.2_Silent_p.S102S|NLRP3_ENST00000366496.2_Silent_p.S102S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.S102S|NLRP3_ENST00000336119.3_Silent_p.S102S|NLRP3_ENST00000348069.2_Silent_p.S102S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	102					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	p.S102S(1)		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)			CACGTGTTTCGAATCCCACTG	0.398000													24	92					0	0	0.005443	0	0
MYO1G	64005	broad.mit.edu	37	7	45006321	45006321	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:45006321G>A	ENST00000258787.7	-	15	2035	c.1899C>T	c.(1897-1899)gtC>gtT	p.V633V		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	633	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCCCTGCGGACCCTCACAT	0.602000													28	52					0	0	0.005443	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88916314	88916314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:88916314G>A	ENST00000277141.6	-	27	4588	c.2164C>T	c.(2164-2166)Ctc>Ttc	p.L722F	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.L1395F|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.L1433F|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.L1197F|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.L333F			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1433					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGGCCTGAGGATCTTCTCC	0.458000													13	27					0	0	0.001855	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768307	18768307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:18768307G>A	ENST00000359846.2	-	3	330	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000600945.1_Missense_Mutation_p.H85Y|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.H85Y|NT5C1B_ENST00000304081.4_Intron	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGGCACATGTGAATATAAATA	0.552000													9	24					0	0	0.006214	0	0
BRINP2	57795	broad.mit.edu	37	1	177199095	177199095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177199095C>T	ENST00000361539.4	+	2	395	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		28						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						CTGGGCCTGCCTGGCTGGGTG	0.677000													7	19					0	0	0.003080	0	0
PTGIS	5740	broad.mit.edu	37	20	48156158	48156158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:48156158G>A	ENST00000244043.4	-	5	651	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	208					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.R208C(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCGAGCTGGCGAAAGGTGTGG	0.642000													22	34					0	0	0.004656	0	0
GALNT6	11226	broad.mit.edu	37	12	51754508	51754508	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51754508G>A	ENST00000543196.2	-	6	1369	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	GALNT6_ENST00000356317.3_Silent_p.F388F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	388	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCTCACCCGGAAGGACATTT	0.537000													16	50					0	0	0.001216	0	0
TAF1C	9013	broad.mit.edu	37	16	84212935	84212935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:84212935G>A	ENST00000567759.1	-	14	2404	c.2222C>T	c.(2221-2223)tCg>tTg	p.S741L	TAF1C_ENST00000341690.6_Missense_Mutation_p.S647L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S715L|TAF1C_ENST00000541676.1_Missense_Mutation_p.S648L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S741L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S409L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	741					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCCGGGCTCCGAGGTCCTGCC	0.687000													9	14					0	0	0.004482	0	0
DESI2	51029	broad.mit.edu	37	1	244852555	244852555	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:244852555T>A	ENST00000302550.11	+	3	499	c.120T>A	c.(118-120)ttT>ttA	p.F40L	DESI2_ENST00000263831.7_Intron	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	40	PPPDE peptidase.																TTTCAGAATTTGCTTATGGTG	0.328000													33	118					0	0	0.006230	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222961	134222961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134222961C>T	ENST00000359579.4	+	8	1077	c.757C>T	c.(757-759)Cat>Tat	p.H253Y		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	253					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GATCCGTTTCCATATCCAGAG	0.493000													35	96					0	0	0.007835	0	0
TMPRSS5	80975	broad.mit.edu	37	11	113567668	113567668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:113567668G>A	ENST00000299882.5	-	6	638	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F	TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.L120F|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.L164F|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.L155F|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.L120F	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	164	SRCR.				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|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)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		ATGTCAGTGAGGTTTACTCCC	0.478000													3	5					0	0	0.004672	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13418659G>A	ENST00000360228.5	-	15	1922	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_ENST00000573710.2_Silent_p.F642F	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	642					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)	TCCCTTCATCGAAATTAAACC	0.547000													21	62					0	0	0.001882	0	0
CSMD1	64478	broad.mit.edu	37	8	3226852	3226852	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3226852G>A	ENST00000602557.1	-	20	3381	c.2826C>T	c.(2824-2826)gtC>gtT	p.V942V	CSMD1_ENST00000542608.1_Silent_p.V941V|CSMD1_ENST00000539096.1_Silent_p.V941V|CSMD1_ENST00000520002.1_Silent_p.V942V|CSMD1_ENST00000602723.1_Silent_p.V942V|CSMD1_ENST00000537824.1_Silent_p.V941V|CSMD1_ENST00000400186.3_Silent_p.V942V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	942	CUB 6.					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)		CAGGAGAAAGGACTGTTCCAC	0.398000													7	21					0	0	0.001984	0	0
STEAP4	79689	broad.mit.edu	37	7	87912034	87912034	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:87912034G>A	ENST00000380079.4	-	3	1007	c.906C>T	c.(904-906)ttC>ttT	p.F302F	STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Silent_p.F302F|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	302	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGACATGAAGGAAGGCAAATC	0.443000													9	34					0	0	0.006214	0	0
NETO1	81832	broad.mit.edu	37	18	70526091	70526091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70526091C>T	ENST00000327305.6	-	4	1096	c.439G>A	c.(439-441)Gga>Aga	p.G147R	NETO1_ENST00000397929.1_Missense_Mutation_p.G146R|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.G146R|NETO1_ENST00000583169.1_Missense_Mutation_p.G147R	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	147	CUB 1.				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)		GCTGAAAATCCCATAGATTCC	0.328000													21	49					0	0	0.001882	0	0
NPAT	4863	broad.mit.edu	37	11	108043607	108043607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108043607G>A	ENST00000278612.8	-	13	2209	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	702					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GATTCTGGAGGAAGAGAGTGA	0.433000													11	30					0	0	0.001855	0	0
PROKR2	128674	broad.mit.edu	37	20	5282769	5282769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:5282769C>T	ENST00000546004.1	-	3	1318	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	PROKR2_ENST00000217270.3_Missense_Mutation_p.G358R			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	358						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACTTGCTCCCCCGCTGGGAG	0.552000										HNSCC(71;0.22)			21	57					0	0	0.001523	0	0
XIRP2	129446	broad.mit.edu	37	2	168104177	168104177	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104177A>T	ENST00000409195.1	+	9	6364	c.6275A>T	c.(6274-6276)aAt>aTt	p.N2092I	XIRP2_ENST00000295237.9_Missense_Mutation_p.N2092I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1870I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1917					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTAAGAATAATCTAACAACT	0.403000													12	21					0	0	0.000978	0	0
DST	667	broad.mit.edu	37	6	56501404	56501404	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56501404A>C	ENST00000370754.5	-	22	2911	c.2912T>G	c.(2911-2913)cTc>cGc	p.L971R	DST_ENST00000312431.6_Missense_Mutation_p.L793R|DST_ENST00000518935.1_Missense_Mutation_p.L467R|DST_ENST00000244364.6_Missense_Mutation_p.L467R|DST_ENST00000446842.2_Missense_Mutation_p.L467R|DST_ENST00000370769.4_Missense_Mutation_p.L793R|DST_ENST00000370765.6_Missense_Mutation_p.L467R|DST_ENST00000421834.2_Missense_Mutation_p.L793R|DST_ENST00000361203.3_Missense_Mutation_p.L793R|DST_ENST00000370788.2_Missense_Mutation_p.L793R			Q03001	DYST_HUMAN	dystonin	793					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)			ACACTGGCAGAGCTGTAAGAT	0.443000													31	92					0	0	0.002836	0	0
C10orf68	79741	broad.mit.edu	37	10	33018286	33018286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33018286G>A	ENST00000375030.2	+	13	1369	c.751G>A	c.(751-753)Gat>Aat	p.D251N	C10orf68_ENST00000375028.3_Missense_Mutation_p.D219N|C10orf68_ENST00000375025.4_Missense_Mutation_p.D243N			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	243										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CAAAAAAAAGGATATATCACT	0.323000													14	50					0	0	0.003163	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Silent	SNP	C	C	T	rs147415195		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:81967122C>T	ENST00000282701.2	+	2	867	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438000													44	170					0	0	0.003610	0	0
CLDN8	9073	broad.mit.edu	37	21	31588124	31588124	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31588124G>A	ENST00000399899.1	-	1	267	c.120C>T	c.(118-120)atC>atT	p.I40I	CLDN8_ENST00000286809.1_Silent_p.I40I	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	40					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CAAAAACCACGATGTTGTTTT	0.488000													12	76					0	0	0.002450	0	0
DNAH9	1770	broad.mit.edu	37	17	11840836	11840836	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11840836A>T	ENST00000262442.3	+	66	12725	c.12657A>T	c.(12655-12657)gaA>gaT	p.E4219D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E4143D|DNAH9_ENST00000396001.2_Missense_Mutation_p.E531D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4219					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGAGAAGAAAAGGTGTGTG	0.592000													5	18					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100680287	100680287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100680287G>A	ENST00000306151.4	+	3	5654	c.5590G>A	c.(5590-5592)Gaa>Aaa	p.E1864K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1864	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACGCCTAGTGAAGGAAGCAC	0.498000													57	116					0	0	0.003610	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174578	150174578	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150174578C>T	ENST00000307271.3	+	5	2282	c.1708C>T	c.(1708-1710)Cta>Tta	p.L570L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	570						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGGAAGACCTAGGGGCGGG	0.468000													23	66					0	0	0.005443	0	0
HECTD1	25831	broad.mit.edu	37	14	31570518	31570518	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31570518C>T	ENST00000399332.1	-	42	8051	c.7563G>A	c.(7561-7563)ctG>ctA	p.L2521L	HECTD1_ENST00000553700.1_Silent_p.L2521L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2521	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCACAAACCTCAGGAAACCAG	0.408000													19	43					0	0	0.003330	0	0
SPATA19	219938	broad.mit.edu	37	11	133714505	133714505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:133714505C>T	ENST00000299140.3	-	3	220	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	SPATA19_ENST00000532889.1_Missense_Mutation_p.E56K	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	56					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GACAGCTTTTCCTTTATGCCC	0.522000													16	49					0	0	0.004990	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761667	150761667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150761667C>T	ENST00000485713.1	+	4	1312	c.272C>T	c.(271-273)cCg>cTg	p.P91L	SLC4A2_ENST00000413384.2_Missense_Mutation_p.P91L|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P82L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P77L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	91	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCTGCCTCCGGATGCACGC	0.687000													15	24					0	0	0.004990	0	0
KSR2	283455	broad.mit.edu	37	12	118199001	118199001	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199001G>A	ENST00000425217.1	-	4	768	c.714C>T	c.(712-714)atC>atT	p.I238I	KSR2_ENST00000339824.5_Silent_p.I267I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	267	Pro-rich.				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)					CGGTGGTGACGATGTTGGGGG	0.721000													65	127					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177247850	177247850	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177247850G>A	ENST00000361539.4	+	7	1476	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		388						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						AGACCCATCGGATCCTACGCC	0.612000													10	63					0	0	0.000673	0	0
VTA1	51534	broad.mit.edu	37	6	142525151	142525151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:142525151C>T	ENST00000367630.4	+	7	785	c.727C>T	c.(727-729)Cca>Tca	p.P243S	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.P185S	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	243	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CCAACCTACTCCACAGACTAT	0.393000													12	30					0	0	0.003163	0	0
OR2T6	254879	broad.mit.edu	37	1	248551611	248551611	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248551611G>A	ENST00000355728.2	+	1	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	234					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)			CTGAAGGGAGGAAGAAGGCCT	0.522000													34	60					0	0	0.002836	0	0
FBN1	2200	broad.mit.edu	37	15	48741067	48741067	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:48741067G>C	ENST00000316623.5	-	46	6024	c.5569C>G	c.(5569-5571)Ccc>Gcc	p.P1857A		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1857	EGF-like 31; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATATATTGGGGATTTCTTGA	0.348000													9	31					0	0	0.004482	0	0
USP29	57663	broad.mit.edu	37	19	57640539	57640539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640539G>A	ENST00000254181.4	+	4	950	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	USP29_ENST00000598197.1_Missense_Mutation_p.G166S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	166					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAATCAAGGTGGGAAGGG	0.363000													34	67					0	0	0.002836	0	0
COL17A1	1308	broad.mit.edu	37	10	105798832	105798832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:105798832C>T	ENST00000353479.5	-	44	3234	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	COL17A1_ENST00000369733.3_Missense_Mutation_p.E937K	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	982	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCTTACCTTCAGAAGGACCA	0.488000													15	35					0	0	0.006122	0	0
SCN9A	6335	broad.mit.edu	37	2	167056155	167056155	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167056155T>C	ENST00000303354.6	-	27	5337	c.4997A>G	c.(4996-4998)aAc>aGc	p.N1666S	SCN9A_ENST00000409435.1_Missense_Mutation_p.N1665S|SCN9A_ENST00000375387.4_Missense_Mutation_p.N1666S|SCN9A_ENST00000409672.1_Missense_Mutation_p.N1654S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1665						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATAGGCAAAGTTGGACATTCC	0.423000													45	81					0	0	0.003214	0	0
MGAM	8972	broad.mit.edu	37	7	141765569	141765569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141765569C>T	ENST00000475668.2	+	40	4762	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1570	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGTGTGTTCGCTGGATGCA	0.483000													14	8					0	0	0.001855	0	0
NOS1	4842	broad.mit.edu	37	12	117685251	117685251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:117685251C>T	ENST00000317775.6	-	18	3410	c.2725G>A	c.(2725-2727)Gaa>Aaa	p.E909K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E943K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	909	Flavodoxin-like.				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			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)	CCCAGTTCTTCCAGGAGGGTG	0.552000													23	46					0	0	0.002780	0	0
CRTC3	64784	broad.mit.edu	37	15	91181686	91181686	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:91181686C>A	ENST00000420329.2	+	12	1422	c.1275C>A	c.(1273-1275)tcC>tcA	p.S425S	CRTC3_ENST00000268184.6_Silent_p.S425S|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	425					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGATGGTGTCCTCAGACCGAA	0.547000			T	MAML2	salivary gland mucoepidermoid								13	23					2.32078e-09	3.63403e-09	0.003163	1	0
PTAFR	5724	broad.mit.edu	37	1	28477119	28477119	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28477119G>A	ENST00000373857.3	-	2	1048	c.414C>T	c.(412-414)tcC>tcT	p.S138S	PTAFR_ENST00000539896.1_Silent_p.S138S|PTAFR_ENST00000305392.3_Silent_p.S138S	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	138					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGACCAAGGACAAAGAGA	0.577000													22	35					0	0	0.002299	0	0
LILRB5	10990	broad.mit.edu	37	19	54754901	54754901	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54754901T>C	ENST00000450632.1	-	13	1811	c.1734A>G	c.(1732-1734)gcA>gcG	p.A578A	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	378					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCTGCCTGTCTGT	0.587000													3	17					0	0	0.001984	0	0
SCAF11	9169	broad.mit.edu	37	12	46320912	46320912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46320912C>T	ENST00000465950.1	-	1	2836	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	SCAF11_ENST00000549162.1_Missense_Mutation_p.E666K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E858K|SCAF11_ENST00000369367.3_Missense_Mutation_p.E858K			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	858					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCCTCCTTTCTCTTGCAATA	0.448000													42	113					0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19339425	19339425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339425C>T	ENST00000252575.5	+	8	3039	c.2996C>T	c.(2995-2997)cCt>cTt	p.P999L	NCAN_ENST00000538881.1_Missense_Mutation_p.P450L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	999					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)			CCAGGGACCCCTATGAATGCA	0.637000													10	38					0	0	0.000673	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751484	139751484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:139751484C>T	ENST00000445819.1	+	18	2250	c.2200C>T	c.(2200-2202)Ccc>Tcc	p.P734S	MAMDC4_ENST00000317446.2_Missense_Mutation_p.P655S|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	734	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTCCATGGGCCCCAGATTGG	0.667000													8	27					0	0	0.003080	0	0
ANKEF1	63926	broad.mit.edu	37	20	10026277	10026277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10026277G>A	ENST00000378380.3	+	5	1081	c.752G>A	c.(751-753)gGg>gAg	p.G251E	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.G251E	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TCGATAAATGGGAACACACCA	0.388000													19	63					0	0	0.001216	0	0
IRF3	3661	broad.mit.edu	37	19	50165465	50165465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50165465C>T	ENST00000597198.1	-	6	1103	c.722G>A	c.(721-723)tGg>tAg	p.W241*	IRF3_ENST00000377139.3_Nonsense_Mutation_p.W241*|IRF3_ENST00000599144.1_Nonsense_Mutation_p.W95*|IRF3_ENST00000598808.1_Nonsense_Mutation_p.W95*|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Nonsense_Mutation_p.W241*|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Nonsense_Mutation_p.W241*|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Nonsense_Mutation_p.W95*|IRF3_ENST00000600911.1_Nonsense_Mutation_p.W241*|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	241	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTGACTGGCCATCCAGGCAG	0.657000													13	35					0	0	0.001368	0	0
KSR2	283455	broad.mit.edu	37	12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:118199236G>A	ENST00000425217.1	-	4	533	c.479C>T	c.(478-480)cCg>cTg	p.P160L	KSR2_ENST00000339824.5_Missense_Mutation_p.P189L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)		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)					GCGGATCCACGGGGTGGGCTC	0.637000													20	33					0	0	0.001216	0	0
TENM3	55714	broad.mit.edu	37	4	183600818	183600818	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183600818G>A	ENST00000511685.1	+	8	1449		c.e8-1		TENM3_ENST00000406950.2_Splice_Site					teneurin transmembrane protein 3																		CCTCCCCCCAGTATGACTTCG	0.517000													19	46					0	0	0.001523	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065456	55065456	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55065456C>T	ENST00000526016.1	-	0	252					NR_038174.2																						CTTTGTCTCTCTGTGCATCCC	0.473000													7	13					0	0	0.001984	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3141590	3141590	+	Silent	SNP	C	C	T	rs147307513		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3141590C>T	ENST00000252463.2	-	4	660	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZSCAN10_ENST00000538082.2_Silent_p.L109L|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_Silent_p.*57*	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	191					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTCAAAGGTCAGGCACTCCT	0.527000													21	38					0	0	0.001216	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336636	35336636	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35336636C>A	ENST00000278379.3	-	3	526	c.244G>T	c.(244-246)Ggg>Tgg	p.G82W	SLC1A2_ENST00000395753.1_Missense_Mutation_p.G73W|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G73W|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G82W	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	82					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGTATATCCCCTGGGAAGGCT	0.488000													6	78					0.00307968	0.00477669	0.003080	1	0
TESK2	10420	broad.mit.edu	37	1	45887402	45887402	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45887402G>A	ENST00000372086.3	-	3	739	c.339C>T	c.(337-339)atC>atT	p.I113I	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Silent_p.I113I|TESK2_ENST00000372084.1_Silent_p.I113I|TESK2_ENST00000341771.6_Silent_p.I113I|TESK2_ENST00000538496.1_Silent_p.I30I	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	113	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATTACCTAAGGATGTTGGGAT	0.428000													39	124					0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109691436	109691436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:109691436C>T	ENST00000277225.5	+	3	5532	c.5243C>T	c.(5242-5244)cCg>cTg	p.P1748L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1748L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P593L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1748					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCCCATCCCCGCCCAAGGAC	0.567000													10	16					0	0	0.006214	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926281	8926281	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8926281C>T	ENST00000357529.3	+	7	2324	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Silent_p.D354D|RIMKLB_ENST00000538135.1_Silent_p.D354D	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	354					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGACAGCGACCCTGAAAGCA	0.567000													24	89					0	0	0.003954	0	0
SBK1	388228	broad.mit.edu	37	16	28331765	28331765	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28331765C>T	ENST00000341901.4	+	4	1587	c.798C>T	c.(796-798)ttC>ttT	p.F266F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	266	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TCGAGGAGTTCGTGCGCTGGC	0.716000													11	23					0	0	0.002450	0	0
PDE1A	5136	broad.mit.edu	37	2	183104927	183104927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:183104927C>T	ENST00000435564.1	-	3	508	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.R69Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.R103Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000409365.1_Missense_Mutation_p.R87Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.R103Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.R87Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.R103Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.R103Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCCCATTTTCCGTGTAAAGGT	0.423000													31	67					0	0	0.003271	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746220	37746220	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:37746220C>T	ENST00000539465.1	+	16	4784	c.4191C>T	c.(4189-4191)agC>agT	p.S1397S	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.S1397S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1397						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGAGGAAAAGCCACATCTGGC	0.657000													13	11					0	0	0.001368	0	0
SEC23A	10484	broad.mit.edu	37	14	39508292	39508292	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:39508292G>A	ENST00000537403.1	-	15	2747	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	SEC23A_ENST00000545328.2_Silent_p.F688F|SEC23A_ENST00000536508.1_Silent_p.F615F|SEC23A_ENST00000307712.6_Silent_p.F717F			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	717					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTGAAAGGAGGAAACGGGCCT	0.323000													26	59					0	0	0.004656	0	0
MORC2	22880	broad.mit.edu	37	22	31328619	31328619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:31328619G>A	ENST00000215862.4	-	24	3837	c.2474C>T	c.(2473-2475)tCc>tTc	p.S825F	MORC2_ENST00000397641.2_Missense_Mutation_p.S887F	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	887							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						TTCGGAAGTGGAGGGCTCTGC	0.607000													20	26					0	0	0.001882	0	0
SUSD4	55061	broad.mit.edu	37	1	223465924	223465924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:223465924C>T	ENST00000343846.3	-	2	851	c.218G>A	c.(217-219)gGg>gAg	p.G73E	SUSD4_ENST00000344029.6_Missense_Mutation_p.G73E|SUSD4_ENST00000366878.4_Missense_Mutation_p.G73E|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	73	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAAGAAAACCCCTCCGCTGGG	0.507000													23	68					0	0	0.002780	0	0
NXPE1	120400	broad.mit.edu	37	11	114401625	114401625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:114401625C>T	ENST00000536312.1	-	6	997	c.105G>A	c.(103-105)tgG>tgA	p.W35*	NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000424269.1_Nonsense_Mutation_p.W35*					neurexophilin and PC-esterase domain family, member 1																		TTAGAGCAGACCAAAGCTGAA	0.333000													10	13					0	0	0.000673	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586637	15586637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586637G>A	ENST00000292609.4	-	2	973	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.L282F			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	282					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TAGTCTCCAAGGATGACCCCA	0.622000													8	37					0	0	0.006214	0	0
TLE3	7090	broad.mit.edu	37	15	70342442	70342442	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:70342442G>A	ENST00000558939.1	-	20	3690	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	TLE3_ENST00000557997.1_Silent_p.I763I|TLE3_ENST00000557907.1_Silent_p.I763I|TLE3_ENST00000451782.2_Silent_p.I768I|TLE3_ENST00000560589.1_Silent_p.I715I|TLE3_ENST00000317509.8_Silent_p.I759I|TLE3_ENST00000440567.3_Silent_p.I761I|TLE3_ENST00000559048.1_Silent_p.I771I|TLE3_ENST00000559929.1_Silent_p.I781I|TLE3_ENST00000558379.1_Silent_p.I766I|TLE3_ENST00000539550.1_Silent_p.I698I|TLE3_ENST00000559191.1_Silent_p.I352I|TLE3_ENST00000558201.1_Silent_p.I777I|TLE3_ENST00000560939.1_Silent_p.I773I|TLE3_ENST00000442299.2_Silent_p.I763I			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	771					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGTTTAGTAGATGACCTCAT	0.527000													34	57					0	0	0.003755	0	0
B4GALNT4	338707	broad.mit.edu	37	11	372752	372752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:372752G>A	ENST00000329962.6	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	116						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGGCGGGAGGAGGTGAGCTG	0.697000													8	17					0	0	0.004482	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709695	31709695	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31709695T>G	ENST00000382835.2	-	1	317	c.292A>C	c.(292-294)Aca>Cca	p.T98P		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	98						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGGCACGCTGTCCTTTCGCAG	0.498000													41	60					0	0	0.002222	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	G	A	rs141225150	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136058G>A	ENST00000314706.3	+	1	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000													35	59					0	0	0.002836	0	0
MICU3	286097	broad.mit.edu	37	8	16961967	16961967	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16961967G>T	ENST00000318063.5	+	10	1094	c.1052G>T	c.(1051-1053)gGa>gTa	p.G351V	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		GGAAAGAAAGGAAAAGCTGAG	0.279000													17	68					1.33834e-09	2.0964e-09	0.007413	1	0
BRINP2	57795	broad.mit.edu	37	1	177247851	177247851	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:177247851A>G	ENST00000361539.4	+	7	1477	c.1165A>G	c.(1165-1167)Atc>Gtc	p.I389V	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		389						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						GACCCATCGGATCCTACGCCG	0.612000													11	64					0	0	0.000978	0	0
VLDLR	7436	broad.mit.edu	37	9	2651472	2651472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:2651472C>T	ENST00000382100.2	+	16	2665	c.2309C>T	c.(2308-2310)tCa>tTa	p.S770L	VLDLR_ENST00000382099.2_Intron	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	770	Clustered O-linked oligosaccharides.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACAGAAATTTCAGCAACTAGT	0.383000													8	23					0	0	0.006214	0	0
KRT16P6	353194	broad.mit.edu	37	17	16722222	16722222	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16722222G>A	ENST00000417510.1	-	0	1508																											AGAGTGCCATGGTGGGGCGGA	0.597000													5	6					0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140868826	140868826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140868826C>T	ENST00000252087.1	+	1	19	c.19C>T	c.(19-21)Cca>Tca	p.P7S	PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		7					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGACACTCCCACAGCTCGC	0.572000													9	32					0	0	0.006214	0	0
HOXB3	3213	broad.mit.edu	37	17	46628315	46628315	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46628315T>C	ENST00000470495.1	-	2	2124	c.677A>G	c.(676-678)aAc>aGc	p.N226S	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.N226S|HOXB3_ENST00000490677.1_Missense_Mutation_p.N92S|HOXB3_ENST00000485909.2_Missense_Mutation_p.N94S|HOXB3_ENST00000489475.1_Missense_Mutation_p.N153S|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.N94S|HOXB3_ENST00000472863.1_Missense_Mutation_p.N153S|HOXB3_ENST00000476342.1_Missense_Mutation_p.N226S|HOXB3_ENST00000498678.1_Missense_Mutation_p.N226S			P14651	HXB3_HUMAN	homeobox B3	226					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTCGCTGAGGTTCAGCAGGTT	0.607000													21	69					0	0	0.003954	0	0
MYB	4602	broad.mit.edu	37	6	135518139	135518139	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:135518139T>G	ENST00000341911.5	+	10	1443	c.1244T>G	c.(1243-1245)tTt>tGt	p.F415C	MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.F412C|MYB_ENST00000534121.1_Missense_Mutation_p.F399C|MYB_ENST00000533624.1_Intron|MYB_ENST00000367814.4_Intron	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	405	Negative regulatory domain (By similarity).				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)		TTTGAATTCTTTGAAGAAGCA	0.453000			T	NFIB	adenoid cystic carcinoma								22	93					0	0	0.002299	0	0
DNAH10	196385	broad.mit.edu	37	12	124330207	124330207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124330207G>A	ENST00000409039.3	+	30	5092	c.5067G>A	c.(5065-5067)tgG>tgA	p.W1689*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGTGTGGTGGACCTGGGAGG	0.557000													11	17					0	0	0.001368	0	0
PCNT	5116	broad.mit.edu	37	21	47817390	47817390	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47817390C>T	ENST00000359568.5	+	22	4535	c.4428C>T	c.(4426-4428)aaC>aaT	p.N1476N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1476					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTTGCGCAACCAGCGGCAAT	0.478000													22	29					0	0	0.002299	0	0
CIC	23152	broad.mit.edu	37	19	42797168	42797168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42797168C>T	ENST00000572681.2	+	16	6319	c.6251C>T	c.(6250-6252)cCc>cTc	p.P2084L	CIC_ENST00000575354.2_Missense_Mutation_p.P1177L|CIC_ENST00000160740.3_Missense_Mutation_p.P1175L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGAAGGCCCCCCAGAAAGTG	0.652000			"""Mis, F, S"""		oligodendroglioma								10	29					0	0	0.000673	0	0
TAF1L	138474	broad.mit.edu	37	9	32632307	32632307	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32632307G>A	ENST00000242310.4	-	1	3360	c.3271C>T	c.(3271-3273)Cta>Tta	p.L1091L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1091					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			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)		TTGTTCTGTAGGTCAAAGATA	0.443000													46	53					0	0	0.002222	0	0
DPPA3	359787	broad.mit.edu	37	12	7867807	7867807	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7867807G>A	ENST00000345088.2	+	2	228	c.111G>A	c.(109-111)ttG>ttA	p.L37L		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	37						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCGAGACGTTGATAAAGAACC	0.458000													51	75					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9071269	9071269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9071269G>A	ENST00000397910.4	-	3	16380	c.16177C>T	c.(16177-16179)Cca>Tca	p.P5393S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5395	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						CTCAAATTTGGAGGTGAACTG	0.507000													75	212					0	0	0.003610	0	0
RBP5	83758	broad.mit.edu	37	12	7280959	7280959	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7280959G>A	ENST00000266560.3	-	2	295	c.129C>T	c.(127-129)atC>atT	p.I43I	RBP5_ENST00000542370.1_Silent_p.I43I	NM_031491.2	NP_113679.1	P82980	RET5_HUMAN	retinol binding protein 5, cellular	43						cytoplasm	retinal binding|retinol binding|transporter activity			autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)	10					Vitamin A(DB00162)	CCTGGTGTTCGATCTCCTTGT	0.582000													20	36					0	0	0.003954	0	0
MAP1A	4130	broad.mit.edu	37	15	43815394	43815394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43815394G>A	ENST00000382031.1	+	5	2468	c.2437G>A	c.(2437-2439)Gga>Aga	p.G813R	MAP1A_ENST00000399453.1_Missense_Mutation_p.G575R|MAP1A_ENST00000300231.5_Missense_Mutation_p.G575R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	575						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCTATCCAGGGAACACCACC	0.547000													7	19					0	0	0.003080	0	0
WDR52	55779	broad.mit.edu	37	3	113098242	113098242	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113098242C>G	ENST00000393845.2	-	17	2275	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	WDR52_ENST00000295868.2_Missense_Mutation_p.E737Q	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	737	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGTAATGGctcttcttcctcc	0.463000													18	29					0	0	0.004990	0	0
CMTM5	116173	broad.mit.edu	37	14	23848025	23848025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23848025G>A	ENST00000339180.4	+	3	643	c.427G>A	c.(427-429)Ggc>Agc	p.G143S	CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	143	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCCAGCGCCTGGCTTCTGGTC	0.617000													8	17					0	0	0.006214	0	0
MUC17	140453	broad.mit.edu	37	7	100686970	100686970	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:100686970C>T	ENST00000306151.4	+	3	12337	c.12273C>T	c.(12271-12273)acC>acT	p.T4091T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4091						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCACCACCATGACCACCA	0.562000													21	43					0	0	0.001523	0	0
SPATA32	124783	broad.mit.edu	37	17	43333199	43333199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43333199C>T	ENST00000543122.1	-	6	1068	c.287G>A	c.(286-288)gGg>gAg	p.G96E	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|SPATA32_ENST00000331780.4_Missense_Mutation_p.G117E|MAP3K14-AS1_ENST00000585346.1_RNA					spermatogenesis associated 32																		CGTGGGCAGCCCCATGTTGGA	0.552000													47	87					0	0	0.003610	0	0
OTOS	150677	broad.mit.edu	37	2	241078603	241078603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:241078603G>A	ENST00000391989.2	-	5	484	c.254C>T	c.(253-255)cCc>cTc	p.P85L	OTOS_ENST00000319460.1_Missense_Mutation_p.P85L			Q8NHW6	OTOSP_HUMAN	otospiralin	85						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CTCCTGATAGGGAACGTGGAA	0.662000													10	25					0	0	0.000673	0	0
FAM187B	148109	broad.mit.edu	37	19	35719419	35719419	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:35719419G>A	ENST00000324675.3	-	1	213	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	55						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TGCCTTGTGTGAATAAATAGT	0.512000													28	49					0	0	0.001786	0	0
THSD7B	80731	broad.mit.edu	37	2	137814117	137814117	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:137814117G>A	ENST00000409968.1	+	3	445	c.267G>A	c.(265-267)aaG>aaA	p.K89K	THSD7B_ENST00000413152.2_Silent_p.K58K|THSD7B_ENST00000272643.3_Silent_p.K89K					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)		GGCCTCCAAAGGAAAGAAGTT	0.542000													8	31					0	0	0.003080	0	0
CIT	11113	broad.mit.edu	37	12	120204947	120204947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:120204947G>A	ENST00000392521.2	-	19	2303	c.2248C>T	c.(2248-2250)Cag>Tag	p.Q750*	CIT_ENST00000261833.7_Nonsense_Mutation_p.Q708*|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	708					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTAGGTGCTGGGCTGAGACT	0.483000													80	151					0	0	0.003610	0	0
ADAP2	55803	broad.mit.edu	37	17	29276332	29276332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:29276332C>T	ENST00000330889.3	+	7	1020	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	ADAP2_ENST00000580525.1_Missense_Mutation_p.R235C	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	229	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CAATGCCCTCCGTGCAGCCCG	0.557000													30	45					0	0	0.004289	0	0
TUBB6	84617	broad.mit.edu	37	18	12325201	12325201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:12325201C>T	ENST00000317702.5	+	4	647	c.413C>T	c.(412-414)tCg>tTg	p.S138L	TUBB6_ENST00000591208.1_Missense_Mutation_p.R111C|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	138					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTCACGCACTCGCTGGGCGGC	0.662000													14	32					0	0	0.002450	0	0
GRIK2	2898	broad.mit.edu	37	6	102376335	102376335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102376335G>A	ENST00000369138.1	+	13	2403	c.1913G>A	c.(1912-1914)gGc>gAc	p.G638D	GRIK2_ENST00000421544.1_Missense_Mutation_p.G638D|GRIK2_ENST00000318991.6_Missense_Mutation_p.G638D|GRIK2_ENST00000369134.4_Missense_Mutation_p.G589D|GRIK2_ENST00000369137.3_Missense_Mutation_p.G562D|GRIK2_ENST00000413795.1_Missense_Mutation_p.G638D	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	638					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATAGTGGGAGGCATTTGGTGG	0.453000													16	57					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179404953	179404953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179404953C>T	ENST00000589042.1	-	351	98164	c.97940G>A	c.(97939-97941)tGg>tAg	p.W32647*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W31006*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W23582*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W23774*|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W30079*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W23707*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31006	Ig-like 144.						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)			ACACTTGGTCCATTCATGTTG	0.458000													69	204					0	0	0.003610	0	0
HOXB1	3211	broad.mit.edu	37	17	46606983	46606983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46606983C>T	ENST00000239174.6	-	2	924	c.832G>A	c.(832-834)Gag>Aag	p.E278K	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	278						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGCTGCCTCCTTGGGGCAG	0.602000													14	60					0	0	0.004990	0	0
GPRC6A	222545	broad.mit.edu	37	6	117150119	117150119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117150119G>A	ENST00000310357.3	-	1	79	c.58C>T	c.(58-60)Cct>Tct	p.P20S	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P20S|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P20S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	20					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTCTGGCAAGGCTGTGAAGTA	0.393000													10	29					0	0	0.006214	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59271645G>A	ENST00000313253.1	+	1	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000													45	95					0	0	0.003214	0	0
VN1R2	317701	broad.mit.edu	37	19	53762659	53762659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53762659C>T	ENST00000341702.3	+	1	1115	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	344					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCGATAATTCCAGTTGGTGG	0.463000													48	122					0	0	0.003214	0	0
CARNS1	57571	broad.mit.edu	37	11	67191509	67191509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67191509G>A	ENST00000445895.2	+	9	2404	c.2290G>A	c.(2290-2292)Gcg>Acg	p.A764T	CARNS1_ENST00000423745.2_Missense_Mutation_p.A641T|CARNS1_ENST00000531040.1_Missense_Mutation_p.A738T|CARNS1_ENST00000307823.3_Missense_Mutation_p.A641T			A5YM72	CRNS1_HUMAN	carnosine synthase 1	641					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.A764T(1)|p.A199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CACTGAGACGGCGGCCTGCAT	0.642000													8	13					0	0	0.004482	0	0
BRD8	10902	broad.mit.edu	37	5	137476508	137476508	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137476508T>C	ENST00000254900.5	-	26	3872	c.3501A>G	c.(3499-3501)caA>caG	p.Q1167Q		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1167	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCGCAGGAATTGGGCCATGG	0.458000													82	224					0	0	0.003610	0	0
APPBP2	10513	broad.mit.edu	37	17	58529386	58529386	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:58529386G>A	ENST00000083182.3	-	12	1646	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	453					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)			GAATTGCTTTGATGTGCATTT	0.328000													13	61					0	0	0.004990	0	0
SLIT3	6586	broad.mit.edu	37	5	168212958	168212958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:168212958C>T	ENST00000519560.1	-	12	1524	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E369K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E369K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	369					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGACAATCTCGGTGATCTTG	0.522000													17	31					0	0	0.006122	0	0
TJP1	7082	broad.mit.edu	37	15	30025367	30025367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:30025367G>A	ENST00000346128.6	-	13	2141	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	TJP1_ENST00000400011.2_Missense_Mutation_p.S560F|TJP1_ENST00000545208.2_Missense_Mutation_p.S556F|TJP1_ENST00000356107.6_Missense_Mutation_p.S556F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	556	SH3.				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)		AGCAAGCCAAGAGCCCAGTTT	0.398000													34	53					0	0	0.004878	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208469	70208469	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70208469C>T	ENST00000253925.7	+	21	2955	c.2740C>T	c.(2740-2742)Ctg>Ttg	p.L914L	PPFIA1_ENST00000389547.3_Silent_p.L914L|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	914	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CATGTCGGCCCTGTCCGACAC	0.617000													21	36					0	0	0.001523	0	0
EFCAB3	146779	broad.mit.edu	37	17	60469323	60469323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60469323G>A	ENST00000450662.2	+	6	519	c.448G>A	c.(448-450)Gat>Aat	p.D150N	EFCAB3_ENST00000305286.3_Missense_Mutation_p.D98N	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	98							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TGCTGATATTGATCGTGAGTC	0.333000													29	83					0	0	0.007291	0	0
C16orf78	123970	broad.mit.edu	37	16	49430357	49430357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:49430357G>A	ENST00000299191.3	+	4	535	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	140										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGATGCAGTCGACCCAGAGTC	0.517000													13	28					0	0	0.004007	0	0
FCRL3	115352	broad.mit.edu	37	1	157668383	157668383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157668383G>A	ENST00000368184.3	-	4	380	c.89C>T	c.(88-90)cCa>cTa	p.P30L	FCRL3_ENST00000368186.5_Missense_Mutation_p.P30L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	30	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGTGGACCATGGAGGATTGAG	0.502000													16	44					0	0	0.004990	0	0
NLRP9	338321	broad.mit.edu	37	19	56244544	56244544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56244544G>A	ENST00000332836.2	-	2	680	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	218	NACHT.					cytoplasm	ATP binding	p.S218F(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTCTGGCTGGGAAAAAATGTC	0.478000													10	24					0	0	0.000978	0	0
IL11RA	3590	broad.mit.edu	37	9	34655248	34655248	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:34655248C>T	ENST00000555003.1	+	2	1390	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	IL11RA_ENST00000378817.4_Silent_p.L12L|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000602473.1_Silent_p.L12L|IL11RA_ENST00000318041.9_Silent_p.L12L|IL11RA_ENST00000441545.2_Silent_p.L12L|GALT_ENST00000556278.1_Silent_p.L156L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	12						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GAGCAGGGTCCTGGTGGCCGT	0.637000													12	10					0	0	0.003163	0	0
ATP10D	57205	broad.mit.edu	37	4	47538793	47538793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47538793G>A	ENST00000273859.3	+	9	1503	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ATP10D_ENST00000504445.1_Missense_Mutation_p.E397K	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	412					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTTCTACAATGAAAAAATGGA	0.398000													9	39					0	0	0.004482	0	0
MXRA5	25878	broad.mit.edu	37	X	3241234	3241234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241234G>A	ENST00000217939.6	-	5	2646	c.2492C>T	c.(2491-2493)cCt>cTt	p.P831L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	831						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGTCTGCACAGGAGATGCTGA	0.498000													23	15					0	0	0.003330	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793850	49793850	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49793850G>A	ENST00000454748.3	-	11	2154	c.1953C>T	c.(1951-1953)ccC>ccT	p.P651P	SLC6A16_ENST00000335875.4_Intron			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	651						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTGGGTCCTGGGGGAGGCTCA	0.512000													7	13					0	0	0.006214	0	0
SYT7	9066	broad.mit.edu	37	11	61291412	61291412	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61291412C>T	ENST00000263846.4	-	7	1121	c.792_splice	c.e7-1	p.G265_splice	SYT7_ENST00000542670.1_Splice_Site_p.G473_splice|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000539008.1_Splice_Site_p.G548_splice|SYT7_ENST00000535826.1_Splice_Site_p.G384_splice|SYT7_ENST00000542836.1_Splice_Site_p.G309_splice|SYT7_ENST00000540677.1_Splice_Site_p.G340_splice	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	265						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCTCGGCTCCCCTGGGAGGC	0.592000													40	66					0	0	0.006999	0	0
KRT78	196374	broad.mit.edu	37	12	53240038	53240038	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53240038C>T	ENST00000359499.4	-	4	380	c.369G>A	c.(367-369)gaG>gaA	p.E123E	KRT78_ENST00000304620.4_Silent_p.E233E			Q8N1N4	K2C78_HUMAN	keratin 78	233	Coil 1A.|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						CCAGCTTGCCCTCCAACTCCA	0.542000													14	27					0	0	0.004007	0	0
OR9A2	135924	broad.mit.edu	37	7	142724186	142724186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142724186G>A	ENST00000350513.2	-	1	96	c.34C>T	c.(34-36)Cac>Tac	p.H12Y		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	12					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)					CCTAGAAGGTGGAATTCAGTG	0.423000													15	23					0	0	0.004990	0	0
UNC119B	84747	broad.mit.edu	37	12	121157725	121157725	+	Missense_Mutation	SNP	C	C	T	rs138738738		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121157725C>T	ENST00000344651.4	+	5	686	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	216										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTTGCAGTTCGTCTAATGAT	0.433000													120	194					0	0	0.003610	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042086	59042086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:59042086C>T	ENST00000371225.2	-	1	1080	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	248					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CAGGGGTTCTCCGCGCACGCG	0.632000													8	14					0	0	0.000673	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637650	65637650	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65637650G>A	ENST00000307998.6	-	6	779	c.549C>T	c.(547-549)tcC>tcT	p.S183S	EFEMP2_ENST00000528176.1_Silent_p.S183S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	183	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGCGGAAGGAGCCAGGCA	0.672000													21	59					0	0	0.001523	0	0
DOCK3	1795	broad.mit.edu	37	3	51101926	51101926	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51101926A>G	ENST00000266037.9	+	6	386	c.363A>G	c.(361-363)gaA>gaG	p.E121E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	121						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.E121E(1)		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)		TGATGAATGAACTTATTGACC	0.473000													87	49					0	0	0.003610	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800270	43800270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:43800270C>T	ENST00000291532.3	-	10	1959	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.G335E|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.G419E|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.G333E	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	335	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCACACTTTTCCATCGGGGAA	0.552000													9	19					0	0	0.000673	0	0
ULK4	54986	broad.mit.edu	37	3	41942258	41942258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41942258C>T	ENST00000301831.4	-	13	1708	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	ULK4_ENST00000420927.1_Missense_Mutation_p.D416N	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	416							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGATCTGAGTCCGTGTAGATA	0.423000													204	123					0	0	0.003610	0	0
GBA3	57733	broad.mit.edu	37	4	22749697	22749697	+	RNA	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:22749697A>G	ENST00000508166.1	+	0	1167				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAGTATGTAAACTACTGAAAT	0.363000													7	8					0	0	0.003080	0	0
PLXNA2	5362	broad.mit.edu	37	1	208207908	208207908	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:208207908G>A	ENST00000367033.3	-	27	5551	c.4794C>T	c.(4792-4794)gtC>gtT	p.V1598V		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1598					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGTTTGGGGACCAGAGCCA	0.537000													17	31					0	0	0.001216	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436201	72436201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72436201G>A	ENST00000392627.1	+	2	1547	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	GPRC5C_ENST00000392629.2_Missense_Mutation_p.G108R|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	96						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CTTCCTTCTGGGGACCCTGGG	0.597000													32	42					0	0	0.002445	0	0
TMPO	7112	broad.mit.edu	37	12	98927237	98927237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:98927237C>T	ENST00000266732.4	+	4	1440	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	310	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACTCTATGCCCCCACTGGAT	0.448000													21	47					0	0	0.002299	0	0
PSG2	5670	broad.mit.edu	37	19	43586713	43586713	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43586713G>A	ENST00000406487.1	-	1	107	c.9C>T	c.(7-9)ccC>ccT	p.P3P	PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	3					cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGCTGAGAGGGGCCCCATGG	0.582000													24	58					0	0	0.001786	0	0
DBH	1621	broad.mit.edu	37	9	136507353	136507353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:136507353G>A	ENST00000393056.2	+	3	523	c.511G>A	c.(511-513)Ggg>Agg	p.G171R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	171	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTGGTCTACGGGATCCTGGA	0.642000													8	23					0	0	0.006214	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535735	124535735	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:124535735G>A	ENST00000408936.3	+	12	3110	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	DAB2IP_ENST00000309989.1_Silent_p.G852G|DAB2IP_ENST00000259371.2_Silent_p.G948G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	976					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCCAAGGGGGACAGCCCAG	0.647000													4	5					0	0	0.001168	0	0
MXRA5	25878	broad.mit.edu	37	X	3241150	3241150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:3241150G>A	ENST00000217939.6	-	5	2730	c.2576C>T	c.(2575-2577)tCc>tTc	p.S859F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	859						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGGAAATGGTACC	0.488000													26	17					0	0	0.003330	0	0
PPL	5493	broad.mit.edu	37	16	4944501	4944501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4944501G>A	ENST00000345988.2	-	12	1450	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	PPL_ENST00000590782.2_Missense_Mutation_p.P452L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGGGTCTGTGGGGGGGATCAC	0.612000													7	35					0	0	0.004482	0	0
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					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)				AAAGCTTTCCCGCATTCTTCA	0.408000													12	39					0	0	0.003163	0	0
ESRP1	54845	broad.mit.edu	37	8	95658469	95658469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95658469C>T	ENST00000433389.2	+	4	639	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ESRP1_ENST00000423620.2_Missense_Mutation_p.S150L|ESRP1_ENST00000358397.5_Missense_Mutation_p.S150L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S150L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	150					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGCCCTGGTTCACCTGATATT	0.348000													142	299					0	0	0.003610	0	0
VSIG2	23584	broad.mit.edu	37	11	124618586	124618586	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124618586G>A	ENST00000403470.1	-	5	715	c.660C>T	c.(658-660)acC>acT	p.T220T	VSIG2_ENST00000326621.5_Silent_p.T220T			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	220	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CCATCTGGTTGGTGGCCACAC	0.602000													9	26					0	0	0.006214	0	0
NBR1	4077	broad.mit.edu	37	17	41343548	41343548	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41343548C>T	ENST00000422280.1	+	10	1482	c.1023C>T	c.(1021-1023)ccC>ccT	p.P341P	NBR1_ENST00000590996.1_Silent_p.P341P|NBR1_ENST00000542611.1_Silent_p.P320P|NBR1_ENST00000389312.4_Silent_p.P341P|NBR1_ENST00000341165.6_Silent_p.P341P|NBR1_ENST00000589872.1_Silent_p.P341P	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	341					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCCAGAGCCCCAAGTCTCCTT	0.483000													7	9					0	0	0.004482	0	0
WDR27	253769	broad.mit.edu	37	6	170013713	170013713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:170013713G>A	ENST00000333572.6	-	22	2782	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	WDR27_ENST00000448612.1_Missense_Mutation_p.L755F|WDR27_ENST00000423258.1_Missense_Mutation_p.L628F|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	725										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GTCAGGAAAAGGTTATAAGCC	0.498000													7	45					0	0	0.001984	0	0
SAA3P	6290	broad.mit.edu	37	11	18134184	18134184	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:18134184C>T	ENST00000534768.1	-	0	476					NR_026576.1															lung(2)	2						TCTGGCAGGCCAGCAGGTCGG	0.552000													4	17					0	0	0.000248	0	0
SCN2A	6326	broad.mit.edu	37	2	166229797	166229797	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166229797C>T	ENST00000375437.2	+	21	4202	c.3912C>T	c.(3910-3912)tcC>tcT	p.S1304S	SCN2A_ENST00000375427.2_Silent_p.S1304S|SCN2A_ENST00000283256.6_Silent_p.S1304S|SCN2A_ENST00000357398.3_Silent_p.S1304S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1304					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1304S(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCATCAAATCCCTCAGAACAC	0.408000													26	73					0	0	0.005443	0	0
LARS	51520	broad.mit.edu	37	5	145493820	145493820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145493820C>T	ENST00000394434.2	-	32	3546	c.3380G>A	c.(3379-3381)cGa>cAa	p.R1127Q	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.R1081Q|LARS_ENST00000274562.9_Missense_Mutation_p.R1100Q|LARS_ENST00000510191.1_Missense_Mutation_p.R1073Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1127					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GACAGGAACTCGTCGAGGCCC	0.413000													19	37					0	0	0.001216	0	0
AADAT	51166	broad.mit.edu	37	4	171009684	171009684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:171009684C>T	ENST00000337664.4	-	2	375	c.99G>A	c.(97-99)atG>atA	p.M33I	AADAT_ENST00000509167.1_Missense_Mutation_p.M37I|AADAT_ENST00000515480.1_Missense_Mutation_p.M33I|AADAT_ENST00000353187.2_Missense_Mutation_p.M33I	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	33					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAAGGAGATCATCGATTTTG	0.388000													28	51					0	0	0.002096	0	0
UVRAG	7405	broad.mit.edu	37	11	75727929	75727929	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:75727929C>T	ENST00000356136.3	+	12	1372	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F	UVRAG_ENST00000533454.1_Silent_p.F5F|UVRAG_ENST00000528420.1_Silent_p.F276F|UVRAG_ENST00000539288.1_Silent_p.F5F|UVRAG_ENST00000531818.1_Silent_p.F5F|UVRAG_ENST00000532130.1_Silent_p.F5F	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	377					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TTTCCTTTTTCCTACAAGTGC	0.388000													43	91					0	0	0.002222	0	0
MAPK7	5598	broad.mit.edu	37	17	19284546	19284546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:19284546C>T	ENST00000308406.5	+	4	1410	c.1024C>T	c.(1024-1026)Ctt>Ttt	p.L342F	MAPK7_ENST00000395604.3_Missense_Mutation_p.L342F|MAPK7_ENST00000395602.4_Missense_Mutation_p.L342F|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.L203F	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	342	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCTGCTGCCCTTCGCCACCC	0.617000													10	41					0	0	0.000978	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999957	108999957	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108999957C>T	ENST00000272452.2	+	5	932	c.606C>T	c.(604-606)gaC>gaT	p.D202D	SULT1C4_ENST00000409309.3_Silent_p.D127D	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	202					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTATGAGGACATGAAGAAGG	0.478000													7	32					0	0	0.004482	0	0
SEPT5	5413	broad.mit.edu	37	22	19707911	19707911	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:19707911A>G	ENST00000438754.2	+	5	738	c.458A>G	c.(457-459)aAc>aGc	p.N153S	SEPT5_ENST00000455784.2_Missense_Mutation_p.N144S|SEPT5_ENST00000406395.1_Missense_Mutation_p.N144S|SEPT5_ENST00000383045.3_Missense_Mutation_p.N153S	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	144					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AGCGGCCTCAACCGAAAGAAC	0.602000													13	30					0	0	0.001368	0	0
C11orf53	341032	broad.mit.edu	37	11	111156615	111156615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:111156615C>T	ENST00000280325.4	+	4	694	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	183										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)		GCCTCCTTACCCCTTCACCCC	0.607000													20	35					0	0	0.005443	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41811714	41811714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41811714C>T	ENST00000392006.3	+	14	2569	c.2396C>T	c.(2395-2397)cCa>cTa	p.P799L	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P699L|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P695L|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P709L|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P699L|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P710L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	799	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCTATACCCCACCGCCACCC	0.622000													9	20					0	0	0.001855	0	0
APC	324	broad.mit.edu	37	5	112175372	112175372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:112175372C>T	ENST00000457016.1	+	16	4461	c.4081C>T	c.(4081-4083)Ccc>Tcc	p.P1361S	APC_ENST00000508376.2_Missense_Mutation_p.P1361S|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1361S			P25054	APC_HUMAN	adenomatous polyposis coli	1361	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.P1361fs*13(19)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCGAAATCTCCCTCCAAAAG	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			24	54					0	0	0.003954	0	0
ZNF331	55422	broad.mit.edu	37	19	54080316	54080316	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54080316T>G	ENST00000253144.9	+	7	1835	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V	ZNF331_ENST00000511154.1_Missense_Mutation_p.F168V|ZNF331_ENST00000449416.1_Missense_Mutation_p.F168V|ZNF331_ENST00000411977.2_Missense_Mutation_p.F168V|ZNF331_ENST00000512387.1_Missense_Mutation_p.F168V|ZNF331_ENST00000513999.1_Missense_Mutation_p.F168V|ZNF331_ENST00000511593.2_Missense_Mutation_p.F168V|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TAAGAAGGCCTTCCGTTGGGG	0.443000			T	?	follicular thyroid adenoma								28	94					0	0	0.001512	0	0
CDS1	1040	broad.mit.edu	37	4	85564200	85564200	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85564200C>T	ENST00000295887.5	+	11	1479	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	352					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TGTACCCTTTCCAGATCCACA	0.428000													29	152					0	0	0.001512	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190622	50190622	+	Missense_Mutation	SNP	C	C	T	rs34203986		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:50190622C>T	ENST00000335999.6	-	8	1222	c.1021G>A	c.(1021-1023)Gcc>Acc	p.A341T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	337	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCAGGAAGGCCTGTAGGTAA	0.657000													8	19					0	0	0.004482	0	0
ELMOD1	55531	broad.mit.edu	37	11	107535844	107535844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:107535844G>A	ENST00000265840.7	+	12	1191	c.926G>A	c.(925-927)aGg>aAg	p.R309K	ELMOD1_ENST00000443271.2_Missense_Mutation_p.R301K|ELMOD1_ENST00000531234.1_Missense_Mutation_p.R303K	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	309	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTCCGCAAGAGGATCATCAAA	0.458000													50	108					0	0	0.003610	0	0
ALG12	79087	broad.mit.edu	37	22	50297903	50297903	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50297903C>T	ENST00000330817.5	-	9	1436		c.e9-1			NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		AGAAGGACGTCTAGGAAAACC	0.647000													13	34					0	0	0.001855	0	0
FBXW10	10517	broad.mit.edu	37	17	18668146	18668146	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18668146G>T	ENST00000308799.4	+	7	1831	c.1612G>T	c.(1612-1614)Gta>Tta	p.V538L	FBXW10_ENST00000395667.1_Missense_Mutation_p.V509L|FBXW10_ENST00000301938.4_Missense_Mutation_p.V509L|FBXW10_ENST00000395665.4_Missense_Mutation_p.V509L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	509										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAACAGGCTCGTATCTGGAGG	0.463000													29	55					1.4709e-25	2.32214e-25	0.003610	1	0
CYP46A1	10858	broad.mit.edu	37	14	100182258	100182258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100182258G>A	ENST00000554176.1	+	3	1012	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CYP46A1_ENST00000423126.2_Missense_Mutation_p.E172K|CYP46A1_ENST00000261835.3_Missense_Mutation_p.E269K			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	269					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GAAGAGGGGCGAGGAGGTTCC	0.677000													14	28					0	0	0.002450	0	0
C12orf50	160419	broad.mit.edu	37	12	88391951	88391951	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:88391951T>G	ENST00000298699.2	-	4	330	c.150A>C	c.(148-150)aaA>aaC	p.K50N	C12orf50_ENST00000550553.1_Missense_Mutation_p.K50N	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	50										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTGAATTTCTTTCTGTAGTG	0.373000													10	33					0	0	0.001855	0	0
MED12L	116931	broad.mit.edu	37	3	150911295	150911295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:150911295G>A	ENST00000474524.1	+	14	2025	c.1987G>A	c.(1987-1989)Gga>Aga	p.G663R	MED12L_ENST00000309237.4_Missense_Mutation_p.G698R|MED12L_ENST00000422248.2_Missense_Mutation_p.G663R|MED12L_ENST00000273432.4_Missense_Mutation_p.G523R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	663					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCTATGCCTGGAGAATCCTG	0.393000													20	44					0	0	0.001523	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518099	85518099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:85518099C>T	ENST00000393217.2	+	17	3870	c.3809C>T	c.(3808-3810)tCt>tTt	p.S1270F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1270										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGATGGACTCTGTCTCCAGC	0.453000													29	64					0	0	0.005443	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654208	8654208	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8654208C>T	ENST00000270328.4	-	17	2342	c.2076G>A	c.(2074-2076)gaG>gaA	p.E692E	ADAMTS10_ENST00000595838.1_Silent_p.E179E|ADAMTS10_ENST00000597188.1_Silent_p.E692E			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	692	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCACTTGTCCTCCCGCAGGT	0.687000													12	33					0	0	0.004007	0	0
CBLN2	147381	broad.mit.edu	37	18	70205947	70205947	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:70205947T>C	ENST00000269503.4	-	4	1191	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	CBLN2_ENST00000584764.1_Missense_Mutation_p.K24E|CBLN2_ENST00000581073.1_Missense_Mutation_p.K26E|CBLN2_ENST00000585159.1_Missense_Mutation_p.K140E|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	140	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TAAATCCCTTTTCTCGGTGCT	0.413000													24	64					0	0	0.003954	0	0
MEGF10	84466	broad.mit.edu	37	5	126667112	126667112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126667112G>A	ENST00000274473.6	+	3	379	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MEGF10_ENST00000418761.2_Missense_Mutation_p.E38K|MEGF10_ENST00000508365.1_Missense_Mutation_p.E38K|MEGF10_ENST00000503335.2_Missense_Mutation_p.E38K	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	38	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TAGCCACTGGGAAAGGTAATG	0.378000													31	62					0	0	0.003271	0	0
FOCAD	54914	broad.mit.edu	37	9	20990235	20990235	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:20990235T>C	ENST00000380249.1	+	44	5482	c.5118T>C	c.(5116-5118)aaT>aaC	p.N1706N	FOCAD_ENST00000605086.1_Silent_p.N1142N|FOCAD_ENST00000338382.6_Silent_p.N1706N	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1706						integral to membrane	binding										ATCAGGAGAATGGCCCGGCTG	0.582000													14	17					0	0	0.003163	0	0
RP1L1	94137	broad.mit.edu	37	8	10470338	10470338	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470338T>C	ENST00000382483.3	-	4	1493	c.1270A>G	c.(1270-1272)Aag>Gag	p.K424E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	424					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)		CCCCACCTCTTCCGAGCTGCC	0.662000													16	25					0	0	0.006122	0	0
TPTE	7179	broad.mit.edu	37	21	10920091	10920091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10920091G>A	ENST00000298232.7	-	18	1476	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L	TPTE_ENST00000342420.5_Missense_Mutation_p.P350L|TPTE_ENST00000361285.4_Missense_Mutation_p.P388L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	388	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TACCTGAGAAGGAGTTTTTAC	0.378000													10	71					0	0	0.000673	0	0
DMRT3	58524	broad.mit.edu	37	9	990519	990519	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:990519G>A	ENST00000190165.2	+	2	971	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	311					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTCCAATGGGCACATCTTTG	0.562000													8	37					0	0	0.006214	0	0
COL14A1	7373	broad.mit.edu	37	8	121357668	121357668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:121357668C>T	ENST00000297848.3	+	45	5213	c.4943C>T	c.(4942-4944)tCc>tTc	p.S1648F	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1648F|COL14A1_ENST00000247781.3_Missense_Mutation_p.S1553F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1648					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACTCCTCATCCATCCGGACT	0.592000													12	53					0	0	0.001368	0	0
PREX2	80243	broad.mit.edu	37	8	68956771	68956771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68956771C>T	ENST00000288368.4	+	8	1166	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACCTTTTTCGTGGCCGGAT	0.398000													41	88					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521320	125521320	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125521320A>C	ENST00000431078.1	+	15	2667	c.2303A>C	c.(2302-2304)gAc>gCc	p.D768A		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	768	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGATACCGACAGATCAAAC	0.408000													5	16					0	0	0.000602	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74566695	74566695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:74566695G>A	ENST00000225276.5	-	6	1044	c.725C>T	c.(724-726)tCg>tTg	p.S242L	RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	242					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CAGAATGGCCGATCTCAGCAT	0.587000													13	19					0	0	0.004007	0	0
COMMD8	54951	broad.mit.edu	37	4	47455144	47455144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:47455144G>A	ENST00000381571.4	-	4	530	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	155	COMM.						protein binding			large_intestine(2)|lung(5)|prostate(1)	8						ATAGAATAAGGTTTTACTTCA	0.353000													28	57					0	0	0.005443	0	0
MAGI1	9223	broad.mit.edu	37	3	65376990	65376990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65376990C>T	ENST00000330909.8	-	14	2242	c.2243G>A	c.(2242-2244)aGt>aAt	p.S748N	MAGI1_ENST00000402939.2_Missense_Mutation_p.S748N|MAGI1_ENST00000497477.2_Missense_Mutation_p.S748N|MAGI1_ENST00000483466.1_Missense_Mutation_p.S748N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	748					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGGAAACACTGTGCTGAGA	0.507000													13	34					0	0	0.002450	0	0
DNAH10	196385	broad.mit.edu	37	12	124401023	124401023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124401023C>T	ENST00000409039.3	+	62	10413	c.10388C>T	c.(10387-10389)cCt>cTt	p.P3463L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3463	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTAATGACCCTGACTTCCTC	0.488000													37	85					0	0	0.002522	0	0
SOX10	6663	broad.mit.edu	37	22	38373993	38373993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38373993C>T	ENST00000396884.2	-	3	860	c.578G>A	c.(577-579)gGg>gAg	p.G193E	POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.G193E	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	193						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCGGCCTCCCCACCGGGGCA	0.682000													4	19					0	0	0.000248	0	0
TRIM29	23650	broad.mit.edu	37	11	119996561	119996561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119996561G>A	ENST00000341846.5	-	4	1592	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	TRIM29_ENST00000529044.1_Missense_Mutation_p.P130S|TRIM29_ENST00000541857.1_Missense_Mutation_p.P124S	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	391					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGCAGGGGTGGGGGGAGAGAG	0.532000													13	32					0	0	0.002450	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022661	51022661	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51022661C>T	ENST00000599957.1	-	3	506	c.309G>A	c.(307-309)acG>acA	p.T103T	LRRC4B_ENST00000389201.3_Silent_p.T103T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	103						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGAACGTGTCCGTCCGGATCA	0.652000													4	6					0	0	0.000248	0	0
PIGR	5284	broad.mit.edu	37	1	207110656	207110656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207110656C>T	ENST00000356495.4	-	4	1012	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	277	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCACAGTTTTCCCCACTGCTC	0.587000													13	53					0	0	0.001368	0	0
SYNE1	23345	broad.mit.edu	37	6	152443788	152443788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:152443788G>A	ENST00000367255.5	-	146	26778	c.26177C>T	c.(26176-26178)tCc>tTc	p.S8726F	SYNE1_ENST00000341594.5_Missense_Mutation_p.S8338F|SYNE1_ENST00000539504.1_Missense_Mutation_p.S881F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S8678F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S8726F|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.S904F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S8678F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S3250F|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8726	Ser-rich.				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)		AGAAAGGGAGGAATCGGAGCC	0.567000										HNSCC(10;0.0054)			21	65					0	0	0.002780	0	0
OR13D1	286365	broad.mit.edu	37	9	107457338	107457338	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107457338A>G	ENST00000318763.5	+	1	679	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TTACCTGTGAAATTTTGGCCC	0.383000													51	101					0	0	0.003610	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187630	100187630	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:100187630G>A	ENST00000554176.1	+	6	1242	c.576G>A	c.(574-576)gaG>gaA	p.E192E	CYP46A1_ENST00000423126.2_Silent_p.E248E|CYP46A1_ENST00000261835.3_Silent_p.E345E			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	345					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGATTTCGAGGACCTGGGGA	0.562000													20	44					0	0	0.001882	0	0
PCLO	27445	broad.mit.edu	37	7	82595441	82595441	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82595441G>A	ENST00000423517.2	-	4	4000	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I	PCLO_ENST00000333891.8_Silent_p.I1221I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1160					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						CTTCTTCAGGGATTAGTTTTT	0.378000													54	156					0	0	0.003610	0	0
LTBP4	8425	broad.mit.edu	37	19	41135420	41135420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41135420C>T	ENST00000308370.7	+	34	4837	c.4837C>T	c.(4837-4839)Ccg>Tcg	p.P1613S	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.P1576S|LTBP4_ENST00000396819.3_Missense_Mutation_p.P1546S|LTBP4_ENST00000545697.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1614	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACGCACCAGCCGCACCACTG	0.761000													6	9					0	0	0.001168	0	0
PCED1B	91523	broad.mit.edu	37	12	47628996	47628996	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:47628996A>G	ENST00000546455.1	+	4	881	c.150A>G	c.(148-150)gcA>gcG	p.A50A	PCED1B_ENST00000432328.1_Silent_p.A50A					PC-esterase domain containing 1B																		AGCTTAGAGCAAGGGGGGAGC	0.607000													8	21					0	0	0.003080	0	0
SMC1A	8243	broad.mit.edu	37	X	53440018	53440018	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:53440018T>G	ENST00000322213.4	-	5	813	c.686A>C	c.(685-687)tAc>tCc	p.Y229S	SMC1A_ENST00000375340.6_Intron|SMC1A_ENST00000463684.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	229					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTCATTATGGTAAAGCTTAAA	0.507000													11	10					0	0	0.000673	0	0
KMT2D	8085	broad.mit.edu	37	12	49433611	49433611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49433611G>A	ENST00000301067.7	-	31	7941	c.7942C>T	c.(7942-7944)Cca>Tca	p.P2648S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCAGTCCCTGGGTCTTCTCGC	0.602000													14	18					0	0	0.003163	0	0
PNPLA6	10908	broad.mit.edu	37	19	7623821	7623821	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7623821G>A	ENST00000221249.6	+	31	3800	c.3369G>A	c.(3367-3369)ggG>ggA	p.G1123G	PNPLA6_ENST00000545201.2_Silent_p.G1096G|PNPLA6_ENST00000600737.1_Silent_p.G1161G|PNPLA6_ENST00000450331.3_Silent_p.G1123G|PNPLA6_ENST00000414982.3_Silent_p.G1171G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1162	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCACCTACGGGGACAGCCTGT	0.637000													7	20					0	0	0.003080	0	0
SERPINB4	6318	broad.mit.edu	37	18	61308225	61308225	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61308225C>T	ENST00000341074.5	-	5	467	c.351_splice	c.e5-1	p.E118_splice	SERPINB4_ENST00000356424.6_Splice_Site_p.E118_splice	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCTAAATATTCCTTTGAGATA	0.343000													19	55					0	0	0.002780	0	0
ULK4	54986	broad.mit.edu	37	3	41949419	41949419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:41949419G>A	ENST00000301831.4	-	12	1562	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	ULK4_ENST00000420927.1_Missense_Mutation_p.P367L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	367							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCTAGTTCTGGGAGTAGGACG	0.418000													42	64					0	0	0.003610	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98175306	98175306	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:98175306G>A	ENST00000443455.1	-	0	1033							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GGCTATATTTGAAACAGAATC	0.333000													12	40					0	0	0.004007	0	0
NEBL	10529	broad.mit.edu	37	10	21108351	21108351	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21108351G>A	ENST00000377122.4	-	20	2452		c.e20+1		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						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						GAAACGACTTGCCGCACTCAG	0.423000													67	151					0	0	0.003610	0	0
KCNA10	3744	broad.mit.edu	37	1	111060265	111060265	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111060265A>C	ENST00000369771.2	-	1	1532	c.1145T>G	c.(1144-1146)cTc>cGc	p.L382R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	382						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCCAATGAAGAGAAAGAAGAT	0.542000													20	29					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13777418	13777418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13777418G>A	ENST00000265104.4	-	54	9102	c.8998C>T	c.(8998-9000)Cga>Tga	p.R3000*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3000	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3000*(1)		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)					CCAGCTGTTCGATACAAAACC	0.313000									Kartagener syndrome				20	42					0	0	0.001523	0	0
CENPF	1063	broad.mit.edu	37	1	214818205	214818205	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214818205G>A	ENST00000366955.3	+	13	5460	c.5292G>A	c.(5290-5292)ggG>ggA	p.G1764G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1860					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATTTCCTGGGGAATCAGGAAG	0.413000													12	35					0	0	0.000978	0	0
DCD	117159	broad.mit.edu	37	12	55039462	55039462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:55039462C>T	ENST00000456047.2	-	3	316	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	DCD_ENST00000293371.6_Missense_Mutation_p.E43K			P81605	DCD_HUMAN	dermcidin	43					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	p.E43K(1)		large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				CCTGCATTTTCCTTTTGAGCT	0.517000													34	85					0	0	0.005524	0	0
WDR59	79726	broad.mit.edu	37	16	74919580	74919580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:74919580G>A	ENST00000262144.6	-	25	2790	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	887										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGGAGGACAGGAGACAAACTT	0.448000													15	52					0	0	0.004990	0	0
PTPRD	5789	broad.mit.edu	37	9	8484184	8484184	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484184C>T	ENST00000381196.4	-	27	3891	c.3348G>A	c.(3346-3348)ggG>ggA	p.G1116G	PTPRD_ENST00000355233.5_Silent_p.G705G|PTPRD_ENST00000397606.3_Silent_p.G695G|PTPRD_ENST00000537002.1_Silent_p.G702G|PTPRD_ENST00000397611.3_Silent_p.G702G|PTPRD_ENST00000397617.3_Silent_p.G695G|PTPRD_ENST00000358503.5_Silent_p.G1094G|PTPRD_ENST00000540109.1_Silent_p.G1116G|PTPRD_ENST00000360074.4_Silent_p.G1103G|PTPRD_ENST00000486161.1_Silent_p.G705G|PTPRD_ENST00000356435.5_Silent_p.G1116G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1116					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)		AGTTGGTCTTCCCAATGAAGG	0.473000										TSP Lung(15;0.13)			17	82					0	0	0.001216	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	C	T	rs145110689		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178408731C>T	ENST00000231188.5	-	10	2739	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_ENST00000517717.1_Missense_Mutation_p.R854Q|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	854					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000													33	56					0	0	0.002836	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173217	57173217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57173217G>A	ENST00000371244.4	+	9	1556	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	497					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GGCTTACACAGACCAAGATCA	0.458000													35	92					0	0	0.003755	0	0
CDYL2	124359	broad.mit.edu	37	16	80667066	80667066	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:80667066C>T	ENST00000299564.8	-	3	839	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CDYL2_ENST00000562812.1_Silent_p.K229K|CDYL2_ENST00000566173.1_Silent_p.K229K|CDYL2_ENST00000563890.1_Silent_p.K229K	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	228						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGACGTAGTCCTTCTCCGCTT	0.498000													23	64					0	0	0.003954	0	0
DOCK3	1795	broad.mit.edu	37	3	51297746	51297746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51297746C>T	ENST00000266037.9	+	23	2367	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	782						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)		AGAAACACTCCTTTTTACTCA	0.468000													27	7					0	0	0.003755	0	0
PLG	5340	broad.mit.edu	37	6	161173178	161173178	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161173178C>T	ENST00000308192.9	+	18	2220	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1.				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)	TCAAGGAAGCCCAGCTCCCTG	0.468000													14	33					0	0	0.002450	0	0
IL27RA	9466	broad.mit.edu	37	19	14159847	14159847	+	Missense_Mutation	SNP	C	C	T	rs148333746	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:14159847C>T	ENST00000263379.2	+	9	1321	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	399	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCTCTGCTTCAGGCTTGGCC	0.552000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	37					0	0	0.001216	0	0
AWAT1	158833	broad.mit.edu	37	X	69459607	69459607	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:69459607A>C	ENST00000374521.3	+	6	696	c.655A>C	c.(655-657)Act>Cct	p.T219P		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	219					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCCCACCTTCACTTTTGGGGA	0.463000													32	15					0	0	0.004289	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256672	140256672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140256672G>A	ENST00000398631.2	+	1	1615	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGACGCCGGCGT	0.692000													41	96					0	0	0.002522	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972519	35972519	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35972519C>T	ENST00000325722.3	-	3	594	c.360G>A	c.(358-360)agG>agA	p.R120R		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	120	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGAGTGTGTCCTAAAAGCCC	0.512000													23	56					0	0	0.003954	0	0
GABBR2	9568	broad.mit.edu	37	9	101258772	101258772	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101258772G>A	ENST00000259455.2	-	4	1114	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	219					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCGCCATACAGAACTCCAGTC	0.562000													25	51					0	0	0.003330	0	0
ABCC6	368	broad.mit.edu	37	16	16259567	16259567	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16259567G>A	ENST00000205557.7	-	23	3248	c.3219C>T	c.(3217-3219)ctC>ctT	p.L1073L		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1073	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGACCTCCAGGAGTCCAAAGG	0.582000													16	29					0	0	0.006122	0	0
MEIS2	4212	broad.mit.edu	37	15	37242593	37242593	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:37242593G>A	ENST00000338564.5	-	10	1355	c.909C>T	c.(907-909)taC>taT	p.Y303Y	MEIS2_ENST00000382766.2_Silent_p.Y303Y|MEIS2_ENST00000397624.3_Silent_p.Y215Y|MEIS2_ENST00000559085.1_Silent_p.Y290Y|MEIS2_ENST00000559561.1_Silent_p.Y303Y|MEIS2_ENST00000397620.2_Silent_p.Y215Y|MEIS2_ENST00000219869.9_Silent_p.Y157Y|MEIS2_ENST00000424352.2_Silent_p.Y303Y|MEIS2_ENST00000557796.2_Silent_p.Y290Y|MEIS2_ENST00000340545.5_Silent_p.Y290Y|MEIS2_ENST00000444725.1_Silent_p.Y303Y|MEIS2_ENST00000561208.1_Silent_p.Y303Y	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	303					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTCGGAAGGGTACGGATGCT	0.383000													30	83					0	0	0.002096	0	0
THOC2	57187	broad.mit.edu	37	X	122756988	122756988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:122756988G>A	ENST00000245838.8	-	29	3681	c.3650C>T	c.(3649-3651)tCt>tTt	p.S1217F	THOC2_ENST00000491737.1_Missense_Mutation_p.S1102F|THOC2_ENST00000355725.4_Missense_Mutation_p.S1217F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1217					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATCCGATTTAGATGCACTTCC	0.398000													36	20					0	0	0.003271	0	0
SERPING1	710	broad.mit.edu	37	11	57381837	57381837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57381837G>A	ENST00000403558.1	+	7	1781	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E	SERPING1_ENST00000340687.6_Missense_Mutation_p.G392E|SERPING1_ENST00000278407.4_Missense_Mutation_p.G429E|SERPING1_ENST00000378323.4_Missense_Mutation_p.G434E|SERPING1_ENST00000378324.2_Missense_Mutation_p.G377E	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	429					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AACCTGTGTGGGCTGACAGAG	0.527000													39	66					0	0	0.001951	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899084	205899084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205899084G>A	ENST00000367135.3	-	6	766	c.653C>T	c.(652-654)tCg>tTg	p.S218L	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S218L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S218L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	218						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.S218L(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTGAGCACCGAAATCAGGAT	0.582000													16	20					0	0	0.007413	0	0
PREX2	80243	broad.mit.edu	37	8	68989694	68989694	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68989694T>C	ENST00000288368.4	+	15	1909	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	544	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAATGGATTTATGCACCATG	0.453000													15	53					0	0	0.004990	0	0
RP11-298I3.5	0	broad.mit.edu	37	14	23417112	23417112	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23417112A>G	ENST00000555074.1	-	2	160	c.161T>C	c.(160-162)gTt>gCt	p.V54A	HAUS4_ENST00000342454.8_Silent_p.L180L|HAUS4_ENST00000555986.1_Silent_p.L180L|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000541587.1_Silent_p.L225L|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000555367.1_Silent_p.L180L|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000206474.7_Silent_p.L225L|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000490506.1_Silent_p.L101L|HAUS4_ENST00000397409.4_Intron																							TCCAGCAGCAACATCTGCTCC	0.557000													27	48					0	0	0.001512	0	0
OR1D4	653166	broad.mit.edu	37	17	3144062	3144062	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3144062C>T	ENST00000531680.1	+	0	93					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		TTTGGATGTTCCTGTCCATGT	0.532000													6	62					0	0	0.003080	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554548	20554548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20554548C>T	ENST00000329697.6	-	11	1486	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	ACSM2B_ENST00000565322.1_Missense_Mutation_p.D361N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.D440N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D440N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	440					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						AGCCAAAAGTCTCCTCGAATG	0.512000													19	82					0	0	0.003330	0	0
ZNF470	388566	broad.mit.edu	37	19	57089348	57089348	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57089348C>T	ENST00000330619.8	+	6	2237	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	ZNF470_ENST00000391709.3_Silent_p.T517T|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GCAGCAAAACCTTCAGCCAGA	0.453000													12	26					0	0	0.001855	0	0
BIRC6	57448	broad.mit.edu	37	2	32640055	32640055	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:32640055T>A	ENST00000421745.2	+	10	1830	c.1696T>A	c.(1696-1698)Tgt>Agt	p.C566S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	566					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTTTTCCATGTTTATTAGC	0.393000													10	33					0	0	0.006214	0	0
ACSS3	79611	broad.mit.edu	37	12	81647105	81647105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:81647105C>T	ENST00000548058.1	+	14	2649	c.1739C>T	c.(1738-1740)aCc>aTc	p.T580I	ACSS3_ENST00000261206.3_Missense_Mutation_p.T579I|ACSS3_ENST00000548324.1_Missense_Mutation_p.T262I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	580						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						TCCCATGGTACCGTGGCAGAC	0.373000													99	219					0	0	0.003610	0	0
FMN1	342184	broad.mit.edu	37	15	33261033	33261033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33261033G>A	ENST00000334528.9	-	4	2199	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	FMN1_ENST00000561249.1_Missense_Mutation_p.P859S|FMN1_ENST00000559047.1_Missense_Mutation_p.P957S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	957	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.P734S(2)|p.P957S(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAGAGTCCAGGGGGAGGTGGG	0.597000													10	44					0	0	0.000673	0	0
DCC	1630	broad.mit.edu	37	18	50985684	50985684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:50985684G>A	ENST00000442544.2	+	24	4091	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K	DCC_ENST00000581580.1_Missense_Mutation_p.E794K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1159					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCATCATGAAGAAATGGAGAT	0.512000													35	59					0	0	0.002836	0	0
NYAP2	57624	broad.mit.edu	37	2	226446840	226446840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:226446840G>A	ENST00000272907.6	+	4	1120	c.707G>A	c.(706-708)gGa>gAa	p.G236E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	236																	AGCCCCGCGGGAGACCCCGAG	0.602000													32	81					0	0	0.002096	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968169	102968169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102968169G>A	ENST00000233954.1	+	11	1730	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	487	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGCTCTGAGCGAGCTGGACAT	0.537000													12	31					0	0	0.000978	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879233	3879233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:3879233C>T	ENST00000315677.3	-	4	1431	c.836G>A	c.(835-837)tGg>tAg	p.W279*	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.W279*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.W279*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.W279*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGTGGAGGACCAGGCGCTCTT	0.642000													17	29					0	0	0.006122	0	0
ZNF284	342909	broad.mit.edu	37	19	44591126	44591126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44591126C>T	ENST00000421176.3	+	5	1711	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TTCAAAACTTCGTTTCCATCA	0.418000													22	23					0	0	0.002299	0	0
EZH2	2146	broad.mit.edu	37	7	148512073	148512073	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:148512073A>C	ENST00000320356.2	-	14	1726	c.1605T>G	c.(1603-1605)tgT>tgG	p.C535W	EZH2_ENST00000483967.1_Missense_Mutation_p.C521W|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000460911.1_Missense_Mutation_p.C530W|EZH2_ENST00000350995.2_Missense_Mutation_p.C491W|EZH2_ENST00000476773.1_Intron	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	530	Cys-rich.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACGAACTGTCACAAGGCTGCC	0.418000			Mis		DLBCL								12	34					0	0	0.001368	0	0
GCNT3	9245	broad.mit.edu	37	15	59910957	59910957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59910957G>A	ENST00000396065.1	+	3	968	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GCNT3_ENST00000560585.1_Missense_Mutation_p.E174K	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	174					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTTTCAAAGAGGCGGTCAA	0.468000													30	49					0	0	0.001786	0	0
HK1	3098	broad.mit.edu	37	10	71144154	71144154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:71144154C>T	ENST00000448642.2	+	16	2130	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	HK1_ENST00000360289.2_Missense_Mutation_p.R534C|HK1_ENST00000298649.3_Missense_Mutation_p.R545C|HK1_ENST00000359426.6_Missense_Mutation_p.R546C|HK1_ENST00000404387.2_Missense_Mutation_p.R550C|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	546	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGTGAAAATCCGTAGTGGGAA	0.453000													41	103					0	0	0.006230	0	0
SYNRG	11276	broad.mit.edu	37	17	35930926	35930926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35930926G>A	ENST00000339208.6	-	10	1297	c.1157C>T	c.(1156-1158)cCa>cTa	p.P386L	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.P308L|SYNRG_ENST00000585472.1_Missense_Mutation_p.P307L|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.P386L|SYNRG_ENST00000394378.2_Missense_Mutation_p.P308L|SYNRG_ENST00000345615.4_Missense_Mutation_p.P308L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	386	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTTAAAGTTGGAATAGGAGC	0.488000													50	63					0	0	0.003610	0	0
PIGO	84720	broad.mit.edu	37	9	35091309	35091309	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35091309A>G	ENST00000378617.3	-	7	2969	c.2575T>C	c.(2575-2577)Ttc>Ctc	p.F859L	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.F859L|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	859					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGAAGCAGGAACACAAGGCTG	0.522000													12	35					0	0	0.001855	0	0
DCTN1	1639	broad.mit.edu	37	2	74593972	74593972	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74593972G>A	ENST00000361874.3	-	21	2721	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	DCTN1_ENST00000409868.1_Nonsense_Mutation_p.R785*|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Nonsense_Mutation_p.R765*|DCTN1_ENST00000409567.3_Nonsense_Mutation_p.R782*|DCTN1_ENST00000409438.1_Nonsense_Mutation_p.R668*|DCTN1_ENST00000407639.2_Nonsense_Mutation_p.R668*|DCTN1_ENST00000394003.3_Nonsense_Mutation_p.R795*	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	802					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						ATTCGCCTTCGGATCTTCTTG	0.552000													15	47					0	0	0.004007	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33807092	33807092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:33807092C>T	ENST00000260908.7	-	2	254	c.137G>A	c.(136-138)aGa>aAa	p.R46K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.R77K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.R75K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	78						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATTTTTTTTCTATTGTTCTC	0.423000													7	5					0	0	0.003080	0	0
ZNF474	133923	broad.mit.edu	37	5	121488489	121488489	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121488489C>T	ENST00000296600.4	+	2	1187	c.804C>T	c.(802-804)ccC>ccT	p.P268P	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	268						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCCTCAGCCCCTTCCGAATG	0.547000													12	28					0	0	0.001855	0	0
BRCA2	675	broad.mit.edu	37	13	32893344	32893344	+	Silent	SNP	A	A	G	rs28897700		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32893344A>G	ENST00000544455.1	+	3	425	c.198A>G	c.(196-198)caA>caG	p.Q66Q	BRCA2_ENST00000380152.3_Silent_p.Q66Q	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	66					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAACTCCACAAAGGAAACCAT	0.373000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	81					0	0	0.001216	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171526	150171526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150171526G>A	ENST00000307271.3	+	4	1683	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	370						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAAGATTTAGGGGATCAGGAT	0.388000													46	123					0	0	0.003610	0	0
FOXC2	2303	broad.mit.edu	37	16	86602381	86602381	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86602381C>T	ENST00000320354.4	+	1	1525	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCCAGCTGCCCTACAGATCCA	0.652000									Late-onset Hereditary Lymphedema				7	24					0	0	0.004482	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897933	182897933	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:182897933C>T	ENST00000328913.3	-	28	3328	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E1011K	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1011					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAGCTAAACTCCCTGCTGGAG	0.542000													61	102					0	0	0.003610	0	0
TLR4	7099	broad.mit.edu	37	9	120475362	120475362	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:120475362C>A	ENST00000355622.6	+	3	1057	c.956C>A	c.(955-957)aCt>aAt	p.T319N	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.T279N	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	319					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTGAGTGTGACTATTGAAAGG	0.318000													37	49					1.42033e-22	2.24071e-22	0.004289	1	0
CALN1	83698	broad.mit.edu	37	7	71488683	71488683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:71488683C>T	ENST00000395275.2	-	5	848	c.460G>A	c.(460-462)Gat>Aat	p.D154N	CALN1_ENST00000395276.2_Missense_Mutation_p.D112N|CALN1_ENST00000329008.5_Missense_Mutation_p.D112N|CALN1_ENST00000431984.1_Missense_Mutation_p.D112N|CALN1_ENST00000412588.1_Missense_Mutation_p.D154N|CALN1_ENST00000405452.2_Missense_Mutation_p.D112N	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	112						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AGAAAACCATCGCGACCTTCT	0.418000													22	77					0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179636057	179636057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179636057C>T	ENST00000589042.1	-	34	8221	c.7997G>A	c.(7996-7998)aGa>aAa	p.R2666K	TTN_ENST00000360870.5_Missense_Mutation_p.R2666K|TTN_ENST00000591111.1_Missense_Mutation_p.R2666K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2620K|TTN_ENST00000342175.6_Missense_Mutation_p.R2620K|TTN_ENST00000342992.6_Missense_Mutation_p.R2666K|TTN_ENST00000359218.5_Missense_Mutation_p.R2620K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2402	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2620K(2)|p.R2666K(2)		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)			AGACTCACTTCTGATGTTGTT	0.453000													19	43					0	0	0.001523	0	0
FGF23	8074	broad.mit.edu	37	12	4479634	4479634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:4479634G>A	ENST00000237837.1	-	3	776	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	211					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCGGCGCTCGGGAGCTCCTGT	0.716000													13	27					0	0	0.001855	0	0
NLRP11	204801	broad.mit.edu	37	19	56321627	56321627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56321627G>A	ENST00000443188.1	-	5	1059	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	NLRP11_ENST00000589093.1_Missense_Mutation_p.H117Y|NLRP11_ENST00000592953.1_Missense_Mutation_p.H18Y|NLRP11_ENST00000589824.2_Missense_Mutation_p.H117Y|NLRP11_ENST00000360133.3_Missense_Mutation_p.H117Y	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	117							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATTTATAATGAAATTTTCCA	0.388000													10	30					0	0	0.000978	0	0
ADAM7	8756	broad.mit.edu	37	8	24350739	24350739	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24350739A>G	ENST00000175238.6	+	16	1922	c.1839A>G	c.(1837-1839)ggA>ggG	p.G613G	ADAM7_ENST00000520720.1_Silent_p.G385G|ADAM7_ENST00000380789.1_Silent_p.G613G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	613	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			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)		GTGGAGAGGGAATGGTAAGAC	0.363000													8	31					0	0	0.003080	0	0
C8B	732	broad.mit.edu	37	1	57411606	57411606	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57411606C>T	ENST00000543257.1	-	8	1403	c.837G>A	c.(835-837)ggG>ggA	p.G279G	C8B_ENST00000371237.4_Silent_p.G331G|C8B_ENST00000535057.1_Silent_p.G269G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	331	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTCTGTATTCCCCGTAGCTGT	0.493000													18	39					0	0	0.007413	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914608	51914608	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51914608C>T	ENST00000353836.5	-	10	1775	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	SIGLEC10_ENST00000432469.2_Silent_p.Q435Q|SIGLEC10_ENST00000356298.5_Silent_p.Q613Q|SIGLEC10_ENST00000525998.1_Silent_p.Q428Q|SIGLEC10_ENST00000439889.2_Silent_p.Q555Q|SIGLEC10_ENST00000339313.5_Silent_p.Q613Q|SIGLEC10_ENST00000442846.3_Silent_p.Q370Q|SIGLEC10_ENST00000441969.3_Silent_p.Q460Q|SIGLEC10_ENST00000436984.2_Silent_p.Q470Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	613					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTGTGGCTTTCTGATTCCGCT	0.498000													21	56					0	0	0.001882	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463551	123463551	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:123463551C>T	ENST00000397389.2	+	7	1342	c.603C>T	c.(601-603)ctC>ctT	p.L201L	OGFOD2_ENST00000545317.1_Silent_p.L97L|OGFOD2_ENST00000454694.2_Silent_p.L97L|OGFOD2_ENST00000536150.1_Silent_p.L97L|OGFOD2_ENST00000538755.1_Silent_p.L97L|OGFOD2_ENST00000545612.1_Silent_p.L97L|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000228922.7_Silent_p.L261L|OGFOD2_ENST00000538628.1_Silent_p.L97L	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	261							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TTGGGGGCCTCTTCCAGGTGA	0.637000													20	36					0	0	0.001523	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757533	46757533	+	Missense_Mutation	SNP	G	G	C	rs36065261	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:46757533G>C	ENST00000256689.5	-	12	1474	c.1030C>G	c.(1030-1032)Ctc>Gtc	p.L344V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.L182V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	344					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TATCCAAAGAGGGCGGCAAGC	0.358000													12	47					0	0	0.001855	0	0
SPEF2	79925	broad.mit.edu	37	5	35644627	35644627	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35644627G>A	ENST00000440995.2	+	4	585	c.585_splice	c.e4+1	p.K195_splice	SPEF2_ENST00000356031.3_Splice_Site_p.K195_splice|SPEF2_ENST00000509059.1_Splice_Site_p.K195_splice|SPEF2_ENST00000282469.6_Splice_Site_p.K195_splice			Q9C093	SPEF2_HUMAN	sperm flagellar 2	195					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATTGAAAAGGTTCTATAGA	0.313000													11	18					0	0	0.000673	0	0
ZNF205	7755	broad.mit.edu	37	16	3170236	3170236	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170236C>T	ENST00000382192.3	+	7	1780	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	ZNF205_ENST00000219091.4_Silent_p.I525I|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ACGAGAAGATCCACACCACCG	0.736000													11	11					0	0	0.000673	0	0
DST	667	broad.mit.edu	37	6	56479242	56479242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56479242G>A	ENST00000370754.5	-	36	4870	c.4871C>T	c.(4870-4872)gCc>gTc	p.A1624V	DST_ENST00000312431.6_Missense_Mutation_p.A1446V|DST_ENST00000244364.6_Missense_Mutation_p.A1120V|DST_ENST00000446842.2_Missense_Mutation_p.A1120V|DST_ENST00000370769.4_Missense_Mutation_p.A1446V|DST_ENST00000421834.2_Missense_Mutation_p.A1446V|DST_ENST00000361203.3_Missense_Mutation_p.A1446V|DST_ENST00000370788.2_Missense_Mutation_p.A1446V			Q03001	DYST_HUMAN	dystonin	1446					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)			CAATTCTTTGGCTTTTTCAAC	0.358000													18	25					0	0	0.006122	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186016	143186016	+	Silent	SNP	G	G	A	rs141105678		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:143186016G>A	ENST00000316549.6	-	12	1540	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	444					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						AGGCAAATGCGATCGCTCCTC	0.428000													20	52					0	0	0.002299	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37270690G>A	ENST00000373091.3	-	15	2479	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_ENST00000373093.4_Silent_p.I821I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000													22	44					0	0	0.005443	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872404	51872404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:51872404C>T	ENST00000371497.5	+	2	3294	c.2407C>T	c.(2407-2409)Ccc>Tcc	p.P803S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P800S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P800S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	803					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGTCCTCCCCAAAGCCAC	0.562000													26	64					0	0	0.004656	0	0
EIF5	1983	broad.mit.edu	37	14	103804740	103804740	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:103804740C>T	ENST00000216554.3	+	7	1192	c.516C>T	c.(514-516)tcC>tcT	p.S172S	EIF5_ENST00000558506.1_Silent_p.S172S|EIF5_ENST00000392715.2_Silent_p.S172S	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	172					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			aaaATGGCTCCGTATCCAGCA	0.433000													4	7					0	0	0.000248	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561408	32561408	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:32561408T>C	ENST00000345122.3	+	2	1848	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S511S|ARHGAP5_ENST00000556611.1_Silent_p.S511S|ARHGAP5_ENST00000539826.2_Silent_p.S511S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	511	FF 4.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAACACCTAGTTCAGATAAAA	0.338000													15	35					0	0	0.002450	0	0
CAMK1	8536	broad.mit.edu	37	3	9802388	9802388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9802388C>T	ENST00000256460.3	-	8	874	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	233	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TCGTACTCGGCCTTCAAAATC	0.512000													19	35					0	0	0.001523	0	0
CLU	1191	broad.mit.edu	37	8	27457476	27457476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27457476C>T	ENST00000316403.10	-	7	1390	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	CLU_ENST00000560366.1_Missense_Mutation_p.E381K|CLU_ENST00000523500.1_Missense_Mutation_p.E329K|CLU_ENST00000546343.1_Missense_Mutation_p.E340K|CLU_ENST00000405140.3_Missense_Mutation_p.E329K			P10909	CLUS_HUMAN	clusterin	329					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGGAGGGATTCGTCGAGCTCC	0.557000													10	34					0	0	0.001368	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325864	61325864	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61325864C>T	ENST00000283752.5	-	5	495	c.351_splice	c.e5-1	p.E118_splice	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Splice_Site_p.E118_splice	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	118					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTAAATATTCCTTTGAGATA	0.318000													19	42					0	0	0.001216	0	0
SNORD113-5	767565	broad.mit.edu	37	14	101404591	101404591	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101404591C>T	ENST00000607261.1	+	0	68					NR_003233.1																						CTGTGTAACTCTGAGATCTGT	0.348000													47	83					0	0	0.003610	0	0
CLTC	1213	broad.mit.edu	37	17	57725728	57725728	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57725728T>C	ENST00000269122.3	+	4	921	c.647T>C	c.(646-648)tTt>tCt	p.F216S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F216S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	216	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACGTTATTTTGTTTTGCA	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								45	77					0	0	0.003610	0	0
MUC15	143662	broad.mit.edu	37	11	26584715	26584715	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584715C>T	ENST00000436318.2	-	3	1006	c.873G>A	c.(871-873)agG>agA	p.R291R	MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Silent_p.R291R|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Silent_p.R264R			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	264						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						AATCCGTTTTCCTTTTTCCAC	0.388000													23	62					0	0	0.003954	0	0
GNL3	26354	broad.mit.edu	37	3	52721594	52721594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52721594C>T	ENST00000394799.2	+	4	461	c.251C>T	c.(250-252)cCt>cTt	p.P84L	GNL3_ENST00000418458.1_Missense_Mutation_p.P96L|GNL3_ENST00000460073.1_3'UTR	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	96					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAAACTAATCCTGATATTAAG	0.373000													20	35					0	0	0.007413	0	0
BICD1	636	broad.mit.edu	37	12	32491907	32491907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:32491907C>T	ENST00000281474.5	+	8	2861	c.2758C>T	c.(2758-2760)Cca>Tca	p.P920S	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	920					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AACCGTGGCTCCACCAGGTAA	0.502000													12	37					0	0	0.001368	0	0
OR52E8	390079	broad.mit.edu	37	11	5878411	5878411	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878411G>A	ENST00000537935.1	-	1	553	c.522C>T	c.(520-522)ttC>ttT	p.F174F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCCCACAGAAGGGCAGCC	0.517000													42	78					0	0	0.002852	0	0
BTAF1	9044	broad.mit.edu	37	10	93751880	93751880	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:93751880C>A	ENST00000265990.6	+	21	3167	c.2859C>A	c.(2857-2859)tcC>tcA	p.S953S		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	953					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTAGGATCCACCTCAGAAA	0.358000													7	31					0.00307968	0.00477669	0.003080	1	0
AAK1	22848	broad.mit.edu	37	2	69759215	69759215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69759215G>A	ENST00000409085.4	-	6	990	c.614C>T	c.(613-615)cCa>cTa	p.P205L	AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.P205L|AAK1_ENST00000409068.1_Missense_Mutation_p.P205L	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	205	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CTCAGTTTGTGGATTCTGGAA	0.428000													22	85					0	0	0.001882	0	0
RBP3	5949	broad.mit.edu	37	10	48388759	48388759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:48388759C>T	ENST00000224600.4	-	1	2232	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	707	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCACCAGCTCGCCAGGGCTG	0.622000													14	45					0	0	0.004990	0	0
C12orf50	160419	broad.mit.edu	37	12	88383058	88383058	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:88383058T>A	ENST00000298699.2	-	8	863	c.683A>T	c.(682-684)aAa>aTa	p.K228I	C12orf50_ENST00000550553.1_Missense_Mutation_p.K228I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	228										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTGAACATTTTGATATGGT	0.313000													12	32					0	0	0.000978	0	0
CCSER2	54462	broad.mit.edu	37	10	86132173	86132173	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86132173A>T	ENST00000224756.8	+	2	1550	c.1365A>T	c.(1363-1365)gaA>gaT	p.E455D	CCSER2_ENST00000359979.4_Missense_Mutation_p.E455D|CCSER2_ENST00000372088.2_Missense_Mutation_p.E455D	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		CCCCCAAGGAAAATGAAAAAG	0.333000													39	132					0	0	0.003610	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926282	8926282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8926282C>T	ENST00000357529.3	+	7	2325	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000535829.1_Missense_Mutation_p.P355S|RIMKLB_ENST00000538135.1_Missense_Mutation_p.P355S	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	355					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGACAGCGACCCTGAAAGCAC	0.567000													25	89					0	0	0.004656	0	0
TMTC1	83857	broad.mit.edu	37	12	29786248	29786248	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:29786248G>A	ENST00000256062.5	-	6	1109	c.636C>T	c.(634-636)ctC>ctT	p.L212L	TMTC1_ENST00000551659.1_Silent_p.L382L|TMTC1_ENST00000381224.2_Silent_p.L274L|TMTC1_ENST00000539277.1_Silent_p.L320L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Silent_p.L382L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	320						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAAGGCCAAGAGGTAGGAAT	0.463000													18	35					0	0	0.001523	0	0
ADRA1A	148	broad.mit.edu	37	8	26722229	26722229	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:26722229G>A	ENST00000380573.3	-	2	1281	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ADRA1A_ENST00000519229.1_Silent_p.F86F|ADRA1A_ENST00000380587.1_Silent_p.F86F|ADRA1A_ENST00000380586.1_Silent_p.F86F|ADRA1A_ENST00000358857.5_Silent_p.F86F|ADRA1A_ENST00000354550.4_Silent_p.F86F|ADRA1A_ENST00000276393.4_Silent_p.F86F|ADRA1A_ENST00000380572.3_Silent_p.F86F|ADRA1A_ENST00000380581.2_Silent_p.F86F|ADRA1A_ENST00000380582.3_Silent_p.F86F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	86					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.F86F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTAGGACCTCGAAGATGGCGG	0.622000													24	68					0	0	0.003954	0	0
NPY	4852	broad.mit.edu	37	7	24329170	24329170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:24329170G>A	ENST00000407573.1	+	4	531	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NPY_ENST00000242152.2_Missense_Mutation_p.E81K|NPY_ENST00000405982.1_Missense_Mutation_p.E81K			P01303	NPY_HUMAN	neuropeptide Y	81					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTTGATGAGAGAAAGCACAGA	0.443000													17	68					0	0	0.007413	0	0
S100A8	6279	broad.mit.edu	37	1	153362584	153362584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:153362584C>T	ENST00000368733.3	-	3	446	c.277G>A	c.(277-279)Gag>Aag	p.E93K	S100A8_ENST00000368732.1_Missense_Mutation_p.E93K	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	93				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCAGCTACTCTTTGTGGCTT	0.473000													25	77					0	0	0.005443	0	0
COL6A3	1293	broad.mit.edu	37	2	238249377	238249377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238249377C>T	ENST00000295550.4	-	38	8634	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	COL6A3_ENST00000347401.3_Missense_Mutation_p.E2527K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2528K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2522K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2522K|COL6A3_ENST00000472056.1_Missense_Mutation_p.E2121K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2728	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGGGCACTTTCAAAGACATTC	0.562000													28	58					0	0	0.001512	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962301	69962301	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69962301G>A	ENST00000305231.7	+	1	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.G21G	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	21					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTAGCTCTGGGAATTGTGGAA	0.433000													45	56					0	0	0.003214	0	0
CUZD1	50624	broad.mit.edu	37	10	124596417	124596417	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124596417T>G	ENST00000368904.1	-	7	1696	c.747A>C	c.(745-747)acA>acC	p.T249T	CUZD1_ENST00000392790.1_Silent_p.T249T|CUZD1_ENST00000545804.1_Silent_p.T249T			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	249	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGGCATAATCTGTAGACAACA	0.438000													24	51					0	0	0.003954	0	0
GJD2	57369	broad.mit.edu	37	15	35046624	35046624	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35046624G>A	ENST00000290374.4	-	1	542	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	22					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTACCTCCCGATCATAGTGG	0.662000													9	18					0	0	0.000673	0	0
CD163L1	283316	broad.mit.edu	37	12	7586192	7586192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7586192C>T	ENST00000313599.3	-	3	280	c.223G>A	c.(223-225)Gat>Aat	p.D75N	CD163L1_ENST00000396630.1_Missense_Mutation_p.D75N|CD163L1_ENST00000416109.2_Missense_Mutation_p.D75N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	75	SRCR 1.					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						TTCCACCCATCATCACACACA	0.512000													35	70					0	0	0.005524	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272417	11272417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:11272417C>T	ENST00000409790.1	+	24	3262	c.3032C>T	c.(3031-3033)cCc>cTc	p.P1011L	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P98L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	1011								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						ACCCTTGTCCCCCCAGTTGAC	0.697000													6	11					0	0	0.001168	0	0
GRIK2	2898	broad.mit.edu	37	6	102266321	102266321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:102266321C>T	ENST00000369138.1	+	9	1770	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	GRIK2_ENST00000421544.1_Missense_Mutation_p.S427F|GRIK2_ENST00000318991.6_Missense_Mutation_p.S427F|GRIK2_ENST00000369134.4_Missense_Mutation_p.S378F|GRIK2_ENST00000369137.3_Missense_Mutation_p.S427F|GRIK2_ENST00000413795.1_Missense_Mutation_p.S427F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	427					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATCACAGATTCCTTATCCAAT	0.368000													7	15					0	0	0.003080	0	0
TMEM2	23670	broad.mit.edu	37	9	74319652	74319652	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74319652T>C	ENST00000377044.4	-	18	3592	c.3053A>G	c.(3052-3054)aAc>aGc	p.N1018S	TMEM2_ENST00000396272.3_Missense_Mutation_p.N11S|TMEM2_ENST00000377066.5_Missense_Mutation_p.N955S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1018						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CACCATAGGGTTGGACGGATA	0.463000													23	46					0	0	0.005443	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503759	27503759	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:27503759G>A	ENST00000356183.4	-	19	3066	c.3051C>T	c.(3049-3051)agC>agT	p.S1017S	GTF3C1_ENST00000561623.1_Silent_p.S1017S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1017				ARSS -> GRRR (in Ref. 1; AAA17985).		transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGGCCGGCTGCTGCGGGCCA	0.532000													16	61					0	0	0.001882	0	0
KRT86	3892	broad.mit.edu	37	12	52699157	52699157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52699157G>A	ENST00000293525.5	+	5	921	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	KRT86_ENST00000544024.1_Missense_Mutation_p.R290Q|KRT86_ENST00000423955.2_Missense_Mutation_p.R290Q	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	290	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCGTAGCCGGGCTGAGGCC	0.547000													18	42					0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141721447	141721447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141721447G>A	ENST00000475668.2	+	6	674	c.620G>A	c.(619-621)gGa>gAa	p.G207E	MGAM_ENST00000549489.2_Missense_Mutation_p.G207E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	207	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTTCAGTGGAAATGCTGCT	0.418000													22	46					0	0	0.001523	0	0
KRT71	112802	broad.mit.edu	37	12	52942560	52942560	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:52942560G>A	ENST00000267119.5	-	4	807	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	246	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACCTTATTGGCGTAAGCAG	0.547000													28	54					0	0	0.002836	0	0
OGDHL	55753	broad.mit.edu	37	10	50952058	50952058	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50952058C>A	ENST00000374103.4	-	14	1928	c.1843G>T	c.(1843-1845)Gac>Tac	p.D615Y	OGDHL_ENST00000432695.1_Missense_Mutation_p.D406Y|OGDHL_ENST00000419399.1_Missense_Mutation_p.D558Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	615					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ATCTTAAAGTCCTCCAGGGGC	0.617000													10	20					1.76689e-08	2.7628e-08	0.006214	1	0
FMO1	2326	broad.mit.edu	37	1	171254561	171254561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171254561G>A	ENST00000354841.4	+	8	1608	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	FMO1_ENST00000367750.3_Missense_Mutation_p.D493N|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.D430N			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	493					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACCCAGTGGGACCGAACATT	0.493000													16	38					0	0	0.004990	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691934	77691934	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77691934G>A	ENST00000296043.6	+	10	6458	c.5505G>A	c.(5503-5505)agG>agA	p.R1835R	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1835	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACAAGTATAGGATGTTCATAG	0.552000													36	71					0	0	0.005524	0	0
CHKA	1119	broad.mit.edu	37	11	67888352	67888352	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67888352A>C	ENST00000265689.4	-	1	319	c.293T>G	c.(292-294)tTc>tGc	p.F98C	CHKA_ENST00000356135.5_Missense_Mutation_p.F98C	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	98					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GCCGGGCAGGAACTCCTTGCA	0.751000													14	29					0	0	0.002299	0	0
SCN1A	6323	broad.mit.edu	37	2	166848493	166848493	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166848493G>A	ENST00000423058.2	-	26	5309	c.5292C>T	c.(5290-5292)ttC>ttT	p.F1764F	SCN1A_ENST00000375405.3_Silent_p.F1753F|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1736F|SCN1A_ENST00000303395.4_Silent_p.F1764F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1764						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACAAAAAAGAAAATTCCAA	0.453000													20	81					0	0	0.002299	0	0
CAMKV	79012	broad.mit.edu	37	3	49898378	49898378	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49898378G>A	ENST00000477224.1	-	7	1114	c.636C>T	c.(634-636)atC>atT	p.I212I	CAMKV_ENST00000467248.1_Silent_p.I137I|CAMKV_ENST00000463537.1_Silent_p.I212I|CAMKV_ENST00000488336.1_Silent_p.I212I|CAMKV_ENST00000296471.7_Intron|CAMKV_ENST00000466940.1_Silent_p.I169I			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	212	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCACTCACAGGATGTACATGA	0.592000													37	14					0	0	0.004878	0	0
C19orf44	84167	broad.mit.edu	37	19	16612055	16612055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:16612055C>T	ENST00000221671.3	+	2	608	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S151F	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	151										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACAAAACTTCCCAGAATCAA	0.483000													27	56					0	0	0.005443	0	0
RSF1	51773	broad.mit.edu	37	11	77378399	77378399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:77378399G>A	ENST00000308488.6	-	16	4191	c.3889C>T	c.(3889-3891)Cgc>Tgc	p.R1297C	RSF1_ENST00000360355.2_Missense_Mutation_p.R1266C|RSF1_ENST00000480887.1_Missense_Mutation_p.R1045C			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1297					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGCCGTTTGCGGGATGGTTTG	0.542000													30	50					0	0	0.001786	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562936	140562936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140562936G>A	ENST00000361016.2	+	1	1957	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		268	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCCAGGGATTTAGACGG	0.478000													18	37					0	0	0.006122	0	0
C1orf168	199920	broad.mit.edu	37	1	57192233	57192233	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57192233C>T	ENST00000343433.6	-	16	1897	c.1817G>A	c.(1816-1818)tGg>tAg	p.W606*	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	606										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTTGGGCTTCCACATTTTCAG	0.363000													16	74					0	0	0.001216	0	0
LRFN2	57497	broad.mit.edu	37	6	40360048	40360048	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:40360048C>T	ENST00000338305.6	-	3	2546	c.2004G>A	c.(2002-2004)caG>caA	p.Q668Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	668						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTCCTTTCTCTGACTCTTGA	0.721000													3	11					0	0	0.000248	0	0
FUT1	2523	broad.mit.edu	37	19	49253551	49253551	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49253551G>A	ENST00000310160.3	-	4	1962	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	330					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GAGTCTGGCAGGGTGAAGTTG	0.572000													15	21					0	0	0.003163	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463945	38463945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38463945G>A	ENST00000322350.5	+	22	3233	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	EGFLAM_ENST00000397210.3_Missense_Mutation_p.E106K|EGFLAM_ENST00000514476.1_Missense_Mutation_p.E106K|EGFLAM_ENST00000397202.2_Missense_Mutation_p.E329K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E729K|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E971K|EGFLAM_ENST00000506135.1_Missense_Mutation_p.E106K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	971	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.E963K(1)		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)					TGGAATGAAGGAAATTGCTCT	0.537000													11	45					0	0	0.000978	0	0
NPAS4	266743	broad.mit.edu	37	11	66190310	66190310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66190310C>T	ENST00000311034.2	+	4	772	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	199					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGCCGAGACCCCGCCCAGGT	0.627000													14	41					0	0	0.004007	0	0
ITGA1	3672	broad.mit.edu	37	5	52223419	52223419	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52223419C>T	ENST00000282588.6	+	20	3077	c.2619C>T	c.(2617-2619)atC>atT	p.I873I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	873					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CCTAGGCTATCCAAAAAGACA	0.388000													37	77					0	0	0.004878	0	0
TENM1	10178	broad.mit.edu	37	X	123654409	123654409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:123654409C>T	ENST00000422452.2	-	18	3322	c.3259G>A	c.(3259-3261)Gac>Aac	p.D1087N	TENM1_ENST00000371130.3_Missense_Mutation_p.D1087N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCATAGATGTCGGTCTTGTTC	0.433000													46	16					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38748845	38748845	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38748845C>T	ENST00000449082.2	-	25	4310	c.4311G>A	c.(4309-4311)gaG>gaA	p.E1437E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1437					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTTCTGCTCCTCTGTCATGA	0.542000													59	99					0	0	0.003610	0	0
CCDC68	80323	broad.mit.edu	37	18	52596037	52596037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:52596037C>T	ENST00000591504.1	-	8	951	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CCDC68_ENST00000337363.4_Missense_Mutation_p.G226E|CCDC68_ENST00000432185.1_Missense_Mutation_p.G226E	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	226										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACCTTTTTCCATATGTAGC	0.408000													15	32					0	0	0.002450	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149106	103149106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103149106G>A	ENST00000295269.4	+	12	2813	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	786					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						ACACGGCAGGGACCATCACAG	0.502000													5	17					0	0	0.001168	0	0
C14orf177	283598	broad.mit.edu	37	14	99182645	99182645	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:99182645G>A	ENST00000325812.2	+	3	536	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TTGGTGAAGGGAAATGCCCAA	0.552000													18	19					0	0	0.007413	0	0
PSKH1	5681	broad.mit.edu	37	16	67942834	67942834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67942834C>T	ENST00000291041.5	+	2	352	c.182C>T	c.(181-183)cCc>cTc	p.P61L		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	61						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		TATGCACACCCCTGCCCCGGT	0.597000													4	14					0	0	0.000248	0	0
CREBBP	1387	broad.mit.edu	37	16	3900527	3900527	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3900527T>A	ENST00000262367.5	-	2	1378	c.569A>T	c.(568-570)aAt>aTt	p.N190I	CREBBP_ENST00000382070.3_Missense_Mutation_p.N190I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	190					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGTTACTATTGAGGAGGCC	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						16	45					0	0	0.006122	0	0
OR13C8	138802	broad.mit.edu	37	9	107332282	107332282	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107332282C>T	ENST00000335040.1	+	1	834	c.834C>T	c.(832-834)gcC>gcT	p.A278A		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCATTGAGGCCCTCATCTCCC	0.418000													27	53					0	0	0.007291	0	0
DNAH17	8632	broad.mit.edu	37	17	76503643	76503643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76503643C>T	ENST00000389840.5	-	28	4593	c.4469G>A	c.(4468-4470)cGa>cAa	p.R1490Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1491Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTCGCTGGACCTC	0.592000													6	21					0	0	0.001168	0	0
PCSK5	5125	broad.mit.edu	37	9	78842459	78842459	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:78842459G>A	ENST00000545128.1	+	21	3205	c.2667G>A	c.(2665-2667)gaG>gaA	p.E889E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	891	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGACCTGTGAGGCCTCATGTG	0.532000													6	14					0	0	0.001168	0	0
TMC8	147138	broad.mit.edu	37	17	76128889	76128889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76128889C>T	ENST00000318430.5	+	5	843	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	157						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)			CCCTGGTAGCCGCCAGTCCCC	0.587000													19	57					0	0	0.003954	0	0
CTC1	80169	broad.mit.edu	37	17	8133691	8133691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:8133691C>T	ENST00000315684.8	-	17	2861	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	952					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAGTGTGGGTCTTCTATATAT	0.517000													14	24					0	0	0.003163	0	0
PIGQ	9091	broad.mit.edu	37	16	624338	624338	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:624338C>T	ENST00000321878.5	+	2	423	c.264C>T	c.(262-264)ttC>ttT	p.F88F	PIGQ_ENST00000026218.5_Silent_p.F88F|PIGQ_ENST00000470411.2_Silent_p.F88F|PIGQ_ENST00000409527.2_Silent_p.F88F	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	88					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGCTGTCTTCCCCCATGAGC	0.736000													7	17					0	0	0.003080	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896310	151896310	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151896310C>T	ENST00000361201.4	-	0	420					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CTGGAACTTCCTTGACGGGTC	0.537000													20	20					0	0	0.003330	0	0
RASEF	158158	broad.mit.edu	37	9	85607821	85607821	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:85607821C>T	ENST00000376447.3	-	15	2300	c.2040_splice	c.e15+1	p.M680_splice		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	680					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCACTCTTACCATGGCCAGTT	0.473000													39	120					0	0	0.003610	0	0
ROBO4	54538	broad.mit.edu	37	11	124765494	124765494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124765494C>T	ENST00000306534.3	-	6	1380	c.895G>A	c.(895-897)Gag>Aag	p.E299K	ROBO4_ENST00000533054.1_Missense_Mutation_p.E154K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	299	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCAGCTCCTCTGCCCACGGA	0.657000													29	53					0	0	0.002445	0	0
MRC2	9902	broad.mit.edu	37	17	60754832	60754832	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:60754832C>T	ENST00000303375.5	+	12	2439	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	679	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACACCAAACTCCGGTATTGCT	0.657000													12	16					0	0	0.000978	0	0
ZNF99	7652	broad.mit.edu	37	19	22941853	22941853	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22941853T>A	ENST00000397104.3	-	5	584	c.585A>T	c.(583-585)aaA>aaT	p.K195N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K286N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTCTTCACATTTATATGGTT	0.363000													11	16					0	0	0.000978	0	0
PCID2	55795	broad.mit.edu	37	13	113851353	113851353	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:113851353G>A	ENST00000246505.5	-	4	439	c.405C>T	c.(403-405)ctC>ctT	p.L135L	PCID2_ENST00000375479.2_Intron|PCID2_ENST00000351317.3_Intron|PCID2_ENST00000375457.2_Intron|PCID2_ENST00000375477.1_Intron|PCID2_ENST00000337344.4_Intron|PCID2_ENST00000375459.1_Intron	NM_001258212.1	NP_001245141.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	89					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GAGCTGAAACGAGCTTCTGTT	0.438000													34	56					0	0	0.005524	0	0
LAMC3	10319	broad.mit.edu	37	9	133911687	133911687	+	Missense_Mutation	SNP	G	G	A	rs45444592		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133911687G>A	ENST00000361069.4	+	4	1077	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	315	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGTGGGCCCGGGGCACCGCC	0.687000													9	26					0	0	0.004482	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19677462C>T	ENST00000328041.6	+	14	1710	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	505						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.L505M(1)		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						TGGTTACACCCTGGGGATTCC	0.572000													30	49					0	0	0.004289	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696949	50696949	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50696949G>A	ENST00000008391.3	+	5	1035	c.807G>A	c.(805-807)ttG>ttA	p.L269L	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	269							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GAGAGAAATTGGATAGGCTTG	0.393000													34	76					0	0	0.005524	0	0
UPF2	26019	broad.mit.edu	37	10	11985081	11985081	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:11985081T>A	ENST00000356352.2	-	16	3734	c.3261A>T	c.(3259-3261)gaA>gaT	p.E1087D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1087D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1087D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1087	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTCATCGGTTTCATTTTCCT	0.328000													143	351					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995068	140995068	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995068G>A	ENST00000285879.4	+	4	2164	c.1878G>A	c.(1876-1878)caG>caA	p.Q626Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	626							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)					CTTCTCTCCAGAGCCCTGTGA	0.567000										HNSCC(15;0.026)			69	42					0	0	0.003610	0	0
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:8758041G>A	ENST00000229335.6	-	3	300	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_ENST00000537228.1_Missense_Mutation_p.S66L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587000													15	46					0	0	0.004007	0	0
TP63	8626	broad.mit.edu	37	3	189612073	189612073	+	Missense_Mutation	SNP	G	G	A	rs142762485		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:189612073G>A	ENST00000264731.3	+	14	1914	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	TP63_ENST00000449992.1_Missense_Mutation_p.E430K|TP63_ENST00000354600.5_Missense_Mutation_p.E515K|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.E511K|TP63_ENST00000382063.4_Missense_Mutation_p.E524K|TP63_ENST00000440651.2_Missense_Mutation_p.E605K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	609					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E609K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGCTCCACGAATTCTCCTC	0.567000										HNSCC(45;0.13)			21	52					0	0	0.001882	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620254	148620254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148620254G>A	ENST00000506113.1	+	13	1702	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R407Q|ABLIM3_ENST00000356541.3_Intron|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Intron|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	407					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGGCCGGAGCTCTCCA	0.567000													14	50					0	0	0.006122	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553807	53553807	+	Silent	SNP	G	G	A	rs137924327		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:53553807G>A	ENST00000371494.4	-	11	1684	c.1557C>T	c.(1555-1557)tcC>tcT	p.S519S	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	519						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGGTGAGCTCGGAGGCCTCGG	0.632000													19	25					0	0	0.001216	0	0
ZNF536	9745	broad.mit.edu	37	19	31039262	31039262	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039262G>A	ENST00000355537.3	+	4	2883	c.2736G>A	c.(2734-2736)gtG>gtA	p.V912V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	912					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAACGGTGTGAATTTCCAAG	0.498000													55	138					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2807756	2807756	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2807756A>T	ENST00000602557.1	-	68	10869	c.10314T>A	c.(10312-10314)ggT>ggA	p.G3438G	CSMD1_ENST00000542608.1_Silent_p.G3260G|CSMD1_ENST00000520002.1_Silent_p.G3438G|CSMD1_ENST00000602723.1_Silent_p.G3261G|CSMD1_ENST00000537824.1_Silent_p.G3437G|CSMD1_ENST00000400186.3_Silent_p.G3261G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3438						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)		TACTTACATAACCATCTAGTC	0.443000													29	72					0	0	0.001512	0	0
BCL6B	255877	broad.mit.edu	37	17	6930106	6930106	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:6930106G>A	ENST00000293805.5	+	7	1229	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	379						nucleus	zinc ion binding			skin(1)	1						GCATCCATTCGGGAGAGAAGC	0.572000													14	24					0	0	0.002450	0	0
ANK3	288	broad.mit.edu	37	10	61946567	61946567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61946567C>T	ENST00000280772.1	-	17	2182	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	ANK3_ENST00000373827.2_Missense_Mutation_p.G658E|ANK3_ENST00000503366.1_Missense_Mutation_p.G647E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	664					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						GGAAGCAATTCCTTGCCGGGT	0.527000													16	42					0	0	0.007413	0	0
VSTM4	196740	broad.mit.edu	37	10	50256574	50256574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50256574C>T	ENST00000332853.3	-	6	747	c.724G>A	c.(724-726)Ggc>Agc	p.G242S		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	242						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TGCCTCTTGCCCTTCTTGGGC	0.507000													22	46					0	0	0.005443	0	0
CCP110	9738	broad.mit.edu	37	16	19539302	19539302	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19539302C>T	ENST00000396212.2	+	3	535	c.99C>T	c.(97-99)atC>atT	p.I33I	CCP110_ENST00000381396.5_Silent_p.I33I|CCP110_ENST00000396208.2_Silent_p.I33I	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	33	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTGAAAGTATCTCACTTATTC	0.388000													11	42					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179451886	179451886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179451886G>A	ENST00000589042.1	-	307	64276	c.64052C>T	c.(64051-64053)cCa>cTa	p.P21351L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19710L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12286L|TTN_ENST00000342175.6_Missense_Mutation_p.P12478L|TTN_ENST00000342992.6_Missense_Mutation_p.P18783L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12411L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19710	Ig-like 113.						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)			GACATCTGTTGGGACGCCAGG	0.433000													59	163					0	0	0.003610	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095291	107095291	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:107095291C>T	ENST00000390630.2	-	0	289																											CCAGTCCCTTCCCTGGGGGCT	0.562000													13	36					0	0	0.001523	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37431154	37431154	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37431154A>C	ENST00000374660.1	+	7	1260	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E387D|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E387D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGTTTTGGAAAAAGGAAGAT	0.378000													11	46					0	0	0.000673	0	0
DPAGT1	1798	broad.mit.edu	37	11	118969169	118969169	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118969169G>A	ENST00000409993.2	-	7	2223	c.672C>T	c.(670-672)tcC>tcT	p.S224S	DPAGT1_ENST00000354202.4_Silent_p.S224S|DPAGT1_ENST00000432443.2_Silent_p.S117S			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	224					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGAAGTAGAGGGAAAAGACAT	0.433000													23	58					0	0	0.004656	0	0
NCOR1	9611	broad.mit.edu	37	17	16097819	16097819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16097819G>A	ENST00000268712.3	-	2	322	c.65C>T	c.(64-66)cCt>cTt	p.P22L	NCOR1_ENST00000395848.1_Missense_Mutation_p.P22L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P22L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	22	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACAGAGTGAGGAGGATAACG	0.423000													6	21					0	0	0.003080	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217297570	217297570	+	Silent	SNP	C	C	T	rs139469074		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517000									Schimke Immuno-Osseous Dysplasia				38	70					0	0	0.002522	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29141779C>T	ENST00000377167.2	+	1	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	123					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						GTCATATGATCGTTATGTAGC	0.448000													66	143					0	0	0.003610	0	0
RECQL5	9400	broad.mit.edu	37	17	73625355	73625355	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:73625355G>A	ENST00000317905.5	-	16	2307	c.2148C>T	c.(2146-2148)gtC>gtT	p.V716V	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.V689V	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	716					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCCTCCAGGGACCTCCCCTC	0.692000								Other identified genes with known or suspected DNA repair function					6	16					0	0	0.001168	0	0
OR52E8	390079	broad.mit.edu	37	11	5878024	5878024	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5878024C>T	ENST00000537935.1	-	1	940	c.909G>A	c.(907-909)caG>caA	p.Q303Q	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCTCGAATCTGCTTTGTCC	0.423000													43	125					0	0	0.003610	0	0
M1AP	130951	broad.mit.edu	37	2	74834279	74834279	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74834279G>A	ENST00000290536.5	-	4	614	c.498C>T	c.(496-498)gaC>gaT	p.D166D	M1AP_ENST00000536235.1_Silent_p.D166D|M1AP_ENST00000409585.1_Silent_p.D166D|M1AP_ENST00000358434.2_5'UTR	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CTCTGGCTAGGTCTGTATCTT	0.458000													36	66					0	0	0.006230	0	0
KRT26	353288	broad.mit.edu	37	17	38926621	38926621	+	Missense_Mutation	SNP	C	C	T	rs117795478	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:38926621C>T	ENST00000335552.4	-	3	613	c.565G>A	c.(565-567)Gac>Aac	p.D189N		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	189	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACTGGTGTCGGCCTCAACA	0.493000													12	60					0	0	0.002450	0	0
OR13C9	286362	broad.mit.edu	37	9	107379931	107379931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107379931C>T	ENST00000259362.1	-	1	554	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	185					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						AGGCCAACTTCATGACAGCTA	0.408000													24	46					0	0	0.002299	0	0
AVIL	10677	broad.mit.edu	37	12	58200210	58200210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:58200210G>A	ENST00000537081.1	-	13	1582	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.S535F|AVIL_ENST00000550083.1_5'UTR			O75366	AVIL_HUMAN	advillin	535	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GTTTAGGGAGGAGGCAAAGGC	0.527000													20	29					0	0	0.007413	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775127	234775127	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:234775127G>A	ENST00000438684.1	-	0	987					NR_024322.1																						TCCTGGCTAGGAGTCAGAGTA	0.512000													22	39					0	0	0.003954	0	0
ALPK2	115701	broad.mit.edu	37	18	56274662	56274662	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56274662T>C	ENST00000361673.3	-	3	332	c.119A>G	c.(118-120)aAg>aGg	p.K40R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	40	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TACCTCTGGCTTGGGCTGACC	0.348000													23	41					0	0	0.003330	0	0
C9orf171	389799	broad.mit.edu	37	9	135374806	135374806	+	Missense_Mutation	SNP	G	G	A	rs145957603		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135374806G>A	ENST00000343036.2	+	4	499	c.451G>A	c.(451-453)Gag>Aag	p.E151K	C9orf171_ENST00000393216.2_Missense_Mutation_p.E115K|C9orf171_ENST00000393215.3_Missense_Mutation_p.E115K	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	151										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCCCACGAGCTGACCCG	0.632000													16	36					0	0	0.003163	0	0
ANO4	121601	broad.mit.edu	37	12	101333228	101333228	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101333228A>G	ENST00000392979.3	+	3	552	c.192_splice	c.e3+1	p.E64_splice	ANO4_ENST00000538618.1_Splice_Site_p.E265_splice|ANO4_ENST00000392977.3_Splice_Site_p.E99_splice|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	99						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCGGGGGAGAGGTAAGAGTA	0.438000										HNSCC(74;0.22)			5	52					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:31323920C>T	ENST00000269197.5	+	12	4108	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	80					0	0	0.002852	0	0
OR5B21	219968	broad.mit.edu	37	11	58275299	58275299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58275299C>T	ENST00000360374.2	-	1	279	c.280G>A	c.(280-282)Gga>Aga	p.G94R		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCACATCCATCGTAGGAG	0.552000													5	11					0	0	0.000602	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363869	4363869	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4363869G>A	ENST00000269886.3	-	6	650	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	SH3GL1_ENST00000598564.1_Silent_p.L94L|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Silent_p.L110L	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	158	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGTTTCTTCAGGTGGTGCTGG	0.632000			T	MLL	AL								9	39					0	0	0.000673	0	0
TRBC2	28638	broad.mit.edu	37	7	142499083	142499083	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142499083C>T	ENST00000466254.1	+	0	359																											TCACCCAGATCGTCAGCGCCG	0.597000													16	93					0	0	0.001216	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774018	14774018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:14774018G>A	ENST00000261170.3	-	23	2870	c.2734C>T	c.(2734-2736)Ctt>Ttt	p.L912F		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	912	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGCCAGGAAGATGCTCCAGC	0.473000													17	42					0	0	0.007413	0	0
KLK8	11202	broad.mit.edu	37	19	51501066	51501066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51501066C>T	ENST00000600767.1	-	6	1057	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.G190R|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.G235R|KLK8_ENST00000347619.4_Missense_Mutation_p.G49R			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	190	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGATCTGCCCCGGGTAAGCA	0.502000													32	60					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9057556	9057556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057556C>T	ENST00000397910.4	-	3	30093	c.29890G>A	c.(29890-29892)Ggg>Agg	p.G9964R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9966	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						GCTGTAGCCCCAGGAGAACTT	0.483000													91	170					0	0	0.003610	0	0
MLH3	27030	broad.mit.edu	37	14	75483880	75483880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75483880G>A	ENST00000355774.2	-	13	4482	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	MLH3_ENST00000380968.2_Missense_Mutation_p.R361C|MLH3_ENST00000238662.7_Missense_Mutation_p.R1399C|MLH3_ENST00000556740.1_Missense_Mutation_p.R1423C|MLH3_ENST00000556257.1_Missense_Mutation_p.R1245C	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1423					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCCATTTTGCGAAGTTTAGTG	0.478000								Mismatch excision repair (MMR)					22	61					0	0	0.001523	0	0
RASSF2	9770	broad.mit.edu	37	20	4773228	4773228	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:4773228C>T	ENST00000379400.3	-	6	528	c.333G>A	c.(331-333)gaG>gaA	p.E111E	RASSF2_ENST00000379376.2_Silent_p.E111E|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	111					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGGCATCCACCTCTGAGATCT	0.567000													12	26					0	0	0.004007	0	0
NLRP13	126204	broad.mit.edu	37	19	56424257	56424257	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56424257A>T	ENST00000588751.1	-	5	950	c.926T>A	c.(925-927)aTt>aAt	p.I309N	NLRP13_ENST00000342929.3_Missense_Mutation_p.I309N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	309	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCATCAATAATAAACAGGAG	0.453000													9	41					0	0	0.006214	0	0
PTGS1	5742	broad.mit.edu	37	9	125140808	125140808	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125140808A>T	ENST00000373698.5	+	0	337				PTGS1_ENST00000540753.1_Missense_Mutation_p.N78I|PTGS1_ENST00000223423.4_Missense_Mutation_p.N103I|PTGS1_ENST00000362012.2_Missense_Mutation_p.N103I	NM_001271165.1	NP_001258094.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)						cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GAGTTTGTCAATGCCACCTTC	0.627000													20	36					0	0	0.001216	0	0
ASB11	140456	broad.mit.edu	37	X	15311435	15311435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:15311435C>T	ENST00000537676.1	-	4	386	c.314G>A	c.(313-315)gGa>gAa	p.G105E	ASB11_ENST00000344384.4_Missense_Mutation_p.G105E|ASB11_ENST00000480796.1_Missense_Mutation_p.G126E|ASB11_ENST00000380470.3_Missense_Mutation_p.G109E			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	126					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AACTGTCACTCCATTGACCTA	0.493000													46	19					0	0	0.003214	0	0
PSG7	5676	broad.mit.edu	37	19	43429979	43429979	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43429979G>A	ENST00000446844.3	-	0	1278				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.468000													56	125					0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8518298	8518298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8518298C>T	ENST00000381196.4	-	18	1636	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	PTPRD_ENST00000355233.5_Missense_Mutation_p.E365K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E355K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E362K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E362K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E355K|PTPRD_ENST00000358503.5_Missense_Mutation_p.E352K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E365K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E352K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E365K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E365K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	365	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.E364_E365>D*(4)		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)		TTGTAAAGTTCCTCAGAGTTT	0.458000										TSP Lung(15;0.13)			43	79					0	0	0.001951	0	0
PSG7	5676	broad.mit.edu	37	19	43441322	43441322	+	RNA	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43441322T>G	ENST00000471557.1	-	0	8				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCCTTCCTCCTTCTGCACTGA	0.602000													5	8					0	0	0.000602	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62893304	62893304	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62893304G>A	ENST00000584306.1	-	3	602	c.72C>T	c.(70-72)ctC>ctT	p.L24L	LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.L24L|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	24						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCCACATAAGGAGGGGCCATG	0.632000													18	164					0	0	0.001882	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458524	120458524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:120458524G>A	ENST00000256646.2	-	34	7040	c.6821C>T	c.(6820-6822)cCa>cTa	p.P2274L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2274					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCTCAGCTGGAGCCAGGAC	0.572000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				136	273					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138442299	138442299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138442299C>T	ENST00000344876.4	-	4	3678	c.3292G>A	c.(3292-3294)Gaa>Aaa	p.E1098K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E877K|PCDH18_ENST00000511115.1_Missense_Mutation_p.E278K|PCDH18_ENST00000412923.2_Missense_Mutation_p.E1097K|PCDH18_ENST00000510305.1_Missense_Mutation_p.E309K	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1098	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E1098K(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAATCATCTTCCTCATAATTT	0.488000													10	36					0	0	0.006214	0	0
HYDIN	54768	broad.mit.edu	37	16	71218768	71218768	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:71218768C>T	ENST00000393567.2	-	3	411	c.261_splice	c.e3+1	p.K87_splice	HYDIN_ENST00000448089.2_Splice_Site_p.K87_splice|HYDIN_ENST00000393550.2_Splice_Site_p.K87_splice|HYDIN_ENST00000321489.5_Splice_Site_p.K87_splice|HYDIN_ENST00000288168.10_Splice_Site_p.K104_splice|HYDIN_ENST00000538248.1_Splice_Site_p.K114_splice|HYDIN_ENST00000541601.1_Splice_Site_p.K104_splice|HYDIN_ENST00000448691.1_Splice_Site_p.K87_splice	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	87										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)				GAGCAGCTACCTTCTGATGTG	0.438000													31	106					0	0	0.004878	0	0
NFATC2	4773	broad.mit.edu	37	20	50140318	50140318	+	Silent	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50140318G>C	ENST00000371564.3	-	2	681	c.462C>G	c.(460-462)ccC>ccG	p.P154P	NFATC2_ENST00000414705.1_Silent_p.P134P|NFATC2_ENST00000396009.3_Silent_p.P154P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	154	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGCCGGGCACGGGCAGGGTGA	0.697000													13	5					0	0	0.001368	0	0
KIAA0368	23392	broad.mit.edu	37	9	114206668	114206668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:114206668G>A	ENST00000259335.4	-	5	793	c.794C>T	c.(793-795)tCc>tTc	p.S265F	KIAA0368_ENST00000338205.5_Missense_Mutation_p.S87F	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTGACAAAGGAAACTGCAGC	0.388000													24	27					0	0	0.003330	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207391	45207391	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45207391C>T	ENST00000587331.1	+	4	701	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CEACAM16_ENST00000405314.2_Silent_p.V162V|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	162										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)				CCGCCGAGGTCCGCTGGTTCT	0.706000													10	41					0	0	0.000673	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531767	140531767	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140531767G>A	ENST00000231136.1	+	1	1929	c.1929G>A	c.(1927-1929)aaG>aaA	p.K643K	PCDHB6_ENST00000543635.1_Silent_p.K507K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		643	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTTGTCAAGGACAATGGCG	0.697000													13	44					0	0	0.003163	0	0
ZNF704	619279	broad.mit.edu	37	8	81582739	81582739	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:81582739C>T	ENST00000327835.3	-	5	889	c.659_splice	c.e5+1	p.G220_splice	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	220						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGCCTTACCCCAGATGGATG	0.522000													11	64					0	0	0.000978	0	0
OR4C12	283093	broad.mit.edu	37	11	50003823	50003823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003823G>A	ENST00000335238.4	-	1	248	c.215C>T	c.(214-216)tCt>tTt	p.S72F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAAGAAGAAGAATAAACTGT	0.438000													21	47					0	0	0.001216	0	0
DNAH17	8632	broad.mit.edu	37	17	76475110	76475110	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76475110G>A	ENST00000389840.5	-	51	8071	c.7947C>T	c.(7945-7947)ttC>ttT	p.F2649F	DNAH17_ENST00000585328.1_Silent_p.F2658F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCAGTACCTGGAAAATATTGG	0.478000													7	26					0	0	0.003080	0	0
DNAH2	146754	broad.mit.edu	37	17	7691316	7691316	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7691316G>A	ENST00000572933.1	+	43	8201		c.e43+1		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGGCCAAAGGTATGAAGGGA	0.562000													20	41					0	0	0.001523	0	0
KLK6	5653	broad.mit.edu	37	19	51465061	51465061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51465061C>T	ENST00000376851.3	-	5	960	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KLK6_ENST00000391808.1_Missense_Mutation_p.G67D|KLK6_ENST00000594641.1_Missense_Mutation_p.G174D|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.G67D|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.G174D	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	174	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GGTGATCTGGCCAGGGTAGGC	0.572000													11	39					0	0	0.000978	0	0
COL22A1	169044	broad.mit.edu	37	8	139824047	139824047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139824047C>T	ENST00000303045.6	-	9	1890	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E482K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	482	Collagen-like 1.|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)			AATACCTTCTCTCCAGCTGGG	0.602000										HNSCC(7;0.00092)			19	36					0	0	0.002299	0	0
CLN8	2055	broad.mit.edu	37	8	1728728	1728728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1728728C>T	ENST00000331222.4	+	3	1103	c.856C>T	c.(856-858)Cca>Tca	p.P286S	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	286					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GAAGAAGAGGCCATAGCTGCT	0.597000													18	36					0	0	0.004990	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357426	36357426	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36357426C>T	ENST00000347900.6	+	15	1950	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	KIRREL2_ENST00000360202.5_3'UTR|NPHS1_ENST00000591817.1_5'UTR|KIRREL2_ENST00000262625.7_Silent_p.S630S|KIRREL2_ENST00000586102.2_3'UTR	NM_199179.2	NP_954648.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	0					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGATCTCCAACTTGCCAT	0.522000													27	76					0	0	0.005443	0	0
CPSF1	29894	broad.mit.edu	37	8	145619980	145619980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145619980G>A	ENST00000349769.3	-	31	3540	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1149					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCAGGCTCGGGCACCACCTC	0.612000													9	23					0	0	0.000978	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520845	175520845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:175520845G>A	ENST00000454872.1	+	14	2370	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	748					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATACTTATAGAGGCTTGGGA	0.388000													12	26					0	0	0.001368	0	0
GRIA2	2891	broad.mit.edu	37	4	158224878	158224878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:158224878C>T	ENST00000296526.7	+	3	729	c.404C>T	c.(403-405)gCt>gTt	p.A135V	GRIA2_ENST00000507898.1_Missense_Mutation_p.A88V|GRIA2_ENST00000449365.1_Missense_Mutation_p.A88V|GRIA2_ENST00000264426.9_Missense_Mutation_p.A135V|GRIA2_ENST00000393815.2_Missense_Mutation_p.A88V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	135					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCAAAGGAGCTCTCCTTAGC	0.458000													21	110					0	0	0.003330	0	0
OR13H1	347468	broad.mit.edu	37	X	130678879	130678879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130678879G>A	ENST00000338616.3	+	1	930	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGTGTTTTATGGAGCTTTGAC	0.423000													38	22					0	0	0.004289	0	0
CD1E	913	broad.mit.edu	37	1	158325175	158325175	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158325175C>T	ENST00000444681.2	+	2	437	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CD1E_ENST00000368167.3_Silent_p.F147F|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Silent_p.F147F|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Silent_p.F147F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Silent_p.F145F|CD1E_ENST00000368163.3_Silent_p.F147F|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	147					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGTCAGATTTCCTGAGTTTCC	0.468000													23	81					0	0	0.002299	0	0
ANKEF1	63926	broad.mit.edu	37	20	10019183	10019183	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10019183C>T	ENST00000378380.3	+	2	563	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.D78D	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		ATGTGCAAGACCGAATGGGCT	0.443000													25	43					0	0	0.004656	0	0
FAM71D	161142	broad.mit.edu	37	14	67664924	67664924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:67664924G>A	ENST00000556046.1	+	3	270	c.46G>A	c.(46-48)Gat>Aat	p.D16N				Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D	16										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CAATAAGCAAGATGCTCTCTG	0.433000													41	89					0	0	0.002522	0	0
TMCC3	57458	broad.mit.edu	37	12	94975716	94975716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:94975716G>A	ENST00000261226.4	-	2	808	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TMCC3_ENST00000551457.1_Missense_Mutation_p.S195F	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	226						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CTCCTCTAAGGAATTTTTCAA	0.498000													30	46					0	0	0.007291	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586610	15586610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586610C>T	ENST00000292609.4	-	2	1000	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E291K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	291					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCCGGGGCTCAGGAGTCCGG	0.612000													8	27					0	0	0.004482	0	0
RNASE13	440163	broad.mit.edu	37	14	21502418	21502418	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21502418G>A	ENST00000382951.3	-	2	167	c.30C>T	c.(28-30)ttC>ttT	p.F10F	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	10						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		CAAGCTGGAGGAAAAGGAGCC	0.542000													15	25					0	0	0.004007	0	0
EPHA6	285220	broad.mit.edu	37	3	96706243	96706243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:96706243G>A	ENST00000389672.5	+	3	558	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E174K|EPHA6_ENST00000542517.1_Missense_Mutation_p.E80K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	79	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TAATGTAATGGAACCAAACCA	0.388000													40	93					0	0	0.007835	0	0
LILRP2	79166	broad.mit.edu	37	19	55224626	55224626	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55224626G>A	ENST00000413439.1	+	0	1798																											ACACAGTGGAGAATCTCATCC	0.582000													4	14					0	0	0.000602	0	0
FOXH1	8928	broad.mit.edu	37	8	145699683	145699683	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145699683T>A	ENST00000377317.4	-	3	1614	c.1036A>T	c.(1036-1038)Agc>Tgc	p.S346C		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	346	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGAGGGTGGCTGACCCAAACG	0.672000													9	33					0	0	0.004482	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081271	178081271	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178081271G>A	ENST00000411529.2	+	5	579	c.528G>A	c.(526-528)gtG>gtA	p.V176V	HNRNPA3_ENST00000435711.1_Silent_p.V198V|HNRNPA3_ENST00000392524.2_Silent_p.V198V	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	198	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						ATTGTGAAGTGAAAAAGGCCC	0.343000													26	64					0	0	0.001786	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482275	152482275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:152482275C>T	ENST00000356661.5	-	3	954	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	246	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTACTTTTCCTGCACCAAA	0.572000													30	20					0	0	0.001512	0	0
PCDH15	65217	broad.mit.edu	37	10	55582235	55582235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:55582235G>A	ENST00000361849.3	-	34	5651	c.5257C>T	c.(5257-5259)Cct>Tct	p.P1753S	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1682S|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1711S|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1751S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1728S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1748S	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1751					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gaaataggaggaggaggggga	0.468000										HNSCC(58;0.16)			3	9					0	0	0.000248	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	39					0	0	0.000602	0	0
PTPRF	5792	broad.mit.edu	37	1	44069127	44069127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:44069127C>T	ENST00000359947.4	+	15	2721	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	PTPRF_ENST00000372413.3_Missense_Mutation_p.S785F|PTPRF_ENST00000422171.2_Missense_Mutation_p.S142F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.S785F|PTPRF_ENST00000372414.3_Missense_Mutation_p.S794F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	794	Fibronectin type-III 5.				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)				ACCACCTACTCCGTTACTGTT	0.582000													21	34					0	0	0.002780	0	0
SCAND3	114821	broad.mit.edu	37	6	28554492	28554492	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:28554492C>T	ENST00000452236.2	-	1	620	c.3G>A	c.(1-3)atG>atA	p.M1I	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AGACTGCTTCCATCCCGAGCT	0.488000													16	40					0	0	0.004990	0	0
FOXM1	2305	broad.mit.edu	37	12	2968099	2968099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2968099C>T	ENST00000342628.2	-	10	2224	c.2111G>A	c.(2110-2112)aGt>aAt	p.S704N	FOXM1_ENST00000361953.3_Missense_Mutation_p.S651N|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.S666N	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	666					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGGGGAGCACTTTGCAAGGG	0.577000													21	38					0	0	0.001216	0	0
MGAM	8972	broad.mit.edu	37	7	141736637	141736637	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:141736637C>T	ENST00000475668.2	+	18	2145	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A	MGAM_ENST00000549489.2_Silent_p.A697A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	697	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGATCCTGCCTCCTTTGGAG	0.502000													54	122					0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:22156665G>A	ENST00000397126.4	-	4	1319	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378000													5	20					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32053659	32053659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32053659C>T	ENST00000375244.3	-	7	3217	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1006K			P22105	TENX_HUMAN	tenascin XB	1093	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCAGCACTTCCTCATGTGCC	0.677000													107	268					0	0	0.003610	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080515	70080515	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70080515G>A	ENST00000505646.1	+	0	679																											AATCAATCAAGTTAAAATATA	0.343000													16	52					0	0	0.003163	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273348	145273348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:145273348C>T	ENST00000369340.3	+	4	646	c.202C>T	c.(202-204)Cat>Tat	p.H68Y	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.H68Y|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.H68Y|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.H68Y			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	68	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTCGACATCTCATCCATGCTT	0.557000													94	1346					0	0	0.003610	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048124	55048124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55048124G>A	ENST00000335056.3	+	5	729	c.691G>A	c.(691-693)Gac>Aac	p.D231N	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CACCCAGGTGGACCCCATGAT	0.473000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	32					0	0	0.000602	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208499	104208499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:104208499C>T	ENST00000202556.9	-	11	1732	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	484	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AAGCTGCCTTCCTTCCTCCTT	0.642000													16	48					0	0	0.006122	0	0
UBR2	23304	broad.mit.edu	37	6	42613322	42613322	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42613322T>G	ENST00000372899.1	+	21	2661	c.2403T>G	c.(2401-2403)ccT>ccG	p.P801P	UBR2_ENST00000372883.3_Silent_p.P305P|UBR2_ENST00000372901.1_Silent_p.P801P	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	801					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)			AGTCTTTACCTGAAGATGTAA	0.363000													28	64					0	0	0.001512	0	0
USP36	57602	broad.mit.edu	37	17	76799751	76799751	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76799751C>T	ENST00000312010.6	-	16	2850	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	USP36_ENST00000542802.2_Silent_p.G842G|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	842					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			tcttcctcttcCCGTGGGGAG	0.632000													6	12					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40713329	40713329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:40713329G>A	ENST00000373198.3	-	30	4430	c.4195C>T	c.(4195-4197)Cac>Tac	p.H1399Y	PTPRT_ENST00000373193.3_Missense_Mutation_p.H1380Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1387Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.H1376Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1386Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.H1377Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1367Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1377	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)				CACAGGCAGTGGACCACAGTA	0.607000													5	16					0	0	0.000602	0	0
NLRP3	114548	broad.mit.edu	37	1	247588870	247588870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247588870C>T	ENST00000366497.2	+	4	2905	c.2125C>T	c.(2125-2127)Cca>Tca	p.P709S	NLRP3_ENST00000391827.2_Missense_Mutation_p.P709S|NLRP3_ENST00000366496.2_Missense_Mutation_p.P709S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P709S|NLRP3_ENST00000336119.3_Missense_Mutation_p.P709S|NLRP3_ENST00000348069.2_Missense_Mutation_p.P709S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	709					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)			GTGTGTCCTCCCAAGCTCCTC	0.562000													16	24					0	0	0.007413	0	0
TEX19	400629	broad.mit.edu	37	17	80320388	80320388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:80320388C>T	ENST00000333437.4	+	2	672	c.362C>T	c.(361-363)cCc>cTc	p.P121L		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	121						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CACTTTGTCCCCACTGAACTA	0.637000													25	50					0	0	0.007291	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148709325	148709325	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:148709325T>C	ENST00000296721.4	+	16	2005	c.1907T>C	c.(1906-1908)aTt>aCt	p.I636T	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.I636T	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	636							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGACGATTCGGACAGAG	0.522000													13	18					0	0	0.002450	0	0
OR4A47	403253	broad.mit.edu	37	11	48510616	48510616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:48510616C>T	ENST00000446524.1	+	1	348	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AATTCCATATCCTTCCAATCT	0.423000													36	88					0	0	0.006999	0	0
PGA5	5222	broad.mit.edu	37	11	61018705	61018705	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61018705C>T	ENST00000312403.5	+	9	1304	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PGA5_ENST00000451616.2_Silent_p.T219T|PGA5_ENST00000541528.1_Silent_p.T113T|PGA4_ENST00000422676.2_Silent_p.T373T	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	373					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						AGTACTTTACCGTCTTCGACA	0.587000													57	101					0	0	0.003610	0	0
C1orf172	126695	broad.mit.edu	37	1	27278511	27278511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278511C>T	ENST00000320567.5	-	2	449	c.361G>A	c.(361-363)Ggg>Agg	p.G121R		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	121										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCAGTCCCCTCAGTGGAG	0.672000													10	7					0	0	0.000978	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136643	46136643	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46136643C>T	ENST00000362042.3	+	6	2575	c.1959C>T	c.(1957-1959)agC>agT	p.S653S	NFE2L1_ENST00000585291.1_Silent_p.S623S|NFE2L1_ENST00000536222.1_Silent_p.S497S|NFE2L1_ENST00000583378.1_Silent_p.S454S|NFE2L1_ENST00000582155.1_Silent_p.S465S|NFE2L1_ENST00000357480.5_Silent_p.S623S|NFE2L1_ENST00000361665.3_Silent_p.S642S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	653					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCAGCTGAGCCTCATCCGAG	0.547000													16	24					0	0	0.004007	0	0
MBL2	4153	broad.mit.edu	37	10	54531391	54531391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:54531391G>A	ENST00000373968.3	-	1	69	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502000													5	7					0	0	0.000602	0	0
ZNF354A	6940	broad.mit.edu	37	5	178140387	178140387	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:178140387C>T	ENST00000335815.2	-	5	689	c.492G>A	c.(490-492)ttG>ttA	p.L164L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	164					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AGTTTTGGCTCAATTCAGTAT	0.378000													65	174					0	0	0.003610	0	0
CNGB3	54714	broad.mit.edu	37	8	87616323	87616323	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87616323G>A	ENST00000320005.5	-	15	1826	c.1779C>T	c.(1777-1779)atC>atT	p.I593I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	593					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAGATACCTGATTTCTCCAA	0.373000													9	23					0	0	0.006214	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458636	45458636	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458636G>A	ENST00000548424.1	+	0	448																											CCAAAGAAGAGTCGCAATCCA	0.438000													6	18					0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883935	228883935	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228883935C>A	ENST00000392056.3	-	7	1681	c.1635G>T	c.(1633-1635)aaG>aaT	p.K545N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K545N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	545						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)		TGGAAGGTTCCTTGAGTCCTT	0.537000													21	54					3.83957e-06	5.9868e-06	0.002780	1	0
FAM129B	64855	broad.mit.edu	37	9	130279140	130279140	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130279140G>A	ENST00000373312.3	-	8	1182	c.969C>T	c.(967-969)atC>atT	p.I323I	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.I310I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	323							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTACCTCGGATCTTGCTGG	0.547000													91	275					0	0	0.003610	0	0
ZNF708	7562	broad.mit.edu	37	19	21476932	21476932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21476932G>A	ENST00000356929.3	-	4	1033	c.836C>T	c.(835-837)cCc>cTc	p.P279L		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTTGTAGGGTTTCTCTCC	0.373000													6	16					0	0	0.001168	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188692	140188692	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140188692G>A	ENST00000530339.1	+	1	1920	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.T640T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T640T	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)			TGGACGAAACGGACGCTCCGC	0.672000													20	47					0	0	0.001523	0	0
IL1RL2	8808	broad.mit.edu	37	2	102849574	102849574	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102849574C>T	ENST00000264257.2	+	10	1413	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.F311F|IL1RL2_ENST00000539491.1_Silent_p.F429F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	429	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GAGATGAATTCCCTGGACAAG	0.468000													12	30					0	0	0.002450	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167509	140167509	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140167509G>A	ENST00000458420.3	+	6	1126	c.936G>A	c.(934-936)cgG>cgA	p.R312R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	312					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTTGTGACCGGGAGACCTACT	0.443000										HNSCC(16;0.037)			41	99					0	0	0.002522	0	0
AHNAK	79026	broad.mit.edu	37	11	62290874	62290874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62290874G>A	ENST00000378024.4	-	5	11289	c.11015C>T	c.(11014-11016)tCc>tTc	p.S3672F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3672					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)				GTCAGGCATGGAGATCTTGGG	0.488000													70	170					0	0	0.003610	0	0
ITGA8	8516	broad.mit.edu	37	10	15590465	15590465	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15590465T>C	ENST00000378076.3	-	27	3222	c.2869A>G	c.(2869-2871)Acc>Gcc	p.T957A		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	957					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGAGGAAGGTGTGGGCCCAT	0.473000													15	39					0	0	0.003163	0	0
DGCR6	8214	broad.mit.edu	37	22	18899146	18899146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:18899146C>T	ENST00000331444.6	+	5	759	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DGCR6_ENST00000413981.1_Missense_Mutation_p.P67S|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	203					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GCTAGGAGGTCCCTGGCAGTT	0.607000													4	13					0	0	0.000248	0	0
BEST3	144453	broad.mit.edu	37	12	70049395	70049395	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70049395C>T	ENST00000330891.5	-	10	1525	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	BEST3_ENST00000553096.1_Silent_p.R327R|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.R220R	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	433						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)			CCAGTAGGTCCCTGGCTGGGC	0.597000													30	59					0	0	0.002836	0	0
ATP1A4	480	broad.mit.edu	37	1	160156065	160156065	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160156065G>A	ENST00000368081.4	+	21	3440		c.e21-1		ATP1A4_ENST00000470705.1_Splice_Site	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						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)			GCTCTCTACAGGATAACCTGG	0.512000													67	157					0	0	0.003610	0	0
OR5M3	219482	broad.mit.edu	37	11	56237116	56237116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56237116C>T	ENST00000312240.2	-	1	898	c.858G>A	c.(856-858)atG>atA	p.M286I		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GACTGTAGATCATGGGATTCA	0.403000													9	16					0	0	0.001216	0	0
CRYGN	155051	broad.mit.edu	37	7	151133364	151133364	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151133364C>T	ENST00000337323.2	-	3	444	c.318G>A	c.(316-318)acG>acA	p.T106T	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	106	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCACTGGCCCGTGAAGTTGC	0.547000													5	42					0	0	0.001168	0	0
VWA5A	4013	broad.mit.edu	37	11	124013187	124013187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124013187C>T	ENST00000456829.2	+	17	2313	c.2062C>T	c.(2062-2064)Caa>Taa	p.Q688*	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Nonsense_Mutation_p.Q688*	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	688										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						GATTTACCACCAAAATGCAAA	0.443000													30	53					0	0	0.002096	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985303	34985303	+	Missense_Mutation	SNP	G	G	A	rs138620347		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:34985303G>A	ENST00000360359.3	+	11	1615	c.1477G>A	c.(1477-1479)Ggg>Agg	p.G493R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	493						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGGCAGGACGGGCAGGTCCC	0.627000													22	36					0	0	0.002780	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12859201	12859201	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:12859201T>C	ENST00000379672.5	+	14	1454	c.1154T>C	c.(1153-1155)tTa>tCa	p.L385S	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.L385S|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.L385S	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	385	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATAAAATTTTTATCCAAGCTG	0.428000													11	14					0	0	0.000978	0	0
FLG2	388698	broad.mit.edu	37	1	152326459	152326459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152326459C>T	ENST00000388718.5	-	3	3875	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1268	Ser-rich.						calcium ion binding|structural molecule activity			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)			GCTAGATCTTCGTCTTCTAGT	0.458000													56	109					0	0	0.003610	0	0
OR5T1	390155	broad.mit.edu	37	11	56043277	56043277	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:56043277T>C	ENST00000313033.2	+	1	249	c.163T>C	c.(163-165)Tta>Cta	p.L55L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATAGGCAATTTAGGGCTGGT	0.348000													25	49					0	0	0.003954	0	0
SH3D21	79729	broad.mit.edu	37	1	36786171	36786171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:36786171C>T	ENST00000453908.2	+	14	1935	c.1907C>T	c.(1906-1908)cCt>cTt	p.P636L	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.P520L|SH3D21_ENST00000312808.4_Missense_Mutation_p.P282L|SH3D21_ENST00000505871.1_Missense_Mutation_p.P525L	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	520										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GAATTGCCCCCTAAAGAGGAA	0.577000													15	32					0	0	0.003163	0	0
CAPN13	92291	broad.mit.edu	37	2	30998846	30998846	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:30998846G>A	ENST00000295055.8	-	4	513	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	CAPN13_ENST00000534090.2_Silent_p.L113L|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	113	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGACCATCAGGATCTTCTGC	0.522000													9	42					0	0	0.000673	0	0
MLLT4	4301	broad.mit.edu	37	6	168325703	168325703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:168325703G>A	ENST00000366806.2	+	23	3152	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	MLLT4_ENST00000351017.4_Missense_Mutation_p.E1011K|MLLT4_ENST00000392112.1_Missense_Mutation_p.E988K|MLLT4_ENST00000447894.2_Missense_Mutation_p.E1004K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1003K|MLLT4_ENST00000344191.4_Missense_Mutation_p.E1004K|MLLT4_ENST00000392108.3_Missense_Mutation_p.E1004K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1004					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCTGAGGAAAGAACCTGAAAT	0.408000			T	MLL	AL								15	40					0	0	0.001216	0	0
IQCC	55721	broad.mit.edu	37	1	32673255	32673255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:32673255C>T	ENST00000537469.1	+	5	1260	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	IQCC_ENST00000291358.6_Missense_Mutation_p.P325S	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	325										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGACCAGACCCCCAGAGGTTT	0.532000													26	47					0	0	0.004656	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003911	44003911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44003911G>A	ENST00000372726.3	-	4	692	c.536C>T	c.(535-537)aCc>aTc	p.T179I	TP53TG5_ENST00000537995.1_Missense_Mutation_p.T163I|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	179					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						GGGGCCCTCGGTGAGTGGTTG	0.552000													29	92					0	0	0.007291	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960867	51960867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960867G>A	ENST00000321424.3	-	2	647	c.581C>T	c.(580-582)gCc>gTc	p.A194V	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	194	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGACACGGAGGCCCCAATCCA	0.652000													10	35					0	0	0.000673	0	0
SERPINB10	5273	broad.mit.edu	37	18	61587116	61587116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61587116C>T	ENST00000238508.3	+	5	526	c.467C>T	c.(466-468)tCt>tTt	p.S156F		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GACATCAACTCTTGGGTTGAA	0.388000													21	41					0	0	0.002299	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622265	18622265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:18622265G>A	ENST00000380548.4	+	5	838	c.499G>A	c.(499-501)Gga>Aga	p.G167R	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G167R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G167R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G167R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.G167R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	167						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACCAGCTGGGAAGCACCGT	0.517000													24	18					0	0	0.005443	0	0
DNAH10	196385	broad.mit.edu	37	12	124305290	124305290	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:124305290C>T	ENST00000409039.3	+	23	3835	c.3810C>T	c.(3808-3810)ctC>ctT	p.L1270L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1270	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTACGAGCTCTATGAAGGAC	0.473000													39	65					0	0	0.006230	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927578	10927578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10927578G>A	ENST00000283141.6	+	17	1714	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	473						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CCTGTtattggggaacctgcc	0.433000													6	12					0	0	0.001984	0	0
CCDC6	8030	broad.mit.edu	37	10	61574451	61574451	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61574451A>T	ENST00000263102.6	-	4	876	c.645T>A	c.(643-645)aaT>aaA	p.N215K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	215	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCCAGAGGCGATTAACTAGTG	0.428000			T	RET	NSCLC								24	69					0	0	0.007291	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517946	72517946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72517946C>T	ENST00000373208.1	+	21	3092	c.3092C>T	c.(3091-3093)tCc>tTc	p.S1031F	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S1028F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1028					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CACCAGAACTCCACGGTGAGG	0.542000													14	20					0	0	0.006122	0	0
LRRC42	115353	broad.mit.edu	37	1	54417990	54417990	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54417990C>T	ENST00000371370.3	+	3	839	c.318C>T	c.(316-318)tcC>tcT	p.S106S	LRRC42_ENST00000319223.4_Silent_p.S106S	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	106										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACATTGATTCCCTTATTGGCT	0.502000													18	67					0	0	0.001882	0	0
BARHL2	343472	broad.mit.edu	37	1	91182155	91182155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:91182155C>T	ENST00000370445.4	-	1	639	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	200						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCTGGGAATCCTCCCGCTTG	0.612000													27	42					0	0	0.002096	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572894	32572894	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32572894G>A	ENST00000379847.3	-	1	266	c.165C>T	c.(163-165)tcC>tcT	p.S55S	NDUFB6_ENST00000350021.2_Silent_p.S55S	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TCCTCCAAGGGGATTTATTCT	0.577000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	68					0	0	0.003954	0	0
ABCA6	23460	broad.mit.edu	37	17	67080473	67080473	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67080473C>T	ENST00000284425.2	-	34	4458	c.4284G>A	c.(4282-4284)ctG>ctA	p.L1428L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1428	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GTGAGTTTCCCAGGAGGCTCA	0.527000													28	41					0	0	0.004656	0	0
THBS2	7058	broad.mit.edu	37	6	169632808	169632808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:169632808C>T	ENST00000366787.3	-	13	2132	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	628	EGF-like 2; calcium-binding (Potential).				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)		GGGCTGGTTCCCTCTGTATCG	0.622000													12	46					0	0	0.001855	0	0
NUTM2A	728118	broad.mit.edu	37	10	88988218	88988218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88988218G>A	ENST00000381689.4	+	2	912	c.581G>A	c.(580-582)gGc>gAc	p.G194D	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.G194D					NUT family member 2A																		GATGGCTGCGGCCCGAGTGGG	0.662000													11	67					0	0	0.007413	0	0
SCN4A	6329	broad.mit.edu	37	17	62034642	62034642	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62034642G>A	ENST00000435607.1	-	13	2332	c.2256C>T	c.(2254-2256)ctC>ctT	p.L752L	SCN4A_ENST00000578147.1_Silent_p.L752L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	752					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGAAGACGATGAGGAAGGAGT	0.577000													8	28					0	0	0.003080	0	0
FSIP2	401024	broad.mit.edu	37	2	186670004	186670004	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:186670004A>G	ENST00000343098.5	+	17	16238	c.16238A>G	c.(16237-16239)aAg>aGg	p.K5413R	FSIP2_ENST00000424728.1_Missense_Mutation_p.K5324R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGGGAATTTAAGAAAAGTGAT	0.294000													26	100					0	0	0.003330	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	T	rs147405090		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98509802C>T	ENST00000359863.4	+	18	2374	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722F|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000													26	74					0	0	0.006320	0	0
OR8A1	390275	broad.mit.edu	37	11	124440091	124440091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124440091C>T	ENST00000284287.3	+	1	199	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P43T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CCTCCAGCTCCCCCTCTTTCT	0.532000													29	51					0	0	0.002445	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243296	38243296	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:38243296T>G	ENST00000319669.4	+	11	830	c.728T>G	c.(727-729)tTt>tGt	p.F243C	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	243						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGCTACATGTTTTTTCATGTA	0.408000													12	73					0	0	0.000978	0	0
MEI1	150365	broad.mit.edu	37	22	42172208	42172208	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:42172208C>T	ENST00000401548.3	+	21	2687	c.2647C>T	c.(2647-2649)Cga>Tga	p.R883*	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Nonsense_Mutation_p.R251*|MEI1_ENST00000540880.1_Nonsense_Mutation_p.R201*	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	883							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGTCTTATCCGAGGCCACTT	0.562000													20	53					0	0	0.001523	0	0
CNGB3	54714	broad.mit.edu	37	8	87683197	87683197	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:87683197G>A	ENST00000320005.5	-	4	515	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	156			S -> F (in ACHM3).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTCGGGTGAGGAGAGATCTC	0.468000													46	158					0	0	0.003610	0	0
LNPEP	4012	broad.mit.edu	37	5	96364151	96364151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:96364151C>T	ENST00000231368.5	+	18	3684	c.2992C>T	c.(2992-2994)Cgt>Tgt	p.R998C	LNPEP_ENST00000395770.3_Missense_Mutation_p.R984C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	998					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTTCCGGCTTCGTTGTGTCCA	0.448000													46	68					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166924680G>A	ENST00000061240.2	+	6	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_ENST00000513213.1_Missense_Mutation_p.R257Q|TLL1_ENST00000507499.1_Missense_Mutation_p.R257Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408000													15	25					0	0	0.004990	0	0
SEC24D	9871	broad.mit.edu	37	4	119665155	119665155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:119665155G>T	ENST00000379735.5	-	15	2257	c.1986C>A	c.(1984-1986)taC>taA	p.Y662*	SEC24D_ENST00000511481.1_Nonsense_Mutation_p.Y292*|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Nonsense_Mutation_p.Y217*|SEC24D_ENST00000280551.6_Nonsense_Mutation_p.Y661*|SEC24D_ENST00000419654.2_Nonsense_Mutation_p.Y217*	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	661					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGAAATTGTTGTATTTGTAAA	0.443000													14	22					3.27435e-08	5.11813e-08	0.002450	1	0
FAM47C	442444	broad.mit.edu	37	X	37026872	37026872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:37026872C>T	ENST00000358047.3	+	1	441	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	130										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						ACCAAGCATCCCTTGGCCATG	0.572000													25	13					0	0	0.001786	0	0
LILRA1	11024	broad.mit.edu	37	19	55106306	55106306	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55106306T>C	ENST00000453777.1	+	4	417	c.247T>C	c.(247-249)Ttc>Ctc	p.F83L	LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.F83L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	83	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAAGGGCCAGTTCCCCATCCC	0.562000													31	43					0	0	0.003271	0	0
LTBP2	4053	broad.mit.edu	37	14	75078154	75078154	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:75078154C>T	ENST00000261978.4	-	1	880	c.494_splice	c.e1+1	p.G165_splice	LTBP2_ENST00000556690.1_Splice_Site_p.G165_splice|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	165					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCATGCTCACCCCGTGAGCCG	0.731000													22	42					0	0	0.003954	0	0
LRP4	4038	broad.mit.edu	37	11	46890564	46890564	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46890564G>A	ENST00000378623.1	-	32	5054	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1604					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGAAACCACGATGATATCCA	0.547000													25	78					0	0	0.007291	0	0
SEMA4D	10507	broad.mit.edu	37	9	92008487	92008487	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:92008487G>A	ENST00000450295.1	-	7	1274	c.498C>T	c.(496-498)tcC>tcT	p.S166S	SEMA4D_ENST00000339861.4_Silent_p.S166S|SEMA4D_ENST00000438547.2_Silent_p.S166S|SEMA4D_ENST00000356444.2_Silent_p.S166S|SEMA4D_ENST00000420987.1_Silent_p.S166S|SEMA4D_ENST00000343780.4_Silent_p.S166S|SEMA4D_ENST00000455551.2_Silent_p.S166S|SEMA4D_ENST00000422704.2_Silent_p.S166S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	166	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.S166S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CAACCATGACGGATGTGTAGC	0.423000													21	48					0	0	0.002299	0	0
TAAR8	83551	broad.mit.edu	37	6	132873904	132873904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132873904C>T	ENST00000275200.1	+	1	73	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	25						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TATTGAAACTCCCTATTCTCC	0.428000													14	75					0	0	0.001855	0	0
ACTR5	79913	broad.mit.edu	37	20	37384523	37384523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:37384523G>A	ENST00000243903.4	+	5	1054	c.1017G>A	c.(1015-1017)atG>atA	p.M339I		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	339					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATGGCCAGATGGATCAGTTTC	0.488000													66	102					0	0	0.003610	0	0
CPZ	8532	broad.mit.edu	37	4	8607895	8607895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:8607895G>A	ENST00000382480.2	+	5	1278	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CPZ_ENST00000360986.4_Missense_Mutation_p.E297K|CPZ_ENST00000315782.6_Missense_Mutation_p.E286K|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	297	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			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						TGACGGCTATGAGGTGGCAGC	0.607000													5	15					0	0	0.001168	0	0
GRIK3	2899	broad.mit.edu	37	1	37267467	37267467	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37267467G>A	ENST00000373091.3	-	16	2761	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	915					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGAACACAGGGGCTAAGGATG	0.612000													21	37					0	0	0.002780	0	0
ARAP1	116985	broad.mit.edu	37	11	72425353	72425353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:72425353C>T	ENST00000359373.5	-	4	1374	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.E175K|ARAP1_ENST00000393609.3_Missense_Mutation_p.E175K			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	175					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GACTCCTCCTCCTTAGTGGGC	0.587000													49	96					0	0	0.003610	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638023	65638023	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65638023G>A	ENST00000307998.6	-	5	704	c.474C>T	c.(472-474)atC>atT	p.I158I	EFEMP2_ENST00000528176.1_Silent_p.I158I	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	158	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCGGGCCCGATCTTGCGGT	0.622000													7	15					0	0	0.003080	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140222729C>T	ENST00000531613.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S608L	NM_018911.2	NP_061734.1												p.S608L(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.682000													22	44					0	0	0.002299	0	0
XRCC1	7515	broad.mit.edu	37	19	44058894	44058894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44058894G>A	ENST00000594374.1	-	3	342	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000262887.5_Silent_p.N106N|XRCC1_ENST00000543982.1_Silent_p.N75N																							TGCGAACGCGGTTGGGGTTTG	0.602000													37	86					0	0	0.006999	0	0
MLLT6	4302	broad.mit.edu	37	17	36872948	36872948	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36872948T>G	ENST00000325718.7	+	10	1456	c.1365T>G	c.(1363-1365)gcT>gcG	p.A455A	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	455					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTGTGCCTGCTGATGAGACCC	0.652000			T	MLL	AL								5	10					0	0	0.001168	0	0
TRPM5	29850	broad.mit.edu	37	11	2441525	2441525	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441525C>T	ENST00000452833.1	-	4	590	c.582G>A	c.(580-582)ggG>ggA	p.G194G	TRPM5_ENST00000528453.1_Silent_p.G192G|TRPM5_ENST00000155858.6_Silent_p.G192G|TRPM5_ENST00000533060.1_Silent_p.G192G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	192						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CATCGCCCTTCCCCGGGGGGC	0.687000													72	156					0	0	0.003610	0	0
GFRAL	389400	broad.mit.edu	37	6	55196520	55196520	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55196520G>A	ENST00000340465.2	+	2	116	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	10						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)			AAGCTATGGGGTTAAGCTTGG	0.323000													12	37					0	0	0.002450	0	0
SLX4IP	128710	broad.mit.edu	37	20	10603735	10603735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10603735C>T	ENST00000334534.5	+	8	1115	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_001009608.1	NP_001009608.1			SLX4 interacting protein									p.S312Y(1)									GGGAGAGTTTCTCTTGGAAGT	0.483000													58	94					0	0	0.003610	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764100	140764100	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140764100A>G	ENST00000518325.1	+	1	1634	c.1634A>G	c.(1633-1635)aAc>aGc	p.N545S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAGCAACATGTCACTG	0.562000													13	32					0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34383744	34383744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34383744C>T	ENST00000373381.4	-	5	1047	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	251	CUB 2.					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)				TCGTAACCATCCTCCAGCTGG	0.527000													12	19					0	0	0.001855	0	0
GDA	9615	broad.mit.edu	37	9	74856215	74856215	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74856215G>A	ENST00000358399.3	+	11	1228		c.e11+1		GDA_ENST00000376986.1_Splice_Site|GDA_ENST00000376989.3_Splice_Site|GDA_ENST00000238018.4_Splice_Site|GDA_ENST00000545168.1_Splice_Site	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase						nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAAGCCAAGGTAATGACTCT	0.378000													10	33					0	0	0.000673	0	0
PSMD1	5707	broad.mit.edu	37	2	232030645	232030645	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:232030645T>G	ENST00000308696.6	+	23	2791	c.2629T>G	c.(2629-2631)Tta>Gta	p.L877V	PSMD1_ENST00000409643.1_Missense_Mutation_p.L846V|PSMD1_ENST00000373635.4_Missense_Mutation_p.L846V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	877					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAACTTCCAGTTATTGGATAA	0.408000													38	55					0	0	0.004289	0	0
IGLON5	402665	broad.mit.edu	37	19	51828705	51828705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51828705G>A	ENST00000270642.8	+	4	497	c.497G>A	c.(496-498)tGg>tAg	p.W166*		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	166	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						ACGGTCACCTGGAGACAGCTC	0.637000													4	14					0	0	0.000248	0	0
UBR5	51366	broad.mit.edu	37	8	103311161	103311161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:103311161G>A	ENST00000520539.1	-	25	3847	c.3241C>T	c.(3241-3243)Cga>Tga	p.R1081*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.R1075*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R1081*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1081					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCGCCTTTCGATCCTTGGAT	0.378000													16	42					0	0	0.006122	0	0
C7orf43	55262	broad.mit.edu	37	7	99755306	99755306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99755306C>T	ENST00000316937.3	-	3	772	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	C7orf43_ENST00000419841.1_5'UTR|C7orf43_ENST00000457641.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	196										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGGAGATCGGGTCTGCAG	0.577000											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	93					0	0	0.006320	0	0
OR51E2	81285	broad.mit.edu	37	11	4703274	4703274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:4703274G>A	ENST00000396950.3	-	2	907	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGCAGAACCGTTCGTATTAT	0.493000													19	53					0	0	0.001216	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617513	77617513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77617513G>A	ENST00000521891.2	+	2	1638	c.1190G>A	c.(1189-1191)gGg>gAg	p.G397E	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G397E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G397E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G397E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	397						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)			CAGCCGCTGGGGATTACCCAA	0.527000										HNSCC(33;0.089)			9	21					0	0	0.004482	0	0
SAV1	60485	broad.mit.edu	37	14	51132153	51132153	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:51132153T>C	ENST00000324679.4	-	2	642	c.279A>G	c.(277-279)ttA>ttG	p.L93L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	93					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAGGTGCAGATAATCTGTTGC	0.378000													12	17					0	0	0.002450	0	0
RELN	5649	broad.mit.edu	37	7	103124178	103124178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103124178C>T	ENST00000428762.1	-	62	10262	c.10103G>A	c.(10102-10104)gGg>gAg	p.G3368E	RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.G3368E|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.G3368E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3368					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)		CCAGGTGATCCCGTTGTTGAC	0.557000													33	93					0	0	0.003271	0	0
C1orf172	126695	broad.mit.edu	37	1	27278778	27278778	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278778T>C	ENST00000320567.5	-	2	182	c.94A>G	c.(94-96)Aaa>Gaa	p.K32E		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	32	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGAGGTGGTTTATCATATGTC	0.637000													14	45					0	0	0.003163	0	0
CD48	962	broad.mit.edu	37	1	160648891	160648891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160648891C>T	ENST00000368046.3	-	4	770	c.683G>A	c.(682-684)aGt>aAt	p.S228N	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	228					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CACTAGCCAACTTGCAATCCA	0.453000													31	59					0	0	0.003271	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018175	1018175	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:1018175C>T	ENST00000398484.2	+	7	1375	c.795C>T	c.(793-795)tcC>tcT	p.S265S	FGFRL1_ENST00000510644.1_Silent_p.S265S|FGFRL1_ENST00000504138.1_Silent_p.S265S|FGFRL1_ENST00000264748.6_Silent_p.S265S			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	265	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGACCACGTCCTTCCAGTGCA	0.672000													27	45					0	0	0.002445	0	0
ACD	65057	broad.mit.edu	37	16	67692482	67692482	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:67692482G>T	ENST00000219251.8	-	9	1385	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T	ACD_ENST00000393919.4_Missense_Mutation_p.P355T	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	355					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAAGGAGGAGAGGCTATG	0.612000													12	33					2.61681e-11	4.1063e-11	0.002450	1	0
OR2F2	135948	broad.mit.edu	37	7	143632869	143632869	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143632869C>T	ENST00000408955.2	+	1	611	c.544C>T	c.(544-546)Cta>Tta	p.L182L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CTGTGAACTCCTAGCTGTGGT	0.498000													15	44					0	0	0.004007	0	0
LRIG1	26018	broad.mit.edu	37	3	66460624	66460624	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:66460624G>A	ENST00000383703.3	-	7	1467	c.864C>T	c.(862-864)ctC>ctT	p.L288L	LRIG1_ENST00000273261.3_Silent_p.L288L			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	288						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGCTGAGGTGGAGCTGATGCA	0.577000													138	93					0	0	0.003610	0	0
BRIP1	83990	broad.mit.edu	37	17	59857760	59857760	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:59857760G>A	ENST00000259008.2	-	13	2064	c.1797C>T	c.(1795-1797)gcC>gcT	p.A599A	BRIP1_ENST00000577598.1_Silent_p.A599A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	599					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TATCTGAAAAGGCCTAAAAGA	0.373000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					45	68					0	0	0.003610	0	0
BCL9	607	broad.mit.edu	37	1	147095669	147095669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:147095669C>T	ENST00000234739.3	+	10	3930	c.3190C>T	c.(3190-3192)Cga>Tga	p.R1064*		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1064	Pro-rich.				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)					ACAGAATCCTCGAATTTCAGG	0.403000			T	"""IGH@, IGL@"""	B-ALL								57	106					0	0	0.003610	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:28509498C>T	ENST00000564831.1	+	3	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C|APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000													5	5					0	0	0.000602	0	0
LILRA5	353514	broad.mit.edu	37	19	54823372	54823372	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54823372G>A	ENST00000301219.3	-	4	290	c.171C>T	c.(169-171)atC>atT	p.I57I	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.I45I|LILRA5_ENST00000346508.3_Silent_p.I45I|LILRA5_ENST00000432233.3_Silent_p.I57I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	57	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCCCGGCTGATCACAGAGC	0.607000													8	56					0	0	0.004482	0	0
PRR11	55771	broad.mit.edu	37	17	57262831	57262831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57262831C>T	ENST00000262293.4	+	4	622	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	104										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CACCATCTTTCCATCTCGTAT	0.353000													15	54					0	0	0.004990	0	0
FARSA	2193	broad.mit.edu	37	19	13041110	13041110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13041110G>A	ENST00000588025.1	-	5	690	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	FARSA_ENST00000423140.2_Missense_Mutation_p.R144W|FARSA_ENST00000314606.4_Missense_Mutation_p.R144W			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R144W(1)|p.R144R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TGTCCCCCCCGGACCAGCTGG	0.652000													12	24					0	0	0.002450	0	0
C6orf58	352999	broad.mit.edu	37	6	127912715	127912715	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:127912715T>G	ENST00000329722.7	+	6	953	c.941T>G	c.(940-942)gTa>gGa	p.V314G		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	314						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAATCTAATGTATATAGAGAT	0.274000													8	32					0	0	0.006214	0	0
SPTA1	6708	broad.mit.edu	37	1	158612323	158612323	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:158612323G>A	ENST00000368148.3	-	33	4795	c.4615C>T	c.(4615-4617)Ctg>Ttg	p.L1539L	SPTA1_ENST00000368147.3_Silent_p.L1539L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1539					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)					TGGTGTTTCAGGTATTTCCTC	0.398000													26	45					0	0	0.007291	0	0
KIF12	113220	broad.mit.edu	37	9	116856469	116856469	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116856469C>T	ENST00000374118.3	-	10	1128	c.891G>A	c.(889-891)gaG>gaA	p.E297E	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	430					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACCTGAGCCTCTCATTCTCTA	0.642000													12	46					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139149481	139149481	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139149481G>A	ENST00000395297.1	-	19	4094	c.3924C>T	c.(3922-3924)gtC>gtT	p.V1308V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1308										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAACCAGCACGACGTTTTTAA	0.423000										HNSCC(54;0.14)			36	73					0	0	0.006230	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859817	144859817	+	Silent	SNP	G	G	A	rs72063878		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144859817G>A	ENST00000369359.4	-	41	6713	c.6675C>T	c.(6673-6675)tcC>tcT	p.S2225S	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S1983S|PDE4DIP_ENST00000369354.3_Silent_p.S2089S|PDE4DIP_ENST00000369356.4_Silent_p.S2089S|PDE4DIP_ENST00000530740.1_Silent_p.S2174S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2089					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGGTTAATGGAGGAGGGGC	0.582000			T	PDGFRB	MPD								9	73					0	0	0.000673	0	0
BCO2	83875	broad.mit.edu	37	11	112086944	112086944	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:112086944T>C	ENST00000357685.5	+	11	1652	c.1515_splice	c.e11-1	p.V506_splice	BCO2_ENST00000438022.1_Splice_Site_p.V472_splice|BCO2_ENST00000532593.1_Splice_Site_p.V401_splice|BCO2_ENST00000526088.1_Splice_Site_p.V466_splice|BCO2_ENST00000393032.2_Splice_Site_p.V472_splice|BCO2_ENST00000531169.1_Splice_Site_p.V472_splice|BCO2_ENST00000361053.4_Splice_Site_p.V433_splice			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	506					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GACTTGCAGGTTTGGAGAGAA	0.423000													28	68					0	0	0.001786	0	0
PDZD2	23037	broad.mit.edu	37	5	31983537	31983537	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:31983537G>A	ENST00000438447.1	+	3	1141	c.753G>A	c.(751-753)gaG>gaA	p.E251E	PDZD2_ENST00000282493.3_Silent_p.E251E			O15018	PDZD2_HUMAN	PDZ domain containing 2	251					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						CTGAGCTGGAGAACGGCCCTG	0.577000													13	42					0	0	0.002450	0	0
CWH43	80157	broad.mit.edu	37	4	49005959	49005959	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:49005959A>G	ENST00000226432.4	+	7	1193	c.1010A>G	c.(1009-1011)aAg>aGg	p.K337R	CWH43_ENST00000513409.1_Missense_Mutation_p.K310R	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	337					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACAGCTTTTAAGTTTGTCCCA	0.388000													6	30					0	0	0.001984	0	0
ZNF445	353274	broad.mit.edu	37	3	44488591	44488591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:44488591G>A	ENST00000425708.2	-	7	2913	c.2572C>T	c.(2572-2574)Cat>Tat	p.H858Y	ZNF445_ENST00000396077.2_Missense_Mutation_p.H858Y			P59923	ZN445_HUMAN	zinc finger protein 445	858					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)		ATTCCCTTATGATCTAAAAGG	0.393000													50	104					0	0	0.003610	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999436	46999436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:46999436G>A	ENST00000374314.4	+	1	1511	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A186T			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	186										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TTCTAACTCAGCCTGGATGCT	0.632000													5	30					0	0	0.001984	0	0
ZNF300	91975	broad.mit.edu	37	5	150282705	150282705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150282705G>A	ENST00000427179.1	-	3	239	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	ZNF300_ENST00000446148.2_Nonsense_Mutation_p.Q21*|ZNF300_ENST00000274599.5_Nonsense_Mutation_p.Q5*|ZNF300_ENST00000394226.2_Nonsense_Mutation_p.Q5*|ZNF300_ENST00000418587.2_Intron			Q96RE9	ZN300_HUMAN	zinc finger protein 300	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACTCACCTGGGACTTCATC	0.343000													8	51					0	0	0.000673	0	0
RP1L1	94137	broad.mit.edu	37	8	10470221	10470221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10470221C>A	ENST00000382483.3	-	4	1610	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	463					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)		TCCGAGCCCTCGGGGAGGCCG	0.716000													16	39					1.15919e-05	1.80681e-05	0.001216	1	0
EPHA6	285220	broad.mit.edu	37	3	97251309	97251309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97251309G>A	ENST00000389672.5	+	11	2346	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	EPHA6_ENST00000442602.2_Missense_Mutation_p.D136N|EPHA6_ENST00000514100.1_Missense_Mutation_p.D162N|EPHA6_ENST00000502694.1_Missense_Mutation_p.D162N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	675	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCAAAGAAGAGATTTTCTAAG	0.438000													22	57					0	0	0.001882	0	0
ADH6	130	broad.mit.edu	37	4	100129951	100129951	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100129951C>T	ENST00000394897.1	-	6	784	c.702G>A	c.(700-702)caG>caA	p.Q234Q	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Silent_p.Q25Q|ADH6_ENST00000394899.2_Silent_p.Q234Q|ADH6_ENST00000237653.7_Silent_p.Q234Q			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	234					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CACCCAATTCCTGTGCCTTCT	0.453000													91	221					0	0	0.003610	0	0
PPL	5493	broad.mit.edu	37	16	4934162	4934162	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4934162C>T	ENST00000345988.2	-	22	4583	c.4494G>A	c.(4492-4494)aaG>aaA	p.K1498K	PPL_ENST00000590782.2_Silent_p.K1496K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1498					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGAGCACCACCTTCTCCTTGA	0.642000													15	44					0	0	0.002450	0	0
NTRK2	4915	broad.mit.edu	37	9	87339159	87339159	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:87339159G>A	ENST00000304053.6	+	8	1224	c.741G>A	c.(739-741)caG>caA	p.Q247Q	NTRK2_ENST00000395882.1_Silent_p.Q247Q|NTRK2_ENST00000376214.1_Silent_p.Q247Q|NTRK2_ENST00000277120.3_Silent_p.Q247Q|NTRK2_ENST00000359847.3_Silent_p.Q247Q|NTRK2_ENST00000376213.1_Silent_p.Q247Q|NTRK2_ENST00000395866.2_Silent_p.Q91Q|NTRK2_ENST00000376208.1_Silent_p.Q247Q|NTRK2_ENST00000323115.4_Silent_p.Q247Q	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	247	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GCCACACACAGGGCTCCTTAA	0.403000										TSP Lung(25;0.17)			19	68					0	0	0.001216	0	0
PNMA1	9240	broad.mit.edu	37	14	74179835	74179835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:74179835G>A	ENST00000316836.3	-	1	1293	c.508C>T	c.(508-510)Cca>Tca	p.P170S		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	170					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ccaggccctgggatgtccctc	0.502000													19	43					0	0	0.001216	0	0
GLUL	2752	broad.mit.edu	37	1	182353819	182353819	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:182353819G>A	ENST00000311223.5	-	8	1739	c.843C>T	c.(841-843)caC>caT	p.H281H	GLUL_ENST00000417584.2_Silent_p.H281H|GLUL_ENST00000331872.6_Silent_p.H281H|GLUL_ENST00000339526.4_Silent_p.H281H|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	281					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TGTGGTACTGGTGCCGCTTGC	0.498000													49	68					0	0	0.003610	0	0
PDE11A	50940	broad.mit.edu	37	2	178769883	178769883	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178769883A>G	ENST00000286063.5	-	3	1420	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	PDE11A_ENST00000449286.2_Missense_Mutation_p.I10T|PDE11A_ENST00000358450.4_Missense_Mutation_p.I118T|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.I10T	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	368	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AGATATGGCGATTCCACAAAA	0.368000									Primary Pigmented Nodular Adrenocortical Disease, Familial				18	44					0	0	0.006122	0	0
STAB1	23166	broad.mit.edu	37	3	52538152	52538152	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52538152G>A	ENST00000321725.6	+	10	1207	c.1131G>A	c.(1129-1131)agG>agA	p.R377R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	377	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGCAGCTGAGGGTCGCCGTGG	0.682000													6	2					0	0	0.003080	0	0
MYT1L	23040	broad.mit.edu	37	2	1926536	1926536	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:1926536G>A	ENST00000399161.2	-	10	1752	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	MYT1L_ENST00000428368.2_Silent_p.F335F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	335					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCCAGGTCGAAGCACTGAT	0.562000													22	26					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13781029	13781029	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13781029G>A	ENST00000265104.4	-	53	8964	c.8860C>T	c.(8860-8862)Ctg>Ttg	p.L2954L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2954	AAA 4 (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)					ACCCCGACCAGGAGGGCATTT	0.463000									Kartagener syndrome				12	31					0	0	0.002450	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879232	3879232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:3879232C>T	ENST00000315677.3	-	4	1432	c.837G>A	c.(835-837)tgG>tgA	p.W279*	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.W279*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.W279*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.W279*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	279					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCGTGGAGGACCAGGCGCTCT	0.642000													16	29					0	0	0.004990	0	0
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:85100875G>A	ENST00000566428.1	+	2	829	c.198G>A	c.(196-198)tgG>tgA	p.W66*	KIAA0513_ENST00000538274.1_Nonsense_Mutation_p.W66*|KIAA0513_ENST00000258180.3_Nonsense_Mutation_p.W66*|KIAA0513_ENST00000567328.1_Nonsense_Mutation_p.W66*			O60268	K0513_HUMAN	KIAA0513	66						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617000													5	16					0	0	0.001168	0	0
LHX9	56956	broad.mit.edu	37	1	197896838	197896838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:197896838C>T	ENST00000367390.3	+	5	851	c.824C>T	c.(823-825)tCc>tTc	p.S275F	LHX9_ENST00000367391.1_Missense_Mutation_p.S275F|LHX9_ENST00000337020.2_Missense_Mutation_p.S284F|LHX9_ENST00000561173.1_Missense_Mutation_p.S290F|LHX9_ENST00000367387.4_Missense_Mutation_p.S284F	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	284					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						ACCATGAAATCCTACTTTGCC	0.532000													21	61					0	0	0.001882	0	0
ARMC5	79798	broad.mit.edu	37	16	31476283	31476283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31476283G>A	ENST00000457010.2	+	4	2640	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000412665.2_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	453							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CATGGGCCCAGAACCTCACCT	0.652000													6	17					0	0	0.001168	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461036	48461036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48461036G>A	ENST00000358536.4	-	11	2928	c.2659C>T	c.(2659-2661)Ctc>Ttc	p.L887F	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L887F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L704F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L704F	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	887					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)		CTGGACGGGAGGATGAGGGGG	0.672000													14	52					0	0	0.004990	0	0
IRF9	10379	broad.mit.edu	37	14	24621199	24621199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24621199C>T	ENST00000558468.1	+	3	553	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RNF31_ENST00000382687.3_Missense_Mutation_p.R559W|RNF31_ENST00000559275.1_Missense_Mutation_p.R559W|RNF31_ENST00000324103.6_Missense_Mutation_p.R710W																							GCCCCACAACCGGGTAAGTCC	0.592000													7	14					0	0	0.003080	0	0
OR2M2	391194	broad.mit.edu	37	1	248343914	248343914	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343914C>T	ENST00000359682.2	+	1	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			TGCTTGTTTTCCCTGTTGCAA	0.418000													37	153					0	0	0.007835	0	0
RCCD1	91433	broad.mit.edu	37	15	91503669	91503669	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:91503669C>A	ENST00000394258.2	+	6	1092	c.890C>A	c.(889-891)cCc>cAc	p.P297H	RCCD1_ENST00000555155.1_Missense_Mutation_p.P295H|RCCD1_ENST00000556618.1_Missense_Mutation_p.P297H	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	297										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			CTGGATCTCCCCATGGGCTCA	0.607000													8	293					0.00448238	0.00694989	0.004482	1	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691929	31691929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31691929G>A	ENST00000360542.3	-	1	678	c.425C>T	c.(424-426)gCc>gTc	p.A142V		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	142						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGGGCGATAGGCATTGGGCAC	0.552000													10	126					0	0	0.000978	0	0
MUC6	4588	broad.mit.edu	37	11	1018215	1018215	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1018215G>T	ENST00000421673.2	-	31	4636	c.4586C>A	c.(4585-4587)aCt>aAt	p.T1529N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1529	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAGGAAGTGTGTGAATG	0.552000													66	120					3.00472e-47	4.74701e-47	0.003610	1	0
SPTBN4	57731	broad.mit.edu	37	19	41012161	41012161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41012161G>A	ENST00000352632.3	+	13	1770	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	SPTBN4_ENST00000598249.1_Missense_Mutation_p.E562K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E562K|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E562K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E562K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	562					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTCCCGGGAGTGTGGGCA	0.647000													28	53					0	0	0.005443	0	0
CDRT1	374286	broad.mit.edu	37	17	15522746	15522746	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:15522746C>T	ENST00000395906.3	-	1	80	c.81G>A	c.(79-81)cgG>cgA	p.R27R	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	27										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TCTCACACTTCCGGCATAGAG	0.468000													91	167					0	0	0.003610	0	0
PRSS55	203074	broad.mit.edu	37	8	10388883	10388883	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10388883C>T	ENST00000328655.3	+	3	466	c.426C>T	c.(424-426)atC>atT	p.I142I	PRSS55_ENST00000522210.1_Silent_p.I142I|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	142	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCGCCAGCATCATTCTTCACA	0.512000													49	88					0	0	0.003610	0	0
GIT1	28964	broad.mit.edu	37	17	27902103	27902103	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:27902103G>A	ENST00000225394.3	-	19	2315	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	GIT1_ENST00000394869.3_Silent_p.F698F|GIT1_ENST00000581348.1_Silent_p.F675F|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Silent_p.F689F	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	689	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTACCTTTGGGAAGAGGGAGG	0.607000													12	27					0	0	0.002450	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99439606	99439606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:99439606G>A	ENST00000397899.2	-	7	1461	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_207362.2	NP_997245.2			KIAA1211-like																		CGGGCCTGCGGGGGGCGCCTC	0.756000													7	8					0	0	0.000673	0	0
STAT3	6774	broad.mit.edu	37	17	40475291	40475291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40475291G>A	ENST00000264657.5	-	19	2047	c.1735C>T	c.(1735-1737)Ctt>Ttt	p.L579F	STAT3_ENST00000389272.3_Missense_Mutation_p.L481F|STAT3_ENST00000404395.3_Missense_Mutation_p.L579F|STAT3_ENST00000588969.1_Missense_Mutation_p.L579F|STAT3_ENST00000585517.1_Missense_Mutation_p.L579F	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	579					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCGTTCCAAAGGGCCAGGATG	0.507000									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	52					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9056448	9056448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9056448G>A	ENST00000397910.4	-	3	31201	c.30998C>T	c.(30997-30999)tCc>tTc	p.S10333F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10335	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						GGTTGAAGAGGAGAATGGCAC	0.522000													29	46					0	0	0.001512	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620879	70620879	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70620879G>A	ENST00000310613.2	-	2	354	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	19					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CACAGGTCATGGGATAACCAT	0.373000													35	65					0	0	0.003271	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447243	99447243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:99447243C>T	ENST00000354829.2	+	7	699	c.596C>T	c.(595-597)cCa>cTa	p.P199L	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P199L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P199L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000342499.4_Silent_p.S61S|CYP3A43_ENST00000477658.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	199			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTCAACAATCCACAAGATCCC	0.338000													17	63					0	0	0.007413	0	0
FBLN1	2192	broad.mit.edu	37	22	45958907	45958907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:45958907C>T	ENST00000402984.3	+	16	2030	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.R605C|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	618					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGTGGTTTTCCGCATGGGCCC	0.617000													37	74					0	0	0.003755	0	0
IMPA1	3612	broad.mit.edu	37	8	82571638	82571638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82571638C>T	ENST00000256108.5	-	9	1247	c.782G>A	c.(781-783)aGg>aAg	p.R261K	IMPA1_ENST00000311489.4_3'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.R320K	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	261					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TTTAGCTATCCTTTCTGCTAA	0.358000													18	57					0	0	0.001523	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651759	84651759	+	Missense_Mutation	SNP	G	G	A	rs147808860		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84651759G>A	ENST00000286744.5	+	21	3603	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E1127K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1127						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.E1127*(1)|p.E1127K(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTGGTGGCCGAATTAGCCAA	0.547000													8	20					0	0	0.006214	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762546	130762546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:130762546C>T	ENST00000392429.1	+	2	3357	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.L327F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L327F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	327						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AATGGATTCCCTTGTGGTTCC	0.438000													14	33					0	0	0.004007	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846716	72846716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72846716C>T	ENST00000293190.5	-	5	1450	c.1304G>A	c.(1303-1305)aGg>aAg	p.R435K	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R435K	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	435					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTTGCTCTGCCTGCGGCAGGG	0.637000													17	57					0	0	0.001882	0	0
DOCK8	81704	broad.mit.edu	37	9	406929	406929	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:406929G>A	ENST00000432829.2	+	28	3502		c.e28-1		DOCK8_ENST00000382329.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGTTTCTGTAGAACTCAAGCT	0.537000													27	102					0	0	0.007291	0	0
MAPRE1	22919	broad.mit.edu	37	20	31421626	31421626	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:31421626C>T	ENST00000375571.5	+	3	364	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	75	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TCCAGAACTTCAAAATACTAC	0.383000													50	72					0	0	0.003610	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042835	47042835	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:47042835C>T	ENST00000450053.3	+	29	4730	c.4551C>T	c.(4549-4551)gcC>gcT	p.A1517A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A1333A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1517							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGGTCCTGGCCAGCCTCACCC	0.617000													14	33					0	0	0.006122	0	0
GABRR2	2570	broad.mit.edu	37	6	89967665	89967665	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:89967665G>A	ENST00000402938.3	-	9	1255	c.1122C>T	c.(1120-1122)acC>acT	p.T374T	GABRR2_ENST00000602399.1_Silent_p.T399T			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CCAGCATCATGGTTTTTGAAT	0.512000													10	26					0	0	0.001368	0	0
NAV2	89797	broad.mit.edu	37	11	19735246	19735246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:19735246C>T	ENST00000396085.1	+	1	366	c.5C>T	c.(4-6)cCg>cTg	p.P2L	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.P2L|NAV2_ENST00000349880.4_Missense_Mutation_p.P2L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGAAGATGCCGGCCATCCTG	0.736000													6	13					0	0	0.001984	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559500	44559500	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44559500G>A	ENST00000332567.4	-	1	2488	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	712					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTCAGGCAGGGGTTGGCCC	0.657000													16	34					0	0	0.004007	0	0
OR6M1	390261	broad.mit.edu	37	11	123676588	123676588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123676588G>A	ENST00000309154.2	-	1	507	c.470C>T	c.(469-471)cCa>cTa	p.P157L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TACAATGGTTGGAAACAACAC	0.488000													18	27					0	0	0.006122	0	0
C7orf49	78996	broad.mit.edu	37	7	134851454	134851454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:134851454G>A	ENST00000424142.1	-	4	820	c.218C>T	c.(217-219)cCg>cTg	p.P73L	C7orf49_ENST00000393114.3_Missense_Mutation_p.P128L|C7orf49_ENST00000430372.1_Missense_Mutation_p.P127L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000483029.2_Missense_Mutation_p.P73L	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	128						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGAACCCCCCGGCCTCTGGGA	0.597000													24	49					0	0	0.003330	0	0
RYR1	6261	broad.mit.edu	37	19	38984995	38984995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38984995C>T	ENST00000355481.4	+	39	6409	c.6278C>T	c.(6277-6279)tCc>tTc	p.S2093F	RYR1_ENST00000360985.3_Missense_Mutation_p.S2093F|RYR1_ENST00000359596.3_Missense_Mutation_p.S2093F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2093	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)	TTCCCAGGGTCCCTGCAGGAG	0.647000													12	39					0	0	0.004007	0	0
STX11	8676	broad.mit.edu	37	6	144507918	144507918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144507918C>T	ENST00000367568.4	+	2	337	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	52					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGGGACATTCAGGATGAAAA	0.612000									Familial Hemophagocytic Lymphohistiocytosis				5	15					0	0	0.000602	0	0
CAPN13	92291	broad.mit.edu	37	2	30998847	30998847	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:30998847G>A	ENST00000295055.8	-	4	512	c.336C>T	c.(334-336)atC>atT	p.I112I	CAPN13_ENST00000534090.2_Silent_p.I112I|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	112	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGACCATCAGGATCTTCTGCC	0.522000													9	41					0	0	0.000673	0	0
ZNF320	162967	broad.mit.edu	37	19	53383908	53383908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53383908G>A	ENST00000595635.1	-	8	1972	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S	ZNF320_ENST00000391781.2_Missense_Mutation_p.P491S|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAAAAGGAATTTTCTGA	0.393000													21	43					0	0	0.002299	0	0
MUC15	143662	broad.mit.edu	37	11	26584811	26584811	+	Splice_Site	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584811T>A	ENST00000436318.2	-	3	910	c.775_splice	c.e3-1	p.E259_splice	MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Splice_Site_p.E259_splice|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Splice_Site_p.E232_splice			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	232						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						TATTTCTATTTTCTACAGGAC	0.318000													11	29					0	0	0.000673	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261852	39261852	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39261852A>G	ENST00000391415.1	+	1	269	c.212A>G	c.(211-213)cAg>cGg	p.Q71R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	71	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGCTGCTGTCAGACCACCTGT	0.652000													4	17					0	0	0.000248	0	0
MUC2	4583	broad.mit.edu	37	11	1080907	1080907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1080907G>A	ENST00000441003.2	+	10	1318	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	MUC2_ENST00000359061.5_Missense_Mutation_p.E431K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	431	VWFD 2.					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)	TCTCCTGGGCGAGCTGGCCCC	0.632000													18	47					0	0	0.002780	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960483	51960483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51960483G>A	ENST00000321424.3	-	3	802	c.736C>T	c.(736-738)Cct>Tct	p.P246S	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P153S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	246	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCCAAGGAGGGTCTGGGACA	0.557000													18	30					0	0	0.001216	0	0
ZBTB7A	51341	broad.mit.edu	37	19	4055191	4055191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4055191G>A	ENST00000322357.4	-	2	318	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.P14S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	14					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGTCGGGGAACGGGATC	0.706000													3	5					0	0	0.000248	0	0
LRP1	4035	broad.mit.edu	37	12	57600439	57600439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57600439C>T	ENST00000243077.3	+	76	12240	c.11774C>T	c.(11773-11775)tCc>tTc	p.S3925F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCATCTCCTACCGCAGC	0.607000													15	34					0	0	0.006122	0	0
LOXL4	84171	broad.mit.edu	37	10	100012154	100012154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100012154C>T	ENST00000260702.3	-	12	2057	c.1907G>A	c.(1906-1908)gGg>gAg	p.G636E	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	636	Lysyl-oxidase like.					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)		GGCCTTGTGCCCCTCAGCCAC	0.542000													39	94					0	0	0.003610	0	0
CASC4	113201	broad.mit.edu	37	15	44673061	44673061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:44673061C>T	ENST00000299957.6	+	8	1258	c.959C>T	c.(958-960)cCt>cTt	p.P320L	CASC4_ENST00000345795.2_Missense_Mutation_p.P320L|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	320						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CCTTCCAGTCCTCTTCAGCGT	0.373000													11	29					0	0	0.001368	0	0
TRPC7	57113	broad.mit.edu	37	5	135692979	135692979	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:135692979A>G	ENST00000513104.1	-	2	379	c.97T>C	c.(97-99)Ttc>Ctc	p.F33L	TRPC7_ENST00000426057.2_Missense_Mutation_p.F33L|TRPC7_ENST00000355180.3_Missense_Mutation_p.F33L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	33					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)			TTCTCGTTGAACATGTAGGCG	0.612000													32	71					0	0	0.001512	0	0
YES1	7525	broad.mit.edu	37	18	747963	747963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:747963G>A	ENST00000584307.1	-	4	597	c.427C>T	c.(427-429)Ccg>Tcg	p.P143S	YES1_ENST00000577961.1_Missense_Mutation_p.P148S|YES1_ENST00000314574.4_Missense_Mutation_p.P143S			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	143	SH3.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TAATTGCTCGGGATATAACCA	0.393000													62	175					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277108	123277108	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:123277108C>T	ENST00000264501.4	+	83	14836	c.14463C>T	c.(14461-14463)tcC>tcT	p.S4821S	KIAA1109_ENST00000388738.3_Silent_p.S4821S			Q2LD37	K1109_HUMAN	KIAA1109	4821					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						ACTTTAAATCCATTCATGTTC	0.363000													27	50					0	0	0.001786	0	0
CARD10	29775	broad.mit.edu	37	22	37906369	37906369	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37906369C>T	ENST00000403299.1	-	5	975	c.759G>A	c.(757-759)agG>agA	p.R253R	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000251973.5_Silent_p.R253R			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	253					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCCCTGGCCCTTCGAAGCA	0.597000													16	16					0	0	0.004990	0	0
OR4C16	219428	broad.mit.edu	37	11	55339661	55339661	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55339661T>A	ENST00000314634.3	+	1	58	c.58T>A	c.(58-60)Ttt>Att	p.F20I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACAGGATCCTTTTTGGAAGAA	0.398000													33	67					0	0	0.003755	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214092	3214092	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214092C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							CTGACCCAAACTGTTGCCCTG	0.542000													37	55					0	0	0.006999	0	0
DDX23	9416	broad.mit.edu	37	12	49237790	49237790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49237790G>A	ENST00000308025.3	-	3	332	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCTTATTCCGATCCCGCTCC	0.488000													69	178					0	0	0.003610	0	0
CENPF	1063	broad.mit.edu	37	1	214818204	214818204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214818204G>A	ENST00000366955.3	+	13	5459	c.5291G>A	c.(5290-5292)gGg>gAg	p.G1764E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1860					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GATTTCCTGGGGAATCAGGAA	0.408000													12	36					0	0	0.000978	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406540	75406540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75406540C>T	ENST00000394810.2	-	4	3019	c.2870G>A	c.(2869-2871)cGa>cAa	p.R957Q	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R733Q	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	957						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGAAAATCGGGGCCTGGC	0.642000													23	73					0	0	0.003330	0	0
AGAP11	119385	broad.mit.edu	37	10	88769011	88769011	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:88769011C>T	ENST00000444431.1	+	0	3611				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TGCAGTCGATCCAAAACATGC	0.552000													65	113					0	0	0.003610	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626322	41626322	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41626322C>T	ENST00000331105.2	+	4	477	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	135					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACGGAATTTCGGGATGGGGA	0.527000													47	84					0	0	0.003610	0	0
FAM214A	56204	broad.mit.edu	37	15	52905952	52905952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:52905952C>T	ENST00000261844.7	-	3	271	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.R47Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	40																	GCTTTCTGTTCGACCTTTTAC	0.433000													6	21					0	0	0.001168	0	0
OR2M3	127062	broad.mit.edu	37	1	248366491	248366491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248366491G>A	ENST00000456743.1	+	1	160	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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;0.0245)			GCCTTCATGGGAAACTCTGTC	0.537000													57	118					0	0	0.003610	0	0
PSG1	5669	broad.mit.edu	37	19	43372369	43372369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:43372369C>T	ENST00000244296.2	-	5	1264	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	PSG1_ENST00000436291.2_Missense_Mutation_p.G376E|PSG1_ENST00000403380.3_Missense_Mutation_p.G283E|PSG1_ENST00000595356.1_Missense_Mutation_p.G376E|PSG1_ENST00000595124.1_Missense_Mutation_p.G283E|PSG1_ENST00000312439.6_Missense_Mutation_p.G376E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.G376E(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAGCTTTTGTCCTGGTAGCTG	0.453000													50	135					0	0	0.003610	0	0
FSIP2	401024	broad.mit.edu	37	2	186669973	186669973	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:186669973A>T	ENST00000343098.5	+	17	16207	c.16207A>T	c.(16207-16209)Aaa>Taa	p.K5403*	FSIP2_ENST00000424728.1_Nonsense_Mutation_p.K5314*	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTTGGCTCTAAAACTTGCAAA	0.308000													41	137					0	0	0.007835	0	0
RXFP3	51289	broad.mit.edu	37	5	33936924	33936924	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33936924C>T	ENST00000330120.3	+	1	434	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	27						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACTCTTCAGTCTGGTCCCGGA	0.622000													24	50					0	0	0.003330	0	0
KY	339855	broad.mit.edu	37	3	134322757	134322757	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:134322757G>A	ENST00000508956.1	-	10	1644	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.F550F			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	552						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AATTAAAGACGAAGATGTAGT	0.517000													20	33					0	0	0.001523	0	0
IGHV3-7	28452	broad.mit.edu	37	14	106518702	106518702	+	RNA	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106518702C>A	ENST00000390598.2	-	0	127																											TCACACTGGACACCTGCAAAC	0.522000													28	49					7.41945e-09	1.16137e-08	0.005443	1	0
ERMP1	79956	broad.mit.edu	37	9	5797900	5797900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5797900G>A	ENST00000339450.5	-	13	2392	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	ERMP1_ENST00000543230.1_Missense_Mutation_p.S346F|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	768					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ATTTCTTGGAGAAACTTCTGG	0.373000													43	130					0	0	0.003214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968437	64968437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64968437C>T	ENST00000399262.2	-	10	3210	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	JMJD1C_ENST00000542921.1_Missense_Mutation_p.D816N|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D779N|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D779N	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	998					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)					AATACTGGATCCACAAAATGC	0.418000													38	103					0	0	0.007835	0	0
TTN	7273	broad.mit.edu	37	2	179610611	179610611	+	Missense_Mutation	SNP	C	C	T	rs148430495	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179610611C>T	ENST00000360870.5	-	46	16738	c.16516G>A	c.(16516-16518)Gaa>Aaa	p.E5506K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						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)			ACCTGAAATTCAAAAAAACTG	0.383000													27	71					0	0	0.005443	0	0
POU4F3	5459	broad.mit.edu	37	5	145719179	145719179	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145719179G>A	ENST00000230732.4	+	2	278	c.189G>A	c.(187-189)gtG>gtA	p.V63V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	63					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCGGCGGTGGATATCGTCT	0.602000													24	51					0	0	0.003954	0	0
LOXL4	84171	broad.mit.edu	37	10	100017523	100017523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100017523C>T	ENST00000260702.3	-	8	1294	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	382	SRCR 3.					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)		CGCTCATATCCCCTGCAGCGC	0.587000													17	42					0	0	0.007413	0	0
ZNF777	27153	broad.mit.edu	37	7	149152579	149152579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:149152579G>A	ENST00000247930.4	-	2	858	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCTGCCGTGGGGAGCGGCTGT	0.617000													29	75					0	0	0.001786	0	0
HCN2	610	broad.mit.edu	37	19	615843	615843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:615843C>T	ENST00000251287.2	+	8	2092	c.2039C>T	c.(2038-2040)tCg>tTg	p.S680L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	680					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GACCTCAACTCGGGCGTATTC	0.612000													12	24					0	0	0.001855	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744466	91744466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:91744466C>T	ENST00000389857.6	-	29	4944	c.4858G>A	c.(4858-4860)Gcc>Acc	p.A1620T	CCDC88C_ENST00000331194.7_Missense_Mutation_p.A144T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1620					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGTGTGCTGGCTTCCCGGGGC	0.687000													10	16					0	0	0.006214	0	0
MAP3K7	6885	broad.mit.edu	37	6	91233485	91233485	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:91233485G>A	ENST00000369329.3	-	14	1535	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	MAP3K7_ENST00000369325.3_Silent_p.S458S|MAP3K7_ENST00000369320.1_Silent_p.S112S|MAP3K7_ENST00000369332.3_Silent_p.S431S|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Silent_p.S431S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	458					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACTGGGACTGGATGACCTAC	0.433000													11	38					0	0	0.000978	0	0
RYR3	6263	broad.mit.edu	37	15	33941312	33941312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33941312C>T	ENST00000389232.4	+	31	4088	c.4018C>T	c.(4018-4020)Cca>Tca	p.P1340S	RYR3_ENST00000415757.3_Missense_Mutation_p.P1340S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1340	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGACAGGATCCATCCTGTGT	0.537000													28	59					0	0	0.002445	0	0
KCNH7	90134	broad.mit.edu	37	2	163236468	163236468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:163236468G>A	ENST00000332142.5	-	14	3125	c.3026C>T	c.(3025-3027)cCa>cTa	p.P1009L		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1009					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTGCAGATGGACTGGAGTC	0.498000													38	93					0	0	0.006999	0	0
KDM5B	10765	broad.mit.edu	37	1	202705423	202705423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202705423G>A	ENST00000367265.3	-	21	4346	c.3182C>T	c.(3181-3183)aCc>aTc	p.T1061I	KDM5B_ENST00000367264.2_Missense_Mutation_p.T1097I	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1061					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGCTACTAGGGTTTCCAGTCT	0.443000													9	27					0	0	0.004482	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486981	20486981	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20486981C>T	ENST00000573854.1	+	8	1098	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ACSM2A_ENST00000417235.2_Silent_p.F249F|ACSM2A_ENST00000575690.1_Silent_p.F328F|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.F328F|ACSM2A_ENST00000536134.1_Silent_p.F100F|ACSM2A_ENST00000396104.2_Silent_p.F328F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	328					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTTACAAGTTCCCCCATCTAC	0.512000													32	84					0	0	0.002836	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483519	45483519	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45483519G>A	ENST00000291574.4	+	7	1066	c.891G>A	c.(889-891)caG>caA	p.Q297Q		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	297					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AATCGATCCAGAGGCGAGAAG	0.567000													5	53					0	0	0.000602	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651726	127651726	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:127651726G>A	ENST00000373555.4	-	17	1920	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	529	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCTCCAGCTGGAGAATCTCCT	0.547000													38	101					0	0	0.007835	0	0
CSMD1	64478	broad.mit.edu	37	8	2964161	2964161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2964161C>T	ENST00000602557.1	-	47	7396	c.6841G>A	c.(6841-6843)Gat>Aat	p.D2281N	CSMD1_ENST00000542608.1_Missense_Mutation_p.D2280N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D2281N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2281N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2280N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2281N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2281	Sushi 13.					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)		TTCACAAAATCTCCTAGAAGA	0.468000													6	17					0	0	0.001168	0	0
SLC17A3	10786	broad.mit.edu	37	6	25850383	25850383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25850383G>A	ENST00000397060.4	-	9	1125	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	SLC17A3_ENST00000360657.3_Missense_Mutation_p.P261L|SLC17A3_ENST00000361703.6_Missense_Mutation_p.P261L	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	261					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AACAATAAAAGGAAGGGCAGA	0.378000													6	16					0	0	0.001168	0	0
PLD2	5338	broad.mit.edu	37	17	4722407	4722407	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4722407C>T	ENST00000263088.6	+	22	2333	c.2202C>T	c.(2200-2202)tcC>tcT	p.S734S	PLD2_ENST00000572940.1_Silent_p.S734S	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	734	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTATATTTCCATCTGCGGGC	0.612000													8	25					0	0	0.003080	0	0
INTU	27152	broad.mit.edu	37	4	128564854	128564854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:128564854C>T	ENST00000335251.5	+	2	428	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	INTU_ENST00000296461.5_Missense_Mutation_p.P109S	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	109										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAGTATGAACCCAAACTCAA	0.363000													44	63					0	0	0.001951	0	0
HYDIN	54768	broad.mit.edu	37	16	70972645	70972645	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:70972645C>T	ENST00000393567.2	-	44	7017	c.6867G>A	c.(6865-6867)aaG>aaA	p.K2289K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2289										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)				CAAGAGCTCCCTTGTGCTTGC	0.517000													4	12					0	0	0.001168	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677912	55677912	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55677912G>A	ENST00000527223.2	-	1	106	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.S35S|DNAAF3_ENST00000524407.2_5'UTR	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN	dynein, axonemal, assembly factor 3	0																	AAATATCCCGGGACGCCCCTT	0.612000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	88					0	0	0.003610	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808267	18808267	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:18808267C>T	ENST00000400664.1	+	1	844	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	264						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCTCATCCATAGCCCGCG	0.587000													24	22					0	0	0.003954	0	0
CUL9	23113	broad.mit.edu	37	6	43164546	43164546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:43164546C>T	ENST00000252050.4	+	11	2833	c.2749C>T	c.(2749-2751)Ctc>Ttc	p.L917F	CUL9_ENST00000372647.2_Missense_Mutation_p.L917F|CUL9_ENST00000354495.3_Missense_Mutation_p.L807F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	917					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACGCACCATCCTCATGATGCT	0.537000													6	33					0	0	0.001168	0	0
CAGE1	285782	broad.mit.edu	37	6	7378996	7378996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7378996C>T	ENST00000502583.1	-	4	1105	c.541G>A	c.(541-543)Gag>Aag	p.E181K	CAGE1_ENST00000338150.4_Missense_Mutation_p.E181K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E181K|CAGE1_ENST00000379918.4_Missense_Mutation_p.E181K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E45K|CAGE1_ENST00000509324.1_Intron	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	181										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTAAAATACTCGTTACCAAGT	0.383000													14	46					0	0	0.004007	0	0
WDR86	349136	broad.mit.edu	37	7	151093230	151093230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151093230G>A	ENST00000334493.6	-	3	788	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Missense_Mutation_p.R120W	NM_198285.2	NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	120										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACCCGAGCTGTCCGG	0.642000													20	31					0	0	0.003330	0	0
SYCP1	6847	broad.mit.edu	37	1	115453110	115453110	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:115453110C>T	ENST00000369522.3	+	17	1653	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	SYCP1_ENST00000369518.1_Silent_p.L471L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	471					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TTGGTCTTCTCCAAGCCAGAG	0.259000													24	83					0	0	0.005443	0	0
DYSF	8291	broad.mit.edu	37	2	71791313	71791313	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:71791313T>A	ENST00000258104.3	+	24	2758	c.2481T>A	c.(2479-2481)aaT>aaA	p.N827K	DYSF_ENST00000410041.1_Missense_Mutation_p.N845K|DYSF_ENST00000429174.2_Missense_Mutation_p.N827K|DYSF_ENST00000409744.1_Missense_Mutation_p.N814K|DYSF_ENST00000410020.3_Missense_Mutation_p.N845K|DYSF_ENST00000413539.2_Missense_Mutation_p.N858K|DYSF_ENST00000409651.1_Missense_Mutation_p.N859K|DYSF_ENST00000409366.1_Missense_Mutation_p.N828K|DYSF_ENST00000409762.1_Missense_Mutation_p.N844K|DYSF_ENST00000409582.3_Missense_Mutation_p.N844K|DYSF_ENST00000394120.2_Missense_Mutation_p.N828K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	827						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGGCAAGAATTGTGGGAAGC	0.507000													24	71					0	0	0.004656	0	0
DDX23	9416	broad.mit.edu	37	12	49239535	49239535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49239535G>A	ENST00000308025.3	-	2	110	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	11						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GATGCATCACGGTCCTTTTTG	0.468000													12	20					0	0	0.001855	0	0
YWHAG	7532	broad.mit.edu	37	7	75959206	75959206	+	Silent	SNP	C	C	A	rs140411299		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75959206C>A	ENST00000307630.3	-	2	654	c.432G>T	c.(430-432)gcG>gcT	p.A144A		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	144				AT -> GD (in Ref. 1; AAD48408).	G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCACCACCGTCGCCCTTTTCT	0.572000													38	73					5.71845e-15	8.99893e-15	0.005524	1	0
CRMP1	1400	broad.mit.edu	37	4	5843135	5843135	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:5843135G>A	ENST00000324989.7	-	8	1141	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.F235F|CRMP1_ENST00000397890.2_Silent_p.F237F	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	237				Missing (in Ref. 6; AAK55500).	axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGATGGCCCGGAACACCGCCT	0.557000													40	65					0	0	0.002222	0	0
FLT3	2322	broad.mit.edu	37	13	28626773	28626773	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:28626773T>A	ENST00000380982.4	-	5	604	c.523A>T	c.(523-525)Aaa>Taa	p.K175*	FLT3_ENST00000241453.7_Nonsense_Mutation_p.K175*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.K175*			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	175					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTCCATTTTTCTAAAGTAA	0.413000			"""Mis, O"""		"""AML, ALL"""								24	67					0	0	0.005443	0	0
STK24	8428	broad.mit.edu	37	13	99112639	99112639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:99112639G>A	ENST00000397517.2	-	9	1185	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L	STK24_ENST00000376547.3_Missense_Mutation_p.P382L|STK24_ENST00000539966.1_Missense_Mutation_p.P351L	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	382					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACAGAGGAGAAATAAT	0.488000													14	32					0	0	0.003163	0	0
PELO	53918	broad.mit.edu	37	5	52096730	52096730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:52096730C>T	ENST00000274311.2	+	2	1487	c.502C>T	c.(502-504)Cct>Tct	p.P168S	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	168					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGAACATCCCTAGGAAAAG	0.562000													24	59					0	0	0.003954	0	0
WDR92	116143	broad.mit.edu	37	2	68368839	68368839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:68368839C>T	ENST00000295121.6	-	4	620	c.504G>A	c.(502-504)tgG>tgA	p.W168*	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Nonsense_Mutation_p.W168*|WDR92_ENST00000406245.2_Nonsense_Mutation_p.W67*	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	168					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ATGCCACAGTCCAACAGTCTC	0.398000													29	106					0	0	0.001512	0	0
C1S	716	broad.mit.edu	37	12	7177206	7177206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:7177206G>A	ENST00000406697.1	+	15	1946	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	C1S_ENST00000402681.3_Missense_Mutation_p.G273R|C1S_ENST00000360817.5_Missense_Mutation_p.G440R|C1S_ENST00000328916.3_Missense_Mutation_p.G440R|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	440	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGATAATTGGAGGATCCGA	0.478000													33	58					0	0	0.005524	0	0
HM13	81502	broad.mit.edu	37	20	30126009	30126009	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:30126009C>T	ENST00000335574.5	+	3	434	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	HM13_ENST00000376127.3_Silent_p.L104L|HM13_ENST00000340852.5_Silent_p.L104L|HM13_ENST00000398174.3_Silent_p.L104L|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	104					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CATCAACCTCCTGCTGTCCAT	0.507000													49	44					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33938583	33938583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:33938583C>T	ENST00000389232.4	+	29	3867	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	RYR3_ENST00000415757.3_Missense_Mutation_p.P1266L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1266	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGGACAGCCCTCCGTGTCTC	0.527000													57	88					0	0	0.003610	0	0
SACS	26278	broad.mit.edu	37	13	23910790	23910790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:23910790G>A	ENST00000382298.3	-	10	7813	c.7225C>T	c.(7225-7227)Caa>Taa	p.Q2409*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q2409*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q1659*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2409					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)		CCTCTTTCTTGATCAATAGAT	0.353000													13	31					0	0	0.001368	0	0
ANK3	288	broad.mit.edu	37	10	61844448	61844448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61844448C>T	ENST00000280772.1	-	32	4177	c.3986G>A	c.(3985-3987)cGa>cAa	p.R1329Q	ANK3_ENST00000373827.2_Missense_Mutation_p.R1323Q|ANK3_ENST00000503366.1_Missense_Mutation_p.R1330Q|ANK3_ENST00000355288.2_Missense_Mutation_p.R463Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1329					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						GCAGAAACATCGCAAGGAAGA	0.398000													36	96					0	0	0.005524	0	0
SF3A3	10946	broad.mit.edu	37	1	38450406	38450406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38450406G>A	ENST00000373019.4	-	5	1304	c.349C>T	c.(349-351)Cga>Tga	p.R117*	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Nonsense_Mutation_p.R64*	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	117					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGATTCTCTCGAGCCTTCAGG	0.423000													20	64					0	0	0.001523	0	0
C17orf74	201243	broad.mit.edu	37	17	7330552	7330552	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7330552G>A	ENST00000333870.3	+	3	1316	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	414						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCATCAACGGACCCCAGCTC	0.677000													12	18					0	0	0.003163	0	0
BTAF1	9044	broad.mit.edu	37	10	93751878	93751878	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:93751878T>G	ENST00000265990.6	+	21	3165	c.2857T>G	c.(2857-2859)Tcc>Gcc	p.S953A		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	953					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTTATTAGGATCCACCTCAGA	0.348000													6	31					0	0	0.001984	0	0
PLCB1	23236	broad.mit.edu	37	20	8707959	8707959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8707959G>A	ENST00000378641.3	+	17	2157	c.1682G>A	c.(1681-1683)aGa>aAa	p.R561K	PLCB1_ENST00000338037.6_Missense_Mutation_p.R561K|PLCB1_ENST00000378637.2_Missense_Mutation_p.R561K|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	561	PI-PLC Y-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						AACTCAGAAAGAAATAAAAGT	0.318000													10	47					0	0	0.006214	0	0
FRY	10129	broad.mit.edu	37	13	32836501	32836501	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32836501C>T	ENST00000380250.3	+	53	8164	c.7668C>T	c.(7666-7668)acC>acT	p.T2556T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2556					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)		AGCTGCTCACCACAGCCTGTG	0.438000													15	25					0	0	0.003163	0	0
RWDD2A	112611	broad.mit.edu	37	6	83904175	83904175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:83904175C>T	ENST00000369724.4	+	2	210	c.5C>T	c.(4-6)tCt>tTt	p.S2F	RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	2										cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		GGCAACATGTCTGCTTCGGTG	0.478000													6	19					0	0	0.003080	0	0
OR2T33	391195	broad.mit.edu	37	1	248437021	248437021	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248437021G>A	ENST00000318021.2	-	1	117	c.96C>T	c.(94-96)atC>atT	p.I32I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGTCAAAACGATACTCAGAA	0.478000													24	26					0	0	0.007291	0	0
CD226	10666	broad.mit.edu	37	18	67563103	67563103	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:67563103G>A	ENST00000280200.4	-	4	829	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CD226_ENST00000577287.1_Silent_p.F32F|CD226_ENST00000582621.1_Silent_p.F187F|CD226_ENST00000581982.1_Silent_p.F32F	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	187	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACTTGGAGGTGAAATTTCTGC	0.537000													24	59					0	0	0.003330	0	0
MYH14	79784	broad.mit.edu	37	19	50784936	50784936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50784936C>T	ENST00000440075.2	+	33	4423	c.4376C>T	c.(4375-4377)gCc>gTc	p.A1459V	MYH14_ENST00000601313.1_Missense_Mutation_p.A1459V|MYH14_ENST00000425460.1_Missense_Mutation_p.A1426V|MYH14_ENST00000598205.1_Missense_Mutation_p.A1426V|MYH14_ENST00000596571.1_Missense_Mutation_p.A1418V|MYH14_ENST00000376970.2_Missense_Mutation_p.A1451V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1459V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1418					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCGGGAGGCCGAGGCCCTG	0.736000													6	15					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70964929	70964929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:70964929G>A	ENST00000334414.6	-	13	3291	c.3247C>T	c.(3247-3249)Cac>Tac	p.H1083Y	PTPRB_ENST00000451516.2_Missense_Mutation_p.H775Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.H865Y|PTPRB_ENST00000551525.1_Missense_Mutation_p.H1082Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.H865Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.H995Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.H775Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	865	Fibronectin type-III 12.				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)			TTTACAAGGTGAAAAGGAGGA	0.458000													17	36					0	0	0.004990	0	0
TNN	63923	broad.mit.edu	37	1	175097181	175097181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:175097181G>A	ENST00000239462.4	+	14	3172	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1020	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.G1020A(1)		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)		ATGCAGCTGGGACGGGAAGAC	0.547000													18	29					0	0	0.007413	0	0
NOL8	55035	broad.mit.edu	37	9	95086441	95086441	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:95086441C>T	ENST00000545558.1	-	2	495	c.3G>A	c.(1-3)atG>atA	p.M1I	NOL8_ENST00000535387.1_Start_Codon_SNP_p.M1I|NOL8_ENST00000358855.4_5'UTR|NOL8_ENST00000543985.1_5'UTR|NOL8_ENST00000542053.1_Intron|NOL8_ENST00000442668.2_Start_Codon_SNP_p.M1I			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTTCACTTTCATGAAGGCTG	0.408000													42	155					0	0	0.003610	0	0
OR52N5	390075	broad.mit.edu	37	11	5799030	5799030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5799030G>A	ENST00000317093.2	-	1	867	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGAAGGGGGAATTGTGTGT	0.443000													18	39					0	0	0.007413	0	0
ATM	472	broad.mit.edu	37	11	108175548	108175548	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108175548C>T	ENST00000278616.4	+	37	6028	c.5643C>T	c.(5641-5643)agC>agT	p.S1881S	ATM_ENST00000452508.2_Silent_p.S1881S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1881					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CGCAAACGAGCCGATCCACAA	0.363000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	31					0	0	0.001368	0	0
SALL3	27164	broad.mit.edu	37	18	76757144	76757144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76757144C>T	ENST00000536229.3	+	3	3819	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L	SALL3_ENST00000575389.2_Missense_Mutation_p.P1170L|SALL3_ENST00000537592.2_Missense_Mutation_p.P1242L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCAGCTCCCCGTGAGTCTT	0.617000													29	69					0	0	0.001512	0	0
ZNF554	115196	broad.mit.edu	37	19	2834269	2834269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2834269C>T	ENST00000317243.5	+	5	1234	c.1036C>T	c.(1036-1038)Cac>Tac	p.H346Y		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TCAAAGAATTCACACGGGGGA	0.527000													14	38					0	0	0.003163	0	0
ATHL1	80162	broad.mit.edu	37	11	293452	293452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:293452C>T	ENST00000409548.2	+	9	1545	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	ATHL1_ENST00000409479.1_Missense_Mutation_p.P504L|ATHL1_ENST00000409655.1_Intron	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	477					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAAGGTACCCTTTGACGTG	0.632000													13	31					0	0	0.001855	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212568	49212568	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49212568G>A	ENST00000332780.2	+	5	1049	c.840G>A	c.(838-840)ggG>ggA	p.G280G		NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	280						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGTCCCTTGGGGGCCACATTG	0.597000													9	24					0	0	0.006214	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330504	42330504	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:42330504G>T	ENST00000262418.6	-	17	2448	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	765	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAGCGACCAGGAGTCCACTG	0.637000													6	47					0.00307968	0.00477669	0.003080	1	0
DSG2	1829	broad.mit.edu	37	18	29099784	29099784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29099784G>A	ENST00000261590.8	+	3	309	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	DSG2_ENST00000585206.1_Missense_Mutation_p.E34K	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	34					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACAAGAAATGAAAATAAGCT	0.398000													30	40					0	0	0.007291	0	0
HAGH	3029	broad.mit.edu	37	16	1859771	1859771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1859771G>A	ENST00000397356.3	-	8	1217	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	HAGH_ENST00000397353.2_Missense_Mutation_p.P223S|HAGH_ENST00000567398.1_5'UTR|HAGH_ENST00000566709.1_Missense_Mutation_p.P223S|HAGH_ENST00000455446.2_Silent_p.T234T	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	271					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CTCATGAAGGGGTTGTAGGTA	0.617000													12	48					0	0	0.002450	0	0
MAT1A	4143	broad.mit.edu	37	10	82043777	82043777	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:82043777C>G	ENST00000372213.3	-	3	447	c.187G>C	c.(187-189)Ggc>Cgc	p.G63R		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	63					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACCATGCCGGTCTTGCAC	0.577000													6	14					0	0	0.001168	0	0
RASGRF1	5923	broad.mit.edu	37	15	79290502	79290502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:79290502C>T	ENST00000419573.3	-	20	3224	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E200K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E968K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	986					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						ATGACTTCTTCCAGGAAGCCG	0.557000													18	63					0	0	0.002299	0	0
BTBD11	121551	broad.mit.edu	37	12	108012029	108012029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:108012029G>A	ENST00000280758.5	+	10	2854	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E776K|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Missense_Mutation_p.E313K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	776						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						TGACCTGGCGGAGACAGCCCC	0.617000													9	31					0	0	0.004482	0	0
AXIN2	8313	broad.mit.edu	37	17	63533654	63533654	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:63533654G>A	ENST00000307078.5	-	6	1813	c.1500C>T	c.(1498-1500)ctC>ctT	p.L500L	AXIN2_ENST00000375702.5_Silent_p.L500L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	500					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTTGCCCCCGAGGAGGGGGC	0.677000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				15	20					0	0	0.002450	0	0
SLC24A3	57419	broad.mit.edu	37	20	19701694	19701694	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:19701694C>T	ENST00000328041.6	+	17	2042	c.1845C>T	c.(1843-1845)ctC>ctT	p.L615L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	615						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						GTGGGTGCCTCCTCCTGTATG	0.592000													40	74					0	0	0.001951	0	0
GPR179	440435	broad.mit.edu	37	17	36485943	36485943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36485943C>T	ENST00000342292.4	-	11	3529	c.3509G>A	c.(3508-3510)cGg>cAg	p.R1170Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1170						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R1170L(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGCCCTCCCGTTGACAGAC	0.577000													55	82					0	0	0.003610	0	0
NPFFR1	64106	broad.mit.edu	37	10	72025858	72025858	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:72025858G>A	ENST00000277942.5	-	2	304	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	99						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						CCACAAGGGTGGTGGGCATGC	0.542000													15	48					0	0	0.004990	0	0
REN	5972	broad.mit.edu	37	1	204129794	204129794	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204129794A>T	ENST00000367195.2	-	4	429	c.386T>A	c.(385-387)cTc>cAc	p.L129H	REN_ENST00000272190.8_Missense_Mutation_p.L129H			P00797	RENI_HUMAN	renin	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCATCGAAGAGCTTGTGATA	0.552000													31	63					0	0	0.003271	0	0
PEAK1	79834	broad.mit.edu	37	15	77425472	77425472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:77425472G>A	ENST00000560626.2	-	6	4427	c.3952C>T	c.(3952-3954)Cgt>Tgt	p.R1318C	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1318C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1318	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACTCCAAAACGGAGCTGGTCT	0.468000													32	48					0	0	0.002836	0	0
PCNT	5116	broad.mit.edu	37	21	47744193	47744193	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:47744193G>A	ENST00000359568.5	+	1	158	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	17					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCGGGAGGACGAAGGTAAACA	0.667000													6	9					0	0	0.001984	0	0
RARRES3	5920	broad.mit.edu	37	11	63312210	63312210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:63312210G>A	ENST00000439013.2	+	3	289	c.236G>A	c.(235-237)aGc>aAc	p.S79N	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.S79N|RARRES3_ENST00000255688.3_Missense_Mutation_p.S79N			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	79					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTCAACAACAGCTTGGACCAT	0.542000													26	50					0	0	0.004656	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120219	38120219	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38120219C>T	ENST00000406386.3	+	7	1911	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	552					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACAACATCCTGTGCCCAGC	0.592000													10	107					0	0	0.006214	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002556	41002556	+	Silent	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41002556G>T	ENST00000244565.3	-	2	346	c.258C>A	c.(256-258)ccC>ccA	p.P86P	UNC5CL_ENST00000373164.1_Silent_p.P86P	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	86					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCTTGAGTGGGTGTGTGTA	0.572000													6	116					0.00307968	0.00477669	0.003080	1	0
GALNT12	79695	broad.mit.edu	37	9	101594134	101594134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101594134C>T	ENST00000375011.3	+	4	812	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	271						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CTGGGGAACTCCGGGGAGCCC	0.577000													11	33					0	0	0.001368	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036649	60036649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:60036649G>A	ENST00000586569.1	+	9	1537	c.1499G>A	c.(1498-1500)aGg>aAg	p.R500K	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	500					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCTGATGGGAGGCTCCCAAGC	0.647000													20	51					0	0	0.001882	0	0
MIOX	55586	broad.mit.edu	37	22	50926416	50926416	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50926416C>T	ENST00000395732.3	+	4	301	c.279C>T	c.(277-279)ttC>ttT	p.F93F	MIOX_ENST00000216075.6_Silent_p.F93F|MIOX_ENST00000395733.3_Silent_p.F93F			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	93					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACGTAGATTTCCCCAACTCCT	0.617000													17	27					0	0	0.007413	0	0
CES2	8824	broad.mit.edu	37	16	66976689	66976689	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:66976689G>A	ENST00000317091.4	+	10	2596		c.e10+1		CES2_ENST00000417689.1_Intron|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2						catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GGCAACTACAGTGAGTCTTCT	0.527000													11	37					0	0	0.001855	0	0
OR4M2	390538	broad.mit.edu	37	15	22369509	22369509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369509G>A	ENST00000332663.2	+	1	1032	c.934G>A	c.(934-936)Gag>Aag	p.E312K	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTGTAAAGAGAAGTGAAA	0.343000													7	33					0	0	0.001984	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816852	77816852	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77816852C>T	ENST00000334306.2	-	1	2150	c.2151G>A	c.(2149-2151)ggG>ggA	p.G717G		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	717																	GCCATATTTCCCCAGAGGTAT	0.512000													61	133					0	0	0.003610	0	0
OR10P1	121130	broad.mit.edu	37	12	56031539	56031539	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:56031539C>T	ENST00000309675.2	+	1	896	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCTCAACCCCATCATCTACA	0.597000													16	36					0	0	0.004990	0	0
LHFP	10186	broad.mit.edu	37	13	39952608	39952608	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39952608T>C	ENST00000379589.3	-	3	903	c.441A>G	c.(439-441)gaA>gaG	p.E147E		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	147						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TCTGCCGGACTTCCTCACTGT	0.498000			T	HMGA2	lipoma								25	57					0	0	0.002096	0	0
LRP2	4036	broad.mit.edu	37	2	170038101	170038101	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170038101G>A	ENST00000263816.3	-	52	10311	c.10026C>T	c.(10024-10026)caC>caT	p.H3342H	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3342					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGTATGCGCGGTGACCCCAGT	0.488000													12	31					0	0	0.001855	0	0
KLF12	11278	broad.mit.edu	37	13	74420039	74420039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:74420039C>T	ENST00000377669.2	-	3	621	c.595G>A	c.(595-597)Gct>Act	p.A199T	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.A199T	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	199					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)		GACCTTACAGCTGTGTAGACA	0.493000													14	49					0	0	0.004007	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:32087274G>A	ENST00000438447.1	+	20	4108	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PDZD2_ENST00000282493.3_Silent_p.G1240G			O15018	PDZD2_HUMAN	PDZ domain containing 2	1240					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						CTTCCCCAGGGAAGAAGGGGG	0.567000													32	67					0	0	0.005524	0	0
COL5A1	1289	broad.mit.edu	37	9	137660267	137660267	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137660267G>A	ENST00000371817.3	+	25	2658	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	748	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCTTGGGGAAACCAGGCC	0.592000													21	79					0	0	0.002780	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081754	17081754	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17081754G>A	ENST00000443236.1	-	18	2332	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	720						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGGGGCTGGAAAGCGGGGA	0.597000													22	30					0	0	0.002299	0	0
ZNF876P	642280	broad.mit.edu	37	4	248200	248200	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:248200C>T	ENST00000356347.3	+	0	1024					NR_027481.1																						CAAGAGAATTCATACTGGTGA	0.363000													5	31					0	0	0.000602	0	0
GRIK1	2897	broad.mit.edu	37	21	30953850	30953850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:30953850C>T	ENST00000399914.1	-	12	2283	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	GRIK1_ENST00000399913.1_Missense_Mutation_p.E603K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E588K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E605K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E603K|GRIK1_ENST00000399907.1_Missense_Mutation_p.E603K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E603K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E588K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E605K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	603					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTATACCACTCGTAGGGTGTA	0.433000													22	21					0	0	0.003330	0	0
POTEC	388468	broad.mit.edu	37	18	14524953	14524953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:14524953C>T	ENST00000358970.5	-	7	1155	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	386										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTTGTGACTCTTCCTCTGAT	0.303000													19	62					0	0	0.001882	0	0
F11	2160	broad.mit.edu	37	4	187205281	187205281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:187205281G>A	ENST00000264692.4	+	11	1348	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	F11_ENST00000403665.2_Missense_Mutation_p.G391R			P03951	FA11_HUMAN	coagulation factor XI	391	Apple 4.		C -> F (in dbSNP:rs5967).		blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GATCGTTGGAGGAACTGCGTC	0.517000													31	68					0	0	0.003755	0	0
LPHN2	23266	broad.mit.edu	37	1	82456096	82456096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:82456096G>A	ENST00000370728.1	+	25	4292	c.3647G>A	c.(3646-3648)aGg>aAg	p.R1216K	LPHN2_ENST00000335786.5_Missense_Mutation_p.R1173K|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1160K|LPHN2_ENST00000370725.1_Missense_Mutation_p.R1231K|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1173K|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1188K|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1141K|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1188K|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1231K|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1218K|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1160K|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1218K|LPHN2_ENST00000370713.1_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1216					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACAATGCCAGGGATACAAGT	0.418000													28	55					0	0	0.003755	0	0
PDZD3	79849	broad.mit.edu	37	11	119056947	119056947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119056947C>T	ENST00000531114.1	+	2	625	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000525131.1_Missense_Mutation_p.L26F|PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L26F			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	26					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTCCGATCTCCTTGGTAACCA	0.607000													14	14					0	0	0.001855	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:55537550C>T	ENST00000220676.1	+	4	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	370					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)			GATGAGTTTTCCAGGAAGAAC	0.398000													10	25					0	0	0.001368	0	0
FUT1	2523	broad.mit.edu	37	19	49254218	49254218	+	Silent	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49254218G>T	ENST00000310160.3	-	4	1295	c.321C>A	c.(319-321)ggC>ggA	p.G107G		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	107					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCCCGGCGGCCGTTGAGCT	0.657000													15	28					1.52009e-12	2.38871e-12	0.003163	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599771	136599771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:136599771C>T	ENST00000531224.1	-	4	500	c.248G>A	c.(247-249)gGa>gAa	p.G83E	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G81E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G81E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G83E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G83E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G81E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	83					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCTCCTCCTCCTTGATAATA	0.453000													17	100					0	0	0.007413	0	0
KIF5C	3800	broad.mit.edu	37	2	149837950	149837950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149837950G>A	ENST00000435030.1	+	14	1812	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.D250N|KIF5C_ENST00000414838.2_Missense_Mutation_p.D387N			O60282	KIF5C_HUMAN	kinesin family member 5C	482					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGCAGCCAAGGATGAGGTGAA	0.498000													5	11					0	0	0.000602	0	0
CABP5	56344	broad.mit.edu	37	19	48544856	48544856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48544856C>T	ENST00000293255.2	-	2	198	c.68G>A	c.(67-69)aGa>aAa	p.R23K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	23					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCCCAGTGGTCTTTCCTGGAA	0.537000													19	61					0	0	0.003330	0	0
C8B	732	broad.mit.edu	37	1	57411605	57411605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57411605C>T	ENST00000543257.1	-	8	1404	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	C8B_ENST00000371237.4_Missense_Mutation_p.E332K|C8B_ENST00000535057.1_Missense_Mutation_p.E270K	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	332	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCTCTGTATTCCCCGTAGCTG	0.493000													17	39					0	0	0.006122	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229995	140229995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140229995G>A	ENST00000378122.3	+	1	2639	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.E639K|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTGGACGAAACGGACGC	0.667000													20	31					0	0	0.002780	0	0
USP19	10869	broad.mit.edu	37	3	49154226	49154226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49154226G>A	ENST00000453664.1	-	7	1348	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	USP19_ENST00000398892.3_Missense_Mutation_p.P291S|USP19_ENST00000398898.2_Missense_Mutation_p.P291S|USP19_ENST00000398896.1_Missense_Mutation_p.P59S|USP19_ENST00000398888.2_Missense_Mutation_p.P253S|USP19_ENST00000434032.2_Missense_Mutation_p.P354S|USP19_ENST00000417901.1_Missense_Mutation_p.P354S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	253	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTTTCCCAGGGTTTCTGCTC	0.592000													17	25					0	0	0.007413	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965064	26965064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:26965064G>A	ENST00000528896.2	-	14	1635	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	KIAA0100_ENST00000389003.3_Missense_Mutation_p.L378F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L378F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	521						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)					TCAAGAAAAAGGGTATCTGAC	0.493000													19	19					0	0	0.001216	0	0
TRPV1	7442	broad.mit.edu	37	17	3495396	3495396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3495396G>A	ENST00000174621.6	-	2	462	c.173C>T	c.(172-174)cCa>cTa	p.P58L	SHPK_ENST00000572705.1_Silent_p.T83T|TRPV1_ENST00000576351.1_Silent_p.T83T|TRPV1_ENST00000399759.3_Silent_p.T83T|TRPV1_ENST00000310522.5_Silent_p.T83T|TRPV1_ENST00000571088.1_Silent_p.T83T|TRPV1_ENST00000399756.4_Silent_p.T83T|TRPV1_ENST00000425167.2_Silent_p.T83T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	763					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCCTCTGGATGGTGATAACAG	0.652000													8	30					0	0	0.006214	0	0
ESRP1	54845	broad.mit.edu	37	8	95680343	95680343	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95680343T>A	ENST00000433389.2	+	10	1288	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	ESRP1_ENST00000423620.2_Missense_Mutation_p.D366E|ESRP1_ENST00000358397.5_Missense_Mutation_p.D366E|ESRP1_ENST00000454170.2_Missense_Mutation_p.D366E	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	366	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCTACCCAGATGGTAGGCCAA	0.493000													120	257					0	0	0.003610	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357116	20357116	+	Silent	SNP	C	C	T	rs7912840		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:20357116C>T	ENST00000377252.3	+	4	1330	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLXDC2_ENST00000377242.3_Silent_p.F114F|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	163						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCTGTCCTTCGATTTTCCAT	0.388000													14	43					0	0	0.003163	0	0
PDE6C	5146	broad.mit.edu	37	10	95405749	95405749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:95405749C>T	ENST00000371447.3	+	15	2018	c.1880C>T	c.(1879-1881)tCt>tTt	p.S627F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	627					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CTTCATGGTTCTTCTATTTTG	0.408000													25	43					0	0	0.002445	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767085	77767085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:77767085G>A	ENST00000521891.2	+	10	8376	c.7928G>A	c.(7927-7929)gGg>gAg	p.G2643E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G2598E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G2598E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G2617E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2598						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)			CGCGAAGTCGGGCTGAAAAAA	0.512000										HNSCC(33;0.089)			18	40					0	0	0.007413	0	0
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109288048G>A	ENST00000228476.3	+	7	721	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_ENST00000551281.1_Missense_Mutation_p.E107K	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	173					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGTGGCAAGAGAAGGCGCAGA	0.582000													7	23					0	0	0.004482	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815413	67815413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67815413G>A	ENST00000265686.3	+	13	1636	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	TCIRG1_ENST00000532635.1_Missense_Mutation_p.G294R	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	510					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGTCTTCCTGGGACCCTACCC	0.652000													14	27					0	0	0.006122	0	0
UPF1	5976	broad.mit.edu	37	19	18966754	18966754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:18966754C>T	ENST00000262803.5	+	12	1837	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	UPF1_ENST00000599848.1_Missense_Mutation_p.P533L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	533					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GTGTGTGCTCCGAGCAACATC	0.597000													6	28					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	41306506	41306506	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306506C>T	ENST00000373198.3	-	7	1388	c.1153_splice	c.e7+1	p.D385_splice	PTPRT_ENST00000373193.3_Splice_Site_p.D385_splice|PTPRT_ENST00000373184.1_Splice_Site_p.D385_splice|PTPRT_ENST00000373190.1_Splice_Site_p.D385_splice|PTPRT_ENST00000356100.2_Splice_Site_p.D385_splice|PTPRT_ENST00000373187.1_Splice_Site_p.D385_splice|PTPRT_ENST00000373201.1_Splice_Site_p.D385_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	385					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)				AAAATCTTACCTGCACACTTG	0.532000													16	45					0	0	0.004990	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076696	57076696	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:57076696G>A	ENST00000532437.1	-	5	3800	c.3489C>T	c.(3487-3489)gaC>gaT	p.D1163D	TNKS1BP1_ENST00000358252.3_Silent_p.D1163D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1163	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GACCCAGCTGGTCAGTCCAGT	0.602000													21	36					0	0	0.001882	0	0
GRID2	2895	broad.mit.edu	37	4	93225819	93225819	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:93225819C>T	ENST00000282020.4	+	1	270	c.12C>T	c.(10-12)ttC>ttT	p.F4F	GRID2_ENST00000510992.1_Silent_p.F4F|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	4					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAAGTTTTCCCCTTTCTCT	0.468000													13	52					0	0	0.003163	0	0
PEX3	8504	broad.mit.edu	37	6	143806294	143806294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:143806294C>T	ENST00000367591.4	+	11	1010	c.947C>T	c.(946-948)tCc>tTc	p.S316F	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	316					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TTCAGTCTTTCCAGTGTCAGC	0.338000													35	90					0	0	0.001951	0	0
TREML2	79865	broad.mit.edu	37	6	41165886	41165886	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:41165886G>A	ENST00000483722.1	-	2	522	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	113	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAGGGGTACAGGATCCCAGAG	0.627000													4	20					0	0	0.000602	0	0
IL17RA	23765	broad.mit.edu	37	22	17590263	17590263	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17590263C>T	ENST00000319363.6	+	13	2287	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	718					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCGTCCTCTTCCTCCCCGTGG	0.711000													6	12					0	0	0.003080	0	0
C1orf127	148345	broad.mit.edu	37	1	11008769	11008769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:11008769G>A	ENST00000377004.4	-	12	1422	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	C1orf127_ENST00000377008.4_Missense_Mutation_p.H308Y	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	326										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGTGTGGGGTGTCCAGGGATC	0.667000													21	18					0	0	0.001882	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157665	26157665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26157665C>T	ENST00000325250.1	+	2	750	c.563C>T	c.(562-564)aCc>aTc	p.T188I		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	188	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GATGAAACAACCAGTGATGAA	0.473000													6	4					0	0	0.003080	0	0
PKD1L2	114780	broad.mit.edu	37	16	81236305	81236305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:81236305G>A	ENST00000599697.1	-	6	942	c.943C>T	c.(943-945)Cct>Tct	p.P315S	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	315					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATTCCCCAGGAGATGTGAAC	0.532000													9	21					0	0	0.006214	0	0
USP46	64854	broad.mit.edu	37	4	53494232	53494232	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:53494232C>T	ENST00000441222.2	-	3	400	c.216G>A	c.(214-216)aaG>aaA	p.K72K	USP46_ENST00000508499.1_Silent_p.K65K|USP46_ENST00000451218.2_Silent_p.K45K	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	72					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K72N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AGTTTTCCTTCTTCTTTTGCT	0.493000													8	18					0	0	0.006214	0	0
NEO1	4756	broad.mit.edu	37	15	73528761	73528761	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73528761C>T	ENST00000339362.5	+	9	1812	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	NEO1_ENST00000560262.1_Silent_p.I455I|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000261908.6_Silent_p.I455I|NEO1_ENST00000558964.1_Silent_p.I455I			Q92859	NEO1_HUMAN	neogenin 1	455	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		p.I455M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCCGCTTCATCAAATTGACGT	0.552000													9	62					0	0	0.004482	0	0
RNASE12	493901	broad.mit.edu	37	14	21058713	21058713	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:21058713T>A	ENST00000556526.1	-	1	269	c.170A>T	c.(169-171)gAa>gTa	p.E57V	RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GTGGTCAGGTTCCCTGATAAC	0.438000													30	45					0	0	0.001786	0	0
PTPRR	5801	broad.mit.edu	37	12	71286603	71286603	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71286603T>A	ENST00000283228.2	-	2	665	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	71					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTACTTGAGCTTCGGAAGAGG	0.453000													82	145					0	0	0.003610	0	0
CLDN16	10686	broad.mit.edu	37	3	190127728	190127728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:190127728G>A	ENST00000264734.2	+	5	1069	c.821G>A	c.(820-822)aGg>aAg	p.R274K	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	274					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TATTCCTTGAGGAAAGCCTAT	0.408000													22	49					0	0	0.001882	0	0
CENPE	1062	broad.mit.edu	37	4	104080310	104080310	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:104080310G>C	ENST00000265148.3	-	22	2547	c.2458C>G	c.(2458-2460)Caa>Gaa	p.Q820E	CENPE_ENST00000380026.3_Missense_Mutation_p.Q795E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	820					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAAATTTTGGAATTCTTGA	0.343000													24	49					0	0	0.003954	0	0
SVEP1	79987	broad.mit.edu	37	9	113194893	113194893	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:113194893A>T	ENST00000401783.2	-	31	5418	c.5082T>A	c.(5080-5082)ccT>ccA	p.P1694P	SVEP1_ENST00000374469.1_Silent_p.P1671P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1694	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAAAGGAGGTGGCACCC	0.448000													33	65					0	0	0.002222	0	0
MAK16	84549	broad.mit.edu	37	8	33347814	33347814	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:33347814T>C	ENST00000360128.6	+	6	861	c.404T>C	c.(403-405)gTt>gCt	p.V135A	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	135						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						AGGAAACTTGTTCCTTTGAGT	0.373000													13	25					0	0	0.003163	0	0
MRPL11	65003	broad.mit.edu	37	11	66206157	66206157	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66206157G>A	ENST00000310999.7	-	1	162	c.69C>T	c.(67-69)atC>atT	p.I23I	MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000329819.4_Silent_p.I23I|MRPL11_ENST00000430466.2_Intron	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	23					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CTGCCCGCACGATCGCCCGGA	0.711000													10	21					0	0	0.000673	0	0
KDELR1	10945	broad.mit.edu	37	19	48887538	48887538	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48887538G>A	ENST00000597017.1	-	3	792	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	KDELR1_ENST00000330720.2_Silent_p.L185L			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	185					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCTGGACCAGGCCTGCCACA	0.527000													12	18					0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9089213	9089213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9089213C>T	ENST00000397910.4	-	1	2805	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	868	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						TTCGAAGTTTCCTCTGTTTCT	0.478000													10	25					0	0	0.000673	0	0
USH2A	7399	broad.mit.edu	37	1	216373101	216373101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:216373101C>T	ENST00000366943.2	-	17	4065	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	USH2A_ENST00000366942.3_Missense_Mutation_p.G1227S|USH2A_ENST00000307340.3_Missense_Mutation_p.G1227S|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1227	Fibronectin type-III 2.				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)		TGTAAACAGCCCCCGCTAGTA	0.488000										HNSCC(13;0.011)			20	34					0	0	0.001216	0	0
LGALS9	3965	broad.mit.edu	37	17	25974437	25974437	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:25974437C>T	ENST00000395473.2	+	10	2368	c.900C>T	c.(898-900)ttC>ttT	p.F300F	LGALS9_ENST00000310394.5_Silent_p.F256F|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron|LGALS9_ENST00000302228.5_Silent_p.F268F	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	300	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AAATGCCCTTCGTCCGTGGCC	0.587000													7	7					0	0	0.001984	0	0
TAAR6	319100	broad.mit.edu	37	6	132891844	132891844	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132891844C>T	ENST00000275198.1	+	1	384	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	128						plasma membrane	G-protein coupled receptor activity	p.I128I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCATCTCCATCGACAGGTACA	0.483000													48	168					0	0	0.003610	0	0
CECR6	27439	broad.mit.edu	37	22	17600967	17600967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17600967C>T	ENST00000331437.3	-	1	1176	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S	CECR6_ENST00000399875.1_5'UTR	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	351										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGACGGAAGCCCGTGGTGCCG	0.667000													14	25					0	0	0.002450	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581700	140581700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140581700G>A	ENST00000354757.3	+	1	2353	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.E420K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		785					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATAGTGAAGAAAACTCCAC	0.353000													13	42					0	0	0.002450	0	0
C8orf34	116328	broad.mit.edu	37	8	69699744	69699744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69699744G>A	ENST00000337103.4	+	11	2781	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	C8orf34_ENST00000539993.1_Missense_Mutation_p.E422K|C8orf34_ENST00000325233.3_Missense_Mutation_p.E166K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E508K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	422					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CACAGAAAGTGAAGGAGTGGA	0.353000													6	17					0	0	0.004482	0	0
MLLT6	4302	broad.mit.edu	37	17	36873770	36873770	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:36873770C>T	ENST00000325718.7	+	11	1828	c.1737C>T	c.(1735-1737)ctC>ctT	p.L579L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	579					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCTCCAGCCTCCTGGGGCCCC	0.652000			T	MLL	AL								9	20					0	0	0.000673	0	0
CCDC14	64770	broad.mit.edu	37	3	123666084	123666084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:123666084G>A	ENST00000485727.1	-	4	4903	c.311C>T	c.(310-312)tCa>tTa	p.S104L	CCDC14_ENST00000433542.2_Missense_Mutation_p.S263L|CCDC14_ENST00000489746.1_Missense_Mutation_p.S104L|CCDC14_ENST00000488653.2_Missense_Mutation_p.S304L|CCDC14_ENST00000310351.4_Missense_Mutation_p.S144L|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	304						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GGTATTAAATGAATTCCGTAG	0.408000													30	73					0	0	0.001512	0	0
KRT79	338785	broad.mit.edu	37	12	53216910	53216910	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53216910C>T	ENST00000330553.5	-	7	1291	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	419	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGTCCTCCTTGGCCTGGT	0.612000													13	20					0	0	0.001855	0	0
PHF14	9678	broad.mit.edu	37	7	11076227	11076227	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:11076227G>A	ENST00000403050.3	+	9	2237	c.1785G>A	c.(1783-1785)gtG>gtA	p.V595V	PHF14_ENST00000445996.2_Silent_p.V310V	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	595							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCTTTCCAGTGGACAATTCAG	0.418000													14	64					0	0	0.004007	0	0
RGR	5995	broad.mit.edu	37	10	86012759	86012759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:86012759G>A	ENST00000359452.4	+	4	555	c.517G>A	c.(517-519)Ggg>Agg	p.G173R	RGR_ENST00000358110.5_Missense_Mutation_p.G169R	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	169					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTACTCCAAGGGGGACAGGTG	0.572000													8	13					0	0	0.000673	0	0
ABCA9	10350	broad.mit.edu	37	17	66986042	66986042	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:66986042C>T	ENST00000340001.4	-	30	4078	c.3867G>A	c.(3865-3867)cgG>cgA	p.R1289R	ABCA9_ENST00000453985.2_Silent_p.R1251R|ABCA9_ENST00000370732.2_Silent_p.R1289R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1289	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATATTCCTTCCGTAGACAGC	0.378000													15	48					0	0	0.006122	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000623	45000623	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45000623G>A	ENST00000296127.3	-	2	579	c.306_splice	c.e2+1	p.P102_splice	ZDHHC3_ENST00000424952.2_Splice_Site_p.P102_splice|ZDHHC3_ENST00000342790.4_Silent_p.P102P	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	102						Golgi membrane|integral to membrane	zinc ion binding	p.P102P(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACATACTCACGGGGTCCGTCA	0.582000													42	56					0	0	0.002522	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854639	144854639	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144854639C>T	ENST00000369359.4	-	45	7277	c.7239G>A	c.(7237-7239)agG>agA	p.R2413R	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.R2171R|PDE4DIP_ENST00000369354.3_Silent_p.R2277R|PDE4DIP_ENST00000369356.4_Silent_p.R2277R|PDE4DIP_ENST00000530740.1_Silent_p.R2362R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2277					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAGAAGTTCCCTTTCTGTTG	0.483000			T	PDGFRB	MPD								25	182					0	0	0.005443	0	0
OR2L13	284521	broad.mit.edu	37	1	248262848	248262848	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248262848G>A	ENST00000366478.2	+	3	508	c.171G>A	c.(169-171)ccG>ccA	p.P57P	OR2L13_ENST00000358120.2_Silent_p.P57P	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCCACACACCGATGTACTTTC	0.517000													40	76					0	0	0.002222	0	0
VPREB1	7441	broad.mit.edu	37	22	22599239	22599239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:22599239C>T	ENST00000403807.3	+	1	153	c.14C>T	c.(13-15)cCt>cTt	p.P5L	VPREB1_ENST00000302273.2_Silent_p.L9L			P12018	VPREB_HUMAN	pre-B lymphocyte 1	5					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCCTGGGCTCCTGTCCTGCTC	0.637000													14	31					0	0	0.004990	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521580	6521580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6521580G>A	ENST00000377782.3	-	10	1262	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	TNFRSF25_ENST00000351748.3_Missense_Mutation_p.L207F|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.L345F|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.L353F|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.L390F	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	390	Death.				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)		ACGGCTCCGAGGCCCGCGGGC	0.706000													3	3					0	0	0.000248	0	0
ARPP21	10777	broad.mit.edu	37	3	35729359	35729359	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35729359C>T	ENST00000187397.4	+	6	846	c.390C>T	c.(388-390)atC>atT	p.I130I	ARPP21_ENST00000337271.5_Silent_p.I130I|ARPP21_ENST00000458225.1_Silent_p.I130I|ARPP21_ENST00000444190.1_Silent_p.I130I|ARPP21_ENST00000417925.1_Silent_p.I130I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	130						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCCAAGATCAGAATGTTAT	0.338000													28	98					0	0	0.002096	0	0
SNAP91	9892	broad.mit.edu	37	6	84292059	84292059	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84292059G>A	ENST00000428679.2	-	23	2624	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	SNAP91_ENST00000520302.1_Silent_p.F647F|SNAP91_ENST00000521485.1_Silent_p.F677F|SNAP91_ENST00000369694.2_Silent_p.F677F|SNAP91_ENST00000520213.1_Silent_p.F370F|SNAP91_ENST00000521743.1_Silent_p.F677F|SNAP91_ENST00000437520.1_Silent_p.F370F|SNAP91_ENST00000195649.6_Silent_p.F677F|SNAP91_ENST00000439399.2_Silent_p.F677F			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	677					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAGGCGCCATGAAAGAACCCC	0.418000													10	22					0	0	0.000978	0	0
ZNF124	7678	broad.mit.edu	37	1	247320008	247320008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247320008G>A	ENST00000340684.6	-	4	868	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ZNF124_ENST00000543802.2_Missense_Mutation_p.R306C|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000472531.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCATGGTCACGAAGGGAACTG	0.418000													21	39					0	0	0.003954	0	0
PEG3	5178	broad.mit.edu	37	19	57328744	57328744	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57328744T>C	ENST00000326441.9	-	10	1429	c.1066A>G	c.(1066-1068)Aag>Gag	p.K356E	PEG3_ENST00000423103.2_Missense_Mutation_p.K356E|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K232E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K230E|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	356					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)		GACTCCCTCTTGTTCAATGAA	0.468000													11	40					0	0	0.001855	0	0
OR10G2	26534	broad.mit.edu	37	14	22102966	22102966	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102966G>A	ENST00000542433.1	-	1	130	c.33C>T	c.(31-33)gcC>gcT	p.A11A		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CTGTCACCACGGCATCCAGCG	0.443000													37	76					0	0	0.002852	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264849	50264849	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:50264849G>A	ENST00000284509.6	-	13	1314	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	ATP8B4_ENST00000559829.1_Silent_p.S391S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	391					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCGTTTTGTCGGAGAAAATGT	0.433000													13	30					0	0	0.004007	0	0
MYH15	22989	broad.mit.edu	37	3	108129643	108129643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108129643G>A	ENST00000273353.3	-	32	4398	c.4342C>T	c.(4342-4344)Cgc>Tgc	p.R1448C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1448						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGCAGAGCGGACCTTCCCG	0.647000													12	28					0	0	0.002450	0	0
SNTB2	6645	broad.mit.edu	37	16	69333669	69333669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:69333669G>A	ENST00000336278.4	+	6	1560	c.1522G>A	c.(1522-1524)Gga>Aga	p.G508R	RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.G29R|VPS4A_ENST00000569775.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	508	SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		TGGTCCCGAGGGAGAACTGGT	0.423000													21	35					0	0	0.004656	0	0
MTRF1	9617	broad.mit.edu	37	13	41797443	41797443	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:41797443G>A	ENST00000379480.4	-	9	1273	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	MTRF1_ENST00000430347.2_Silent_p.T404T|MTRF1_ENST00000379477.1_Silent_p.T391T	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	391					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTCTATCCTGGGTGAAATTAT	0.363000													36	136					0	0	0.002522	0	0
ANK3	288	broad.mit.edu	37	10	61823930	61823930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:61823930C>T	ENST00000280772.1	-	39	12627	c.12436G>A	c.(12436-12438)Gga>Aga	p.G4146R	ANK3_ENST00000373827.2_Missense_Mutation_p.G1527R|ANK3_ENST00000503366.1_Missense_Mutation_p.G1534R|ANK3_ENST00000355288.2_Missense_Mutation_p.G667R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4146	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.G4146R(1)|p.G667R(1)		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						GCATTTTTTCCGTCTCTGGTA	0.299000													26	57					0	0	0.007291	0	0
PUM2	23369	broad.mit.edu	37	2	20463104	20463104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:20463104G>A	ENST00000361078.2	-	13	2097	c.2075C>T	c.(2074-2076)cCt>cTt	p.P692L	PUM2_ENST00000403432.1_Missense_Mutation_p.P692L|PUM2_ENST00000536417.1_Missense_Mutation_p.P636L|PUM2_ENST00000338086.5_Missense_Mutation_p.P692L|PUM2_ENST00000319801.5_Missense_Mutation_p.P613L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	692					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCGGGAAGGAGGAAAGAG	0.463000													10	30					0	0	0.000673	0	0
SCML2	10389	broad.mit.edu	37	X	18283762	18283762	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:18283762C>T	ENST00000251900.4	-	8	1050	c.891G>A	c.(889-891)agG>agA	p.R297R	SCML2_ENST00000398048.3_Silent_p.R33R	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	297					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAGAACTGCTCCTTTTGGGGA	0.388000													49	35					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54798247	54798247	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:54798247T>A	ENST00000474759.1	+	13	1297	c.1249T>A	c.(1249-1251)Ttt>Att	p.F417I	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F417I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F323I|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F417I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	417	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTGACAGGATTTTTTACCCA	0.478000													76	55					0	0	0.003610	0	0
RGPD4	285190	broad.mit.edu	37	2	108475875	108475875	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108475875T>A	ENST00000408999.3	+	11	1576	c.1499T>A	c.(1498-1500)tTa>tAa	p.L500*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.L500*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	500					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CACTTACAATTAAAGGAGAAA	0.338000													28	118					0	0	0.001951	0	0
TIE1	7075	broad.mit.edu	37	1	43786957	43786957	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43786957T>G	ENST00000372476.3	+	20	3204	c.3125T>G	c.(3124-3126)cTt>cGt	p.L1042R	TIE1_ENST00000433781.2_Missense_Mutation_p.L687R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1042	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAGTCCTTCTTTGGGAG	0.552000													33	75					0	0	0.007835	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845889	106845889	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:106845889G>A	ENST00000276185.4	+	16	4719	c.4719G>A	c.(4717-4719)agG>agA	p.R1573R				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1573						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGGTGAGCAGGACCCTGCAGG	0.607000													13	12					0	0	0.003163	0	0
SCN11A	11280	broad.mit.edu	37	3	38889074	38889074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:38889074G>A	ENST00000302328.3	-	26	4685	c.4487C>T	c.(4486-4488)tCt>tTt	p.S1496F	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1458F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S1496F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1496					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)	GTTGAACAGAGAAGGAAGCGA	0.468000													25	15					0	0	0.004656	0	0
UNC13B	10497	broad.mit.edu	37	9	35380572	35380572	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35380572C>T	ENST00000378495.3	+	17	2286	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	UNC13B_ENST00000378496.4_Silent_p.F688F|UNC13B_ENST00000396787.1_Silent_p.F700F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	688	C2 2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGATGATTTCCTTGGCCAAA	0.502000													36	51					0	0	0.004878	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667692	82667692	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:82667692G>A	ENST00000297265.4	+	3	649	c.456G>A	c.(454-456)cgG>cgA	p.R152R		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	152	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TTTCTCAACGGGTTGGCTTTG	0.413000													15	30					0	0	0.004990	0	0
DST	667	broad.mit.edu	37	6	56479241	56479241	+	Silent	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56479241G>T	ENST00000370754.5	-	36	4871	c.4872C>A	c.(4870-4872)gcC>gcA	p.A1624A	DST_ENST00000312431.6_Silent_p.A1446A|DST_ENST00000244364.6_Silent_p.A1120A|DST_ENST00000446842.2_Silent_p.A1120A|DST_ENST00000370769.4_Silent_p.A1446A|DST_ENST00000421834.2_Silent_p.A1446A|DST_ENST00000361203.3_Silent_p.A1446A|DST_ENST00000370788.2_Silent_p.A1446A			Q03001	DYST_HUMAN	dystonin	1446					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)			GCAATTCTTTGGCTTTTTCAA	0.363000													17	25					1.15088e-07	1.79766e-07	0.004007	1	0
GDF9	2661	broad.mit.edu	37	5	132200043	132200043	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:132200043G>A	ENST00000378673.2	-	2	1049	c.183C>T	c.(181-183)ctC>ctT	p.L61L	GDF9_ENST00000296875.2_Silent_p.L61L|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	61					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCGGGAAGGAGGCCAGCTC	0.527000													25	75					0	0	0.007291	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016171	38016171	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38016171C>T	ENST00000261439.4	+	3	814	c.459C>T	c.(457-459)atC>atT	p.I153I	TBC1D1_ENST00000508802.1_Silent_p.I153I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	153						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGGGGAAGATCGCCCGGCAGG	0.597000													15	82					0	0	0.001216	0	0
TRAV27	28655	broad.mit.edu	37	14	22616474	22616474	+	RNA	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22616474A>C	ENST00000390457.2	+	0	312																											ACGGGTGGAGAAGTGAAGAAG	0.502000													6	26					0	0	0.001168	0	0
SPC25	57405	broad.mit.edu	37	2	169728044	169728044	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169728044A>G	ENST00000282074.2	-	7	713	c.572T>C	c.(571-573)cTt>cCt	p.L191P		NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	191	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TAGGCCCTCAAGATGAGGGGC	0.348000													36	74					0	0	0.005524	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521581	6521581	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6521581G>A	ENST00000377782.3	-	10	1261	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G	TNFRSF25_ENST00000351748.3_Silent_p.G206G|TNFRSF25_ENST00000348333.3_Silent_p.G344G|TNFRSF25_ENST00000351959.5_Silent_p.G352G|TNFRSF25_ENST00000356876.3_Silent_p.G389G	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	389	Death.				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)		CGGCTCCGAGGCCCGCGGGCT	0.706000													3	3					0	0	0.000248	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149935	39149935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:39149935G>A	ENST00000297668.6	-	10	1590	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P506L|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P418L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P506L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	506	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCTCCCAGGGGGCTTTTACA	0.498000													10	33					0	0	0.000978	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452778	106452778	+	RNA	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106452778T>A	ENST00000390594.2	-	0	307																											CCCTGAAACTTCTGTGCATAG	0.562000													86	50					0	0	0.003610	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838769	31838769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31838769C>T	ENST00000544672.1	-	10	825	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	SLC44A4_ENST00000375562.4_Missense_Mutation_p.V211M|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V253M	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	253						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGCCCAGCCACCAGGCGCAGA	0.617000													34	74					0	0	0.004289	0	0
ZNF682	91120	broad.mit.edu	37	19	20118051	20118051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20118051G>A	ENST00000397165.2	-	4	420	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ZNF682_ENST00000397162.1_Missense_Mutation_p.P55L|ZNF682_ENST00000358523.5_Missense_Mutation_p.P55L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.P93L|ZNF682_ENST00000595736.1_Missense_Mutation_p.P11L|ZNF682_ENST00000593468.1_3'UTR	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GCACTGTTCTGGCAAAAGGTC	0.353000													8	33					0	0	0.004482	0	0
PIK3CG	5294	broad.mit.edu	37	7	106515219	106515219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:106515219G>A	ENST00000359195.3	+	5	2672	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	PIK3CG_ENST00000440650.2_Missense_Mutation_p.D788N|PIK3CG_ENST00000496166.1_Missense_Mutation_p.D788N	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	788					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGTTCCATATGATCCTGGACT	0.433000													14	32					0	0	0.004007	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453035	110453035	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:110453035G>A	ENST00000378402.5	+	33	4157	c.4053G>A	c.(4051-4053)agG>agA	p.R1351R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1351	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCACCATAAGGGGTTTTGGAT	0.378000										HNSCC(38;0.096)			45	108					0	0	0.003610	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475701	52475701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475701C>T	ENST00000231721.2	-	6	555	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	186	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTGTACAGCTCCCCGTCTGGG	0.657000													13	18					0	0	0.001855	0	0
OR52J3	119679	broad.mit.edu	37	11	5068607	5068607	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5068607C>T	ENST00000380370.1	+	1	852	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTTGATTATCCCACCCTCTC	0.383000													28	55					0	0	0.007291	0	0
C10orf68	79741	broad.mit.edu	37	10	32978001	32978001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32978001G>A	ENST00000375030.2	+	8	817	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	C10orf68_ENST00000375028.3_Missense_Mutation_p.E73K|C10orf68_ENST00000375025.4_Missense_Mutation_p.E59K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	59										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGAACCAAATGAAAATCTTAT	0.308000													13	49					0	0	0.001855	0	0
KDM5B	10765	broad.mit.edu	37	1	202710703	202710703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:202710703G>A	ENST00000367265.3	-	19	3901	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R949C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	913					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGTTCCAAACGGATACGCATC	0.502000													14	25					0	0	0.001855	0	0
DPYS	1807	broad.mit.edu	37	8	105456639	105456639	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:105456639C>T	ENST00000351513.2	-	4	762	c.630G>A	c.(628-630)ggG>ggA	p.G210G		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	210					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCTGTTATCCCCAGAGCCA	0.502000													8	29					0	0	0.004482	0	0
IQCD	115811	broad.mit.edu	37	12	113645520	113645520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113645520G>A	ENST00000546692.1	-	2	825	c.452C>T	c.(451-453)tCc>tTc	p.S151F	IQCD_ENST00000416617.2_Missense_Mutation_p.S151F|IQCD_ENST00000299732.2_Missense_Mutation_p.S151F			Q96DY2	IQCD_HUMAN	IQ motif containing D	151										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GTTCTTGGTGGAGTCTTTGAT	0.527000													42	91					0	0	0.003214	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926726	157926726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:157926726C>T	ENST00000389413.3	-	9	1302	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	PTPRN2_ENST00000404321.2_Missense_Mutation_p.G423E|PTPRN2_ENST00000389416.4_Missense_Mutation_p.G383E|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G400E|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G362E	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	400						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)		CAGGAGGCCCCCGAGTGTGGC	0.597000													18	24					0	0	0.006122	0	0
CCL23	6368	broad.mit.edu	37	17	34340867	34340867	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:34340867G>A	ENST00000293280.2	-	3	289	c.219C>T	c.(217-219)atC>atT	p.I73I	CCL23_ENST00000591423.1_Silent_p.I56I	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	56					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GGGTGTAGGAGATGCAGCAGT	0.537000													10	21					0	0	0.000673	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617555	111617555	+	Missense_Mutation	SNP	G	G	A	rs146541685		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111617555G>A	ENST00000374667.3	-	1	1684	c.656C>T	c.(655-657)aCc>aTc	p.T219I		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	219						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCGCGGCTGGTCAGGCCCGG	0.652000													10	26					0	0	0.000673	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838107	92838107	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92838107G>A	ENST00000394468.2	-	4	875	c.798C>T	c.(796-798)atC>atT	p.I266I	HEPACAM2_ENST00000440868.1_Silent_p.I254I|HEPACAM2_ENST00000341723.4_Silent_p.I254I|HEPACAM2_ENST00000453812.2_Silent_p.I289I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	266	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AATCAAATAGGATGGCCTCTC	0.418000													12	57					0	0	0.001855	0	0
XKR4	114786	broad.mit.edu	37	8	56436118	56436118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:56436118G>A	ENST00000327381.5	+	3	1385	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	429						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CACCAAATGGGAAGAGATTGT	0.448000													47	115					0	0	0.003610	0	0
CYB5R2	51700	broad.mit.edu	37	11	7690543	7690543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:7690543G>A	ENST00000533558.1	-	5	837	c.281C>T	c.(280-282)cCc>cTc	p.P94L	CYB5R2_ENST00000524790.1_Missense_Mutation_p.P94L|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Missense_Mutation_p.P94L|CYB5R2_ENST00000299498.6_Missense_Mutation_p.P94L			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	94	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATATTGGGGGTGTACATT	0.443000													31	73					0	0	0.003755	0	0
ZEB1	6935	broad.mit.edu	37	10	31810669	31810669	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:31810669C>T	ENST00000446923.2	+	7	2749	c.2358C>T	c.(2356-2358)atC>atT	p.I786I	ZEB1_ENST00000320985.10_Silent_p.I802I|ZEB1_ENST00000361642.5_Silent_p.I803I|ZEB1_ENST00000542815.3_Silent_p.I735I|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.I782I	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	802					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CCATAAATATCGCTATACCTA	0.463000													17	43					0	0	0.004990	0	0
OR51B2	79345	broad.mit.edu	37	11	5345020	5345020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5345020G>A	ENST00000328813.2	-	1	562	c.508C>T	c.(508-510)Cat>Tat	p.H170Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGATAACATGAGATTTGCAA	0.388000													16	42					0	0	0.003163	0	0
DAK	26007	broad.mit.edu	37	11	61106612	61106612	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:61106612C>T	ENST00000394900.3	+	4	497	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	90	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGGCAGCATCCTGGCAGCCAT	0.657000													18	32					0	0	0.001216	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163498	42163498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:42163498G>A	ENST00000444063.1	+	13	1603	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.D559N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.D559N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.D491N|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.D491N			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	491					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCATGGCTATGATTTCTGGAT	0.592000													7	14					0	0	0.000673	0	0
FUT9	10690	broad.mit.edu	37	6	96651530	96651530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:96651530C>T	ENST00000302103.5	+	3	825	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	167					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TATCCAAGTGCCTTATGGCTT	0.463000													10	31					0	0	0.000673	0	0
MTMR14	64419	broad.mit.edu	37	3	9719716	9719716	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:9719716C>T	ENST00000296003.4	+	9	993	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.L291L|MTMR14_ENST00000353332.5_Silent_p.L291L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	291						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTCACTCTCTGAACATTGA	0.557000													31	24					0	0	0.004289	0	0
IPO5	3843	broad.mit.edu	37	13	98673250	98673250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:98673250C>T	ENST00000261574.5	+	28	3304	c.3124C>T	c.(3124-3126)Cat>Tat	p.H1042Y	IPO5_ENST00000539640.1_Missense_Mutation_p.H899Y|IPO5_ENST00000490680.1_Missense_Mutation_p.H1024Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1024					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGTCAGTAATCATCCAATTGT	0.333000													39	55					0	0	0.001951	0	0
SEMA5A	9037	broad.mit.edu	37	5	9051999	9051999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9051999G>A	ENST00000382496.5	-	20	3496	c.2831C>T	c.(2830-2832)tCt>tTt	p.S944F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	944	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GATGAAATTAGAGTCAAACAC	0.498000													15	37					0	0	0.003163	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													7	6					0	0	0.003080	0	0
DCTN2	10540	broad.mit.edu	37	12	57939822	57939822	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57939822C>G	ENST00000548249.1	-	2	361	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	DCTN2_ENST00000543672.1_Missense_Mutation_p.E32Q|DCTN2_ENST00000434715.3_Missense_Mutation_p.E32Q	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	32					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GCATCGAACTCCGCTTGATCA	0.537000													18	52					0	0	0.007413	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2583502	2583502	+	Silent	SNP	G	G	A	rs141525497		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:2583502G>A	ENST00000397195.5	+	10	1498	c.1047G>A	c.(1045-1047)ggG>ggA	p.G349G	PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.G144G	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	349	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TCCATTCTGGGGGGAAGTTTA	0.408000													32	124					0	0	0.004289	0	0
RAI1	10743	broad.mit.edu	37	17	17700174	17700174	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17700174C>T	ENST00000353383.1	+	3	4381	c.3912C>T	c.(3910-3912)ctC>ctT	p.L1304L	RAI1_ENST00000261641.6_Silent_p.L1304L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1304						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCTCAAGCTCGCCTCTCGGG	0.642000													14	54					0	0	0.001855	0	0
ABCB11	8647	broad.mit.edu	37	2	169828372	169828372	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:169828372G>A	ENST00000263817.6	-	14	1747	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	541	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)	GCAGGTCCATGATGAAGTTGT	0.438000													19	79					0	0	0.001216	0	0
C6orf25	80739	broad.mit.edu	37	6	31691456	31691456	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31691456C>T	ENST00000375809.3	+	2	113	c.102C>T	c.(100-102)tcC>tcT	p.S34S	C6orf25_ENST00000375810.4_Silent_p.S34S|C6orf25_ENST00000375805.2_Silent_p.S34S|C6orf25_ENST00000480039.1_Silent_p.S34S	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	34						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGAATCTCTCCTGCGGAGGAG	0.662000													36	112					0	0	0.006999	0	0
IL36B	27177	broad.mit.edu	37	2	113785619	113785619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113785619C>T	ENST00000327407.2	-	5	442	c.335G>A	c.(334-336)gGc>gAc	p.G112D	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	58					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGAAGTGGAGCCTTCTTTATT	0.468000													13	44					0	0	0.001855	0	0
ZNF682	91120	broad.mit.edu	37	19	20117309	20117309	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:20117309G>A	ENST00000397165.2	-	4	1162	c.1002C>T	c.(1000-1002)acC>acT	p.T334T	ZNF682_ENST00000397162.1_Silent_p.T302T|ZNF682_ENST00000358523.5_Silent_p.T302T|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Silent_p.T340T|ZNF682_ENST00000595736.1_Silent_p.T258T	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CTCCCGTATGGGTTCTCTCAT	0.378000													12	45					0	0	0.002450	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661471	21661471	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:21661471T>G	ENST00000229314.5	+	3	381	c.272T>G	c.(271-273)aTt>aGt	p.I91S	GOLT1B_ENST00000542038.1_Missense_Mutation_p.I27S|GOLT1B_ENST00000540141.1_Missense_Mutation_p.I91S|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B	91	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						ATCTTCGAAATTTATGGATTT	0.338000													21	65					0	0	0.002299	0	0
FOXL1	2300	broad.mit.edu	37	16	86612503	86612503	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:86612503C>T	ENST00000320241.3	+	1	389	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	58					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						TCGCGCTCATCGCCATGGCGA	0.677000													12	31					0	0	0.000978	0	0
GTDC1	79712	broad.mit.edu	37	2	144764854	144764854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:144764854G>A	ENST00000409214.1	-	7	1048	c.770C>T	c.(769-771)tCt>tTt	p.S257F	GTDC1_ENST00000392869.1_Missense_Mutation_p.S257F|GTDC1_ENST00000344850.4_Missense_Mutation_p.S257F|GTDC1_ENST00000542155.1_Missense_Mutation_p.S257F|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.S257F|GTDC1_ENST00000463875.2_Missense_Mutation_p.S128F|GTDC1_ENST00000392867.3_Missense_Mutation_p.S257F	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	257					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ACCATGATGAGAGCTTGAATT	0.408000													25	36					0	0	0.003330	0	0
ZNF646	9726	broad.mit.edu	37	16	31088499	31088499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31088499C>T	ENST00000394979.2	+	1	1277	c.854C>T	c.(853-855)tCt>tTt	p.S285F	ZNF646_ENST00000300850.5_Missense_Mutation_p.S285F			O15015	ZN646_HUMAN	zinc finger protein 646	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AAGAACCACTCTCGACTGCAT	0.612000													6	24					0	0	0.001984	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142247212C>T	ENST00000390361.3	-	0	293																											AAGAACCGATCGTTGGGCAGC	0.572000													39	25					0	0	0.005524	0	0
ADARB2	105	broad.mit.edu	37	10	1405873	1405873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:1405873G>A	ENST00000381312.1	-	3	752	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	143	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GACACTGTCCGGTACTGCAGG	0.657000													17	15					0	0	0.006122	0	0
SLTM	79811	broad.mit.edu	37	15	59180636	59180636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59180636C>T	ENST00000380516.2	-	17	2410	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	SLTM_ENST00000536328.1_Missense_Mutation_p.E344K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	775	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCCCCTCTCTCGGTGATCA	0.403000													41	39					0	0	0.003610	0	0
RALB	5899	broad.mit.edu	37	2	121047197	121047197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:121047197C>T	ENST00000272519.5	+	4	635	c.365C>T	c.(364-366)cCa>cTa	p.P122L	RALB_ENST00000420510.1_Missense_Mutation_p.P122L|RALB_ENST00000474855.2_Missense_Mutation_p.P144L|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.P143L	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	122					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GATAAAATTCCACTGCTCGTC	0.498000													38	89					0	0	0.006999	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328868	6328868	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:6328868A>G	ENST00000344545.5	+	1	520	c.273A>G	c.(271-273)aaA>aaG	p.K91K	TPD52L3_ENST00000381428.1_Silent_p.K91K|TPD52L3_ENST00000314556.3_Silent_p.K91K	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	91							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CCTATGTGAAACAGAAGACAT	0.517000													21	32					0	0	0.001882	0	0
SDC4	6385	broad.mit.edu	37	20	43956024	43956024	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43956024G>A	ENST00000372733.3	-	5	516	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SDC4_ENST00000537976.1_Silent_p.L87L	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	159						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AGACGGCAAAGAGGATGCCCA	0.537000			T	ROS1	NSCLC								15	19					0	0	0.003163	0	0
PTPRD	5789	broad.mit.edu	37	9	8484171	8484171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:8484171C>T	ENST00000381196.4	-	27	3904	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	PTPRD_ENST00000355233.5_Missense_Mutation_p.D710N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D700N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D707N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D707N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D700N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1099N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1121N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1108N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D710N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1121N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1121					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)		ATCATGCCATCCAAGTTGGTC	0.458000										TSP Lung(15;0.13)			39	67					0	0	0.007835	0	0
ALG2	85365	broad.mit.edu	37	9	101981082	101981082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:101981082G>A	ENST00000476832.1	-	2	446	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ALG2_ENST00000319033.6_Missense_Mutation_p.R36W	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TTCTTCCGCCGTCTAGCCAGC	0.448000													18	63					0	0	0.007413	0	0
IL18R1	8809	broad.mit.edu	37	2	103010932	103010932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103010932G>A	ENST00000409599.1	+	11	1471	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	IL18R1_ENST00000233957.1_Missense_Mutation_p.G372E			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	372					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCTAGATGGAAAAACATAT	0.358000													16	27					0	0	0.007413	0	0
RORC	6097	broad.mit.edu	37	1	151804237	151804237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151804237C>T	ENST00000318247.6	-	1	111	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	2	Modulating (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGGCCCTGTCCATGGGGCAG	0.697000													24	54					0	0	0.006320	0	0
PRPF6	24148	broad.mit.edu	37	20	62626388	62626388	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62626388C>T	ENST00000535781.1	+	5	669	c.558C>T	c.(556-558)ttC>ttT	p.F186F	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	186					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CTGACAGTTTCTTTGCCAAAC	0.512000													34	42					0	0	0.004878	0	0
SYDE1	85360	broad.mit.edu	37	19	15222495	15222495	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15222495C>T	ENST00000600252.1	+	3	2083	c.441C>T	c.(439-441)ccC>ccT	p.P147P	SYDE1_ENST00000600440.1_Silent_p.P423P|SYDE1_ENST00000342784.2_Silent_p.P490P			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	490	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCACCCAGCCCCTGTATAAGG	0.617000													21	27					0	0	0.001523	0	0
ATP1A2	477	broad.mit.edu	37	1	160093166	160093166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160093166G>A	ENST00000361216.3	+	4	430	c.341G>A	c.(340-342)gGc>gAc	p.G114D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.G114D|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	114					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGGCCTACGGCATCCAGGCT	0.612000													39	82					0	0	0.002852	0	0
MYOC	4653	broad.mit.edu	37	1	171605338	171605338	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605338T>C	ENST00000037502.5	-	3	1301	c.1242A>G	c.(1240-1242)gaA>gaG	p.E414E		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CCCAGGTTTGTTCGAGTTCCA	0.522000													45	63					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156589605	156589605	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:156589605C>T	ENST00000302938.4	-	2	1766	c.1671G>A	c.(1669-1671)gaG>gaA	p.E557E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	557						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)			CGATATCTACCTCTCTGTCAT	0.483000													237	419					0	0	0.003610	0	0
UPK2	7379	broad.mit.edu	37	11	118827130	118827130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:118827130G>A	ENST00000264031.2	+	1	105	c.70G>A	c.(70-72)Gct>Act	p.A24T	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	24					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GTCCCCAGGGGCTGCAGGTCT	0.637000													11	29					0	0	0.001855	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586623	1586623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:1586623C>T	ENST00000297477.5	-	9	1523	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	403						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		ATCCGCTTCTCCAGGCTCCGG	0.716000													14	16					0	0	0.003163	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													13	37					0	0	0.001855	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256468	15256468	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15256468G>A	ENST00000378116.4	-	8	1125	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	373						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGGGCCAGGGAATTCTGACG	0.592000													13	39					0	0	0.002450	0	0
DTX1	1840	broad.mit.edu	37	12	113534574	113534574	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113534574A>C	ENST00000257600.3	+	9	2196	c.1693A>C	c.(1693-1695)Acg>Ccg	p.T565P	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	565					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACTATCGGCACGTCCAACAC	0.642000													8	21					0	0	0.003080	0	0
MANEAL	149175	broad.mit.edu	37	1	38265299	38265299	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:38265299C>T	ENST00000373045.6	+	4	1179	c.798C>T	c.(796-798)ctC>ctT	p.L266L	MANEAL_ENST00000525897.1_Silent_p.L72L|MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Silent_p.L44L	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	266						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCTCCCACTCTTTTATATCT	0.557000													31	74					0	0	0.003271	0	0
PTBP1	5725	broad.mit.edu	37	19	808653	808653	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:808653C>T	ENST00000356948.6	+	13	1777	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	PTBP1_ENST00000394601.4_Silent_p.L445L|PTBP1_ENST00000350092.4_Silent_p.L92L|PTBP1_ENST00000349038.4_Silent_p.L426L	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	426					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGACCAGGGCCTGACCAAGGA	0.642000													6	13					0	0	0.003080	0	0
IL1A	3552	broad.mit.edu	37	2	113535625	113535625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113535625C>T	ENST00000263339.3	-	6	709	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	185					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TTTTGAGATTCTTAGAATCAC	0.373000													18	50					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179457531	179457531	+	Missense_Mutation	SNP	G	G	A	rs72646840	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179457531G>A	ENST00000589042.1	-	300	59539	c.59315C>T	c.(59314-59316)cCg>cTg	p.P19772L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18131L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10707L|TTN_ENST00000342175.6_Missense_Mutation_p.P10899L|TTN_ENST00000342992.6_Missense_Mutation_p.P17204L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10832L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18131	Fibronectin type-III 43.						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)			GACTGGCTCCGGAACATGAGC	0.408000													36	89					0	0	0.006230	0	0
EYA4	2070	broad.mit.edu	37	6	133767836	133767836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:133767836C>T	ENST00000367895.5	+	4	616	c.152C>T	c.(151-153)tCc>tTc	p.S51F	EYA4_ENST00000355286.6_Missense_Mutation_p.S51F|EYA4_ENST00000525849.1_Missense_Mutation_p.S51F|EYA4_ENST00000431403.2_Missense_Mutation_p.S51F|EYA4_ENST00000531901.1_Missense_Mutation_p.S51F|EYA4_ENST00000355167.3_Missense_Mutation_p.S51F|EYA4_ENST00000430974.2_Missense_Mutation_p.S51F|EYA4_ENST00000452339.2_Missense_Mutation_p.S51F	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	51					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGGTAGCTCCAAACTGGAA	0.438000													14	38					0	0	0.001855	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140973	143140973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143140973G>A	ENST00000332690.1	+	1	428	c.428G>A	c.(427-429)tGg>tAg	p.W143*	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	143					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)					TGGCTACCATGGATGCTCTTC	0.453000													53	87					0	0	0.003610	0	0
KLK1	3816	broad.mit.edu	37	19	51323580	51323580	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51323580T>G	ENST00000448701.2	-	4	1344	c.20A>C	c.(19-21)cAc>cCc	p.H7P	KLK1_ENST00000301420.2_Missense_Mutation_p.H109P			P06870	KLK1_HUMAN	kallikrein 1	109					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGCGGGTGTGGTTCTCCAG	0.557000													43	88					0	0	0.002852	0	0
LHX4	89884	broad.mit.edu	37	1	180243580	180243580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:180243580G>A	ENST00000263726.2	+	6	1283	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGCAGGGCAGGGAGTAAGCCA	0.572000													25	134					0	0	0.003954	0	0
NPAP1	23742	broad.mit.edu	37	15	24921999	24921999	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921999A>T	ENST00000329468.2	+	1	1459	c.985A>T	c.(985-987)Aaa>Taa	p.K329*		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTGCAAAAGGAAAATGTCGAT	0.582000													6	30					0	0	0.001168	0	0
COL11A1	1301	broad.mit.edu	37	1	103467507	103467507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:103467507C>T	ENST00000358392.2	-	24	2469	c.2152G>A	c.(2152-2154)Ggt>Agt	p.G718S	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.G590S|COL11A1_ENST00000370096.3_Missense_Mutation_p.G706S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G667S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	706	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAATTGGACCTTGTGGACCA	0.348000													19	63					0	0	0.002299	0	0
SPRR3	6707	broad.mit.edu	37	1	152975848	152975848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152975848C>T	ENST00000331860.3	+	3	502	c.352C>T	c.(352-354)Cct>Tct	p.P118S	SPRR3_ENST00000295367.4_Missense_Mutation_p.P118S|SPRR3_ENST00000542696.1_Missense_Mutation_p.P110S	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	118	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAGGTCCCTGACCAAGG	0.557000													11	28					0	0	0.000978	0	0
C10orf128	170371	broad.mit.edu	37	10	50396379	50396379	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:50396379C>T	ENST00000374148.1	-	1	57	c.3G>A	c.(1-3)atG>atA	p.M1I	C10orf128_ENST00000474718.1_Start_Codon_SNP_p.M1I|C10orf128_ENST00000374153.2_Start_Codon_SNP_p.M1I|C10orf128_ENST00000374151.3_Start_Codon_SNP_p.M1I|C10orf128_ENST00000470884.1_5'UTR			Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	1						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CCCCCAAGTTCATGCTGGCGC	0.647000													9	16					0	0	0.000673	0	0
SPTB	6710	broad.mit.edu	37	14	65262154	65262154	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:65262154C>T	ENST00000389722.3	-	11	1598	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	SPTB_ENST00000542895.1_Silent_p.E515E|SPTB_ENST00000389720.3_Silent_p.E515E|SPTB_ENST00000389721.5_Silent_p.E515E|SPTB_ENST00000556626.1_Silent_p.E515E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	515					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCAGCAGCTCCTGCAGGT	0.587000													17	41					0	0	0.004990	0	0
LIPF	8513	broad.mit.edu	37	10	90428403	90428403	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90428403C>T	ENST00000394375.3	+	5	455	c.342C>T	c.(340-342)ttC>ttT	p.F114F	LIPF_ENST00000238983.4_Silent_p.F104F|LIPF_ENST00000355843.2_Intron	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	104					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCCTTGCCTTCATTCTGGCAG	0.473000													16	45					0	0	0.004007	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007718	193007718	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:193007718G>A	ENST00000342358.4	-	26	3096	c.2979C>T	c.(2977-2979)ctC>ctT	p.L993L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCTTCACATAGAGAAATGCAC	0.398000													17	45					0	0	0.001523	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390546	52390546	+	RNA	SNP	C	C	T	rs142609014	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:52390546C>T	ENST00000443374.1	+	0	1239																											CACTCCTGATCGTAAGTTTCC	0.438000													9	17					0	0	0.004482	0	0
FETUB	26998	broad.mit.edu	37	3	186370176	186370176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:186370176G>A	ENST00000265029.3	+	7	1006	c.905G>A	c.(904-906)gGa>gAa	p.G302E	RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Missense_Mutation_p.G302E|FETUB_ENST00000382136.3_Missense_Mutation_p.G265E|FETUB_ENST00000539949.1_Missense_Mutation_p.G154E|FETUB_ENST00000382134.3_Missense_Mutation_p.G237E	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	302						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GGGCCAAGAGGATCTGTCCAA	0.512000													25	76					0	0	0.003954	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508310	37508310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:37508310C>T	ENST00000374660.1	+	40	3958	c.3859C>T	c.(3859-3861)Cac>Tac	p.H1287Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1168Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1168Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1224						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACCTGCTTTCCACATTGCAGG	0.398000													15	43					0	0	0.004007	0	0
KATNB1	10300	broad.mit.edu	37	16	57775606	57775606	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57775606C>T	ENST00000379661.3	+	3	440	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	16	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				TAGAAGAGATCGTCGCGCATG	0.652000													8	32					0	0	0.006214	0	0
MIR296	407022	broad.mit.edu	37	20	57392737	57392737	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57392737C>T	ENST00000385215.1	-	0	12					NR_029844.1																						GGGGGGCCCTCTGGAAGGGTC	0.587000													15	18					0	0	0.004007	0	0
HOXC5	3222	broad.mit.edu	37	12	54427174	54427174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:54427174G>A	ENST00000312492.2	+	1	538	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	HOXC5_ENST00000512206.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	90					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGGCAGAGACGAAGCGGCTCC	0.701000													11	12					0	0	0.000673	0	0
ERC2	26059	broad.mit.edu	37	3	56330372	56330372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56330372C>T	ENST00000288221.6	-	3	1004	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	250						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTGCTCCGCTCCTCGGTTGCC	0.557000													96	45					0	0	0.003610	0	0
VPS13B	157680	broad.mit.edu	37	8	100654161	100654161	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:100654161G>A	ENST00000358544.2	+	34	5529	c.5418G>A	c.(5416-5418)gtG>gtA	p.V1806V	VPS13B_ENST00000357162.2_Silent_p.V1781V|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1806					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAGAATAGTGCAAATAGAGC	0.433000													21	36					0	0	0.002299	0	0
LRP10	26020	broad.mit.edu	37	14	23346497	23346497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:23346497C>T	ENST00000359591.4	+	7	2594	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	635	Pro-rich.				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)		CACTACTGTCCCTGAAGCCCC	0.682000													15	54					0	0	0.004990	0	0
NRXN2	9379	broad.mit.edu	37	11	64457898	64457898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:64457898C>T	ENST00000265459.6	-	5	1290	c.829G>A	c.(829-831)Gat>Aat	p.D277N	NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000409571.1_Missense_Mutation_p.D277N|NRXN2_ENST00000377551.1_Missense_Mutation_p.D277N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	277					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGTGCACATCGCCGGCTCCT	0.632000													10	14					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179434595	179434595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179434595C>T	ENST00000589042.1	-	326	76488	c.76264G>A	c.(76264-76266)Gta>Ata	p.V25422I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23781I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16357I|TTN_ENST00000342175.6_Missense_Mutation_p.V16549I|TTN_ENST00000342992.6_Missense_Mutation_p.V22854I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16482I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23781	Fibronectin type-III 84.						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)			GAAAGGAATACTGAAGATCTG	0.408000													20	59					0	0	0.002299	0	0
PGK2	5232	broad.mit.edu	37	6	49754671	49754671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754671G>A	ENST00000304801.3	-	1	382	c.230C>T	c.(229-231)tCc>tTc	p.S77F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	77					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)					AGGTGCTAAGGAATATTTGTC	0.502000													31	51					0	0	0.002445	0	0
PCDH18	54510	broad.mit.edu	37	4	138452154	138452154	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138452154T>A	ENST00000344876.4	-	1	1475	c.1089A>T	c.(1087-1089)aaA>aaT	p.K363N	PCDH18_ENST00000507846.1_Missense_Mutation_p.K143N|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.K363N|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	363	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATATTTCTTCTTTTCCAGGGG	0.358000													12	22					0	0	0.001368	0	0
TLE4	7091	broad.mit.edu	37	9	82333708	82333708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:82333708G>A	ENST00000376520.4	+	16	2336	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	TLE4_ENST00000376544.3_Missense_Mutation_p.G402E|TLE4_ENST00000265284.6_Missense_Mutation_p.G446E|TLE4_ENST00000376552.2_Missense_Mutation_p.G471E|TLE4_ENST00000376537.4_Missense_Mutation_p.G503E|TLE4_ENST00000376534.4_Missense_Mutation_p.G108E			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCCCTCATCGGACCTGGAATC	0.572000													20	44					0	0	0.001882	0	0
RSPH4A	345895	broad.mit.edu	37	6	116943958	116943958	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:116943958C>T	ENST00000229554.5	+	2	851	c.714C>T	c.(712-714)acC>acT	p.T238T	RSPH4A_ENST00000368581.4_Silent_p.T238T|RSPH4A_ENST00000368580.4_Silent_p.T238T	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	238					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATATGTTGACCAAGATATTAA	0.308000									Kartagener syndrome				30	101					0	0	0.001786	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693177	69693177	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:69693177G>A	ENST00000265403.7	+	5	1245	c.1218G>A	c.(1216-1218)aaG>aaA	p.K406K	UGT2B10_ENST00000458688.2_Silent_p.K322K	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	406					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CTCACATGAAGGCCAAGGGAG	0.448000													25	156					0	0	0.003954	0	0
OR4N5	390437	broad.mit.edu	37	14	20612398	20612398	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20612398C>T	ENST00000333629.1	+	1	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGCCTTTCTGTGGCCCAA	0.493000													36	71					0	0	0.005524	0	0
SPATA16	83893	broad.mit.edu	37	3	172834923	172834923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:172834923C>T	ENST00000351008.3	-	2	782	c.599G>A	c.(598-600)aGa>aAa	p.R200K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	200					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGTGCTGTTCTGAACTGTCC	0.423000													41	90					0	0	0.003610	0	0
GCNT3	9245	broad.mit.edu	37	15	59911232	59911232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:59911232G>A	ENST00000396065.1	+	3	1243	c.795G>A	c.(793-795)tgG>tgA	p.W265*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.W265*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	265					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAACCCGCTGGAAATATCACT	0.433000													66	135					0	0	0.003610	0	0
FER1L5	90342	broad.mit.edu	37	2	97369995	97369995	+	RNA	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97369995A>T	ENST00000457909.1	+	0	5348							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						ACCAGTTCAAAACTTCTGCTA	0.453000													13	39					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82785054	82785054	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82785054T>C	ENST00000423517.2	-	2	1240	c.903A>G	c.(901-903)ccA>ccG	p.P301P	PCLO_ENST00000333891.8_Silent_p.P301P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	300	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						GTGGTTTGGATGGGCTTGGCA	0.517000													9	37					0	0	0.000978	0	0
FREM2	341640	broad.mit.edu	37	13	39453102	39453102	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:39453102A>G	ENST00000280481.7	+	23	9210	c.8994A>G	c.(8992-8994)acA>acG	p.T2998T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2998					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCGACTCAACACCACTCTTTC	0.403000													10	49					0	0	0.000673	0	0
LCN1	3933	broad.mit.edu	37	9	138416719	138416719	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138416719G>A	ENST00000263598.2	+	5	507	c.447G>A	c.(445-447)gaG>gaA	p.E149E	LCN1_ENST00000371781.3_Silent_p.E149E	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	149					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGACTTTGAGAAAGCCGCAG	0.662000													3	9					0	0	0.004672	0	0
FBN3	84467	broad.mit.edu	37	19	8188881	8188881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8188881C>T	ENST00000600128.1	-	23	3157	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	FBN3_ENST00000270509.2_Missense_Mutation_p.E915K|FBN3_ENST00000601739.1_Missense_Mutation_p.E915K			Q75N90	FBN3_HUMAN	fibrillin 3	915	TB 5.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACATGGTTCCAATCTCACA	0.632000													3	8					0	0	0.000602	0	0
EMR1	2015	broad.mit.edu	37	19	6903930	6903930	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6903930G>A	ENST00000312053.4	+	7	808	c.771G>A	c.(769-771)ttG>ttA	p.L257L	EMR1_ENST00000381407.5_Silent_p.L116L|EMR1_ENST00000250572.8_Silent_p.L257L|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.L205L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	257	EGF-like 5; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGGACAGTTGAATTTCACAG	0.453000													24	33					0	0	0.003330	0	0
RYR2	6262	broad.mit.edu	37	1	237780633	237780633	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:237780633G>A	ENST00000366574.2	+	38	6080	c.5763G>A	c.(5761-5763)cgG>cgA	p.R1921R	RYR2_ENST00000542537.1_Silent_p.R1905R|RYR2_ENST00000360064.6_Silent_p.R1919R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1921	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCGGCACCGGATAGAAGCCA	0.413000													10	22					0	0	0.000978	0	0
RGS3	5998	broad.mit.edu	37	9	116345827	116345827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:116345827C>T	ENST00000374140.2	+	21	2344	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	RGS3_ENST00000462143.1_Missense_Mutation_p.P33L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.P712L|RGS3_ENST00000374134.3_Missense_Mutation_p.P33L|RGS3_ENST00000343817.5_Missense_Mutation_p.P431L|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000394646.3_Intron	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	712	Pro-rich.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCCCTCTCCTGGCCAGGAG	0.607000													19	34					0	0	0.001216	0	0
HIP1	3092	broad.mit.edu	37	7	75178288	75178288	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:75178288G>A	ENST00000336926.6	-	23	2333	c.2307C>T	c.(2305-2307)ccC>ccT	p.P769P	HIP1_ENST00000434438.2_Silent_p.P769P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	769					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGTCCCCTGGGCAGGAGCT	0.567000			T	PDGFRB	CMML								25	81					0	0	0.003954	0	0
DSG1	1828	broad.mit.edu	37	18	28911801	28911801	+	Nonsense_Mutation	SNP	C	C	T	rs145081747		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:28911801C>T	ENST00000257192.4	+	6	867	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	219	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGAAATTCGAACGATGAA	0.328000													31	74					0	0	0.002836	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138696	126138696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:126138696G>A	ENST00000299308.3	+	9	2685	c.2677G>A	c.(2677-2679)Ggg>Agg	p.G893R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G405R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	893						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)		GACCTCAAGGGGGCTAACGGA	0.512000													33	40					0	0	0.002096	0	0
EPHX2	2053	broad.mit.edu	37	8	27396186	27396186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27396186C>T	ENST00000521400.1	+	14	1683	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	EPHX2_ENST00000518379.1_Missense_Mutation_p.S386F|EPHX2_ENST00000521780.1_Missense_Mutation_p.S352F|EPHX2_ENST00000380476.3_Missense_Mutation_p.S365F|EPHX2_ENST00000517536.1_Missense_Mutation_p.S235F	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	418	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.S418Y(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	AGTGTTTTATCCATGCATAAA	0.408000													10	20					0	0	0.001855	0	0
TEP1	7011	broad.mit.edu	37	14	20846376	20846376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20846376G>A	ENST00000262715.5	-	39	5568	c.5528C>T	c.(5527-5529)gCc>gTc	p.A1843V	TEP1_ENST00000545983.1_Missense_Mutation_p.A181V|TEP1_ENST00000556935.1_Missense_Mutation_p.A1735V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1843					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGGATAGAGGCTCCGGGTGC	0.597000													20	34					0	0	0.001882	0	0
ATR	545	broad.mit.edu	37	3	142253975	142253975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:142253975C>T	ENST00000350721.4	-	21	4013	c.3892G>A	c.(3892-3894)Gat>Aat	p.D1298N	ATR_ENST00000383101.3_Missense_Mutation_p.D1234N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1298					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACGAACATCGACATTTTCA	0.358000								Other conserved DNA damage response genes					23	76					0	0	0.006320	0	0
OR52E6	390078	broad.mit.edu	37	11	5862608	5862608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5862608G>A	ENST00000329322.5	-	1	519	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	OR52E6_ENST00000379946.2_Missense_Mutation_p.R178C|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R178C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATGATACGATGTCCACAG	0.478000													33	72					0	0	0.003271	0	0
ZNF205	7755	broad.mit.edu	37	16	3170014	3170014	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3170014C>T	ENST00000382192.3	+	7	1558	c.1353C>T	c.(1351-1353)ccC>ccT	p.P451P	ZNF205_ENST00000219091.4_Silent_p.P451P|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ATCCGTGCCCCGAGTGCGGCA	0.642000													14	28					0	0	0.001855	0	0
PAPPA	5069	broad.mit.edu	37	9	119065205	119065205	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:119065205C>T	ENST00000328252.3	+	10	3492	c.3123C>T	c.(3121-3123)atC>atT	p.I1041I	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.I79I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1041					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTGGGTCATCATCGGACAGC	0.532000													17	33					0	0	0.001216	0	0
CACNA1E	777	broad.mit.edu	37	1	181727961	181727961	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181727961T>A	ENST00000526775.1	+	31	4670	c.4505T>A	c.(4504-4506)tTt>tAt	p.F1502Y	CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1521Y|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1521Y|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F1128Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1502Y|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1453Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1472Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1521					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						ACCATGGTGTTTTCCCTGGAA	0.473000													25	69					0	0	0.001512	0	0
GLRA2	2742	broad.mit.edu	37	X	14748587	14748587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:14748587G>A	ENST00000218075.4	+	9	1869	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	GLRA2_ENST00000355020.4_Missense_Mutation_p.E447K|GLRA2_ENST00000443437.2_Missense_Mutation_p.E358K	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	447					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CATTCGGCATGAAGATGTCCA	0.433000													49	28					0	0	0.003610	0	0
KDM6B	23135	broad.mit.edu	37	17	7751368	7751368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7751368C>T	ENST00000254846.5	+	11	2151	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S	KDM6B_ENST00000448097.2_Missense_Mutation_p.P588S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	588	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCCCCGGCCTCCCAGCCCAGC	0.627000													8	48					0	0	0.004482	0	0
DEFB112	245915	broad.mit.edu	37	6	50016297	50016297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:50016297G>A	ENST00000322246.4	-	1	67	c.68C>T	c.(67-69)tCc>tTc	p.S23F		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	23					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					AAATATTGTGGAAGATGTATT	0.333000													18	63					0	0	0.001523	0	0
CPE	1363	broad.mit.edu	37	4	166405617	166405617	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:166405617C>T	ENST00000402744.4	+	5	1114	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	278					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)	ACGCCATTTTCCAAAGCTTGG	0.493000													89	152					0	0	0.003610	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928279	31928279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31928279C>T	ENST00000375394.2	+	5	538	c.425C>T	c.(424-426)tCc>tTc	p.S142F	SKIV2L_ENST00000544581.1_Intron|SKIV2L_ENST00000488648.1_3'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	142						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGCCAGCCTCCCAGTCCTTA	0.542000													98	227					0	0	0.003610	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:143767740G>A	ENST00000419275.1	-	1	141	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000													63	181					0	0	0.003610	0	0
QRSL1	55278	broad.mit.edu	37	6	107097034	107097034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:107097034C>T	ENST00000369046.4	+	5	619	c.515C>T	c.(514-516)tCa>tTa	p.S172L	QRSL1_ENST00000369044.1_Missense_Mutation_p.S172L	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	172				S -> P (in Ref. 1; CAB66614).	translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGAGGAAGCTCAGGTGGGAGT	0.428000													11	50					0	0	0.001855	0	0
ACAN	176	broad.mit.edu	37	15	89398540	89398540	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:89398540G>A	ENST00000439576.2	+	12	3098	c.2724G>A	c.(2722-2724)gtG>gtA	p.V908V	ACAN_ENST00000561243.1_Silent_p.V908V|ACAN_ENST00000559004.1_Silent_p.V908V|ACAN_ENST00000352105.7_Silent_p.V908V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	908					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCACAGTGGGCTCAGGCC	0.577000													10	19					0	0	0.006214	0	0
AHNAK	79026	broad.mit.edu	37	11	62285731	62285731	+	Silent	SNP	G	G	T	rs138648206		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62285731G>T	ENST00000378024.4	-	5	16432	c.16158C>A	c.(16156-16158)tcC>tcA	p.S5386S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5386					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)				GAGCTCCTACGGATACTTTAG	0.522000													12	34					3.07112e-06	4.79029e-06	0.000978	1	0
IGSF9	57549	broad.mit.edu	37	1	159907537	159907537	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159907537C>T	ENST00000368094.1	-	4	536	c.339G>A	c.(337-339)ctG>ctA	p.L113L	IGSF9_ENST00000361509.3_Silent_p.L113L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	113	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCTGGTCCAGGAAGAACA	0.607000													20	40					0	0	0.001523	0	0
COL19A1	1310	broad.mit.edu	37	6	70890386	70890386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:70890386C>T	ENST00000322773.4	+	44	2848	c.2746C>T	c.(2746-2748)Cct>Tct	p.P916S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P538S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	916	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATAGGTTTCCCTGGACCAGA	0.408000													5	43					0	0	0.001168	0	0
SOWAHB	345079	broad.mit.edu	37	4	77816851	77816851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77816851C>T	ENST00000334306.2	-	1	2151	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	718																	TGCCATATTTCCCCAGAGGTA	0.507000													58	133					0	0	0.003610	0	0
TNNT2	7139	broad.mit.edu	37	1	201331124	201331124	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201331124C>T	ENST00000509001.1	-	13	892	c.606G>A	c.(604-606)caG>caA	p.Q202Q	TNNT2_ENST00000367318.5_Silent_p.Q202Q|TNNT2_ENST00000367317.4_Silent_p.Q202Q|TNNT2_ENST00000421663.2_Silent_p.Q205Q|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367315.2_Silent_p.Q199Q|TNNT2_ENST00000367322.1_Silent_p.Q199Q|TNNT2_ENST00000236918.7_Silent_p.Q207Q|TNNT2_ENST00000367320.2_Silent_p.Q169Q|TNNT2_ENST00000458432.2_Silent_p.Q211Q|TNNT2_ENST00000360372.4_Silent_p.Q197Q	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	212					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCCGCTCAGTCTGCCTCTTCC	0.572000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	61					0	0	0.005524	0	0
KIF21A	55605	broad.mit.edu	37	12	39760883	39760883	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:39760883G>A	ENST00000395670.3	-	5	1103	c.684C>T	c.(682-684)gcC>gcT	p.A228A	KIF21A_ENST00000361961.3_Silent_p.A228A|KIF21A_ENST00000361418.5_Silent_p.A228A|KIF21A_ENST00000541463.2_Silent_p.A228A|KIF21A_ENST00000544797.2_Silent_p.A228A			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	228	Kinesin-motor.				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)				TGGTAAAAATGGCATGTGAAC	0.393000													13	44					0	0	0.001855	0	0
FBXL18	80028	broad.mit.edu	37	7	5540617	5540617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5540617G>A	ENST00000382368.3	-	3	1406	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	FBXL18_ENST00000453700.3_Missense_Mutation_p.S428F	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	428									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggcgcggAGTCAGCGAC	0.736000													15	7					0	0	0.004007	0	0
TRIO	7204	broad.mit.edu	37	5	14507328	14507328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:14507328C>T	ENST00000344204.4	+	56	8734	c.8710C>T	c.(8710-8712)Cgg>Tgg	p.R2904W	TRIO_ENST00000344135.5_Missense_Mutation_p.R403W|TRIO_ENST00000537187.1_Missense_Mutation_p.R2728W	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2904	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAAGCTGTCCGGTACCTGCA	0.642000													16	20					0	0	0.004007	0	0
SLC12A5	57468	broad.mit.edu	37	20	44686191	44686191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:44686191C>T	ENST00000454036.1	+	26	3443	c.3367C>T	c.(3367-3369)Cgg>Tgg	p.R1123W	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R1100W	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1123					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACCTGGACCGGGTGATGCT	0.677000													38	53					0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159273745	159273745	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159273745A>G	ENST00000368115.1	+	4	203	c.104A>G	c.(103-105)aAc>aGc	p.N35S	FCER1A_ENST00000368114.1_Intron	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	35	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTCTCCTTGAACCCTCCATGG	0.363000													12	30					0	0	0.001855	0	0
TUSC3	7991	broad.mit.edu	37	8	15508281	15508281	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:15508281C>T	ENST00000382020.4	+	3	592	c.384C>T	c.(382-384)ttC>ttT	p.F128F	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Silent_p.F128F|TUSC3_ENST00000509380.1_Silent_p.F128F|TUSC3_ENST00000503731.1_Silent_p.F128F	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	128					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGCTCTTCTTCAGTATGGTGG	0.373000													47	114					0	0	0.003610	0	0
NUP210L	91181	broad.mit.edu	37	1	154042812	154042812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:154042812C>T	ENST00000368559.3	-	17	2562	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E831K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	831						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)			TTATAATCTTCGAAATGGGCT	0.378000													34	113					0	0	0.005524	0	0
NEBL	10529	broad.mit.edu	37	10	21101732	21101732	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:21101732G>A	ENST00000377122.4	-	24	2880	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	NEBL_ENST00000417816.2_Silent_p.I165I|NEBL_ENST00000377159.4_Silent_p.I131I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	828					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						CCATCTCCACGATGTGAGGGT	0.542000													12	34					0	0	0.002450	0	0
CSPP1	79848	broad.mit.edu	37	8	68007875	68007875	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68007875C>T	ENST00000262210.5	+	6	889	c.858C>T	c.(856-858)gaC>gaT	p.D286D	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	321						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATAGACCAGACCAAGATCCTG	0.363000													12	48					0	0	0.001368	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303507	151303507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151303507G>A	ENST00000370323.4	-	4	902	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196S|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	196	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGTGGGATCCACTTCC	0.493000													20	18					0	0	0.002299	0	0
NLRP3	114548	broad.mit.edu	37	1	247586558	247586558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586558C>T	ENST00000366497.2	+	3	1090	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	NLRP3_ENST00000391827.2_Missense_Mutation_p.P104S|NLRP3_ENST00000366496.2_Missense_Mutation_p.P104S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.P104S|NLRP3_ENST00000336119.3_Missense_Mutation_p.P104S|NLRP3_ENST00000348069.2_Missense_Mutation_p.P104S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	104					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)			TGTTTCGAATCCCACTGTGAT	0.403000													27	92					0	0	0.007291	0	0
C9orf131	138724	broad.mit.edu	37	9	35044975	35044975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35044975G>A	ENST00000312292.5	+	2	2396	c.2349G>A	c.(2347-2349)tgG>tgA	p.W783*	C9orf131_ENST00000421362.2_Nonsense_Mutation_p.W735*|C9orf131_ENST00000354479.5_Nonsense_Mutation_p.W710*	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	783										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCTGGCAGTGGAGTAGAGAGC	0.582000													43	60					0	0	0.002522	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620080	15620080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:15620080C>T	ENST00000464847.2	+	5	1595	c.1042C>T	c.(1042-1044)Cat>Tat	p.H348Y	ZNF286A_ENST00000593105.1_Missense_Mutation_p.H338Y|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.H348Y|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.H348Y|ZNF286A_ENST00000413242.2_Missense_Mutation_p.H348Y			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCAGTTGATTCATACTGGAGT	0.368000													21	36					0	0	0.003330	0	0
TCIRG1	10312	broad.mit.edu	37	11	67815412	67815412	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67815412G>A	ENST00000265686.3	+	13	1635	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	TCIRG1_ENST00000532635.1_Silent_p.L293L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	509					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GTGTCTTCCTGGGACCCTACC	0.652000													14	27					0	0	0.006122	0	0
TRPM5	29850	broad.mit.edu	37	11	2441489	2441489	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2441489C>T	ENST00000452833.1	-	4	626	c.618G>A	c.(616-618)ctG>ctA	p.L206L	TRPM5_ENST00000528453.1_Silent_p.L204L|TRPM5_ENST00000155858.6_Silent_p.L204L|TRPM5_ENST00000533060.1_Silent_p.L204L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	204						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGCTTCTCCAGCCTCAGCC	0.692000													55	117					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147449990	147449990	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:147449990A>G	ENST00000359874.3	+	3	259	c.186A>G	c.(184-186)aaA>aaG	p.K62K	SPINK5_ENST00000398454.1_Silent_p.K62K|SPINK5_ENST00000256084.7_Silent_p.K62K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	62	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCAATAAATGTGCCACGT	0.333000													39	78					0	0	0.002222	0	0
ASUN	55726	broad.mit.edu	37	12	27089526	27089526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:27089526G>A	ENST00000261191.7	-	2	747	c.211C>T	c.(211-213)Cct>Tct	p.P71S	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	71					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTTTTGAAAGGAAATATATCA	0.323000													9	14					0	0	0.006214	0	0
APOL3	80833	broad.mit.edu	37	22	36538010	36538010	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36538010C>T	ENST00000397293.2	-	4	581	c.234G>A	c.(232-234)agG>agA	p.R78R	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000349314.2_Silent_p.R149R			O95236	APOL3_HUMAN	apolipoprotein L, 3	149					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AAAACCATTCCCTAAACTGCT	0.453000													28	56					0	0	0.006320	0	0
THEMIS	387357	broad.mit.edu	37	6	128150684	128150684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128150684G>A	ENST00000368250.1	-	4	907	c.409C>T	c.(409-411)Cct>Tct	p.P137S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P216S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P216S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P181S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	216	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAGTCTTTAGGAAATGGATTC	0.363000													24	61					0	0	0.003954	0	0
PLS3	5358	broad.mit.edu	37	X	114869286	114869286	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:114869286C>T	ENST00000420625.2	+	7	810	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	PLS3_ENST00000355899.3_Silent_p.L226L|PLS3_ENST00000539310.1_Silent_p.L181L|PLS3_ENST00000537301.1_Silent_p.L204L|PLS3_ENST00000289290.3_Silent_p.L181L	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	226	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GAAACCTCATCTGGTTTTGGG	0.448000													66	32					0	0	0.003610	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901270	45901270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45901270G>A	ENST00000418234.2	-	3	269	c.191C>T	c.(190-192)cCt>cTt	p.P64L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P64L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	64	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TACCCTAGAAGGGGGTCCGGC	0.617000													20	24					0	0	0.002780	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677854	74677854	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:74677854G>C	ENST00000380494.5	-	16	2214	c.1921C>G	c.(1921-1923)Cga>Gga	p.R641G	COL4A3BP_ENST00000405807.4_Missense_Mutation_p.R513G|COL4A3BP_ENST00000508692.1_5'UTR|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R487G	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	513					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GGTATCTTTCGAATGACAGAA	0.373000													10	25					0	0	0.000978	0	0
MMP12	4321	broad.mit.edu	37	11	102743711	102743711	+	RNA	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:102743711T>C	ENST00000532855.1	-	0	330							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	ATGTGTCCAGTTGCCCGGTCA	0.468000													11	21					0	0	0.001855	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113817	142113817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:142113817C>T	ENST00000370504.3	+	1	100	c.17C>T	c.(16-18)tCc>tTc	p.S6F	SPANXN4_ENST00000446864.1_Missense_Mutation_p.S6F			Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	6										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCAACTTCCAGCACCAAC	0.423000													6	1					0	0	0.004482	0	0
SLC8A2	6543	broad.mit.edu	37	19	47940789	47940789	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:47940789C>T	ENST00000236877.6	-	8	2435	c.2040G>A	c.(2038-2040)acG>acA	p.T680T	SLC8A2_ENST00000539381.1_Silent_p.T143T|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.T436T	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	680					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGGCCAAGTTCGTTTTCTTGA	0.547000													17	60					0	0	0.001523	0	0
MYL2	4633	broad.mit.edu	37	12	111350900	111350900	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:111350900C>T	ENST00000228841.8	-	6	449	c.402_splice	c.e6+1	p.E134_splice	MYL2_ENST00000548438.1_Splice_Site_p.E120_splice	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	134	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.E134D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACCCCATTACCTCCTCCTTGG	0.587000													25	43					0	0	0.002836	0	0
NIPBL	25836	broad.mit.edu	37	5	37017166	37017166	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:37017166G>C	ENST00000282516.8	+	24	5321	c.4822G>C	c.(4822-4824)Gca>Cca	p.A1608P	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1608P	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1608					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTAAGAGTGGCATCTCTTGA	0.323000													12	28					0	0	0.001368	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810364	167810364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:167810364C>T	ENST00000357154.3	-	7	652	c.515G>A	c.(514-516)gGa>gAa	p.G172E	SPOCK3_ENST00000512681.1_Missense_Mutation_p.G74E|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G172E|SPOCK3_ENST00000541637.1_Missense_Mutation_p.G74E|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G121E|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G172E|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G169E|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G169E|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G52E|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G80E|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G172E|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G76E|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G169E|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G169E|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G169E	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	172	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GATCTGTTTTCCTAAGACACA	0.328000													18	79					0	0	0.001216	0	0
CNTN2	6900	broad.mit.edu	37	1	205035016	205035016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205035016G>A	ENST00000331830.4	+	14	2079	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	599	Ig-like C2-type 6.				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)			CGCGTCCAAGGAGGCCACAGT	0.617000													11	25					0	0	0.001855	0	0
KCNQ1	3784	broad.mit.edu	37	11	2608862	2608862	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:2608862G>A	ENST00000155840.5	+	9	1299	c.1191G>A	c.(1189-1191)cgG>cgA	p.R397R	KCNQ1_ENST00000335475.5_Silent_p.R270R	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	397					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCTACATCCGGAAGGCCCCCC	0.637000													76	184					0	0	0.003610	0	0
NXPH4	11247	broad.mit.edu	37	12	57619147	57619147	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:57619147C>T	ENST00000349394.5	+	2	719	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	182	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TACGCTCGCCCTGGAGGGGGT	0.741000													23	54					0	0	0.002780	0	0
ZNF440	126070	broad.mit.edu	37	19	11942536	11942536	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11942536T>C	ENST00000304060.5	+	4	709	c.545T>C	c.(544-546)aTt>aCt	p.I182T		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAAACCTTTATTTCCCATTCA	0.403000													37	90					0	0	0.004289	0	0
SPACA4	171169	broad.mit.edu	37	19	49110475	49110475	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49110475G>A	ENST00000321762.1	+	1	476	c.240G>A	c.(238-240)agG>agA	p.R80R	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	80	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCAGCTACAGGGGCGTCACCT	0.677000													4	15					0	0	0.000248	0	0
ANK2	287	broad.mit.edu	37	4	114264272	114264272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:114264272G>A	ENST00000357077.4	+	34	4275	c.4222G>A	c.(4222-4224)Gaa>Aaa	p.E1408K	ANK2_ENST00000510275.2_Missense_Mutation_p.E60K|ANK2_ENST00000394537.3_Missense_Mutation_p.E1408K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1399K|ANK2_ENST00000264366.6_Missense_Mutation_p.E1375K|ANK2_ENST00000509550.1_Missense_Mutation_p.E584K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1375					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGCCTTCAAAGAAAATAGACT	0.338000													8	36					0	0	0.006214	0	0
DNAH1	25981	broad.mit.edu	37	3	52394075	52394075	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52394075C>T	ENST00000420323.2	+	27	4812	c.4551C>T	c.(4549-4551)ttC>ttT	p.F1517F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1517	Stem (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)		TGAATGACTTCCAGTGGATCT	0.577000													24	74					0	0	0.002780	0	0
CDK14	5218	broad.mit.edu	37	7	90585031	90585031	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90585031C>T	ENST00000406263.1	+	8	1150	c.708C>T	c.(706-708)tcC>tcT	p.S236S	CDK14_ENST00000380050.3_Silent_p.S282S|CDK14_ENST00000265741.3_Silent_p.S264S|CDK14_ENST00000436577.2_Silent_p.S153S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	282	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GAGCAAAATCCGTCCCTAGCC	0.413000													32	60					0	0	0.003271	0	0
CECR6	27439	broad.mit.edu	37	22	17600968	17600968	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:17600968C>T	ENST00000331437.3	-	1	1175	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	CECR6_ENST00000399875.1_5'UTR	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	350										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GACGGAAGCCCGTGGTGCCGA	0.672000													14	25					0	0	0.002450	0	0
LZTFL1	54585	broad.mit.edu	37	3	45877241	45877241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:45877241G>A	ENST00000296135.6	-	3	338	c.164C>T	c.(163-165)tCt>tTt	p.S55F	LZTFL1_ENST00000536047.1_Missense_Mutation_p.S38F|LZTFL1_ENST00000539217.1_Missense_Mutation_p.S51F|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	55										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GAGGACTTCAGAGACTTCATC	0.403000													44	21					0	0	0.003610	0	0
CCNL2	81669	broad.mit.edu	37	1	1322766	1322766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:1322766G>A	ENST00000400809.3	-	11	1413	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Nonsense_Mutation_p.R248*	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	470					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACCTGCTTCGAGAACGGGAA	0.552000													27	24					0	0	0.002096	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653792	46653792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46653792C>T	ENST00000253255.5	-	1	5427	c.5428G>A	c.(5428-5430)Gaa>Aaa	p.E1810K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1810					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACAAACTTTTCGGCAGGTAGA	0.398000													58	189					0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144843	11144843	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:11144843C>T	ENST00000358026.2	+	28	4202	c.3918C>T	c.(3916-3918)atC>atT	p.I1306I	SMARCA4_ENST00000590574.1_Silent_p.I1273I|SMARCA4_ENST00000444061.3_Silent_p.I1273I|SMARCA4_ENST00000344626.4_Silent_p.I1306I|SMARCA4_ENST00000541122.2_Silent_p.I1273I|SMARCA4_ENST00000589677.1_Silent_p.I1273I|SMARCA4_ENST00000413806.3_Silent_p.I1273I|SMARCA4_ENST00000429416.3_Silent_p.I1306I|SMARCA4_ENST00000450717.3_Silent_p.I1273I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1306					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCAGATGATCGCCCGGCACG	0.617000			"""F, N, Mis"""		NSCLC								25	30					0	0	0.005443	0	0
TEP1	7011	broad.mit.edu	37	14	20846375	20846375	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20846375G>A	ENST00000262715.5	-	39	5569	c.5529C>T	c.(5527-5529)gcC>gcT	p.A1843A	TEP1_ENST00000545983.1_Silent_p.A181A|TEP1_ENST00000556935.1_Silent_p.A1735A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1843					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TACGGATAGAGGCTCCGGGTG	0.597000													20	34					0	0	0.001882	0	0
CADM2	253559	broad.mit.edu	37	3	85961660	85961660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:85961660C>T	ENST00000383699.3	+	6	1294	c.667C>T	c.(667-669)Cct>Tct	p.P223S	CADM2_ENST00000405615.2_Missense_Mutation_p.P216S|CADM2_ENST00000407528.2_Missense_Mutation_p.P214S	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	214					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)		CAATGCCACCCCTCAGGTAGC	0.488000													26	24					0	0	0.006320	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576177	33576177	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:33576177G>A	ENST00000504830.1	-	19	4289	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	ADAMTS12_ENST00000352040.3_Silent_p.I1233I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1318	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTTTCCGACGATCCAGTGTG	0.453000										HNSCC(64;0.19)			25	52					0	0	0.003330	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160494	70160494	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70160494T>G	ENST00000335568.5	+	6	1559	c.1557T>G	c.(1555-1557)ttT>ttG	p.F519L	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	519					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTGGAAGTTTGCTAGAAAAG	0.403000													9	56					0	0	0.006214	0	0
ANO3	63982	broad.mit.edu	37	11	26621241	26621241	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26621241A>T	ENST00000256737.3	+	17	2668	c.1816A>T	c.(1816-1818)Atc>Ttc	p.I606F	ANO3_ENST00000537978.1_Missense_Mutation_p.I590F|ANO3_ENST00000531568.1_Missense_Mutation_p.I460F|ANO3_ENST00000525139.1_Missense_Mutation_p.I590F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	606						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATTTCATAATCATTATGTT	0.368000													25	34					0	0	0.004656	0	0
OR4D10	390197	broad.mit.edu	37	11	59245628	59245628	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:59245628C>T	ENST00000530162.1	+	1	783	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGCACCTCCCACATCACTG	0.537000													27	84					0	0	0.001512	0	0
TRIM29	23650	broad.mit.edu	37	11	119996560	119996560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:119996560G>A	ENST00000341846.5	-	4	1593	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L	TRIM29_ENST00000529044.1_Missense_Mutation_p.P130L|TRIM29_ENST00000541857.1_Missense_Mutation_p.P124L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	391					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCAGGGGTGGGGGGAGAGA	0.527000													12	32					0	0	0.001855	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282750	47282750	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47282750C>T	ENST00000271153.4	+	9	1137	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	CYP4B1_ENST00000452782.2_Silent_p.T205T|CYP4B1_ENST00000371919.4_Silent_p.T353T|CYP4B1_ENST00000371923.4_Silent_p.T368T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	367					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)					CTTATCTGACCATGTGCATCA	0.547000													33	93					0	0	0.004289	0	0
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167262858A>T	ENST00000409855.1	-	25	4407	c.4281T>A	c.(4279-4281)ctT>ctA	p.L1427L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACTTGAAAAAGACAGAGCA	0.363000													71	142					0	0	0.003610	0	0
WBSCR16	81554	broad.mit.edu	37	7	74486466	74486466	+	Missense_Mutation	SNP	G	G	A	rs143969297		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:74486466G>A	ENST00000503250.2	-	2	511	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	WBSCR16_ENST00000329959.4_Missense_Mutation_p.R148W|WBSCR16_ENST00000543840.1_Missense_Mutation_p.R148W			Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	148										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTATCTTTCCGGCTCCTGTGA	0.458000													16	41					0	0	0.004990	0	0
HIAT1	64645	broad.mit.edu	37	1	100546060	100546060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:100546060C>T	ENST00000370152.3	+	11	1247	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	371					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGGTGTCGTTCAAGGAATGAT	0.363000													31	77					0	0	0.003271	0	0
STK32A	202374	broad.mit.edu	37	5	146763046	146763046	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:146763046T>C	ENST00000397936.3	+	12	1408	c.1075T>C	c.(1075-1077)Ttc>Ctc	p.F359L	STK32A_ENST00000398523.3_Missense_Mutation_p.F359L	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	359							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAAGGAGTTCATAATTTT	0.388000													6	5					0	0	0.003080	0	0
CLMN	79789	broad.mit.edu	37	14	95670239	95670239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:95670239C>T	ENST00000298912.4	-	9	1560	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	483						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAGGAGGATTCTGGAATCTTC	0.463000													13	27					0	0	0.002450	0	0
LYVE1	10894	broad.mit.edu	37	11	10582155	10582155	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:10582155T>A	ENST00000256178.3	-	4	748	c.590A>T	c.(589-591)aAa>aTa	p.K197I	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR|LYVE1_ENST00000529598.1_Missense_Mutation_p.K93I|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	197					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AATCAATTTTTTTCTCCGTGG	0.423000													24	41					0	0	0.002780	0	0
ABCA9	10350	broad.mit.edu	37	17	67029972	67029972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:67029972C>T	ENST00000340001.4	-	9	1382	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ABCA9_ENST00000453985.2_Missense_Mutation_p.D391N|ABCA9_ENST00000370732.2_Missense_Mutation_p.D391N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	391					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGTGAAGAATCCAAGTGGGCA	0.284000													62	124					0	0	0.003610	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156651206	156651206	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:156651206C>T	ENST00000296518.7	+	10	2105	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	GUCY1A3_ENST00000513574.1_Silent_p.F632F|GUCY1A3_ENST00000506455.1_Silent_p.F632F|GUCY1A3_ENST00000393832.3_Silent_p.F374F|GUCY1A3_ENST00000511108.1_Silent_p.F632F|GUCY1A3_ENST00000455639.2_Silent_p.F632F			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	632					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTCCTGGTTTCGTGTTTACCC	0.378000													11	49					0	0	0.000673	0	0
PCF11	51585	broad.mit.edu	37	11	82877735	82877735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:82877735C>T	ENST00000298281.4	+	5	2248	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	599					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.S599F(1)|p.S698F(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGATGGAAATCTGGTTGGGAA	0.333000													49	114					0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167273338	167273338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:167273338G>A	ENST00000409855.1	-	20	3419	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1098					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GACTTCAGATGAAGGAAACCT	0.388000													14	29					0	0	0.002450	0	0
FBLN5	10516	broad.mit.edu	37	14	92347661	92347661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92347661C>T	ENST00000267620.10	-	10	1256	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	FBLN5_ENST00000342058.4_Missense_Mutation_p.E322K|FBLN5_ENST00000556154.1_Missense_Mutation_p.E327K			Q9UBX5	FBLN5_HUMAN	fibulin 5	322			A -> T (in ARMD3).		cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGATAAGGCTCCTCACAGCGG	0.532000													16	22					0	0	0.004990	0	0
OR2F2	135948	broad.mit.edu	37	7	143633222	143633222	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143633222G>A	ENST00000408955.2	+	1	964	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGGTGAAGGGGGCCTGGCATA	0.413000													10	32					0	0	0.000978	0	0
DCDC1	341019	broad.mit.edu	37	11	31312262	31312262	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31312262G>A	ENST00000597505.1	-	5	891	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	DCDC1_ENST00000452803.1_Silent_p.L298L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	298					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTAAAGAACAGAATTCGGACT	0.363000													23	53					0	0	0.003954	0	0
PKD1	5310	broad.mit.edu	37	16	2160338	2160338	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2160338G>A	ENST00000262304.4	-	15	5038	c.4830C>T	c.(4828-4830)atC>atT	p.I1610I	PKD1_ENST00000423118.1_Silent_p.I1610I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1610	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCCGTGACGATGATATTGA	0.612000													15	32					0	0	0.004007	0	0
ZNF43	7594	broad.mit.edu	37	19	21990993	21990993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21990993G>A	ENST00000594012.1	-	7	2342	c.1828C>T	c.(1828-1830)Cat>Tat	p.H610Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.H610Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H616Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H610Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCTCCAGTATGAATTTTTTTA	0.338000													4	20					0	0	0.000602	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60036650	60036650	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:60036650G>A	ENST00000586569.1	+	9	1538	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	500					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTGATGGGAGGCTCCCAAGCT	0.642000													19	51					0	0	0.001523	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102552569	102552569	+	Silent	SNP	A	A	T	rs143957536		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:102552569A>T	ENST00000334701.7	-	3	794	c.513T>A	c.(511-513)atT>atA	p.I171I	HSP90AA1_ENST00000216281.8_Silent_p.I49I|HSP90AA1_ENST00000441629.2_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	49					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ATGAATTTGAAATGAGCTCTC	0.378000													12	38					0	0	0.001368	0	0
OR2T4	127074	broad.mit.edu	37	1	248525490	248525490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248525490C>T	ENST00000366475.1	+	1	608	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TTCCGTGGATCCCGGGAGATT	0.498000													30	95					0	0	0.001512	0	0
IMPG1	3617	broad.mit.edu	37	6	76660395	76660395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76660395C>T	ENST00000369950.3	-	13	1897	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTCTCGGCCCTTGGGGGCA	0.498000													26	48					0	0	0.007291	0	0
CCDC110	256309	broad.mit.edu	37	4	186381105	186381105	+	Missense_Mutation	SNP	C	C	A	rs142282326		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:186381105C>A	ENST00000307588.3	-	6	711	c.636G>T	c.(634-636)atG>atT	p.M212I	CCDC110_ENST00000510617.1_Missense_Mutation_p.M212I|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Missense_Mutation_p.M175I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	212						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CAGCTTGAGACATCACATTTG	0.318000													17	21					3.32936e-07	5.19676e-07	0.006122	1	0
JPH3	57338	broad.mit.edu	37	16	87717835	87717835	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:87717835C>T	ENST00000284262.2	+	3	1490	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	416	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GGATCACTGCCAAAGAGTTCT	0.652000													8	19					0	0	0.004482	0	0
KIF1B	23095	broad.mit.edu	37	1	10386322	10386322	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:10386322C>T	ENST00000377086.1	+	27	3031	c.2829C>T	c.(2827-2829)gcC>gcT	p.A943A	KIF1B_ENST00000263934.6_Silent_p.A897A|KIF1B_ENST00000377081.1_Silent_p.A943A			O60333	KIF1B_HUMAN	kinesin family member 1B	943					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGATGACGCCGGCTCTGACG	0.552000													30	24					0	0	0.001786	0	0
ELMO1	9844	broad.mit.edu	37	7	37382279	37382279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37382279C>T	ENST00000310758.4	-	2	663	c.16G>A	c.(16-18)Gac>Aac	p.D6N	ELMO1_ENST00000448602.1_Missense_Mutation_p.D6N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D6N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	6					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGACGATGTCCGCGGGTGGC	0.498000													43	94					0	0	0.002222	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869219	31869219	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:31869219C>T	ENST00000334058.2	-	1	232	c.210G>A	c.(208-210)acG>acA	p.T70T		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	70						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCTGATATCGTGTCCTCAG	0.408000													40	69					0	0	0.006230	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241356	134241356	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134241356G>A	ENST00000535456.2	+	14	1586	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	GLB1L2_ENST00000339772.7_Silent_p.K466K|GLB1L2_ENST00000389881.3_Silent_p.K466K|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	466					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGGACTACAAGACAACGAAGA	0.542000													26	93					0	0	0.001512	0	0
INHBA	3624	broad.mit.edu	37	7	41729932	41729932	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:41729932C>T	ENST00000242208.4	-	3	843	c.597G>A	c.(595-597)ggG>ggA	p.G199G	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.G199G	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	199					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTCCTCTCCCCCTTTAAGC	0.587000										TSP Lung(11;0.080)			9	21					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884203	228884203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228884203G>A	ENST00000392056.3	-	7	1413	c.1367C>T	c.(1366-1368)cCa>cTa	p.P456L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P456L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	456						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)		ACTGCCATCTGGACTCTGAAC	0.512000													25	54					0	0	0.004656	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214036	3214036	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214036G>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							GGGGAATCCAGCAAGCCCTGG	0.552000													14	52					0	0	0.004007	0	0
EBF3	253738	broad.mit.edu	37	10	131666094	131666094	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:131666094G>A	ENST00000368648.3	-	9	909	c.837C>T	c.(835-837)ttC>ttT	p.F279F	EBF3_ENST00000355311.5_Silent_p.F288F	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	288	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCCCGTCAAAGAAGTTGTCGC	0.557000													13	27					0	0	0.001368	0	0
ACOT7	11332	broad.mit.edu	37	1	6453328	6453328	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:6453328G>A	ENST00000361521.4	-	1	1123	c.132C>T	c.(130-132)atC>atT	p.I44I	ACOT7_ENST00000545482.1_5'UTR	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	54						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCAGATCTGGATGGCGGACG	0.761000													4	11					0	0	0.000602	0	0
GSG2	83903	broad.mit.edu	37	17	3627278	3627278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3627278G>A	ENST00000325418.4	+	1	68	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	17					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCGCACATATGGGGCTGCGGA	0.692000													4	21					0	0	0.000602	0	0
CACNA1I	8911	broad.mit.edu	37	22	40056392	40056392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40056392C>T	ENST00000336649.4	+	18	2666	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S848F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S848F|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S883F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S848F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S883F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	883					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGAGCTCATCCAACATAGAA	0.577000													8	24					0	0	0.004482	0	0
CNTN3	5067	broad.mit.edu	37	3	74351884	74351884	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:74351884C>A	ENST00000263665.6	-	13	1770	c.1743G>T	c.(1741-1743)acG>acT	p.T581T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	581	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTCCACCCCCGTTTGCACCA	0.408000													25	14					2.21704e-12	3.48267e-12	0.002780	1	0
BARX2	8538	broad.mit.edu	37	11	129312769	129312769	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129312769G>T	ENST00000281437.4	+	3	624	c.528G>T	c.(526-528)caG>caT	p.Q176H	BARX2_ENST00000526127.1_Missense_Mutation_p.Q31H|BARX2_ENST00000531946.1_Missense_Mutation_p.Q54H	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	176										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CTCAGCTGCAGGTGAAGACCT	0.488000													43	97					2.55665e-31	4.03768e-31	0.003610	1	0
VDR	7421	broad.mit.edu	37	12	48250947	48250947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48250947G>A	ENST00000229022.3	-	7	829	c.548C>T	c.(547-549)tCc>tTc	p.S183F	VDR_ENST00000549336.1_Missense_Mutation_p.S183F|VDR_ENST00000395324.2_Missense_Mutation_p.S183F|VDR_ENST00000550325.1_Missense_Mutation_p.S233F|VDR_ENST00000535672.1_Missense_Mutation_p.S151F	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	183	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCAGGAGGAGGAGGAGTCCCC	0.582000													10	14					0	0	0.006214	0	0
C9orf170	401535	broad.mit.edu	37	9	89763693	89763693	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:89763693C>T	ENST00000375941.2	+	1	135	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	16										large_intestine(3)|lung(2)|prostate(1)	6						CCCTGCATCTCCTCCTGGGGG	0.726000													8	15					0	0	0.003080	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334022	37334022	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37334022G>A	ENST00000262825.5	+	14	2407	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G	CSF2RB_ENST00000536485.1_Silent_p.G671G|CSF2RB_ENST00000403662.3_Silent_p.G724G|CSF2RB_ENST00000406230.1_Silent_p.G730G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	724					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAAACTCAGGGGCCTCGTCTG	0.632000													26	90					0	0	0.001512	0	0
EGF	1950	broad.mit.edu	37	4	110932359	110932359	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:110932359G>A	ENST00000265171.5	+	24	3817	c.3370_splice	c.e24-1	p.G1124_splice	EGF_ENST00000509793.1_Splice_Site_p.G1082_splice|EGF_ENST00000503392.1_Splice_Site_p.G1083_splice	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1124					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTCATATAGGGTCAATGCAAC	0.438000													13	26					0	0	0.001855	0	0
LY9	4063	broad.mit.edu	37	1	160784448	160784448	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160784448G>A	ENST00000263285.5	+	4	999	c.969G>A	c.(967-969)aaG>aaA	p.K323K	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Silent_p.K323K|LY9_ENST00000368035.1_5'UTR|LY9_ENST00000368041.2_Silent_p.K283K	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	323	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTCCCTGAAGATCAGCCAGC	0.562000													7	28					0	0	0.003080	0	0
GMFG	9535	broad.mit.edu	37	19	39823752	39823752	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:39823752C>T	ENST00000598034.1	-	4	194	c.165G>A	c.(163-165)gaG>gaA	p.E55E	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000601387.1_Silent_p.E14E|GMFG_ENST00000595636.1_Silent_p.E55E|GMFG_ENST00000253054.8_Silent_p.E22E|GMFG_ENST00000602185.1_Silent_p.E6E|GMFG_ENST00000600322.1_Silent_p.E22E|GMFG_ENST00000597595.1_Silent_p.E55E			O60234	GMFG_HUMAN	glia maturation factor, gamma	55	ADF-H.				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TTTTGAGCTCCTCTGGGGAAA	0.542000													12	33					0	0	0.003163	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651597	121651597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:121651597C>T	ENST00000393386.2	+	12	2908	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	833					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATTGTTTCGCCATCTGCA	0.468000													58	116					0	0	0.003610	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	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	p.P29S(1)		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)	CAATGCATTTCCTGGAGAATA	0.353000													67	73					0	0	0.003610	0	0
MMRN1	22915	broad.mit.edu	37	4	90857243	90857243	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:90857243G>A	ENST00000394980.1	+	7	2731	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.K546K|MMRN1_ENST00000264790.2_Silent_p.K804K			Q13201	MMRN1_HUMAN	multimerin 1	804					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAGTCGCCAAGACCCTTGCAG	0.378000													13	47					0	0	0.003163	0	0
BANP	54971	broad.mit.edu	37	16	88105742	88105742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:88105742C>T	ENST00000393207.1	+	13	1633	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	BANP_ENST00000355163.5_Missense_Mutation_p.S449L|BANP_ENST00000286122.7_Missense_Mutation_p.S471L|BANP_ENST00000393208.2_Missense_Mutation_p.S443L|BANP_ENST00000479780.2_Missense_Mutation_p.S418L|BANP_ENST00000538234.1_Missense_Mutation_p.S460L|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000355022.4_Missense_Mutation_p.S421L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	471					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GTGGATGGGTCGCCACTCCAG	0.731000													9	8					0	0	0.004482	0	0
FLT1	2321	broad.mit.edu	37	13	29002051	29002051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:29002051C>T	ENST00000282397.4	-	9	1365	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	FLT1_ENST00000541932.1_Missense_Mutation_p.D372N|FLT1_ENST00000539099.1_Missense_Mutation_p.D372N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	372	Ig-like C2-type 4.				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)	GGTAACCCATCTTTTAACCTG	0.398000													12	38					0	0	0.001855	0	0
SEMG1	6406	broad.mit.edu	37	20	43837183	43837183	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43837183A>T	ENST00000372781.3	+	2	1302	c.1245A>T	c.(1243-1245)caA>caT	p.Q415H	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q355H	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATAGAGAACAAGACCTACTCA	0.433000													34	44					0	0	0.002445	0	0
LOC286238	286238	broad.mit.edu	37	9	91262549	91262549	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:91262549C>T	ENST00000418343.2	-	0	202																											ACTGCTATTCCTTGCTGTCTT	0.423000													31	38					0	0	0.001512	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161995	90161995	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:90161995G>A	ENST00000564451.1	+	0	1348				TUBB8P7_ENST00000567960.1_RNA																							GCGCTTCCCGGGCCAGCTGAA	0.597000													7	13					0	0	0.001984	0	0
TERT	7015	broad.mit.edu	37	5	1264578	1264578	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1264578G>A	ENST00000310581.5	-	11	2841	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	928	Required for oligomerization.|Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCACCAGGGGAATAGGCCGT	0.647000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				12	19					0	0	0.001855	0	0
FAM135B	51059	broad.mit.edu	37	8	139153502	139153502	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139153502G>A	ENST00000395297.1	-	17	3899	c.3729C>T	c.(3727-3729)ttC>ttT	p.F1243F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1243										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGAGTGACAGGAACGTGTGGA	0.502000										HNSCC(54;0.14)			25	40					0	0	0.005443	0	0
TENM3	55714	broad.mit.edu	37	4	183714622	183714622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:183714622C>T	ENST00000511685.1	+	26	6920	c.6797C>T	c.(6796-6798)tCg>tTg	p.S2266L	TENM3_ENST00000406950.2_Missense_Mutation_p.S2266L					teneurin transmembrane protein 3																		TACAACCATTCGAGTTCAGAA	0.413000													8	31					0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238280629	238280629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:238280629G>A	ENST00000295550.4	-	9	4483	c.4031C>T	c.(4030-4032)tCg>tTg	p.S1344L	COL6A3_ENST00000392004.3_Missense_Mutation_p.S1138L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1143L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1144L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S937L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1138L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1138L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S737L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1344	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTTCCAGACGAGATGAGGAC	0.612000													10	20					0	0	0.000978	0	0
MAGI1	9223	broad.mit.edu	37	3	65479241	65479241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:65479241C>T	ENST00000330909.8	-	3	495	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Missense_Mutation_p.E166K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E166K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E166K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	166	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCAAGAACTCCTTCACAGTC	0.488000													43	25					0	0	0.003610	0	0
B3GAT1	27087	broad.mit.edu	37	11	134251915	134251915	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:134251915G>A	ENST00000524765.1	-	5	5466	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	B3GAT1_ENST00000537389.1_Silent_p.L321L|B3GAT1_ENST00000312527.4_Silent_p.L308L|B3GAT1_ENST00000392580.1_Silent_p.L308L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	308					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TGCCACACCAGGATCTGTGTG	0.577000													17	37					0	0	0.001882	0	0
NLRP7	199713	broad.mit.edu	37	19	55451699	55451699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55451699G>A	ENST00000446217.1	-	6	974	c.572C>T	c.(571-573)cCc>cTc	p.P191L	NLRP7_ENST00000328092.5_Missense_Mutation_p.P163L|NLRP7_ENST00000588756.1_Missense_Mutation_p.P163L|NLRP7_ENST00000590030.1_Missense_Mutation_p.P163L|NLRP7_ENST00000340844.2_Missense_Mutation_p.P163L|NLRP7_ENST00000448121.2_Missense_Mutation_p.P163L|NLRP7_ENST00000592784.1_Missense_Mutation_p.P163L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	163	NACHT.						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)		GGGTGTTCTGGGATTCAAGAA	0.517000													53	124					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179427532	179427532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179427532C>T	ENST00000589042.1	-	326	83551	c.83327G>A	c.(83326-83328)aGa>aAa	p.R27776K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26135K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18711K|TTN_ENST00000342175.6_Missense_Mutation_p.R18903K|TTN_ENST00000342992.6_Missense_Mutation_p.R25208K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18836K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26135	Fibronectin type-III 102.						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)			CTTCACTTCTCTTATGGTCAA	0.403000													13	19					0	0	0.001855	0	0
EFCAB14	9813	broad.mit.edu	37	1	47183625	47183625	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47183625G>A	ENST00000371933.3	-	1	1111	c.135C>T	c.(133-135)tcC>tcT	p.S45S	EFCAB14_ENST00000544071.1_Silent_p.S45S	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		CTTCCTCTTCGGAGCTGGACT	0.557000													15	30					0	0	0.003163	0	0
DNM1	1759	broad.mit.edu	37	9	130985128	130985128	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130985128C>T	ENST00000341179.7	+	9	1277	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	DNM1_ENST00000372923.3_Silent_p.I395I|DNM1_ENST00000486160.1_Silent_p.I395I|DNM1_ENST00000475805.1_Silent_p.I395I|DNM1_ENST00000393594.3_Silent_p.I395I	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	395					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCAAGAATATCCATGGCATTA	0.542000													30	53					0	0	0.002836	0	0
IGSF1	3547	broad.mit.edu	37	X	130409619	130409619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:130409619C>T	ENST00000370904.1	-	22	3900	c.2990G>A	c.(2989-2991)gGa>gAa	p.G997E	IGSF1_ENST00000361420.3_Missense_Mutation_p.G1006E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G1011E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G997E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1006	Ig-like C2-type 10.				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						AGTGGCTTCTCCTTCTTTGTG	0.532000													23	21					0	0	0.001882	0	0
DNAH11	8701	broad.mit.edu	37	7	21675610	21675610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:21675610G>A	ENST00000328843.6	+	26	4668	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R1541Q|DNAH11_ENST00000465593.1_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1546	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGTCCAGCGAACTTGGTCT	0.388000									Kartagener syndrome				20	24					0	0	0.001216	0	0
LRIT2	340745	broad.mit.edu	37	10	85984339	85984339	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85984339A>T	ENST00000372113.4	-	2	647	c.642T>A	c.(640-642)ttT>ttA	p.F214L	LRIT2_ENST00000538192.1_Missense_Mutation_p.F214L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	214	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGGACTTGACAAACTGGACAA	0.552000													13	42					0	0	0.002450	0	0
GABRB3	2562	broad.mit.edu	37	15	26806324	26806324	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26806324C>T	ENST00000541819.2	-	9	1106		c.e9-1		GABRB3_ENST00000311550.5_Splice_Site|GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000400188.3_Splice_Site|GABRB3_ENST00000545868.1_Splice_Site			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTGTGATCCCTAGAAAAGAA	0.428000													34	60					0	0	0.004878	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445970	32445970	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32445970T>G	ENST00000266088.4	+	2	426	c.176T>G	c.(175-177)tTc>tGc	p.F59C		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	59					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGAGGCTTCTTCCTGGCAGGC	0.448000													79	160					0	0	0.003610	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572895	32572895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:32572895G>A	ENST00000379847.3	-	1	265	c.164C>T	c.(163-165)tCc>tTc	p.S55F	NDUFB6_ENST00000350021.2_Missense_Mutation_p.S55F	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	CCTCCAAGGGGATTTATTCTC	0.577000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	68					0	0	0.004656	0	0
CCDC81	60494	broad.mit.edu	37	11	86123497	86123497	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:86123497C>T	ENST00000278487.3	+	10	1571	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CCDC81_ENST00000528728.1_Silent_p.S164S|CCDC81_ENST00000445632.2_Silent_p.S429S|CCDC81_ENST00000354755.1_Silent_p.S339S			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	429										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGGAATATTCCCGGAGTCTCC	0.418000													23	83					0	0	0.002780	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810283	34810283	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:34810283C>T	ENST00000338074.2	+	21	2765	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	EPB41L1_ENST00000373941.1_Silent_p.D867D|EPB41L1_ENST00000441639.1_Silent_p.D766D|EPB41L1_ENST00000202028.5_Silent_p.D766D|EPB41L1_ENST00000373950.2_Silent_p.D759D|EPB41L1_ENST00000373946.3_Silent_p.D688D	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	868	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGAAACAGACCCATCCCCAG	0.552000													48	55					0	0	0.003610	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183120	140183120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140183120C>T	ENST00000522353.2	+	1	2338	c.2338C>T	c.(2338-2340)Cca>Tca	p.P780S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P780S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCTTGTCCAATTAGCCG	0.483000													26	64					0	0	0.003954	0	0
OPRL1	4987	broad.mit.edu	37	20	62729718	62729718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62729718C>T	ENST00000349451.3	+	6	1091	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	OPRL1_ENST00000336866.2_Missense_Mutation_p.P227S|OPRL1_ENST00000355631.4_Missense_Mutation_p.P227S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	227					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTTCATCGTCCCCGTGCTCGT	0.622000													38	55					0	0	0.001951	0	0
CABS1	85438	broad.mit.edu	37	4	71200984	71200984	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:71200984A>T	ENST00000273936.4	+	1	287	c.228A>T	c.(226-228)aaA>aaT	p.K76N		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	76			K -> Q (in dbSNP:rs3796706).			flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAACTCAAATCAGAAGATG	0.378000													31	50					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179641997	179641997	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179641997C>A	ENST00000589042.1	-	27	4917	c.4693G>T	c.(4693-4695)Gtc>Ttc	p.V1565F	TTN_ENST00000360870.5_Missense_Mutation_p.V1565F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V1565F|TTN_ENST00000460472.2_Missense_Mutation_p.V1519F|TTN_ENST00000342175.6_Missense_Mutation_p.V1519F|TTN_ENST00000342992.6_Missense_Mutation_p.V1565F|TTN_ENST00000359218.5_Missense_Mutation_p.V1519F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1300	Ig-like 7.						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)			TTTATATTGACATTTTTCAGT	0.398000													27	49					7.92952e-12	1.24518e-11	0.003954	1	0
THBS1	7057	broad.mit.edu	37	15	39874629	39874629	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:39874629G>A	ENST00000260356.5	+	3	468	c.303G>A	c.(301-303)cgG>cgA	p.R101R		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	101	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGAAGACCCGGGGCACGCTGC	0.622000													7	10					0	0	0.006214	0	0
HAS1	3036	broad.mit.edu	37	19	52217264	52217264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52217264G>A	ENST00000540069.2	-	5	1210	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	HAS1_ENST00000594621.1_Missense_Mutation_p.P214L|HAS1_ENST00000222115.1_Missense_Mutation_p.R385C|HAS1_ENST00000601714.1_Missense_Mutation_p.R392C			Q92839	HAS1_HUMAN	hyaluronan synthase 1	385					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCCACTCACGGAAGTACGAC	0.652000													7	26					0	0	0.001984	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	G	A	rs148196865		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140181759G>A	ENST00000522353.2	+	1	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G326E|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.G326E(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000													24	49					0	0	0.003954	0	0
DNAH3	55567	broad.mit.edu	37	16	20994050	20994050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20994050G>A	ENST00000261383.3	-	49	7851	c.7852C>T	c.(7852-7854)Cgg>Tgg	p.R2618W	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2618	AAA 4 (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)		TACTCTACCCGAATGTTGTCA	0.413000													16	36					0	0	0.001523	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756613	49756613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49756613C>T	ENST00000535833.1	-	10	3736	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.E96K			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	96					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCATCTAGTTCGTTGTGGTCT	0.667000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	29					0	0	0.003610	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631569	207631569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:207631569C>T	ENST00000236980.6	+	2	500	c.152C>T	c.(151-153)cCa>cTa	p.P51L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.P51L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.P51L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	51					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CTTTGCAAACCAAAAATAGTT	0.328000													12	35					0	0	0.001368	0	0
TSPEAR	54084	broad.mit.edu	37	21	45948430	45948430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45948430G>A	ENST00000323084.4	-	6	892	c.827C>T	c.(826-828)cCg>cTg	p.P276L	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P208L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	276					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CTCGGTACACGGTGGCTGGGG	0.577000													24	11					0	0	0.003330	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37254828	37254828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:37254828C>T	ENST00000373491.3	+	7	993	c.847C>T	c.(847-849)Cag>Tag	p.Q283*		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	283	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TCCGTTGTTCCAGCAACCACT	0.428000													32	96					0	0	0.003755	0	0
OR4C11	219429	broad.mit.edu	37	11	55371635	55371635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55371635G>A	ENST00000302231.4	-	1	239	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGTGGAAGTTGAAAAGCAAGA	0.388000													36	61					0	0	0.004289	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329477	117329477	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:117329477C>T	ENST00000321322.6	-	19	3742	c.3741G>A	c.(3739-3741)aaG>aaA	p.K1247K	DSCAML1_ENST00000527706.1_Silent_p.K977K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1187	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCGTCCTCCTTGGTCTGGA	0.647000													7	19					0	0	0.003080	0	0
SDPR	8436	broad.mit.edu	37	2	192701210	192701210	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:192701210C>T	ENST00000304141.4	-	2	1046	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	239						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGAGGCTATCCACTTTCTTCA	0.453000													68	173					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48620846	48620846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:48620846G>A	ENST00000328333.8	-	41	4524	c.4417C>T	c.(4417-4419)Cct>Tct	p.P1473S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1473S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1473	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATAGCTCCAGGAGGTCCCCGT	0.567000													11	7					0	0	0.002450	0	0
ZNF57	126295	broad.mit.edu	37	19	2916978	2916978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2916978C>T	ENST00000306908.5	+	4	507	c.359C>T	c.(358-360)gCc>gTc	p.A120V	ZNF57_ENST00000523428.1_Missense_Mutation_p.A88V|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGGAGAAGCCATCCATCAA	0.373000													23	46					0	0	0.002299	0	0
MSR1	4481	broad.mit.edu	37	8	16026226	16026226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:16026226C>T	ENST00000350896.3	-	4	568	c.371G>A	c.(370-372)aGa>aAa	p.R124K	MSR1_ENST00000445506.2_Missense_Mutation_p.R142K|MSR1_ENST00000381998.4_Missense_Mutation_p.R124K|MSR1_ENST00000355282.2_Missense_Mutation_p.R124K|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.R124K	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	124					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATGCTGGATTCTCTTCTCCAT	0.378000													46	116					0	0	0.003610	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917014	62917014	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:62917014G>A	ENST00000253401.6	-	4	1352	c.552C>T	c.(550-552)ttC>ttT	p.F184F	ARHGEF9_ENST00000374870.4_Silent_p.F82F|ARHGEF9_ENST00000374872.1_Silent_p.F163F|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Silent_p.F131F|ARHGEF9_ENST00000374878.1_Silent_p.F182F	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	184	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CGTGCTCTAGGAAGCAGGGTC	0.458000													10	2					0	0	0.000673	0	0
NPSR1	387129	broad.mit.edu	37	7	34724193	34724193	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:34724193C>T	ENST00000360581.1	+	2	305	c.177C>T	c.(175-177)ctC>ctT	p.L59L	NPSR1_ENST00000381542.1_Silent_p.L59L|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000359791.1_Silent_p.L59L|NPSR1_ENST00000465305.1_Silent_p.L59L|NPSR1_ENST00000381553.3_Silent_p.L59L|NPSR1_ENST00000531252.1_Silent_p.L59L|NPSR1_ENST00000381539.3_Silent_p.L59L	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	59						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGTGGGTCCTCTTTGTTTTTA	0.428000													23	83					0	0	0.004656	0	0
USP29	57663	broad.mit.edu	37	19	57640194	57640194	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57640194T>C	ENST00000254181.4	+	4	605	c.151T>C	c.(151-153)Ttt>Ctt	p.F51L	USP29_ENST00000598197.1_Missense_Mutation_p.F51L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	51					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATAAGAATTTTTCAGCTGAG	0.343000													14	20					0	0	0.002450	0	0
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:137263039G>A	ENST00000453654.1	-	16	1314	c.775C>T	c.(775-777)Cga>Tga	p.R259*	DGKI_ENST00000424189.2_Nonsense_Mutation_p.R559*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.R559*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.R559*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338000													5	28					0	0	0.001984	0	0
LRGUK	136332	broad.mit.edu	37	7	133861729	133861729	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:133861729G>A	ENST00000285928.2	+	9	1090	c.1020_splice	c.e9-1	p.E341_splice		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	341	LRRCT.						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						TTTTAAATAGGAAAAGTCTGA	0.363000													20	61					0	0	0.007413	0	0
CUZD1	50624	broad.mit.edu	37	10	124596416	124596416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:124596416C>T	ENST00000368904.1	-	7	1697	c.748G>A	c.(748-750)Gat>Aat	p.D250N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D250N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D250N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	250	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGCATAATCTGTAGACAAC	0.438000													25	50					0	0	0.004656	0	0
HRH2	3274	broad.mit.edu	37	5	175110437	175110437	+	Silent	SNP	C	C	T	rs149131528	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175110437C>T	ENST00000231683.2	+	1	1974	c.201C>T	c.(199-201)ctC>ctT	p.L67L	HRH2_ENST00000377291.2_Silent_p.L67L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	67					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	ACCTGCTCCTCGGCCTCCTGG	0.572000													23	60					0	0	0.002780	0	0
NUP54	53371	broad.mit.edu	37	4	77036570	77036570	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:77036570G>A	ENST00000264883.3	-	12	1613	c.1473C>T	c.(1471-1473)gtC>gtT	p.V491V	NUP54_ENST00000458189.2_Silent_p.V311V|NUP54_ENST00000514987.1_Silent_p.V443V|NUP54_ENST00000342467.6_Silent_p.V275V	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	491					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATCCATGTTCGACCAGCTTTA	0.368000													19	36					0	0	0.001216	0	0
PLXND1	23129	broad.mit.edu	37	3	129290066	129290066	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:129290066G>A	ENST00000393239.1	-	18	3595	c.3417C>T	c.(3415-3417)ttC>ttT	p.F1139F	PLXND1_ENST00000324093.4_Silent_p.F1139F			Q9Y4D7	PLXD1_HUMAN	plexin D1	1139	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CATTGATGAAGAAGTCCACTG	0.657000													22	31					0	0	0.001882	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443746	19443746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:19443746C>T	ENST00000338883.4	-	9	1341	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.D280N|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	448							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGACCCACATCCCAGTAATTG	0.458000													16	2					0	0	0.004007	0	0
EDARADD	128178	broad.mit.edu	37	1	236631531	236631531	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:236631531G>A	ENST00000359362.5	+	5	404	c.189_splice	c.e5-1	p.G64_splice	EDARADD_ENST00000334232.4_Splice_Site_p.G74_splice	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	74					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGTTTTTAGGGAGAAGAAAA	0.368000													54	133					0	0	0.003610	0	0
RBM19	9904	broad.mit.edu	37	12	114395759	114395759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:114395759G>A	ENST00000545145.2	-	6	746	c.668C>T	c.(667-669)tCc>tTc	p.S223F	RBM19_ENST00000392561.3_Missense_Mutation_p.S223F|RBM19_ENST00000261741.5_Missense_Mutation_p.S223F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	223					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCCTCCGAGGAAGAGGACGA	0.557000													33	58					0	0	0.002836	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441518	1441518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1441518C>T	ENST00000270349.9	-	3	501	c.374G>A	c.(373-375)aGg>aAg	p.R125K	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R125K	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	125					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.R125M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGCCCCTTCCCTGTTGAACTG	0.597000													12	34					0	0	0.001368	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171732	4171732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4171732C>T	ENST00000252587.3	+	7	961	c.818C>T	c.(817-819)cCc>cTc	p.P273L	CREB3L3_ENST00000078445.2_Silent_p.P384P|CREB3L3_ENST00000602257.1_Silent_p.P382P|CREB3L3_ENST00000595923.1_Silent_p.P383P|CREB3L3_ENST00000602147.1_3'UTR			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	100	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGGACCCCGACCCGAGG	0.642000													18	87					0	0	0.006122	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531545	43531545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:43531545G>A	ENST00000430334.3	-	7	1806	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S469F|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	558	PH 1.				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)					CTCCAGCGGGGAGAGCTCGCA	0.627000													6	9					0	0	0.001984	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349893	134349893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:134349893G>A	ENST00000275230.5	-	2	1225	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	357						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GGTCACCAACGAAGCTGCCAT	0.493000													14	38					0	0	0.002450	0	0
EPT1	85465	broad.mit.edu	37	2	26587215	26587215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:26587215C>T	ENST00000260585.7	+	2	222	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	35					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TGTCATGCATCCATTCTGGAA	0.299000													3	5					0	0	0.004672	0	0
INTS8	55656	broad.mit.edu	37	8	95848801	95848801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95848801C>T	ENST00000523731.1	+	7	936	c.803C>T	c.(802-804)tCa>tTa	p.S268L	INTS8_ENST00000447247.1_Missense_Mutation_p.S268L	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	268					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCACAAATTCAGCTGTCTAT	0.358000													105	247					0	0	0.003610	0	0
OTOP3	347741	broad.mit.edu	37	17	72938000	72938000	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:72938000C>T	ENST00000328801.4	+	3	495	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	165						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCAGGTTCCCTAGTGCTCT	0.647000													5	9					0	0	0.001168	0	0
PRKDC	5591	broad.mit.edu	37	8	48749903	48749903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:48749903G>A	ENST00000314191.2	-	58	7684	c.7628C>T	c.(7627-7629)tCc>tTc	p.S2543F	PRKDC_ENST00000338368.3_Missense_Mutation_p.S2543F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2544	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGAATATAAGGAATTTAGTGC	0.373000								Non-homologous end-joining					6	34					0	0	0.001168	0	0
RCAN2	10231	broad.mit.edu	37	6	46293132	46293132	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:46293132T>G	ENST00000330430.6	-	1	273	c.85A>C	c.(85-87)Aag>Cag	p.K29Q	RCAN2_ENST00000405162.1_Intron|RCAN2_ENST00000306764.7_Intron|RCAN2_ENST00000371374.1_Intron	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	29					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTGCATACCTTAACCTCCTGA	0.438000													11	37					0	0	0.000673	0	0
OR11H4	390442	broad.mit.edu	37	14	20711004	20711004	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20711004C>T	ENST00000315409.2	+	1	107	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	18					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)		CAACACACATCGTGACAGAGT	0.418000													14	30					0	0	0.003163	0	0
PREX2	80243	broad.mit.edu	37	8	69020425	69020425	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:69020425T>A	ENST00000288368.4	+	24	3074	c.2797T>A	c.(2797-2799)Ttc>Atc	p.F933I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	933					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCAGTGATTTCTGCCCTAC	0.423000													15	37					0	0	0.004007	0	0
ZNF385B	151126	broad.mit.edu	37	2	180348096	180348096	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:180348096C>T	ENST00000410066.1	-	6	1176	c.573G>A	c.(571-573)acG>acA	p.T191T	ZNF385B_ENST00000336917.5_Silent_p.T89T|ZNF385B_ENST00000409692.1_Silent_p.T89T|ZNF385B_ENST00000409343.1_Silent_p.T115T|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	191						nucleus	nucleic acid binding|zinc ion binding	p.T191T(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTTATTTTTCGTTGCGTCTA	0.468000													16	53					0	0	0.007413	0	0
COL1A2	1278	broad.mit.edu	37	7	94038684	94038684	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:94038684C>T	ENST00000297268.6	+	17	1314	c.843C>T	c.(841-843)ccC>ccT	p.P281P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	281					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCGCCGGTCCCCGTGGTGAAG	0.483000										HNSCC(75;0.22)			20	86					0	0	0.001786	0	0
GRIK3	2899	broad.mit.edu	37	1	37346270	37346270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:37346270C>T	ENST00000373091.3	-	3	531	c.515G>A	c.(514-516)tGg>tAg	p.W172*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.W172*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	172					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCTGACCGCCACTTGAGGTA	0.632000													47	109					0	0	0.003610	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58600174	58600174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58600174G>A	ENST00000240727.6	-	3	833	c.434C>T	c.(433-435)tCc>tTc	p.S145F	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.S145F|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.S10F|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.S201F	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	145					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGAATTGAGGATGAGCCCGC	0.597000													12	42					0	0	0.001855	0	0
FAM47A	158724	broad.mit.edu	37	X	34149421	34149421	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:34149421G>A	ENST00000346193.3	-	1	1026	c.975C>T	c.(973-975)ctC>ctT	p.L325L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	325										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						GCTCCGGGCGGAGACTGGACA	0.617000													5	1					0	0	0.000602	0	0
TRIM26	7726	broad.mit.edu	37	6	30166681	30166681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:30166681G>A	ENST00000454678.2	-	4	636	c.200C>T	c.(199-201)cCc>cTc	p.P67L	TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.P67L|TRIM26_ENST00000453195.1_Missense_Mutation_p.P67L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	67							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TTGCCACACGGGTCGGATGTT	0.627000													18	39					0	0	0.006122	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709860	128709860	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:128709860G>A	ENST00000392665.2	-	2	423	c.279C>T	c.(277-279)ttC>ttT	p.F93F	KCNJ1_ENST00000392664.2_Silent_p.F112F|KCNJ1_ENST00000392666.1_Silent_p.F93F|KCNJ1_ENST00000324036.3_Silent_p.F93F|KCNJ1_ENST00000440599.2_Silent_p.F93F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	112					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CAGAAGGATGGAATTCCGGGA	0.443000													17	34					0	0	0.004007	0	0
RGPD4	285190	broad.mit.edu	37	2	108488207	108488207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:108488207G>A	ENST00000408999.3	+	20	3824	c.3747G>A	c.(3745-3747)tgG>tgA	p.W1249*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W1249*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1249					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CATTAGAATGGGATAACTGTG	0.443000													85	199					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555860	125555860	+	Silent	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125555860T>A	ENST00000431078.1	+	19	3541	c.3177T>A	c.(3175-3177)tcT>tcA	p.S1059S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1059	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCAATTCTTCTTCTCAGGACT	0.502000													14	34					0	0	0.004007	0	0
PDE3B	5140	broad.mit.edu	37	11	14853268	14853268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:14853268C>T	ENST00000282096.4	+	9	2392	c.2039C>T	c.(2038-2040)cCa>cTa	p.P680L	PDE3B_ENST00000455098.2_Missense_Mutation_p.P629L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	680					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGAATTTTCCAATTTTTGAA	0.328000													25	69					0	0	0.006320	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951800	124951800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124951800C>T	ENST00000403796.2	+	9	1184	c.883C>T	c.(883-885)Cca>Tca	p.P295S	SLC37A2_ENST00000298280.5_Missense_Mutation_p.P295S|SLC37A2_ENST00000407458.1_Missense_Mutation_p.P295S|SLC37A2_ENST00000308074.4_Missense_Mutation_p.P295S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	295					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCTCCGGATCCCAGTAAGAAG	0.522000													17	29					0	0	0.001523	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995859	140995859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995859C>T	ENST00000285879.4	+	4	2955	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	890							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)					GAGAGTGATTCCTTGACAGAC	0.478000										HNSCC(15;0.026)			79	57					0	0	0.003610	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297761	139297761	+	Silent	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:139297761A>C	ENST00000406164.1	-	4	698	c.135T>G	c.(133-135)ccT>ccG	p.P45P	NMNAT3_ENST00000296202.7_Silent_p.P82P|NMNAT3_ENST00000511444.1_Silent_p.P45P|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000339837.5_Silent_p.P45P|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000512391.1_Silent_p.P82P|RP11-319G6.1_ENST00000381790.3_RNA			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	82					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACTCTCCCAAGGGTCCACCC	0.592000													11	27					0	0	0.001368	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41753189	41753189	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:41753189A>G	ENST00000352645.4	+	23	2947	c.2690A>G	c.(2689-2691)aAg>aGg	p.K897R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K897R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	913					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGGCTCCAGAAGGGCAAAGCC	0.667000													6	24					0	0	0.001168	0	0
OR5B21	219968	broad.mit.edu	37	11	58275298	58275298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58275298C>T	ENST00000360374.2	-	1	280	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGCTGCACATCCATCGTAGGA	0.547000													5	9					0	0	0.000602	0	0
PRDM9	56979	broad.mit.edu	37	5	23523410	23523410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:23523410G>A	ENST00000296682.3	+	9	1075	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	298	SET.				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						ATCACCAAGGGGAGAAACTGC	0.438000										HNSCC(3;0.000094)			28	62					0	0	0.001786	0	0
DNAH17	8632	broad.mit.edu	37	17	76421531	76421531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:76421531G>A	ENST00000389840.5	-	80	13230	c.13106C>T	c.(13105-13107)cCc>cTc	p.P4369L	DNAH17_ENST00000585328.1_Missense_Mutation_p.P4341L|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTGTCCAGGGGCCACTCGTT	0.597000													20	51					0	0	0.001882	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802564	185802564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:185802564G>A	ENST00000302277.6	+	4	3035	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	814						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACGGAGGCGAAAAAGAGGC	0.398000													27	79					0	0	0.007291	0	0
TCF4	6925	broad.mit.edu	37	18	53017618	53017618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:53017618C>T	ENST00000354452.3	-	8	1132	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000356073.4_Missense_Mutation_p.R174Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	174					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAACTTTTCGAACTTTCTT	0.368000													12	23					0	0	0.001855	0	0
C1orf172	126695	broad.mit.edu	37	1	27278512	27278512	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:27278512C>T	ENST00000320567.5	-	2	448	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	120										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCAGTCCCCTCAGTGGAGT	0.672000													10	6					0	0	0.000978	0	0
PGK2	5232	broad.mit.edu	37	6	49754132	49754132	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754132G>A	ENST00000304801.3	-	1	921	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	257					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.L257M(1)		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)					TCATCAAACAGGGAAGCACCA	0.393000													38	61					0	0	0.004289	0	0
FOXN2	3344	broad.mit.edu	37	2	48573700	48573700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:48573700C>T	ENST00000340553.3	+	3	608	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	116					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CCCCCATACTCCTTTAGTCTT	0.403000													27	91					0	0	0.007291	0	0
MIR377	494326	broad.mit.edu	37	14	101528447	101528447	+	RNA	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:101528447T>A	ENST00000362145.2	+	0	105					NR_029869.1																						CAAAGGCAACTTTTGTTTGAG	0.517000													19	46					0	0	0.007413	0	0
GP2	2813	broad.mit.edu	37	16	20335310	20335310	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20335310C>T	ENST00000302555.5	-	3	512	c.363G>A	c.(361-363)ctG>ctA	p.L121L	GP2_ENST00000381362.4_Silent_p.L121L|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	121						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTCCCATTCAGCCACATGG	0.582000													14	36					0	0	0.003163	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497183	1497183	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1497183C>T	ENST00000421627.2	+	2	458	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	187					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCAACCGCATCCCGGCCAACC	0.682000													4	9					0	0	0.000248	0	0
OR2M2	391194	broad.mit.edu	37	1	248343836	248343836	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248343836C>T	ENST00000359682.2	+	1	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			AATTCCCTTCCCTACTAATCC	0.413000													59	133					0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561591	84561591	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561591C>G	ENST00000286744.5	+	13	1642	c.1418C>G	c.(1417-1419)aCt>aGt	p.T473S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T473S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	473						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTTATGCAAACTTGTAATCTG	0.418000													18	33					0	0	0.002299	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665163	111665163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:111665163G>A	ENST00000374647.5	-	16	2117	c.1810C>T	c.(1810-1812)Cct>Tct	p.P604S	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P255S	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	604					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CATGGATAAGGAAACCGAACA	0.463000													15	53					0	0	0.007413	0	0
OR2M7	391196	broad.mit.edu	37	1	248487623	248487623	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:248487623A>G	ENST00000317965.2	-	1	276	c.248T>C	c.(247-249)tTc>tCc	p.F83S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CAAGTAGTTGAAGGCCATCTT	0.498000													66	145					0	0	0.003610	0	0
CYP1A2	1544	broad.mit.edu	37	15	75045535	75045535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75045535G>A	ENST00000343932.4	+	6	1240	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	393					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CACAACAAGGGACACAACGCT	0.557000													8	13					0	0	0.004482	0	0
ITGB1	3688	broad.mit.edu	37	10	33218799	33218799	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:33218799C>T	ENST00000396033.2	-	4	462	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ITGB1_ENST00000302278.3_Silent_p.E109E|ITGB1_ENST00000423113.1_Silent_p.E109E|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000374956.4_Silent_p.E109E	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	109					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GAGTAATATCCTCTGGCTTGA	0.423000													52	134					0	0	0.003610	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892544	205892544	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:205892544G>A	ENST00000367135.3	-	15	1691	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	SLC26A9_ENST00000367134.2_Silent_p.I526I|SLC26A9_ENST00000340781.4_Silent_p.I526I	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	526	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TAATCCCCTGGATATCCTGGG	0.488000													17	52					0	0	0.004990	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236042	33236042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33236042C>T	ENST00000401073.2	+	6	1332	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	KIAA1522_ENST00000373480.1_Missense_Mutation_p.S362F|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S373F|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	362	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CACTCTCAATCCTCCGACACC	0.647000													4	7					0	0	0.000602	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:33579230C>T	ENST00000228567.3	-	2	648	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	118						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408000													42	85					0	0	0.006230	0	0
NPAP1	23742	broad.mit.edu	37	15	24921504	24921504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:24921504G>A	ENST00000329468.2	+	1	964	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAAGAAGGATGAGGATCCGGT	0.622000													5	23					0	0	0.000602	0	0
GPR108	56927	broad.mit.edu	37	19	6734246	6734246	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6734246G>A	ENST00000264080.7	-	5	473	c.447C>T	c.(445-447)tcC>tcT	p.S149S	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	149						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCTGGTTTGGAGGGTGCTT	0.652000											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	39					0	0	0.004007	0	0
KCNT1	57582	broad.mit.edu	37	9	138662853	138662853	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:138662853G>A	ENST00000298480.5	+	18	1994	c.1920G>A	c.(1918-1920)gaG>gaA	p.E640E	KCNT1_ENST00000263604.3_Silent_p.E621E|KCNT1_ENST00000488444.2_Silent_p.E621E|KCNT1_ENST00000490355.2_Silent_p.E621E|KCNT1_ENST00000487664.1_Silent_p.E595E|KCNT1_ENST00000486577.2_Silent_p.E601E|KCNT1_ENST00000371757.2_Silent_p.E640E|KCNT1_ENST00000491806.2_Silent_p.E607E			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	640						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCAAGCAGGAGGAGAAGCGGA	0.647000													7	21					0	0	0.001984	0	0
PTPN11	5781	broad.mit.edu	37	12	112940036	112940036	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112940036G>T	ENST00000351677.2	+	14	1886	c.1688G>T	c.(1687-1689)tGt>tTt	p.C563F		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	567					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTCCCGCCTTGTACTCCAACG	0.413000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				38	81					3.54909e-21	5.59703e-21	0.002852	1	0
ARPP21	10777	broad.mit.edu	37	3	35732379	35732379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:35732379C>T	ENST00000187397.4	+	9	1024	c.568C>T	c.(568-570)Cag>Tag	p.Q190*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.Q190*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.Q190*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	190	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAGTTCCCTCAGATGTCATC	0.343000													24	38					0	0	0.005443	0	0
NEB	4703	broad.mit.edu	37	2	152376255	152376255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152376255C>T	ENST00000397345.3	-	154	22709	c.22507G>A	c.(22507-22509)Gaa>Aaa	p.E7503K	NEB_ENST00000604864.1_Missense_Mutation_p.E7503K|NEB_ENST00000409198.1_Missense_Mutation_p.E5802K|NEB_ENST00000172853.10_Missense_Mutation_p.E5802K|NEB_ENST00000427231.2_Missense_Mutation_p.E7503K|NEB_ENST00000603639.1_Missense_Mutation_p.E7503K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5802					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)		TTGCCCTTTTCTTTATCGAAA	0.348000													22	83					0	0	0.003330	0	0
GBP1P1	400759	broad.mit.edu	37	1	89875863	89875863	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:89875863G>A	ENST00000513638.1	+	0	85					NR_003133.2																						TTGCAGACAAGGGAACACCCC	0.433000													12	35					0	0	0.000978	0	0
STAG1	10274	broad.mit.edu	37	3	136152423	136152423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:136152423G>A	ENST00000383202.2	-	16	1881	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	STAG1_ENST00000434713.2_Missense_Mutation_p.P316L|STAG1_ENST00000236698.5_Missense_Mutation_p.P542L|STAG1_ENST00000536929.1_Missense_Mutation_p.P126L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	542					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCTTCCCACTGGAGGATGTGC	0.378000													19	56					0	0	0.002780	0	0
TMC5	79838	broad.mit.edu	37	16	19505676	19505676	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:19505676G>A	ENST00000396229.2	+	20	3668	c.2919G>A	c.(2917-2919)agG>agA	p.R973R	TMC5_ENST00000564959.1_Silent_p.R656R|TMC5_ENST00000561503.1_Silent_p.R614R|TMC5_ENST00000542583.2_Silent_p.R973R|TMC5_ENST00000541464.1_Silent_p.R921R|TMC5_ENST00000381414.4_Silent_p.R915R|TMC5_ENST00000219821.5_Silent_p.R727R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	973						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCTGGAAAGGAGAGAGGTGG	0.498000													25	64					0	0	0.003330	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188388	70188388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:70188388C>T	ENST00000320256.4	-	1	1009	c.433G>A	c.(433-435)Gag>Aag	p.E145K		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	145					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCCAGGGCCTCTCCTCTGAGG	0.562000													10	22					0	0	0.006214	0	0
C15orf27	123591	broad.mit.edu	37	15	76430138	76430138	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:76430138G>A	ENST00000388942.3	+	3	405	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	43						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCAGCTGGTGAACTTTGCCT	0.527000													31	46					0	0	0.002096	0	0
AQR	9716	broad.mit.edu	37	15	35166930	35166930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:35166930G>A	ENST00000156471.5	-	29	3598	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1125						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTCCAACGCGAACAAAGCGA	0.428000													10	52					0	0	0.006214	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:119943007C>T	ENST00000327554.2	+	7	1247	c.782C>T	c.(781-783)tCg>tTg	p.S261L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	261										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567000													49	102					0	0	0.003610	0	0
TCF25	22980	broad.mit.edu	37	16	89965178	89965178	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:89965178C>T	ENST00000263346.8	+	11	1175	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L	TCF25_ENST00000263347.7_Silent_p.L138L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	373					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGAAGTCTCGAGCCGGATG	0.647000													7	20					0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152128862	152128862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128862G>A	ENST00000316073.3	-	3	777	c.713C>T	c.(712-714)tCt>tTt	p.S238F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	238	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAATGAGAATCCTGAAT	0.403000													71	114					0	0	0.003610	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042853	75042853	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75042853G>A	ENST00000343932.4	+	2	837	c.774G>A	c.(772-774)caG>caA	p.Q258Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	258					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTTCAACCAGAGGTTCCTGT	0.597000													19	32					0	0	0.002780	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927577	10927577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10927577G>A	ENST00000283141.6	+	17	1713	c.1417G>A	c.(1417-1419)Ggg>Agg	p.G473R	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	473						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACCTGTtattggggaacctgc	0.438000													6	12					0	0	0.001984	0	0
PBX1	5087	broad.mit.edu	37	1	164761949	164761949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:164761949C>T	ENST00000420696.2	+	3	672	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	PBX1_ENST00000559240.1_Missense_Mutation_p.H162Y|PBX1_ENST00000401534.1_Missense_Mutation_p.H162Y|PBX1_ENST00000540236.1_Missense_Mutation_p.H162Y|PBX1_ENST00000367897.1_Missense_Mutation_p.H162Y|PBX1_ENST00000540246.1_Missense_Mutation_p.H57Y|PBX1_ENST00000560641.1_Missense_Mutation_p.H57Y	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	162					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACAAATCTACCATACGGAGCT	0.582000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								10	30					0	0	0.001368	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967453	133967453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:133967453G>A	ENST00000298622.4	+	18	2311	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCTGGACGAGGAGCTGGACTA	0.627000													16	36					0	0	0.004990	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484744	97484744	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:97484744G>A	ENST00000376705.2	+	2	732	c.707_splice	c.e2-1	p.R236_splice		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	236						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TTTCTTCTAGGAATTTCTATT	0.403000													7	26					0	0	0.003080	0	0
SPAM1	6677	broad.mit.edu	37	7	123594488	123594488	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:123594488T>G	ENST00000340011.5	+	3	1221	c.864T>G	c.(862-864)gtT>gtG	p.V288V	SPAM1_ENST00000460182.1_Silent_p.V288V|SPAM1_ENST00000439500.1_Silent_p.V288V|SPAM1_ENST00000223028.7_Silent_p.V288V|SPAM1_ENST00000402183.2_Silent_p.V288V	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	288					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CCATCAGAGTTTCCAAAATAC	0.403000													11	22					0	0	0.000978	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776451	159776451	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:159776451G>A	ENST00000393975.3	-	3	720	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	194	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAAGTAGTAGATCCCAGGCA	0.587000													16	36					0	0	0.003163	0	0
KDM3B	51780	broad.mit.edu	37	5	137754837	137754837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137754837C>T	ENST00000314358.5	+	14	3831	c.3631C>T	c.(3631-3633)Cct>Tct	p.P1211S	KDM3B_ENST00000542866.1_Missense_Mutation_p.P243S|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000394866.1_Missense_Mutation_p.P867S	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1211					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CATCAGGCCTCCTTGCCCTGA	0.502000													9	28					0	0	0.006214	0	0
COL22A1	169044	broad.mit.edu	37	8	139707092	139707092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139707092C>T	ENST00000303045.6	-	33	3069	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.D875N	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	875	Collagen-like 7.|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)			AGGCCTGGATCGCCCTTCTCT	0.602000										HNSCC(7;0.00092)			5	37					0	0	0.001168	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7535057	7535057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7535057C>T	ENST00000359920.6	+	19	3648	c.3395C>T	c.(3394-3396)tCc>tTc	p.S1132F	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1090_1090insS|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.S974F	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1132	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GACAGCCCCTCCGAGGGCTTC	0.726000													19	51					0	0	0.001882	0	0
ADAM7	8756	broad.mit.edu	37	8	24344783	24344783	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:24344783C>T	ENST00000175238.6	+	11	1127	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	ADAM7_ENST00000520720.1_Silent_p.F120F|ADAM7_ENST00000380789.1_Silent_p.F348F|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	348	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			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)		ATGACGAGTTCCCATGCACCT	0.428000													11	27					0	0	0.001368	0	0
FHIT	2272	broad.mit.edu	37	3	59738022	59738022	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:59738022A>T	ENST00000468189.1	-	9	744	c.374T>A	c.(373-375)tTt>tAt	p.F125Y	FHIT_ENST00000341848.4_Missense_Mutation_p.F125Y|FHIT_ENST00000492590.1_Missense_Mutation_p.F125Y|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Missense_Mutation_p.F125Y			P49789	FHIT_HUMAN	fragile histidine triad	125					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		AGAGGCAGGAAAGTCCTCCTT	0.502000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				45	27					0	0	0.003610	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458502	45458502	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:45458502C>T	ENST00000548424.1	+	0	448																											ACTATGGATTCATTCCCCCTG	0.507000													10	13					0	0	0.006214	0	0
PIPSL	266971	broad.mit.edu	37	10	95721272	95721272	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:95721272C>T	ENST00000480546.1	-	0	25					NR_002319.2																						GCAGCCCCCTCCCCCTCAAGG	0.592000													14	55					0	0	0.004007	0	0
AGPS	8540	broad.mit.edu	37	2	178346790	178346790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:178346790C>T	ENST00000264167.4	+	11	1255	c.1109C>T	c.(1108-1110)aCt>aTt	p.T370I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	370	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGGAACTCTTGGTGTA	0.323000													9	28					0	0	0.006214	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049657	36049657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36049657C>T	ENST00000379919.4	-	1	1175	c.619G>A	c.(619-621)Ggt>Agt	p.G207S	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	207					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGATTGAAACCTTCCGCCTTG	0.642000													23	41					0	0	0.003954	0	0
ADD3	120	broad.mit.edu	37	10	111881987	111881987	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111881987C>T	ENST00000277900.8	+	9	1445	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S	ADD3_ENST00000360162.3_Silent_p.S360S|ADD3_ENST00000356080.4_Silent_p.S360S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	360						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATATGGGTTCCCATCAAAAAT	0.423000													22	47					0	0	0.002780	0	0
DNAH9	1770	broad.mit.edu	37	17	11738140	11738140	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11738140G>A	ENST00000262442.3	+	49	9500	c.9432G>A	c.(9430-9432)aaG>aaA	p.K3144K	DNAH9_ENST00000454412.2_Silent_p.K3144K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3144	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAGCAGAAGGACTGTGAGG	0.552000													10	19					0	0	0.006214	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080196	70080196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70080196G>A	ENST00000446444.1	-	1	253	c.245C>T	c.(244-246)aCt>aTt	p.T82I	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	82					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						TTCAGTTTTAGTTAAAGATGT	0.348000													20	88					0	0	0.002299	0	0
RBM15B	29890	broad.mit.edu	37	3	51429942	51429942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51429942C>T	ENST00000323686.4	+	1	1212	c.1112C>T	c.(1111-1113)cCt>cTt	p.P371L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	371	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATCAAGAGGCCTGCCCGTGGC	0.582000													36	10					0	0	0.004289	0	0
FAM9B	171483	broad.mit.edu	37	X	8995992	8995992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:8995992G>A	ENST00000362066.3	-	6	717	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	FAM9B_ENST00000327220.5_Nonsense_Mutation_p.Q137*|FAM9B_ENST00000428477.1_Nonsense_Mutation_p.Q137*			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	137						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TTCTTCTGTTGTTCTTGAAAT	0.328000													29	26					0	0	0.006320	0	0
COL20A1	57642	broad.mit.edu	37	20	61944589	61944589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61944589C>T	ENST00000422202.1	+	16	2286	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	COL20A1_ENST00000326996.6_Missense_Mutation_p.R733C|COL20A1_ENST00000358894.6_Missense_Mutation_p.R733C|COL20A1_ENST00000435874.1_Missense_Mutation_p.R740C			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	733	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGTGTCCCTCCGCTATACCCC	0.677000													9	17					0	0	0.001855	0	0
LRRN1	57633	broad.mit.edu	37	3	3887440	3887440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:3887440C>T	ENST00000319331.3	+	2	1876	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	372	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATAGCAATCCCCTCAGGTGT	0.488000													26	47					0	0	0.001512	0	0
HEG1	57493	broad.mit.edu	37	3	124689557	124689557	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:124689557A>C	ENST00000311127.4	-	17	4152	c.4085T>G	c.(4084-4086)tTc>tGc	p.F1362C		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1362						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTGTCCGGGGAAAATGCAAGA	0.488000													5	13					0	0	0.001168	0	0
SCFD1	23256	broad.mit.edu	37	14	31142536	31142536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:31142536C>T	ENST00000458591.2	+	12	1296	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SCFD1_ENST00000544052.2_Nonsense_Mutation_p.R290*|SCFD1_ENST00000421551.3_Nonsense_Mutation_p.R298*|SCFD1_ENST00000541123.1_Nonsense_Mutation_p.R172*|SCFD1_ENST00000396629.2_Nonsense_Mutation_p.R265*	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	357					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TGAGGTCAAACGACTTAAAAG	0.348000													23	49					0	0	0.005443	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417759	150417759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150417759G>A	ENST00000307194.5	+	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTACTCCAACGAGGTGTATGA	0.701000													7	4					0	0	0.003080	0	0
REV3L	5980	broad.mit.edu	37	6	111678278	111678278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:111678278C>T	ENST00000435970.1	-	20	7705	c.6889G>A	c.(6889-6891)Gaa>Aaa	p.E2297K	REV3L_ENST00000368805.1_Missense_Mutation_p.E2375K|REV3L_ENST00000358835.3_Missense_Mutation_p.E2375K|REV3L_ENST00000368802.3_Missense_Mutation_p.E2375K			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2375					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGGTGACTTCGAGTCCTGTA	0.274000								DNA polymerases (catalytic subunits)					19	111					0	0	0.002780	0	0
LPPR1	54886	broad.mit.edu	37	9	104048505	104048505	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:104048505C>T	ENST00000374874.3	+	4	811	c.372C>T	c.(370-372)atC>atT	p.I124I	LPPR1_ENST00000395056.2_Silent_p.I124I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		124						integral to membrane	catalytic activity										TTCGAAGGATCATAAGATTCA	0.373000													22	30					0	0	0.001523	0	0
MORC1	27136	broad.mit.edu	37	3	108723946	108723946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:108723946C>T	ENST00000232603.5	-	19	2066	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	MORC1_ENST00000483760.1_Missense_Mutation_p.E641K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	662					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGACATTTTCTGGCAGAGCT	0.348000													34	77					0	0	0.003271	0	0
NAA25	80018	broad.mit.edu	37	12	112481522	112481522	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:112481522C>T	ENST00000261745.4	-	18	2405	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	719						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGAGGATACCCCATTCTCGG	0.478000													32	75					0	0	0.003271	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	G	A	rs150323691		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:145379738G>A	ENST00000511217.1	+	2	548	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E166K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000													26	38					0	0	0.006320	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926794	45926794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:45926794C>T	ENST00000395629.2	+	11	2357	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.S686F			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	686	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CTGGCAGAGTCCGTGGGGTAC	0.642000													6	22					0	0	0.001984	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55406863	55406863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:55406863C>T	ENST00000398661.2	-	3	405	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.E62K|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.E62K|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.E62K|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.E62K|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.E62K	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	92							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.E92K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTACCTTTTCATTCTGCAAT	0.313000													6	26					0	0	0.004482	0	0
DAB1	1600	broad.mit.edu	37	1	57611083	57611083	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57611083G>A	ENST00000371236.2	-	3	350	c.87C>T	c.(85-87)gcC>gcT	p.A29A	DAB1_ENST00000371231.1_Silent_p.A29A|DAB1_ENST00000439789.2_Silent_p.A29A|DAB1_ENST00000371230.1_Silent_p.A29A|DAB1_ENST00000414851.2_Silent_p.A29A|DAB1_ENST00000371234.4_Silent_p.A29A|DAB1_ENST00000420954.2_Silent_p.A29A|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	29					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTATCAAAGTGGCTTCACTGC	0.453000													18	39					0	0	0.001882	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370494	187370494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:187370494C>T	ENST00000337859.6	+	8	1119	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ZC3H15_ENST00000544130.1_Missense_Mutation_p.R93C	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	298						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	p.R298C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTTGAATTTCGTCCTGAACT	0.418000													22	31					0	0	0.003330	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653936	43653936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43653936C>T	ENST00000396976.2	-	5	2028	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.E242K|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.E243K|ZSCAN29_ENST00000562072.1_3'UTR	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	632					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		AAGCTCTTCTCCGGGAGTGTC	0.463000													49	98					0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107450519	107450519	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107450519T>G	ENST00000409382.3	-	3	1637	c.1027A>C	c.(1027-1029)Atc>Ctc	p.I343L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.I343L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.I343L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	343					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAATTAATGATGCGTATGGTG	0.398000													36	83					0	0	0.006999	0	0
TSR3	115939	broad.mit.edu	37	16	1400075	1400075	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1400075G>A	ENST00000007390.2	-	4	793	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		CCTCCTCCTGGGGGCTCTCCT	0.667000													7	8					0	0	0.003080	0	0
NBEA	26960	broad.mit.edu	37	13	36220044	36220044	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36220044C>T	ENST00000379922.3	+	4	802	c.327C>T	c.(325-327)ttC>ttT	p.F109F	NBEA_ENST00000537702.1_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron			Q8NFP9	NBEA_HUMAN	neurobeachin	2539						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCCACACTTTCCTTCTTACAA	0.333000													6	8					0	0	0.003080	0	0
IGFL2	147920	broad.mit.edu	37	19	46664135	46664135	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46664135A>T	ENST00000434646.2	+	4	662	c.371A>T	c.(370-372)gAa>gTa	p.E124V	IGFL2_ENST00000377693.4_Missense_Mutation_p.E113V|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	113						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)		AGTAAATGTGAAAGGTAGGGA	0.527000													13	30					0	0	0.001855	0	0
C5orf51	285636	broad.mit.edu	37	5	41917118	41917118	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41917118G>A	ENST00000381647.2	+	6	621	c.601_splice	c.e6-1	p.G201_splice		NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	201										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ACTTTCCCAGGAATATTTAGT	0.343000													21	52					0	0	0.001882	0	0
DUOX1	53905	broad.mit.edu	37	15	45426452	45426452	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:45426452G>A	ENST00000321429.4	+	5	659	c.252G>A	c.(250-252)agG>agA	p.R84R	DUOX1_ENST00000389037.3_Silent_p.R84R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	84	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCATCTCAAGGGGCCCTGCAG	0.627000													4	23					0	0	0.000248	0	0
CCDC39	339829	broad.mit.edu	37	3	180378435	180378435	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:180378435A>G	ENST00000273654.4	-	10	1310	c.691T>C	c.(691-693)Tta>Cta	p.L231L	CCDC39_ENST00000442201.2_Silent_p.L147L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	147					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)			GATTCTTCTAACCAGGCCTCC	0.373000													11	14					0	0	0.000673	0	0
DCLK1	9201	broad.mit.edu	37	13	36382424	36382424	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:36382424C>T	ENST00000255448.4	-	14	2011	c.1800G>A	c.(1798-1800)caG>caA	p.Q600Q	DCLK1_ENST00000379893.1_Silent_p.Q293Q|DCLK1_ENST00000360631.3_Silent_p.Q600Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	600	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCATCAAAATCTGATCAAAAA	0.433000													38	113					0	0	0.002522	0	0
SYNE4	163183	broad.mit.edu	37	19	36497567	36497567	+	Missense_Mutation	SNP	C	C	T	rs149470089	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36497567C>T	ENST00000324444.3	-	5	736	c.625G>A	c.(625-627)Gag>Aag	p.E209K	SYNE4_ENST00000340477.5_Missense_Mutation_p.E96K	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		TTGGCCTCCTCGAACACCTGG	0.647000													10	21					0	0	0.000673	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862957	67862957	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:67862957G>A	ENST00000433211.1	-	14	2109	c.1935C>T	c.(1933-1935)gtC>gtT	p.V645V	CTNNA3_ENST00000373744.4_Silent_p.V645V	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	645					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGTGACTGCGGACCTCGTGTT	0.468000													16	62					0	0	0.006122	0	0
ZNF831	128611	broad.mit.edu	37	20	57829592	57829592	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57829592A>G	ENST00000371030.2	+	5	4828	c.4828A>G	c.(4828-4830)Agt>Ggt	p.S1610G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1610						intracellular	nucleic acid binding|zinc ion binding	p.S1610C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCTTTAGGAAGTGACGGTAG	0.498000													43	55					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9061857	9061857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9061857C>T	ENST00000397910.4	-	3	25792	c.25589G>A	c.(25588-25590)gGa>gAa	p.G8530E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8532	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						GTGTGAAAATCCTGGAGATGC	0.522000													24	50					0	0	0.003330	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192116	125192116	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:125192116G>A	ENST00000431078.1	+	5	949	c.585G>A	c.(583-585)caG>caA	p.Q195Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	195	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTTCAATCAGAAGTTGATGA	0.458000													23	56					0	0	0.004656	0	0
CEP95	90799	broad.mit.edu	37	17	62504836	62504836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62504836C>T	ENST00000556440.2	+	2	656	c.146C>T	c.(145-147)cCa>cTa	p.P49L	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Missense_Mutation_p.P49L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	49						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAAAAGGTACCAGGTAAGAAT	0.294000													27	125					0	0	0.001512	0	0
KRT15	3866	broad.mit.edu	37	17	39672365	39672365	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39672365G>A	ENST00000254043.3	-	4	4476	c.891C>T	c.(889-891)ttC>ttT	p.F297F	KRT15_ENST00000393974.3_Silent_p.F132F|KRT15_ENST00000393976.2_Silent_p.F297F|KRT15_ENST00000393981.3_Silent_p.F132F	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	297	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCTTGCTGAAGAACCAGGCCT	0.637000													34	57					0	0	0.003755	0	0
RSPRY1	89970	broad.mit.edu	37	16	57269052	57269052	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57269052C>T	ENST00000537866.1	+	14	2419	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Silent_p.L516L			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	516						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCGTCTTGCTCTGTTGAAGCA	0.418000													15	37					0	0	0.003163	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442661	25442661	+	RNA	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:25442661G>T	ENST00000424208.1	+	0	1636				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGAGCTGTGGTGAGCACATC	0.567000													8	51					0.000157383	0.000244708	0.003080	1	0
SKAP2	8935	broad.mit.edu	37	7	26766572	26766572	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26766572T>A	ENST00000345317.2	-	7	836	c.523A>T	c.(523-525)Aac>Tac	p.N175Y	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.N3Y	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	175	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTTAGAGTGTTATTCATTCTG	0.318000													24	66					0	0	0.003330	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634643	70634643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70634643C>T	ENST00000381269.2	-	2	1250	c.497G>A	c.(496-498)gGa>gAa	p.G166E	SLC8A3_ENST00000534137.1_Missense_Mutation_p.G166E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G166E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G166E|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G166E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	166					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)		GGTAGAAGGTCCCAGATCACC	0.502000													19	49					0	0	0.001216	0	0
MRPL1	65008	broad.mit.edu	37	4	78815335	78815335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:78815335C>T	ENST00000315567.8	+	6	930	c.601C>T	c.(601-603)Cca>Tca	p.P201S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	201							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CGTAGCTGTTCCAGAAATAAT	0.318000													44	188					0	0	0.003610	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150530542	150530542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150530542G>A	ENST00000271643.4	+	14	2535	c.2299G>A	c.(2299-2301)Gga>Aga	p.G767R	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G767R|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G790R|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.G767R	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	767	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGCGCTGTGGACATCTCCC	0.677000													48	76					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:228437821C>T	ENST00000570156.2	+	15	4539	c.4465C>T	c.(4465-4467)Cga>Tga	p.R1489*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R1397*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R1397*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	467	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672000													36	54					0	0	0.005524	0	0
PAX6	5080	broad.mit.edu	37	11	31815066	31815066	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:31815066T>C	ENST00000419022.1	-	12	1462	c.994A>G	c.(994-996)Aca>Gca	p.T332A	PAX6_ENST00000379129.2_Missense_Mutation_p.T332A|PAX6_ENST00000379123.5_Missense_Mutation_p.T318A|PAX6_ENST00000379115.4_Missense_Mutation_p.T332A|PAX6_ENST00000379111.2_Missense_Mutation_p.T318A|PAX6_ENST00000379132.3_Missense_Mutation_p.T318A|PAX6_ENST00000379107.2_Missense_Mutation_p.T332A|PAX6_ENST00000241001.8_Missense_Mutation_p.T318A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	318	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GCTGTGTCTGTTCGGCCCAAC	0.537000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				41	76					0	0	0.002222	0	0
EPHA7	2045	broad.mit.edu	37	6	94120643	94120643	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:94120643C>T	ENST00000369303.4	-	3	592	c.408G>A	c.(406-408)agG>agA	p.R136R	EPHA7_ENST00000369297.1_Silent_p.R136R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	136						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)		CTCTTATATTCCTGCCAGTGT	0.383000													32	62					0	0	0.002096	0	0
ENPP4	22875	broad.mit.edu	37	6	46107693	46107693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:46107693C>T	ENST00000321037.4	+	2	603	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	125						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACCAATCAGCTTCAGGAAAA	0.418000													22	94					0	0	0.002780	0	0
EFCAB2	84288	broad.mit.edu	37	1	245245421	245245421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:245245421G>A	ENST00000366522.2	+	5	769	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	EFCAB2_ENST00000366523.1_Missense_Mutation_p.E74K|EFCAB2_ENST00000447569.2_Missense_Mutation_p.E74K|EFCAB2_ENST00000487845.1_3'UTR			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	210							calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CATTCGATTCGAAAAATTTCT	0.323000													27	72					0	0	0.001512	0	0
RIPK3	11035	broad.mit.edu	37	14	24808666	24808666	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24808666T>C	ENST00000216274.5	-	2	376	c.158A>G	c.(157-159)aAc>aGc	p.N53S	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	53	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CACTCACGAGTTTACGATCTT	0.597000													41	76					0	0	0.002522	0	0
TMEM168	64418	broad.mit.edu	37	7	112424755	112424755	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:112424755G>C	ENST00000312814.5	-	2	686	c.126C>G	c.(124-126)atC>atG	p.I42M	TMEM168_ENST00000454074.1_Missense_Mutation_p.I42M	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	42						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAATAAATTGATTCTGGCTA	0.333000													20	35					0	0	0.001523	0	0
DLGAP2	9228	broad.mit.edu	37	8	1581164	1581164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:1581164C>T	ENST00000421627.2	+	5	1656	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	587					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGAATGTATTCCCATGATGAC	0.557000													10	38					0	0	0.000673	0	0
BZW2	28969	broad.mit.edu	37	7	16737780	16737780	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:16737780C>T	ENST00000433922.2	+	10	1255	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A	BZW2_ENST00000407633.1_Silent_p.A165A|BZW2_ENST00000405202.1_Silent_p.A283A|BZW2_ENST00000258761.3_Silent_p.A359A|AC073333.8_ENST00000418907.1_RNA	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	359	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding	p.A359V(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCATGAAAGCCTTTCAGAAGA	0.498000													59	85					0	0	0.003610	0	0
FMOD	2331	broad.mit.edu	37	1	203316946	203316946	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:203316946G>A	ENST00000354955.4	-	2	916	c.453C>T	c.(451-453)ttC>ttT	p.F151F	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	151					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCAGCTTGGAGAAGACCTTCC	0.597000													23	62					0	0	0.002780	0	0
UBE3B	89910	broad.mit.edu	37	12	109947476	109947476	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:109947476C>T	ENST00000342494.3	+	16	2293	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	UBE3B_ENST00000434735.2_Silent_p.F566F|UBE3B_ENST00000535900.1_Intron|UBE3B_ENST00000280774.5_Silent_p.F566F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	566					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCTCCTCTTTCCTGAATTCTT	0.408000													30	50					0	0	0.007291	0	0
PTPRC	5788	broad.mit.edu	37	1	198676022	198676022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:198676022C>T	ENST00000367376.2	+	9	1010	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PTPRC_ENST00000594404.1_Missense_Mutation_p.S119F|PTPRC_ENST00000442510.2_Missense_Mutation_p.S282F|PTPRC_ENST00000352140.3_Missense_Mutation_p.S232F|PTPRC_ENST00000348564.6_Missense_Mutation_p.S121F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	280					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCGTCTGTTTCCATATCTCAT	0.303000													57	91					0	0	0.003610	0	0
ZNF283	284349	broad.mit.edu	37	19	44352504	44352504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44352504C>T	ENST00000324461.7	+	7	2048	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ZNF283_ENST00000588797.1_Missense_Mutation_p.S445L	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AGTTGGGGTTCAAGCCTAGTT	0.418000													13	45					0	0	0.001368	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161832	57161832	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:57161832G>A	ENST00000371244.4	+	6	854	c.788_splice	c.e6+1	p.R263_splice		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	263	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAAGACATAAGGTGATTTTTC	0.383000													34	108					0	0	0.002836	0	0
ERMN	57471	broad.mit.edu	37	2	158178156	158178156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:158178156C>T	ENST00000410096.1	-	3	773	c.482G>A	c.(481-483)gGa>gAa	p.G161E	ERMN_ENST00000535935.1_Missense_Mutation_p.G55E|ERMN_ENST00000397283.2_Missense_Mutation_p.G174E|ERMN_ENST00000420719.2_Missense_Mutation_p.G141E	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	161						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TTTTCGAAATCCCAGCCATTC	0.428000													38	100					0	0	0.006230	0	0
COL4A2	1284	broad.mit.edu	37	13	111138126	111138126	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:111138126C>T	ENST00000360467.5	+	34	3456	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1050	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCCAGGATTCCCTGGGGTGG	0.617000													8	30					0	0	0.006214	0	0
PTPN14	5784	broad.mit.edu	37	1	214557016	214557016	+	Missense_Mutation	SNP	G	G	A	rs143375730	by1000genomes	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214557016G>A	ENST00000366956.5	-	13	2376	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	728					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCTTCTCCCGGAGCATGGGG	0.612000													16	29					0	0	0.004007	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498076	32498076	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:32498076A>G	ENST00000266088.4	+	13	1767	c.1517A>G	c.(1516-1518)tAt>tGt	p.Y506C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.Y379C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	506					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GAGTTTGCTTATGGAACCGGG	0.478000													20	36					0	0	0.001216	0	0
DNAJC28	54943	broad.mit.edu	37	21	34860693	34860693	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34860693T>G	ENST00000314399.3	-	2	1446	c.1008A>C	c.(1006-1008)agA>agC	p.R336S	DNAJC28_ENST00000402202.1_Missense_Mutation_p.R336S|DNAJC28_ENST00000381947.3_Missense_Mutation_p.R336S	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	336				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TTTTCTGGGCTCTGACAATTT	0.343000													23	36					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	9009333	9009333	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9009333A>G	ENST00000397910.4	-	40	39343	c.39138_splice	c.e40-1	p.L13047_splice		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13049	SEA 7.				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						CAAGGGACCAAGCTGTGGAAA	0.547000													11	33					0	0	0.001855	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650087	51650087	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51650087C>T	ENST00000317643.6	+	5	1173	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.S275S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	368					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCTTCCTCTCCTTCTGTGTCA	0.587000													31	58					0	0	0.003755	0	0
DCLK3	85443	broad.mit.edu	37	3	36779922	36779922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:36779922C>T	ENST00000416516.2	-	2	719	c.229G>A	c.(229-231)Ggg>Agg	p.G77R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	77						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						GGGATCTTCCCCTGGTGCCTC	0.602000													44	87					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995424	140995424	+	Missense_Mutation	SNP	G	G	A	rs150635296		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:140995424G>A	ENST00000285879.4	+	4	2520	c.2234G>A	c.(2233-2235)aGt>aAt	p.S745N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	745							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)					AGTCCTGTGAGTATCTGCTCC	0.567000										HNSCC(15;0.026)			56	31					0	0	0.003610	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960447	33960447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:33960447C>T	ENST00000361328.3	+	8	2656	c.2503C>T	c.(2503-2505)Cca>Tca	p.P835S		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	835					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCCCAAAGCCCATCTTTTAG	0.473000													38	130					0	0	0.006230	0	0
DEFB110	245913	broad.mit.edu	37	6	49989597	49989597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49989597G>A	ENST00000371148.2	-	1	97	c.52C>T	c.(52-54)Cca>Tca	p.P18S	DEFB110_ENST00000393660.2_Missense_Mutation_p.P18S	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	18					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATATTACCTGGTAAAATTGTG	0.299000													13	28					0	0	0.004007	0	0
HELZ2	85441	broad.mit.edu	37	20	62203672	62203672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:62203672G>A	ENST00000467148.1	-	1	136	c.67C>T	c.(67-69)Cct>Tct	p.P23S	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TCGCCATCAGGGGCAGGGGGT	0.716000													9	8					0	0	0.006214	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586981	15586981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15586981G>A	ENST00000292609.4	-	2	629	c.500C>T	c.(499-501)gCc>gTc	p.A167V	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.A167V			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	167					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGGAGGTGGCTCTTACATC	0.542000													29	64					0	0	0.007291	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778626	5778626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:5778626G>A	ENST00000381624.3	+	22	2397	c.2336G>A	c.(2335-2337)aGg>aAg	p.R779K	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	779						integral to membrane											GCCACAGCCAGGGCAGGCACA	0.632000													27	53					0	0	0.002096	0	0
RP1L1	94137	broad.mit.edu	37	8	10467248	10467248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:10467248G>A	ENST00000382483.3	-	4	4583	c.4360C>T	c.(4360-4362)Cct>Tct	p.P1454S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1454					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)		AGATGACTAGGGGGCTCTGTG	0.637000													28	58					0	0	0.005443	0	0
OR4C12	283093	broad.mit.edu	37	11	50003455	50003455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:50003455G>A	ENST00000335238.4	-	1	616	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCAACAAAGAGACCAAGGGTA	0.408000													25	52					0	0	0.003954	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309994	154309994	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:154309994C>A	ENST00000368489.3	+	12	1107	c.1107C>A	c.(1105-1107)acC>acA	p.T369T	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.T355T|ATP8B2_ENST00000368487.3_Silent_p.T336T	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	355					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCAACACCGTTGTGCCCA	0.522000													6	213					0.000274275	0.000426158	0.004482	1	0
ADCY9	115	broad.mit.edu	37	16	4042190	4042190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:4042190C>T	ENST00000294016.3	-	5	2702	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	722					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCGTTTTCTCCCGGATGTTC	0.552000													20	57					0	0	0.002299	0	0
PTRH2	51651	broad.mit.edu	37	17	57774890	57774890	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:57774890C>T	ENST00000470557.2	-	1	3896	c.450G>A	c.(448-450)caG>caA	p.Q150Q	PTRH2_ENST00000409433.2_Silent_p.Q151Q|PTRH2_ENST00000537860.1_Silent_p.Q150Q|PTRH2_ENST00000393038.2_Silent_p.Q150Q			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	150					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGGTGCAATCTGAGTACGTC	0.458000													19	52					0	0	0.006122	0	0
SALL3	27164	broad.mit.edu	37	18	76752136	76752136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76752136G>A	ENST00000575389.2	+	2	145	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Missense_Mutation_p.E49K			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGGGCGAGGAGACCAGCGT	0.692000													7	8					0	0	0.004482	0	0
KRT36	8689	broad.mit.edu	37	17	39645717	39645717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39645717G>A	ENST00000393986.2	-	2	462	c.250C>T	c.(250-252)Cca>Tca	p.P84S	KRT36_ENST00000328119.6_Missense_Mutation_p.P134S			O76013	KRT36_HUMAN	keratin 36	134	Head.					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)				CAGATGTATGGGATCTGAAAC	0.582000													25	86					0	0	0.006320	0	0
SDK1	221935	broad.mit.edu	37	7	4014075	4014075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:4014075C>T	ENST00000404826.2	+	13	2031	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	SDK1_ENST00000389531.3_Missense_Mutation_p.S631F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	631	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGGACGGGTCCCTTCTCATC	0.572000													6	36					0	0	0.001984	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309020	75309020	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:75309020T>A	ENST00000361900.6	+	5	430	c.223T>A	c.(223-225)Ttt>Att	p.F75I	SCAMP5_ENST00000562212.1_Missense_Mutation_p.F75I|SCAMP5_ENST00000545456.1_Intron|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Missense_Mutation_p.F75I	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	75					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGGCCTCGCCTTTCTCTGGCT	0.602000													28	38					0	0	0.007291	0	0
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	742					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393000													18	73					0	0	0.001882	0	0
ACTB	60	broad.mit.edu	37	7	5569212	5569212	+	Missense_Mutation	SNP	G	G	A	rs11546929		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:5569212G>A	ENST00000331789.5	-	2	268	c.77C>T	c.(76-78)gCc>gTc	p.A26V		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	26					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGCCCGGGGGGCATCGTCGCC	0.721000													13	20					0	0	0.001855	0	0
KCNA4	3739	broad.mit.edu	37	11	30033267	30033267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:30033267G>A	ENST00000328224.6	-	2	2192	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	320						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S320Y(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GATGACAATGGAGATTAAGAT	0.483000													25	45					0	0	0.006320	0	0
DSP	1832	broad.mit.edu	37	6	7579632	7579632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:7579632C>T	ENST00000379802.3	+	23	3550	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	DSP_ENST00000418664.2_Missense_Mutation_p.S1070F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1070	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGAGTGTTCCCAGTTCAAA	0.507000													11	53					0	0	0.002450	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837739	93837739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93837739G>A	ENST00000315765.9	+	16	2736	c.2728G>A	c.(2728-2730)Gga>Aga	p.G910R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	910					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)				ATGCCGAAAAGGAGTCTTGAA	0.333000													22	52					0	0	0.005443	0	0
CR1	1378	broad.mit.edu	37	1	207741283	207741283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207741283G>A	ENST00000367049.4	+	25	4067	c.4067G>A	c.(4066-4068)aGa>aAa	p.R1356K	CR1_ENST00000400960.2_Missense_Mutation_p.R906K|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R906K|CR1_ENST00000367053.1_Missense_Mutation_p.R906K|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	906	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACCCAGACAGAGGGACGAGC	0.532000													35	156					0	0	0.002836	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047644	46047644	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:46047644G>C	ENST00000397911.3	+	1	605	c.556G>C	c.(556-558)Gtc>Ctc	p.V186L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	186	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CTGTGTGCCTGTCTGCTGTAA	0.597000													20	158					0	0	0.001523	0	0
PLG	5340	broad.mit.edu	37	6	161160103	161160103	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161160103C>T	ENST00000308192.9	+	16	1944	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	627	Peptidase S1.				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)	TTTCTAGGTCCCCAAGGCCTT	0.507000													24	46					0	0	0.006320	0	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:53612707G>A	ENST00000455735.2	-	7	1055	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF415_ENST00000243643.4_Silent_p.F197F|ZNF415_ENST00000500065.4_Silent_p.F197F|ZNF415_ENST00000440291.1_Silent_p.F184F|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.F209F|ZNF415_ENST00000448501.1_Silent_p.F245F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000594011.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378000													24	59					0	0	0.003954	0	0
SLC24A4	123041	broad.mit.edu	37	14	92922848	92922848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:92922848C>T	ENST00000532405.1	+	12	1377	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SLC24A4_ENST00000298877.1_Missense_Mutation_p.P367L|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P348L|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000393265.2_Missense_Mutation_p.P320L|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P365L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	384						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTGGAAAACCCCGAAGACCCT	0.602000											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	32					0	0	0.004007	0	0
PRDM12	59335	broad.mit.edu	37	9	133556642	133556642	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133556642C>T	ENST00000253008.2	+	5	750	c.690C>T	c.(688-690)ttC>ttT	p.F230F		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CAGAGGACTTCCACCCGGCGG	0.746000													5	11					0	0	0.001168	0	0
NFE2L1	4779	broad.mit.edu	37	17	46136644	46136644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46136644C>T	ENST00000362042.3	+	6	2576	c.1960C>T	c.(1960-1962)Ctc>Ttc	p.L654F	NFE2L1_ENST00000585291.1_Missense_Mutation_p.L624F|NFE2L1_ENST00000536222.1_Missense_Mutation_p.L498F|NFE2L1_ENST00000583378.1_Missense_Mutation_p.L455F|NFE2L1_ENST00000582155.1_Missense_Mutation_p.L466F|NFE2L1_ENST00000357480.5_Missense_Mutation_p.L624F|NFE2L1_ENST00000361665.3_Missense_Mutation_p.L643F	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	654					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGCTGAGCCTCATCCGAGA	0.542000													16	23					0	0	0.004007	0	0
CCDC150	284992	broad.mit.edu	37	2	197595583	197595583	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:197595583G>A	ENST00000389175.4	+	26	3118	c.2982_splice	c.e26-1	p.E995_splice	CCDC150_ENST00000272831.7_Splice_Site_p.E642_splice|CCDC150_ENST00000409270.1_Splice_Site_p.E482_splice	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	995										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACATTTTCAGGAATTGGAAGA	0.368000													10	9					0	0	0.000673	0	0
COL5A1	1289	broad.mit.edu	37	9	137717665	137717665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:137717665G>A	ENST00000371817.3	+	63	5396	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1661	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTAACCAAGGATGCTCCAGG	0.562000													20	35					0	0	0.003330	0	0
SORL1	6653	broad.mit.edu	37	11	121448082	121448082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121448082G>A	ENST00000260197.7	+	25	3682	c.3553G>A	c.(3553-3555)Gac>Aac	p.D1185N	SORL1_ENST00000532694.1_Missense_Mutation_p.D31N|SORL1_ENST00000534286.1_Missense_Mutation_p.D95N|SORL1_ENST00000525532.1_Missense_Mutation_p.D129N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1185	LDL-receptor class A 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)		CGACTGCAGGGACTGGTCTGA	0.522000													41	49					0	0	0.001951	0	0
PABPC5	140886	broad.mit.edu	37	X	90691122	90691122	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:90691122C>T	ENST00000312600.3	+	2	760	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PABPC5_ENST00000373105.1_Silent_p.F18F	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	182	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GATTCAAATTCCCAGAAGAGC	0.488000													7	11					0	0	0.001984	0	0
LPHN2	23266	broad.mit.edu	37	1	82453017	82453017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:82453017C>T	ENST00000370715.1	+	20	3718	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y	LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370713.1_Intron			O95490	LPHN2_HUMAN	latrophilin 2	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATTTATATCATTTAGAGGT	0.308000													7	54					0	0	0.003080	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55325198	55325198	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55325198G>A	ENST00000396284.2	+	7	924		c.e7+1		KIR2DL4_ENST00000357494.4_Splice_Site|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Splice_Site|KIR2DL4_ENST00000345540.5_Splice_Site|KIR2DL4_ENST00000346587.4_Splice_Site|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_Splice_Site|KIR2DL4_ENST00000396293.1_Splice_Site					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GAACAGGGAGGTAGGTCCTCC	0.517000													20	17					0	0	0.002780	0	0
APBA1	320	broad.mit.edu	37	9	72130931	72130931	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72130931C>T	ENST00000265381.4	-	2	1418	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	399	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACTTACATCTCCGTCCATCGG	0.632000													31	55					0	0	0.003271	0	0
PGAP3	93210	broad.mit.edu	37	17	37829086	37829086	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37829086C>T	ENST00000300658.4	-	8	1025	c.933G>A	c.(931-933)aaG>aaA	p.K311K	PGAP3_ENST00000579146.1_3'UTR|PGAP3_ENST00000429199.2_Silent_p.K290K|PGAP3_ENST00000378011.4_Silent_p.K260K	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	311					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTGATTCCTTCAGCAGGT	0.592000													18	31					0	0	0.002299	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187776	37187776	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:37187776C>T	ENST00000425901.2	+	0	1618					NR_033753.2																						ATTCTACACCCCTGAAGAAGA	0.493000													23	91					0	0	0.003330	0	0
PLAU	5328	broad.mit.edu	37	10	75673753	75673753	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:75673753G>A	ENST00000446342.1	+	7	1127	c.645G>A	c.(643-645)aaG>aaA	p.K215K	PLAU_ENST00000372762.4_Silent_p.K196K|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Silent_p.K232K	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	232	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ACCCAAAGAAGGAGGACTACA	0.493000													15	46					0	0	0.006122	0	0
NSRP1	84081	broad.mit.edu	37	17	28505103	28505103	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:28505103C>T	ENST00000247026.5	+	4	249	c.186C>T	c.(184-186)atC>atT	p.I62I	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	62					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AACTGGAAATCCAGAAGGCCC	0.323000													24	40					0	0	0.003330	0	0
GABRB3	2562	broad.mit.edu	37	15	26866567	26866567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:26866567G>A	ENST00000541819.2	-	5	625	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	GABRB3_ENST00000311550.5_Missense_Mutation_p.P119S|GABRB3_ENST00000299267.4_Missense_Mutation_p.P119S|GABRB3_ENST00000400188.3_Missense_Mutation_p.P48S|GABRB3_ENST00000545868.1_Missense_Mutation_p.P34S			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATGTGTCGGGCACCCATAGC	0.458000													15	61					0	0	0.003163	0	0
OR13C8	138802	broad.mit.edu	37	9	107332281	107332281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:107332281C>T	ENST00000335040.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCATTGAGGCCCTCATCTCC	0.423000													27	53					0	0	0.007291	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033461	103033461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:103033461C>T	ENST00000306312.3	-	10	1285	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	SLC26A5_ENST00000432958.2_Missense_Mutation_p.D342N|SLC26A5_ENST00000339444.6_Missense_Mutation_p.D342N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D342N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D305N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D342N|SLC26A5_ENST00000393735.2_Missense_Mutation_p.D342N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D342N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	342					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCAATGGCATCTACGTACACA	0.483000													19	37					0	0	0.006122	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923702	144923702	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144923702C>T	ENST00000529945.1	-	2	1684	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	PDE4DIP_ENST00000479408.2_Silent_p.E39E|PDE4DIP_ENST00000369349.3_Silent_p.E252E|PDE4DIP_ENST00000313382.9_Silent_p.E318E|PDE4DIP_ENST00000369354.3_Silent_p.E252E|PDE4DIP_ENST00000369356.4_Silent_p.E252E|PDE4DIP_ENST00000530740.1_Silent_p.E389E|PDE4DIP_ENST00000369351.3_Silent_p.E252E|PDE4DIP_ENST00000369359.4_Silent_p.E389E|PDE4DIP_ENST00000313431.9_Silent_p.E415E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	252					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTGGTGGCCTCTGTTTGCT	0.448000			T	PDGFRB	MPD								35	190					0	0	0.004878	0	0
PZP	5858	broad.mit.edu	37	12	9305511	9305511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:9305511C>T	ENST00000261336.2	-	31	4058	c.4030G>A	c.(4030-4032)Gac>Aac	p.D1344N	PZP_ENST00000381997.2_Missense_Mutation_p.D1130N	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						AATGGGGAGTCCTCTTTCTCT	0.443000													27	64					0	0	0.003954	0	0
PCLO	27445	broad.mit.edu	37	7	82584769	82584769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:82584769C>T	ENST00000423517.2	-	5	5837	c.5500G>A	c.(5500-5502)Gaa>Aaa	p.E1834K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1834K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1765					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						GATGCATCTTCAATGGGAGAG	0.428000													67	161					0	0	0.003610	0	0
CYTH4	27128	broad.mit.edu	37	22	37699361	37699361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37699361G>A	ENST00000248901.6	+	8	801	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	205	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CCCAACGTCCGGGACAGGCCG	0.612000													18	38					0	0	0.007413	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666847	150666847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150666847G>A	ENST00000335230.3	-	6	1079	c.668C>T	c.(667-669)aCc>aTc	p.T223I	SLC36A3_ENST00000377713.3_Missense_Mutation_p.T264I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	223						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCCCAAGGGTGGTGATGTT	0.512000													18	36					0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9063622	9063622	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9063622A>C	ENST00000397910.4	-	3	24027	c.23824T>G	c.(23824-23826)Tca>Gca	p.S7942A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7944	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						TGTGAGTGTGAAAATCCTTGA	0.458000													25	67					0	0	0.002780	0	0
CACNA1A	773	broad.mit.edu	37	19	13409669	13409669	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13409669C>T	ENST00000360228.5	-	19	2777	c.2778G>A	c.(2776-2778)ggG>ggA	p.G926G	CACNA1A_ENST00000573710.2_Silent_p.G927G	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	927					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)	GGTGGGGGTCCCCGGCCTTGC	0.771000													6	13					0	0	0.001984	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748929	70748929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:70748929G>A	ENST00000361983.4	+	1	443	c.341G>A	c.(340-342)gGg>gAg	p.G114E		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	114					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGTCGGCGGGGGAGGAGCAC	0.682000													11	34					0	0	0.000673	0	0
AKNA	80709	broad.mit.edu	37	9	117139684	117139684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:117139684C>T	ENST00000307564.4	-	3	564	c.403G>A	c.(403-405)Gag>Aag	p.E135K	AKNA_ENST00000374088.3_Missense_Mutation_p.E135K|AKNA_ENST00000374075.5_Missense_Mutation_p.E54K|AKNA_ENST00000312033.3_Missense_Mutation_p.E135K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCAGCCTCCTCAACCTCCAGA	0.607000													16	22					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141528474	141528474	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141528474G>A	ENST00000389484.3	-	34	6573	c.5602C>T	c.(5602-5604)Caa>Taa	p.Q1868*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1868	EGF-like 4.				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)		CGGTTCTTTTGGAGATAATAT	0.383000										TSP Lung(27;0.18)			29	78					0	0	0.002096	0	0
IGF1	3479	broad.mit.edu	37	12	102811659	102811659	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:102811659C>T	ENST00000307046.8	-	4	706	c.525G>A	c.(523-525)aaG>aaA	p.K175K	IGF1_ENST00000456098.1_Intron|IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000337514.6_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	175					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTGCTCTTTCTTCTTTCCTC	0.468000													106	254					0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	56035908	56035908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:56035908C>T	ENST00000244728.5	-	4	1056	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	COL21A1_ENST00000370819.1_Missense_Mutation_p.R220Q|COL21A1_ENST00000535941.1_Missense_Mutation_p.R220Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	220					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTGGAATTCGTGTTGGACA	0.323000													34	93					0	0	0.002222	0	0
LRP2	4036	broad.mit.edu	37	2	170048483	170048483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:170048483C>T	ENST00000263816.3	-	48	9176	c.8891G>A	c.(8890-8892)aGg>aAg	p.R2964K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2964	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGAATGCACCTCCTGTCCGG	0.473000													26	47					0	0	0.004656	0	0
TNS1	7145	broad.mit.edu	37	2	218682684	218682684	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:218682684G>A	ENST00000171887.4	-	24	4511	c.4059C>T	c.(4057-4059)ttC>ttT	p.F1353F	TNS1_ENST00000419504.1_Silent_p.F1340F|TNS1_ENST00000430930.1_Silent_p.F1332F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1353						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGAGACAGGGAAGGAGGGCG	0.652000													4	8					0	0	0.000602	0	0
FAM111A	63901	broad.mit.edu	37	11	58919326	58919326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:58919326C>T	ENST00000528737.1	+	5	3003	c.185C>T	c.(184-186)tCa>tTa	p.S62L	FAM111A_ENST00000533703.1_Missense_Mutation_p.S62L|FAM111A_ENST00000420244.1_Missense_Mutation_p.S62L|FAM111A_ENST00000531147.1_Missense_Mutation_p.S62L|FAM111A_ENST00000361723.3_Missense_Mutation_p.S62L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	62					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGATTCCATTCACCTAAGAAA	0.403000													47	71					0	0	0.002852	0	0
RXFP2	122042	broad.mit.edu	37	13	32349493	32349493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:32349493G>A	ENST00000298386.2	+	7	679	c.608G>A	c.(607-609)gGa>gAa	p.G203E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G203E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	203						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTCAGACCTGGAATATTCAAA	0.358000													15	64					0	0	0.001216	0	0
NLRC5	84166	broad.mit.edu	37	16	57060774	57060774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57060774C>T	ENST00000436936.1	+	6	2144	c.1919C>T	c.(1918-1920)cCc>cTc	p.P640L	NLRC5_ENST00000262510.6_Missense_Mutation_p.P640L|NLRC5_ENST00000308149.7_Missense_Mutation_p.P640L|NLRC5_ENST00000539144.1_Missense_Mutation_p.P640L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	640					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TATCAACTGCCCTTCCACAAT	0.582000													14	37					0	0	0.001855	0	0
COIL	8161	broad.mit.edu	37	17	55027768	55027768	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:55027768A>G	ENST00000240316.4	-	2	869	c.835T>C	c.(835-837)Tta>Cta	p.L279L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	279						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TCCTTTGATAACTCAGTTGGT	0.448000													33	57					0	0	0.003755	0	0
LINGO4	339398	broad.mit.edu	37	1	151774361	151774361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:151774361G>A	ENST00000368820.3	-	2	1757	c.820C>T	c.(820-822)Cac>Tac	p.H274Y		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	274						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCTGAGGTGGTACAGTGCT	0.627000													12	35					0	0	0.001368	0	0
EIF3F	8665	broad.mit.edu	37	11	8013684	8013684	+	Silent	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:8013684T>A	ENST00000533626.1	+	5	1115	c.489T>A	c.(487-489)gtT>gtA	p.V163V	EIF3F_ENST00000309828.4_Silent_p.V163V|EIF3F_ENST00000449102.2_Silent_p.V14V|EIF3F_ENST00000537635.1_Silent_p.V178V			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	163	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATAAAAAAGTTTCTCCAAATG	0.473000													9	28					0	0	0.000673	0	0
CEP78	84131	broad.mit.edu	37	9	80880377	80880377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:80880377C>T	ENST00000424347.2	+	14	2004	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	CEP78_ENST00000376597.4_Missense_Mutation_p.P573L|CEP78_ENST00000415759.2_Missense_Mutation_p.P573L|CEP78_ENST00000376598.2_Missense_Mutation_p.P572L|CEP78_ENST00000277082.5_Missense_Mutation_p.P572L			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	572					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GTTAGTAATCCACCTAAAGAA	0.438000													7	7					0	0	0.001984	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611871	42611871	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:42611871G>A	ENST00000276410.2	-	5	826	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CHRNA6_ENST00000534622.1_Silent_p.S142S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	157						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCATAGGGCAGGAACTCTTAA	0.393000													31	72					0	0	0.002096	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212270	26212270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:26212270C>T	ENST00000379034.1	+	2	456	c.307C>T	c.(307-309)Cct>Tct	p.P103S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	103	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCGTTCCTCAGGAGTC	0.522000													39	15					0	0	0.002222	0	0
CDHR1	92211	broad.mit.edu	37	10	85961648	85961648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:85961648G>A	ENST00000372117.3	+	7	714	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDHR1_ENST00000332904.3_Missense_Mutation_p.R204Q	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	204	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAGAGGTCCCGGACCCACTAC	0.592000													4	14					0	0	0.000602	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333708	47333708	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:47333708G>A	ENST00000505841.1	-	0	980					NR_002788.2																						AGCAGTAAAAGATCCAGGAGA	0.453000													12	13					0	0	0.000978	0	0
ZP2	7783	broad.mit.edu	37	16	21213473	21213473	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:21213473C>T	ENST00000574002.1	-	12	1721	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Silent_p.G413G|ZP2_ENST00000219593.4_Silent_p.G413G			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	413	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ACCGTACCAGCCCCTGAGACT	0.512000													7	24					0	0	0.001984	0	0
PPEF2	5470	broad.mit.edu	37	4	76781931	76781931	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:76781931G>A	ENST00000286719.7	-	17	2507	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	717	EF-hand 3.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGCCTCCAGGAACTCATTGA	0.493000													6	29					0	0	0.001984	0	0
MYOM3	127294	broad.mit.edu	37	1	24383871	24383871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24383871C>T	ENST00000330966.7	-	37	4468	c.4306G>A	c.(4306-4308)Gag>Aag	p.E1436K	MYOM3_ENST00000338909.5_Missense_Mutation_p.E326K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1433K|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1433										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTCTTCAGCTCCTTGGGCTCG	0.582000													14	8					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	3224591	3224591	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3224591G>A	ENST00000602557.1	-	21	3636	c.3081C>T	c.(3079-3081)ttC>ttT	p.F1027F	CSMD1_ENST00000542608.1_Silent_p.F1026F|CSMD1_ENST00000539096.1_Silent_p.F1026F|CSMD1_ENST00000520002.1_Silent_p.F1027F|CSMD1_ENST00000602723.1_Silent_p.F1027F|CSMD1_ENST00000537824.1_Silent_p.F1026F|CSMD1_ENST00000400186.3_Silent_p.F1027F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1027	CUB 6.					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)		ACGAAATTGAGAAGTCTGATA	0.488000													11	20					0	0	0.001368	0	0
PGK2	5232	broad.mit.edu	37	6	49754646	49754646	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:49754646G>A	ENST00000304801.3	-	1	407	c.255C>T	c.(253-255)ctC>ctT	p.L85L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	85					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)					GCAAGGATTTGAGCTCAACAG	0.512000													20	59					0	0	0.001523	0	0
UNC5D	137970	broad.mit.edu	37	8	35608148	35608148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:35608148G>A	ENST00000287272.2	+	12	1797	c.1777G>A	c.(1777-1779)Gac>Aac	p.D593N	UNC5D_ENST00000449677.1_Missense_Mutation_p.D238N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D657N|UNC5D_ENST00000404895.2_Missense_Mutation_p.D662N|UNC5D_ENST00000420357.1_Missense_Mutation_p.D595N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D667N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	662	ZU5.				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)		CTGCCTTTTGGACCCCTTTGC	0.478000													22	75					0	0	0.005443	0	0
C20orf194	25943	broad.mit.edu	37	20	3321290	3321290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3321290G>A	ENST00000453730.2	-	1	318	c.59C>T	c.(58-60)tCt>tTt	p.S20F	C20orf194_ENST00000252032.9_Intron			Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	279										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTTAGGGCTAGAGAGGGAAGT	0.463000													23	32					0	0	0.002780	0	0
ZFHX3	463	broad.mit.edu	37	16	72827388	72827388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72827388C>T	ENST00000268489.5	-	9	9865	c.9193G>A	c.(9193-9195)Gaa>Aaa	p.E3065K	ZFHX3_ENST00000397992.5_Missense_Mutation_p.E2151K	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3065					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)				TCAAAGTATTCTTTCTCCTTG	0.498000													28	100					0	0	0.003755	0	0
MEP1B	4225	broad.mit.edu	37	18	29797885	29797885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29797885G>A	ENST00000269202.6	+	14	2095	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	MEP1B_ENST00000581447.1_Missense_Mutation_p.R683H	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	683					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						AAGAAATATCGTGAAAGGATG	0.408000													16	42					0	0	0.004990	0	0
ZNF549	256051	broad.mit.edu	37	19	58049273	58049273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58049273G>A	ENST00000376233.3	+	4	1082	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.E288K|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTAGAGAAAGGTCTTA	0.423000													13	42					0	0	0.002450	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994339	83994339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:83994339C>T	ENST00000343939.2	+	5	1002	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	OSGIN1_ENST00000393306.1_Missense_Mutation_p.R124W|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R124W|OSGIN1_ENST00000565123.1_Missense_Mutation_p.R124W			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	207					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						GGTTCTGGGCCGGAACCTCCC	0.657000													6	18					0	0	0.004482	0	0
PAK1IP1	55003	broad.mit.edu	37	6	10705067	10705067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:10705067C>T	ENST00000379568.3	+	7	1021	c.730C>T	c.(730-732)Cat>Tat	p.H244Y		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	244					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATTTAAAGCTCATGAAAACAG	0.358000													26	59					0	0	0.003954	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796338	42796338	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:42796338C>T	ENST00000314073.5	+	6	443	c.267C>T	c.(265-267)ctC>ctT	p.L89L	GLTSCR1L_ENST00000394168.1_Silent_p.L89L					GLTSCR1-like																		AAGATGAACTCGAGTCTTCTC	0.473000													7	43					0	0	0.001984	0	0
ZNF582	147948	broad.mit.edu	37	19	56895604	56895604	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56895604G>A	ENST00000301310.4	-	5	1340	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	ZNF582_ENST00000586929.1_Silent_p.P394P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P394P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACATTGGTAGGGTTTCTCTC	0.423000													25	49					0	0	0.004656	0	0
CDCA7	83879	broad.mit.edu	37	2	174230214	174230214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:174230214C>T	ENST00000306721.3	+	7	1032	c.929C>T	c.(928-930)tCa>tTa	p.S310L	CDCA7_ENST00000410019.3_Missense_Mutation_p.S189L|CDCA7_ENST00000392567.2_Missense_Mutation_p.S231L|CDCA7_ENST00000347703.3_Missense_Mutation_p.S231L|CDCA7_ENST00000410101.3_Missense_Mutation_p.S266L	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	231	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CGCTCCAGATCATCCGTGACC	0.438000													38	57					0	0	0.002852	0	0
KMT2D	8085	broad.mit.edu	37	12	49434302	49434302	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:49434302G>A	ENST00000301067.7	-	31	7250	c.7251C>T	c.(7249-7251)tcC>tcT	p.S2417S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTGGACTGGGACTGAGGAC	0.642000													10	27					0	0	0.006214	0	0
NOP9	161424	broad.mit.edu	37	14	24769719	24769719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24769719C>T	ENST00000267425.3	+	2	446	c.353C>T	c.(352-354)cCc>cTc	p.P118L	NOP9_ENST00000396802.3_Missense_Mutation_p.P118L	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		GGATTCAGTCCCTTGAAACCG	0.522000													25	51					0	0	0.003954	0	0
VPS13D	55187	broad.mit.edu	37	1	12331142	12331142	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:12331142C>T	ENST00000358136.3	+	17	2194	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	VPS13D_ENST00000356315.4_Silent_p.I688I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	688					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGCAGAAATCCGGCAAACTC	0.473000													25	22					0	0	0.003954	0	0
EIF3B	8662	broad.mit.edu	37	7	2409304	2409304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:2409304C>T	ENST00000360876.4	+	10	1657	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	EIF3B_ENST00000397011.2_Missense_Mutation_p.P534L	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GATAGGACTCCGAAAGGCACC	0.483000													27	28					0	0	0.006320	0	0
KCNH5	27133	broad.mit.edu	37	14	63416913	63416913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63416913C>T	ENST00000322893.7	-	7	1575	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	KCNH5_ENST00000420622.2_Missense_Mutation_p.G436E|KCNH5_ENST00000394968.1_Missense_Mutation_p.G378E|KCNH5_ENST00000394964.2_Missense_Mutation_p.G378E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	436					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)		AGCTATGTTTCCAAATCCTAT	0.398000													23	42					0	0	0.002299	0	0
MMP2	4313	broad.mit.edu	37	16	55522468	55522468	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:55522468G>A	ENST00000219070.4	+	6	1355	c.846G>A	c.(844-846)atG>atA	p.M282I	MMP2_ENST00000437642.2_Missense_Mutation_p.M232I|MMP2_ENST00000543485.1_Missense_Mutation_p.M206I|MMP2_ENST00000570308.1_Missense_Mutation_p.M206I	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	282	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGTTCACCATGGGCGGCAACG	0.612000													5	8					0	0	0.000602	0	0
BAI1	575	broad.mit.edu	37	8	143599524	143599524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:143599524C>T	ENST00000517894.1	+	19	3737	c.2843C>T	c.(2842-2844)tCg>tTg	p.S948L	BAI1_ENST00000323289.5_Missense_Mutation_p.S948L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	948					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTCTGCCGTCGGTGACGCTC	0.647000													16	51					0	0	0.001216	0	0
OR4A15	81328	broad.mit.edu	37	11	55136193	55136193	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55136193C>T	ENST00000314706.3	+	1	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCATTTTATTCTTTGTCCCCT	0.413000													53	141					0	0	0.003610	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36154224	36154224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:36154224G>A	ENST00000258840.6	-	20	3218	c.2828C>T	c.(2827-2829)cCt>cTt	p.P943L	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P909L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P896L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P896L			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	896					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCACTGGCAGGAGAAGTCCA	0.478000													7	14					0	0	0.006214	0	0
THBS3	7059	broad.mit.edu	37	1	155172102	155172102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:155172102C>T	ENST00000368378.3	-	9	1068	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.G230S|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_5'UTR|THBS3_ENST00000428962.2_Missense_Mutation_p.G200S|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	350	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGTGTGCCCTTGTACCCT	0.607000													17	44					0	0	0.007413	0	0
LRRC42	115353	broad.mit.edu	37	1	54417991	54417991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54417991C>T	ENST00000371370.3	+	3	840	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F	LRRC42_ENST00000319223.4_Missense_Mutation_p.L107F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	107										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CATTGATTCCCTTATTGGCTT	0.502000													17	67					0	0	0.001523	0	0
FMN2	56776	broad.mit.edu	37	1	240601493	240601493	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:240601493A>C	ENST00000319653.9	+	16	5273	c.5043A>C	c.(5041-5043)aaA>aaC	p.K1681N	FMN2_ENST00000545751.1_Missense_Mutation_p.K277N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1681	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGAACAAACTTCTTCTAC	0.403000													23	68					0	0	0.003330	0	0
ZNF285	26974	broad.mit.edu	37	19	44891250	44891250	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44891250T>C	ENST00000330997.4	-	4	1221	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	ZNF285_ENST00000591679.1_Missense_Mutation_p.N393S|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.N386S	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GACAAGAAGGTTGGAGCTCTG	0.463000													16	40					0	0	0.004007	0	0
GNRH2	2797	broad.mit.edu	37	20	3025445	3025445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:3025445C>T	ENST00000380347.2	+	2	659	c.254C>T	c.(253-255)tCc>tTc	p.S85F	GNRH2_ENST00000359100.2_Missense_Mutation_p.S85F|GNRH2_ENST00000245983.2_Missense_Mutation_p.S92F|GNRH2_ENST00000380346.2_Missense_Mutation_p.S84F|GNRH2_ENST00000359987.1_Missense_Mutation_p.S84F			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	92					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						GCCCAGTGGTCCCTTCACAGG	0.647000													11	24					0	0	0.001368	0	0
TPTE	7179	broad.mit.edu	37	21	10951345	10951345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:10951345G>A	ENST00000298232.7	-	9	680	c.313C>T	c.(313-315)Cct>Tct	p.P105S	TPTE_ENST00000342420.5_Missense_Mutation_p.P85S|TPTE_ENST00000361285.4_Missense_Mutation_p.P123S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	123					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TACTCCAAAGGAATATAAAGT	0.323000													21	119					0	0	0.001523	0	0
ATM	472	broad.mit.edu	37	11	108236211	108236211	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108236211C>T	ENST00000278616.4	+	63	9532	c.9147C>T	c.(9145-9147)ttC>ttT	p.F3049F	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.F3049F|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	3049	FATC.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCGACTTTTCCCAGGATGGA	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	24					0	0	0.004007	0	0
ZFHX3	463	broad.mit.edu	37	16	72845856	72845856	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:72845856G>T	ENST00000268489.5	-	6	4283	c.3611C>A	c.(3610-3612)tCt>tAt	p.S1204Y	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S290Y	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1204					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)				AGAGAGGGGAGACTCTGAGCT	0.532000													35	90					1.06647e-15	1.67887e-15	0.003755	1	0
FAAH2	158584	broad.mit.edu	37	X	57458368	57458368	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:57458368A>C	ENST00000374900.4	+	8	1134	c.1014A>C	c.(1012-1014)gaA>gaC	p.E338D		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	338						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTCACCTTGAAACTATTCTAG	0.383000										HNSCC(52;0.14)			17	14					0	0	0.004007	0	0
MEGF8	1954	broad.mit.edu	37	19	42839300	42839300	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:42839300C>T	ENST00000334370.4	+	4	1307	c.672C>T	c.(670-672)gcC>gcT	p.A224A	MEGF8_ENST00000251268.6_Silent_p.A224A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	224						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)				GGGACCCTGCCTTCTCTGCCC	0.647000													9	16					0	0	0.004482	0	0
LIPK	643414	broad.mit.edu	37	10	90503072	90503072	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:90503072C>T	ENST00000404190.1	+	8	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	318					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TGATGCACTTCCATCAGGTAC	0.358000													5	15					0	0	0.001984	0	0
FBN3	84467	broad.mit.edu	37	19	8131010	8131010	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:8131010G>A	ENST00000600128.1	-	64	8637	c.8223C>T	c.(8221-8223)atC>atT	p.I2741I	FBN3_ENST00000270509.2_Silent_p.I2741I|FBN3_ENST00000601739.1_Silent_p.I2741I			Q75N90	FBN3_HUMAN	fibrillin 3	2741						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTCCGCGGACGATGACGTAGC	0.687000													20	44					0	0	0.001523	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206948	142206948	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142206948G>A	ENST00000426318.2	-	0	63																											TAGAAGAAGAGCCTGGTGCCC	0.547000													26	44					0	0	0.002445	0	0
CSPP1	79848	broad.mit.edu	37	8	68007876	68007876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:68007876C>T	ENST00000262210.5	+	6	890	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	322						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAGACCAGACCAAGATCCTGA	0.363000													12	48					0	0	0.001368	0	0
FASLG	356	broad.mit.edu	37	1	172634974	172634974	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:172634974C>T	ENST00000367721.2	+	4	848	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	222					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TCCCCAGGATCTGGTGATGAT	0.512000													24	48					0	0	0.007291	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772877	140772877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140772877C>T	ENST00000398604.2	+	1	497	c.497C>T	c.(496-498)tCc>tTc	p.S166F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTGAACTCCCTCCAGAGC	0.552000													19	35					0	0	0.001882	0	0
KCNH4	23415	broad.mit.edu	37	17	40322266	40322266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40322266C>T	ENST00000264661.3	-	8	1581	c.1249G>A	c.(1249-1251)Gtg>Atg	p.V417M	KCNH4_ENST00000607371.1_Missense_Mutation_p.V417M	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	417					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCCGCCCACCGAGCCATTG	0.632000													7	19					0	0	0.004482	0	0
IGHM	3507	broad.mit.edu	37	14	106321919	106321919	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:106321919C>T	ENST00000390559.2	-	0	314																											GCTCGGCAATCACTGCAGTGA	0.682000													23	9					0	0	0.002780	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923934	13923934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:13923934C>T	ENST00000254323.2	+	6	1325	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S96F	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	379							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGCAACTACTCCTTCGACGGC	0.627000													4	16					0	0	0.000602	0	0
LILRB1	10859	broad.mit.edu	37	19	55143575	55143575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:55143575C>T	ENST00000396331.1	+	6	905	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LILRB1_ENST00000434867.2_Missense_Mutation_p.S183F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S183F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S183F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S219F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S183F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S183F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S183F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S183F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S183F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S183F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	183	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCATCTTCTCCGTGGGCCCC	0.577000										HNSCC(37;0.09)			26	77					0	0	0.005443	0	0
SLC12A6	9990	broad.mit.edu	37	15	34528243	34528243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:34528243C>T	ENST00000354181.3	-	24	3692	c.3200G>A	c.(3199-3201)gGa>gAa	p.G1067E	SLC12A6_ENST00000560164.1_Missense_Mutation_p.G879E|SLC12A6_ENST00000451844.2_Missense_Mutation_p.G879E|SLC12A6_ENST00000558589.1_Missense_Mutation_p.G1058E|SLC12A6_ENST00000560611.1_Missense_Mutation_p.G1067E|SLC12A6_ENST00000397702.2_Missense_Mutation_p.G1008E|SLC12A6_ENST00000458406.2_Missense_Mutation_p.G1008E|SLC12A6_ENST00000558667.1_Missense_Mutation_p.G1067E|SLC12A6_ENST00000397707.2_Missense_Mutation_p.G1052E|SLC12A6_ENST00000290209.5_Missense_Mutation_p.G1016E			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1067					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTCCTGGAATCCTTCCATTGA	0.458000													17	81					0	0	0.001523	0	0
CHRNB4	1143	broad.mit.edu	37	15	78923522	78923522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78923522C>T	ENST00000261751.3	-	4	366	c.255G>A	c.(253-255)tgG>tgA	p.W85*	CHRNB4_ENST00000412074.2_Nonsense_Mutation_p.W85*|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	85					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GGTAATCAGTCCATTCCTGGA	0.572000													14	40					0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	41306746	41306746	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:41306746G>A	ENST00000373198.3	-	7	1148	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	PTPRT_ENST00000373193.3_Silent_p.L305L|PTPRT_ENST00000373184.1_Silent_p.L305L|PTPRT_ENST00000373190.1_Silent_p.L305L|PTPRT_ENST00000356100.2_Silent_p.L305L|PTPRT_ENST00000373187.1_Silent_p.L305L|PTPRT_ENST00000373201.1_Silent_p.L305L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	305	Fibronectin type-III 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)				TTGATCCACAGGTATGTGGCC	0.542000													36	30					0	0	0.005524	0	0
CNOT1	23019	broad.mit.edu	37	16	58580365	58580365	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58580365T>C	ENST00000317147.5	-	29	4198	c.3866A>G	c.(3865-3867)aAc>aGc	p.N1289S	CNOT1_ENST00000569240.1_Missense_Mutation_p.N1284S|CNOT1_ENST00000245138.4_Missense_Mutation_p.N140S|CNOT1_ENST00000441024.2_Missense_Mutation_p.N1289S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1289					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAATGCAAGGTTCTTGCAGAG	0.348000													23	48					0	0	0.003330	0	0
NOBOX	135935	broad.mit.edu	37	7	144098309	144098309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:144098309G>A	ENST00000467773.1	-	4	673	c.674C>T	c.(673-675)tCa>tTa	p.S225L	NOBOX_ENST00000483238.1_Missense_Mutation_p.S225L|NOBOX_ENST00000223140.5_Missense_Mutation_p.S140L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	225					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGCACGGGCTGAGTTAGGGGC	0.592000													7	18					0	0	0.006214	0	0
CENPI	2491	broad.mit.edu	37	X	100403133	100403133	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:100403133G>T	ENST00000372927.1	+	19	2354	c.2077G>T	c.(2077-2079)Gtt>Ttt	p.V693F	CENPI_ENST00000218507.5_Missense_Mutation_p.V693F|CENPI_ENST00000423383.1_Missense_Mutation_p.V693F	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	693					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GAGTTACGCTGTTTCCTTTTT	0.328000													39	25					6.2361e-21	9.83104e-21	0.007835	1	0
TEAD3	7005	broad.mit.edu	37	6	35454263	35454263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:35454263G>A	ENST00000402886.3	-	2	278	c.125C>T	c.(124-126)tCc>tTc	p.S42F	TEAD3_ENST00000338863.7_Silent_p.I59I			Q99594	TEAD3_HUMAN	TEA domain family member 3	0					female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CGTCTGACAGGATGATCTTCC	0.692000													11	28					0	0	0.001368	0	0
SULF2	55959	broad.mit.edu	37	20	46365559	46365559	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:46365559G>A	ENST00000359930.4	-	3	1154	c.303C>T	c.(301-303)gtC>gtT	p.V101V	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.V101V|SULF2_ENST00000361612.4_Silent_p.V101V|SULF2_ENST00000484875.1_Silent_p.V101V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	101					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGTGGTTGTGGACGTACTTGC	0.602000													21	32					0	0	0.001882	0	0
EHD4	30844	broad.mit.edu	37	15	42245963	42245963	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42245963G>A	ENST00000220325.4	-	2	495	c.413_splice	c.e2+1	p.R138_splice		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	138					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GGTCCTTACCGATTCAGGAAA	0.458000													30	63					0	0	0.003271	0	0
C3orf67	200844	broad.mit.edu	37	3	58870409	58870409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:58870409C>T	ENST00000295966.7	-	7	705	c.202G>A	c.(202-204)Gat>Aat	p.D68N	RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_5'UTR|C3orf67_ENST00000482387.1_Missense_Mutation_p.D68N|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	68										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GTAGGCTCATCTGTTGAAAAG	0.368000													66	40					0	0	0.003610	0	0
NID2	22795	broad.mit.edu	37	14	52520456	52520456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:52520456G>A	ENST00000216286.5	-	5	1269	c.1270C>T	c.(1270-1272)Cca>Tca	p.P424S	NID2_ENST00000541773.1_Missense_Mutation_p.P371S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	424						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTCCATCTGGGTAGGGCTGG	0.552000													25	49					0	0	0.003330	0	0
PANX3	116337	broad.mit.edu	37	11	124489711	124489711	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124489711G>A	ENST00000284288.2	+	4	1126	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	353					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTGTGTTGAAGGATACAACCA	0.438000													35	76					0	0	0.004289	0	0
SCARA5	286133	broad.mit.edu	37	8	27729540	27729540	+	Nonsense_Mutation	SNP	C	C	A	rs141131600		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:27729540C>A	ENST00000354914.3	-	9	1884	c.1399G>T	c.(1399-1401)Gaa>Taa	p.E467*	SCARA5_ENST00000380385.2_Nonsense_Mutation_p.E242*	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	467	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		AAGATGGTTTCCTCTGTGCCC	0.552000													16	34					1.02788e-11	1.61353e-11	0.004990	1	0
STXBP5L	9515	broad.mit.edu	37	3	120957858	120957858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:120957858G>A	ENST00000273666.6	+	13	1496	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E409K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E409K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E409K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E409K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	409					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGACATTCATGAATCACCAGT	0.313000													25	63					0	0	0.002780	0	0
LILRB5	10990	broad.mit.edu	37	19	54754889	54754889	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597000													3	17					0	0	0.001984	0	0
SLC9C1	285335	broad.mit.edu	37	3	111988878	111988878	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111988878G>A	ENST00000305815.5	-	7	912	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SLC9C1_ENST00000487372.1_Silent_p.F220F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	220					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCCAAACAAGAAACTTGCTA	0.318000													45	126					0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186086672	186086672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186086672G>A	ENST00000271588.4	+	77	11994	c.11765G>A	c.(11764-11766)gGa>gAa	p.G3922E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3922E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3922	Ig-like C2-type 38.				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						ACTGCTTCGGGAGTTCCATTT	0.453000													26	44					0	0	0.003330	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637651	65637651	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65637651G>T	ENST00000307998.6	-	6	778	c.548C>A	c.(547-549)tCc>tAc	p.S183Y	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S183Y	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	183	EGF-like 3; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCAGCGGAAGGAGCCAGGCAG	0.672000													20	59					2.37509e-13	3.73494e-13	0.001523	1	0
ADRBK1	156	broad.mit.edu	37	11	67052645	67052645	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:67052645A>T	ENST00000308595.5	+	20	2181	c.1891A>T	c.(1891-1893)Att>Ttt	p.I631F	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	631	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAACAGTTCATTTTGCAGTG	0.637000													50	104					0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2797631	2797631	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2797631C>T	ENST00000399655.1	+	46	6068	c.5803C>T	c.(5803-5805)Ctg>Ttg	p.L1935L	CACNA1C_ENST00000399644.1_Silent_p.L1935L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399621.1_Silent_p.L1954L|CACNA1C_ENST00000399641.1_Silent_p.L1935L|CACNA1C_ENST00000344100.3_Silent_p.L1976L|CACNA1C_ENST00000399597.1_Silent_p.L1935L|CACNA1C_ENST00000399617.1_Silent_p.L1970L|CACNA1C_ENST00000399591.1_Silent_p.L1943L|CACNA1C_ENST00000399629.1_Silent_p.L1952L|CACNA1C_ENST00000399634.1_Silent_p.L2006L|CACNA1C_ENST00000347598.4_Silent_p.L1983L|CACNA1C_ENST00000399595.1_Silent_p.L1943L|CACNA1C_ENST00000402845.3_Silent_p.L1954L|CACNA1C_ENST00000327702.7_Silent_p.L1970L|CACNA1C_ENST00000399601.1_Silent_p.L1935L|CACNA1C_ENST00000399638.1_Silent_p.L1963L|CACNA1C_ENST00000406454.3_Silent_p.L2006L|CACNA1C_ENST00000335762.5_Silent_p.L1960L|CACNA1C_ENST00000399649.1_Silent_p.L1941L|CACNA1C_ENST00000399606.1_Silent_p.L1955L|CACNA1C_ENST00000399603.1_Silent_p.L1935L|CACNA1C_ENST00000399637.1_Silent_p.L1954L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2018					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGTGGCAGGCCTGAGCCCCCT	0.632000													15	50					0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95500960	95500960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:95500960G>A	ENST00000297591.5	-	24	5488	c.5413C>T	c.(5413-5415)Cgt>Tgt	p.R1805C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1805					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)			CGTACATGACGACCTCTACCA	0.448000													44	87					0	0	0.003610	0	0
TRPM6	140803	broad.mit.edu	37	9	77377950	77377950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:77377950C>T	ENST00000451710.3	-	26	3874	c.3637G>A	c.(3637-3639)Gat>Aat	p.D1213N	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1208N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1213N|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1208N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1213N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCAGAGAGATCCTGCAGGTGT	0.468000													25	60					0	0	0.006320	0	0
GPR112	139378	broad.mit.edu	37	X	135453592	135453592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:135453592C>T	ENST00000394143.1	+	14	7793	c.7502C>T	c.(7501-7503)tCa>tTa	p.S2501L	GPR112_ENST00000370652.1_Missense_Mutation_p.S2501L|GPR112_ENST00000287534.4_Missense_Mutation_p.S2299L|GPR112_ENST00000394141.1_Missense_Mutation_p.S2296L|GPR112_ENST00000412101.1_Missense_Mutation_p.S2296L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGATATTTCACAATGTGAT	0.338000													27	11					0	0	0.004656	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927050	130927050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:130927050C>T	ENST00000261655.4	-	8	959	c.796G>A	c.(796-798)Gac>Aac	p.D266N	RIMBP2_ENST00000536002.1_Missense_Mutation_p.D174N|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D174N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	266						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAGTGGAGGTCCAGGATGTGC	0.592000													32	58					0	0	0.003271	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664346	151664346	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151664346A>G	ENST00000392800.2	+	2	269	c.15A>G	c.(13-15)atA>atG	p.I5M	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I5M	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	5						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAAATGCCATAATTCAAGGTT	0.353000													14	50					0	0	0.003163	0	0
ZNF827	152485	broad.mit.edu	37	4	146824293	146824293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:146824293G>A	ENST00000508784.1	-	2	345	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ZNF827_ENST00000379448.4_Missense_Mutation_p.P40S|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTCTGACGGAGTCTCTGAA	0.527000													25	60					0	0	0.002096	0	0
PSMD1	5707	broad.mit.edu	37	2	231936974	231936974	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231936974C>T	ENST00000308696.6	+	7	888	c.726C>T	c.(724-726)ctC>ctT	p.L242L	PSMD1_ENST00000409643.1_Silent_p.L242L|PSMD1_ENST00000373635.4_Silent_p.L242L	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AAGACAACCTCCTGATGGCAT	0.378000													42	90					0	0	0.002522	0	0
ZFP64	55734	broad.mit.edu	37	20	50769310	50769310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:50769310G>A	ENST00000216923.4	-	6	1770	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	ZFP64_ENST00000346617.4_Missense_Mutation_p.P420L|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.P472L	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CACAGTGAGGGGCGTGGCGGG	0.602000													27	54					0	0	0.005443	0	0
CSMD2	114784	broad.mit.edu	37	1	34164353	34164353	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34164353C>T	ENST00000373381.4	-	24	4101	c.3925_splice	c.e24+1	p.A1309_splice	CSMD2_ENST00000373380.1_Splice_Site_p.A182_splice|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1269	CUB 8.					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)				GCCCTCCTACCGACACAGGTG	0.612000													5	70					0	0	0.000602	0	0
EXPH5	23086	broad.mit.edu	37	11	108383402	108383402	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:108383402C>T	ENST00000265843.4	-	6	2942	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	EXPH5_ENST00000428840.1_Silent_p.E868E|EXPH5_ENST00000525344.1_Silent_p.E937E|EXPH5_ENST00000443411.1_Silent_p.E756E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	944					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TATCATTTCTCTCTTGGTTTT	0.393000													57	144					0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77612436	77612436	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:77612436C>T	ENST00000461745.1	+	11	2538	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	ROBO2_ENST00000487694.3_Silent_p.T562T|ROBO2_ENST00000332191.8_Silent_p.T546T	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	546	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGCCAGGTACCCCTGGAACCC	0.463000													15	49					0	0	0.001216	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516800	140516800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140516800C>T	ENST00000231134.5	+	1	2001	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		595	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGACTCGGGCCAGAAC	0.706000													18	57					0	0	0.006122	0	0
PEG3	5178	broad.mit.edu	37	19	57326279	57326279	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57326279G>A	ENST00000326441.9	-	10	3894	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PEG3_ENST00000423103.2_Silent_p.F1177F|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.F1053F|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.F1051F|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1177					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)		GCTCGAAAAGGAATGAGCTAT	0.443000													32	67					0	0	0.002445	0	0
GOT1	2805	broad.mit.edu	37	10	101163320	101163320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:101163320C>T	ENST00000370508.5	-	7	892	c.865G>A	c.(865-867)Gag>Aag	p.E289K	GOT1_ENST00000543866.1_Missense_Mutation_p.E268K	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	289					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACGATCTTCTCCATCTGGGAA	0.532000													32	57					0	0	0.002836	0	0
HSPG2	3339	broad.mit.edu	37	1	22161318	22161318	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:22161318A>G	ENST00000374695.3	-	77	10653	c.10574T>C	c.(10573-10575)gTt>gCt	p.V3525A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3525	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGCCCTCCAACTTTGCTCCA	0.627000													13	25					0	0	0.001855	0	0
AC005863.1	0	broad.mit.edu	37	17	14683245	14683245	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:14683245C>T	ENST00000379640.1	-	0	275																											TCCTCTGCTTCGGTGGAATAA	0.517000													26	39					0	0	0.005443	0	0
FAM135B	51059	broad.mit.edu	37	8	139160820	139160820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139160820C>T	ENST00000395297.1	-	14	3561	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1131								p.E1131K(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTTCTTCCTCTTCCTCTGGT	0.373000										HNSCC(54;0.14)			7	30					0	0	0.003080	0	0
RPTN	126638	broad.mit.edu	37	1	152128337	152128337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152128337G>A	ENST00000316073.3	-	3	1302	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	413	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTGTAGTGGGAACTCTGGCC	0.522000													195	328					0	0	0.003610	0	0
CCDC7	221016	broad.mit.edu	37	10	32856770	32856770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:32856770C>T	ENST00000362006.5	+	16	1913	c.1370C>T	c.(1369-1371)tCa>tTa	p.S457L	C10orf68_ENST00000375030.2_5'UTR|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375028.3_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.S457L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	457										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCACTGGTTTCAGATTCAGGT	0.343000													32	58					0	0	0.005524	0	0
POLG2	11232	broad.mit.edu	37	17	62481945	62481945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:62481945G>A	ENST00000539111.2	-	5	1077	c.1010C>T	c.(1009-1011)tCt>tTt	p.S337F	POLG2_ENST00000582501.1_5'UTR	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	337					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCCATTTACAGAGAGAACACA	0.388000													36	47					0	0	0.002222	0	0
SLC9A4	389015	broad.mit.edu	37	2	103148806	103148806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:103148806C>T	ENST00000295269.4	+	12	2513	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	686					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						CAGCAGTGATCCAGGATCCCC	0.453000													22	56					0	0	0.002299	0	0
KRT12	3859	broad.mit.edu	37	17	39022967	39022967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39022967G>A	ENST00000251643.4	-	1	495	c.472C>T	c.(472-474)Cga>Tga	p.R158*		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	158	Coil 1A.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TACCATTCTCGAATTTTATTT	0.388000													26	96					0	0	0.003954	0	0
CCDC19	25790	broad.mit.edu	37	1	159842754	159842754	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:159842754C>T	ENST00000426543.2	-	11	1757	c.1302G>A	c.(1300-1302)agG>agA	p.R434R	RP11-190A12.7_ENST00000544342.1_Silent_p.R17R|CCDC19_ENST00000368099.4_Silent_p.R519R|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	519						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CAAGCTTTTTCCTCTTGATCT	0.562000													24	33					0	0	0.002780	0	0
CNKSR1	10256	broad.mit.edu	37	1	26508373	26508373	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26508373T>A	ENST00000361530.6	+	4	563	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.F140I			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	140	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTTAAATGATTTCTCAGCATG	0.512000													14	62					0	0	0.004990	0	0
ACSM1	116285	broad.mit.edu	37	16	20636825	20636825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20636825C>T	ENST00000219151.4	-	12	1610	c.400G>A	c.(400-402)Gag>Aag	p.E134K	ACSM1_ENST00000307493.4_Missense_Mutation_p.E483K|ACSM1_ENST00000520010.1_Missense_Mutation_p.E483K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	483					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTTCAACCTCTGCAGGCCCG	0.612000													3	13					0	0	0.004672	0	0
CNR1	1268	broad.mit.edu	37	6	88854124	88854124	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854124G>A	ENST00000537554.1	-	2	4432	c.870C>T	c.(868-870)atC>atT	p.I290I	CNR1_ENST00000549716.1_Silent_p.I229I|CNR1_ENST00000369499.2_Silent_p.I290I|CNR1_ENST00000535130.1_Silent_p.I290I|CNR1_ENST00000549890.1_Silent_p.I290I|CNR1_ENST00000428600.2_Silent_p.I290I|CNR1_ENST00000468898.1_Silent_p.I257I|CNR1_ENST00000369501.2_Silent_p.I290I|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	290					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGCATACACGATGAACAGAA	0.507000													9	32					0	0	0.006214	0	0
WDR92	116143	broad.mit.edu	37	2	68368840	68368840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:68368840C>T	ENST00000295121.6	-	4	619	c.503G>A	c.(502-504)tGg>tAg	p.W168*	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Nonsense_Mutation_p.W168*|WDR92_ENST00000406245.2_Nonsense_Mutation_p.W67*	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	168					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TGCCACAGTCCAACAGTCTCT	0.393000													29	107					0	0	0.001512	0	0
RBM46	166863	broad.mit.edu	37	4	155718035	155718035	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155718035A>T	ENST00000510397.1	+	2	310	c.131A>T	c.(130-132)aAa>aTa	p.K44I	RBM46_ENST00000514866.1_Missense_Mutation_p.K44I|RBM46_ENST00000281722.3_Missense_Mutation_p.K44I	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	44							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGACAAAGGAAATTTGGCGGT	0.393000													7	49					0	0	0.003080	0	0
RBM15B	29890	broad.mit.edu	37	3	51429941	51429941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51429941C>T	ENST00000323686.4	+	1	1211	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	371	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CATCAAGAGGCCTGCCCGTGG	0.582000													36	9					0	0	0.004289	0	0
UNC79	57578	broad.mit.edu	37	14	94044293	94044293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94044293C>T	ENST00000553484.1	+	18	2471	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	UNC79_ENST00000256339.4_Missense_Mutation_p.R596C|UNC79_ENST00000393151.2_Missense_Mutation_p.R773C|UNC79_ENST00000555664.1_Missense_Mutation_p.R773C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	773						integral to membrane		p.R596C(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						TAGTCCGTTTCGTAGCCCTTT	0.433000													55	136					0	0	0.003610	0	0
VIT	5212	broad.mit.edu	37	2	37028483	37028483	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:37028483G>A	ENST00000379242.3	+	13	1400	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	VIT_ENST00000389975.3_Silent_p.T351T|VIT_ENST00000379241.3_Silent_p.T329T|VIT_ENST00000401530.1_Silent_p.T330T|VIT_ENST00000497382.1_Silent_p.T20T|VIT_ENST00000404084.1_Silent_p.T303T	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	351	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACACACACGAATTCTCGAG	0.393000													58	178					0	0	0.003610	0	0
TSPAN1	10103	broad.mit.edu	37	1	46649919	46649919	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:46649919C>T	ENST00000372003.1	+	4	578	c.114C>T	c.(112-114)tcC>tcT	p.S38S	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	38			S -> F (in dbSNP:rs2234267).			integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				ATGGGGCATCCTTTCTGAAGA	0.572000													17	62					0	0	0.001216	0	0
ABCA12	26154	broad.mit.edu	37	2	215872484	215872484	+	Silent	SNP	G	G	A	rs142281650		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:215872484G>A	ENST00000272895.7	-	19	2778	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ABCA12_ENST00000389661.4_Silent_p.F535F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	853					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTAACAGATGGAAGGAATTCA	0.378000													25	50					0	0	0.006320	0	0
MYOM3	127294	broad.mit.edu	37	1	24406673	24406673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:24406673C>T	ENST00000330966.7	-	20	2584	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	MYOM3_ENST00000374434.3_Missense_Mutation_p.D807N|MYOM3_ENST00000329601.7_Missense_Mutation_p.D807N|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	807	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTACATCGTACGGGGGG	0.602000													9	21					0	0	0.004482	0	0
SLC25A13	10165	broad.mit.edu	37	7	95838187	95838187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95838187C>T	ENST00000416240.2	-	5	621	c.431G>A	c.(430-432)aGa>aAa	p.R144K	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R36K|SLC25A13_ENST00000265631.5_Missense_Mutation_p.R144K	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	144	EF-hand 3.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGTCAGGTGTCTTTTTCTTTC	0.383000													29	68					0	0	0.007291	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882856	228882856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:228882856C>T	ENST00000392056.3	-	7	2760	c.2714G>A	c.(2713-2715)gGg>gAg	p.G905E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G905E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	905						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)		CAGGTCATCCCCTAACAAGGA	0.493000													59	81					0	0	0.003610	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709291	77709291	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:77709291C>T	ENST00000298351.4	+	15	1377	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	411						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCGCTTTATCGCAATCAACA	0.512000													18	46					0	0	0.001216	0	0
CLVS1	157807	broad.mit.edu	37	8	62212800	62212800	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:62212800G>A	ENST00000519846.1	+	3	886	c.414G>A	c.(412-414)agG>agA	p.R138R	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Silent_p.R138R			Q8IUQ0	CLVS1_HUMAN	clavesin 1	138	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATTACGGCAGGAAGATTCTTT	0.448000													12	30					0	0	0.001855	0	0
DOCK3	1795	broad.mit.edu	37	3	51198015	51198015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:51198015G>A	ENST00000266037.9	+	12	942	c.919G>A	c.(919-921)Ggt>Agt	p.G307S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	307						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)		CTCAAAGAAAGGTCCTCCTCA	0.488000													12	14					0	0	0.004007	0	0
COL4A4	1286	broad.mit.edu	37	2	227968696	227968696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:227968696C>T	ENST00000396625.3	-	13	1015	c.808G>A	c.(808-810)Gga>Aga	p.G270R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G270R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	270	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTTTTCTCCTTTATAGAGA	0.398000													12	25					0	0	0.000978	0	0
OR1J2	26740	broad.mit.edu	37	9	125273939	125273939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:125273939C>T	ENST00000335302.5	+	1	859	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CATGTTGAACCCCTTTATCTA	0.438000													27	70					0	0	0.006320	0	0
ZDHHC14	79683	broad.mit.edu	37	6	157963732	157963732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:157963732C>T	ENST00000359775.5	+	2	1250	c.361C>T	c.(361-363)Cca>Tca	p.P121S	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P121S			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	121						integral to membrane	acyltransferase activity|zinc ion binding	p.P121S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGTCCTCCCACGAGCCAC	0.602000													7	9					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152277329	152277329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277329C>T	ENST00000368799.1	-	3	10068	c.10033G>A	c.(10033-10035)Gga>Aga	p.G3345R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3345	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAATGTCCCTCACTATCA	0.587000									Ichthyosis				66	254					0	0	0.003610	0	0
IRF9	10379	broad.mit.edu	37	14	24621198	24621198	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:24621198C>T	ENST00000558468.1	+	3	552	c.552C>T	c.(550-552)aaC>aaT	p.N184N	RNF31_ENST00000382687.3_Silent_p.N558N|RNF31_ENST00000559275.1_Silent_p.N558N|RNF31_ENST00000324103.6_Silent_p.N709N																							TGCCCCACAACCGGGTAAGTC	0.597000													7	15					0	0	0.003080	0	0
ITPR3	3710	broad.mit.edu	37	6	33625713	33625713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33625713C>T	ENST00000374316.5	+	5	1347	c.287C>T	c.(286-288)gCg>gTg	p.A96V	ITPR3_ENST00000605930.1_Missense_Mutation_p.A96V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	96					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGCAGCATGCGGCGCAGATG	0.562000													5	9					0	0	0.000602	0	0
PRDM16	63976	broad.mit.edu	37	1	3350266	3350266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3350266C>T	ENST00000378398.3	+	18	3804	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	PRDM16_ENST00000514189.1_3'UTR|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_3'UTR|PRDM16_ENST00000442529.2_Intron|PRDM16_ENST00000441472.2_Missense_Mutation_p.S1240F|PRDM16_ENST00000270722.5_Missense_Mutation_p.S1241F|PRDM16_ENST00000378391.2_Intron			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1241	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGTCCCTTTCCGAAGACACT	0.617000			T	EVI1	"""MDS, AML"""								42	52					0	0	0.003610	0	0
MPP3	4356	broad.mit.edu	37	17	41891596	41891596	+	Silent	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:41891596G>T	ENST00000398393.1	-	13	1478	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	MPP3_ENST00000398389.4_Silent_p.P381P|MPP3_ENST00000475450.1_5'UTR			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	381	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCGCTCTCCGGGCTGGTGTT	0.622000													40	97					5.78141e-17	9.10773e-17	0.003214	1	0
ACP1	52	broad.mit.edu	37	2	272128	272128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:272128C>T	ENST00000272065.5	+	3	302	c.209C>T	c.(208-210)cCc>cTc	p.P70L	ACP1_ENST00000272067.6_Intron|ACP1_ENST00000439645.2_Intron|ACP1_ENST00000405233.1_Intron|ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000407983.3_Missense_Mutation_p.P70L	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	70						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CACGGCATTCCCATGAGCCAC	0.577000													10	32					0	0	0.000978	0	0
CPT1C	126129	broad.mit.edu	37	19	50209330	50209330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50209330G>A	ENST00000392518.4	+	11	1501	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	CPT1C_ENST00000598293.1_Missense_Mutation_p.E377K|CPT1C_ENST00000405931.2_Missense_Mutation_p.E366K|CPT1C_ENST00000354199.5_Missense_Mutation_p.E377K|CPT1C_ENST00000323446.5_Missense_Mutation_p.E377K	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	377				HEEH -> RTRG (in Ref. 6; CAD38561).	fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCCCCACGAGGAACATCTGGC	0.632000													6	22					0	0	0.003080	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688398	26688398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:26688398C>T	ENST00000529632.2	+	2	317	c.121C>T	c.(121-123)Cct>Tct	p.P41S	SEZ6L_ENST00000343706.4_Missense_Mutation_p.P41S|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P41S|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P41S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P41S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	41						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGATGCTAGCCCTTTGGGTCC	0.567000													4	11					0	0	0.000248	0	0
CTXN3	613212	broad.mit.edu	37	5	126993383	126993383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:126993383G>A	ENST00000379445.3	+	3	721	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	CTXN3_ENST00000395322.3_Missense_Mutation_p.R57Q|CTC-548H10.2_ENST00000512352.1_RNA	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	57						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		GATCCATATCGAAGCATGCCA	0.488000													27	58					0	0	0.007291	0	0
REST	5978	broad.mit.edu	37	4	57777066	57777066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:57777066G>A	ENST00000309042.7	+	2	576	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	88	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGATAGTGAAGAAGGAGA	0.458000													15	31					0	0	0.004007	0	0
OFD1	8481	broad.mit.edu	37	X	13764499	13764499	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13764499C>T	ENST00000380567.1	+	8	1031	c.159C>T	c.(157-159)ttC>ttT	p.F53F	OFD1_ENST00000340096.6_Silent_p.F193F|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Silent_p.F193F|OFD1_ENST00000380550.3_Silent_p.F193F			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	193					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTATCAAGTTCGAATCTTTAG	0.338000													38	12					0	0	0.004289	0	0
MYPN	84665	broad.mit.edu	37	10	69934044	69934044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:69934044C>T	ENST00000358913.5	+	11	2683	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I	MYPN_ENST00000540630.1_Missense_Mutation_p.T732I|MYPN_ENST00000354393.2_Missense_Mutation_p.T457I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	732						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						TCCACGAACACCACCGCAGCA	0.552000													38	70					0	0	0.006999	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734175	16734175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrY:16734175G>A	ENST00000297967.5	+	1	275	c.176G>A	c.(175-177)aGa>aAa	p.R59K	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	59					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAGGGCCTAAGAACACCATTA	0.502000													5	17					0	0	0.001168	0	0
COL1A1	1277	broad.mit.edu	37	17	48267439	48267439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:48267439C>T	ENST00000225964.5	-	36	2600	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	828	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.E828K(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGGTTCGCCTTTAGCA	0.657000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						18	51					0	0	0.007413	0	0
UTP15	84135	broad.mit.edu	37	5	72873745	72873745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:72873745C>T	ENST00000296792.4	+	9	1214	c.959C>T	c.(958-960)tCt>tTt	p.S320F	UTP15_ENST00000543251.1_Missense_Mutation_p.S130F|UTP15_ENST00000508491.1_Missense_Mutation_p.S301F	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	320					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CATCGGAAATCTGAAGCAAAG	0.343000													28	56					0	0	0.007291	0	0
ACE	1636	broad.mit.edu	37	17	61568382	61568382	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:61568382G>A	ENST00000577647.1	+	7	1032	c.987G>A	c.(985-987)tcG>tcA	p.S329S	ACE_ENST00000421982.2_Silent_p.S149S|ACE_ENST00000413513.3_Silent_p.S329S|ACE_ENST00000490216.2_Silent_p.S329S|ACE_ENST00000290863.6_Silent_p.S329S|ACE_ENST00000290866.4_Silent_p.S903S|ACE_ENST00000428043.1_Silent_p.S903S			P12821	ACE_HUMAN	angiotensin I converting enzyme	903	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGCCCCCTCGATGGACACCA	0.642000													20	46					0	0	0.003954	0	0
XIRP2	129446	broad.mit.edu	37	2	168115691	168115691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168115691G>A	ENST00000409728.1	+	11	2823	c.2734G>A	c.(2734-2736)Gat>Aat	p.D912N	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.D879N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.D879N|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.D657N|XIRP2_ENST00000420519.1_Missense_Mutation_p.D912N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGGAAAGGATGTTAAACC	0.343000													15	55					0	0	0.004990	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139837	12139837	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:12139837C>T	ENST00000263035.4	+	8	1575	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	505					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGCCCTGAACCTGCAGGCCCA	0.552000													129	320					0	0	0.003610	0	0
ZNF234	10780	broad.mit.edu	37	19	44662093	44662093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44662093C>T	ENST00000426739.2	+	6	2182	c.1924C>T	c.(1924-1926)Cat>Tat	p.H642Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.H642Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ATTACAGTATCATAGGCGAGT	0.413000													28	53					0	0	0.005443	0	0
SYT3	84258	broad.mit.edu	37	19	51135610	51135610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51135610G>A	ENST00000338916.4	-	2	1240	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	SYT3_ENST00000593901.1_Missense_Mutation_p.P203S|SYT3_ENST00000544769.1_Missense_Mutation_p.P203S|SYT3_ENST00000600079.1_Missense_Mutation_p.P203S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	203						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCACCACTGGGGGGCAGCAGG	0.652000													7	35					0	0	0.001984	0	0
GABRA3	2556	broad.mit.edu	37	X	151336712	151336712	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151336712G>A	ENST00000370314.4	-	10	1705	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	GABRA3_ENST00000535043.1_Silent_p.I489I|GABRA3_ENST00000370311.1_Silent_p.I489I|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	489					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGTTTGCGGATCATGCCCT	0.517000													10	12					0	0	0.000978	0	0
KRT1	3848	broad.mit.edu	37	12	53072441	53072441	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53072441A>T	ENST00000252244.3	-	2	749	c.691T>A	c.(691-693)Ttt>Att	p.F231I		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	231	Linker 1.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AATGACTCAAAGTAGGGCTCT	0.483000													39	84					0	0	0.007835	0	0
NXPE4	54827	broad.mit.edu	37	11	114453517	114453517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:114453517C>T	ENST00000375478.3	-	3	503	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		GTACGTATCTCGAGGGTTGAG	0.572000													23	55					0	0	0.003330	0	0
RGPD3	653489	broad.mit.edu	37	2	107042457	107042457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:107042457G>A	ENST00000409886.3	-	19	2780	c.2693C>T	c.(2692-2694)cCc>cTc	p.P898L	RGPD3_ENST00000304514.7_Missense_Mutation_p.P898L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	898					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACCTTTGTGGGAGTAACATT	0.313000													16	98					0	0	0.001882	0	0
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:3331170G>A	ENST00000378398.3	+	11	2732	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	PRDM16_ENST00000514189.1_Missense_Mutation_p.E884K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.E885K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E883K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E883K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E884K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E884K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	884	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667000			T	EVI1	"""MDS, AML"""								5	16					0	0	0.001168	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217006	40217006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40217006G>A	ENST00000325157.6	-	5	1074	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	275										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACCTGCACCCGAAAGATTACA	0.383000													21	20					0	0	0.003954	0	0
MYO3A	53904	broad.mit.edu	37	10	26465724	26465724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:26465724C>T	ENST00000265944.5	+	31	4554	c.4388C>T	c.(4387-4389)tCg>tTg	p.S1463L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1463					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGGGTGTCTCGCACCATAAG	0.363000													21	38					0	0	0.003954	0	0
CDK14	5218	broad.mit.edu	37	7	90675251	90675251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:90675251C>T	ENST00000406263.1	+	10	1385	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	CDK14_ENST00000380050.3_Missense_Mutation_p.H361Y|CDK14_ENST00000265741.3_Missense_Mutation_p.H343Y|CDK14_ENST00000436577.2_Missense_Mutation_p.H232Y			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	361	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.H343Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCTGGAGTTCATTCTTTACC	0.393000													9	37					0	0	0.000673	0	0
KMT2C	58508	broad.mit.edu	37	7	151851144	151851144	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:151851144C>G	ENST00000355193.2	-	49	12616	c.12398G>C	c.(12397-12399)aGa>aCa	p.R4133T	KMT2C_ENST00000262189.6_Missense_Mutation_p.R4076T|KMT2C_ENST00000485241.1_5'UTR					lysine (K)-specific methyltransferase 2C																		AAGACCTGATCTGGGACCATT	0.383000													17	36					0	0	0.004990	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512384	68512384	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:68512384C>T	ENST00000370981.1	-	4	1233	c.597G>A	c.(595-597)aaG>aaA	p.K199K	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.K199K|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	199					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGGCTTTTTCTTGTAATTCA	0.532000													29	82					0	0	0.006320	0	0
ZNF324	25799	broad.mit.edu	37	19	58982241	58982241	+	Missense_Mutation	SNP	G	G	A	rs147519125	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58982241G>A	ENST00000536459.2	+	4	1091	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ZNF324_ENST00000196482.3_Missense_Mutation_p.A128T			O75467	Z324A_HUMAN	zinc finger protein 324	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACAACGGGGTGCCTCCCCATC	0.617000													22	50					0	0	0.002780	0	0
FCRL3	115352	broad.mit.edu	37	1	157650795	157650795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:157650795C>T	ENST00000368184.3	-	12	2224	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	FCRL3_ENST00000368186.5_Missense_Mutation_p.E645K|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	645						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTCCAGCTCCATTGGGGCT	0.582000													22	25					0	0	0.002780	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141201	143141201	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:143141201C>A	ENST00000332690.1	+	1	656	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	219					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)					CTCATCACATCTCTGGGAAGA	0.463000													29	65					5.77227e-19	9.09657e-19	0.001512	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926795	45926795	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:45926795C>T	ENST00000395629.2	+	11	2358	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	MAPK8IP1_ENST00000241014.2_Silent_p.S686S			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	686	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGGCAGAGTCCGTGGGGTACG	0.637000													5	23					0	0	0.001168	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899951	45899951	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45899951G>A	ENST00000418234.2	-	4	642	c.564C>T	c.(562-564)ccC>ccT	p.P188P	PPP1R13L_ENST00000360957.5_Silent_p.P188P	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	188	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCCGCCAGGGGGCTGCCGC	0.796000													5	11					0	0	0.000602	0	0
DNMT1	1786	broad.mit.edu	37	19	10247806	10247806	+	Missense_Mutation	SNP	G	G	A	rs147984942	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10247806G>A	ENST00000340748.4	-	36	4631	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C	DNMT1_ENST00000359526.4_Missense_Mutation_p.R1482C|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1466C			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1466	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGCTGCTGCGGCCGTTCTTC	0.647000													7	21					0	0	0.003080	0	0
SH2D3A	10045	broad.mit.edu	37	19	6763721	6763721	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:6763721T>C	ENST00000437152.3	-	2	155	c.23A>G	c.(22-24)aAc>aGc	p.N8S	SH2D3A_ENST00000245908.6_Silent_p.Q13Q			Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	0					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGTACCAAGGTTGGCCAGCAA	0.612000													18	37					0	0	0.001523	0	0
RGS12	6002	broad.mit.edu	37	4	3418713	3418713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3418713C>T	ENST00000336727.3	+	8	3405	c.2501C>T	c.(2500-2502)gCg>gTg	p.A834V	RGS12_ENST00000306648.7_Missense_Mutation_p.A232V|RGS12_ENST00000344733.5_Missense_Mutation_p.A834V|RGS12_ENST00000382788.3_Missense_Mutation_p.A834V|RGS12_ENST00000338806.4_Missense_Mutation_p.A186V|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.A176V	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	834						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATCCTGGCGGAAGTGGAG	0.582000													12	59					0	0	0.001368	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833157	34833157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:34833157C>T	ENST00000299505.6	+	10	3191	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	773										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAGGTCTGTCTCCTCTTGGT	0.577000													29	96					0	0	0.001512	0	0
CDH20	28316	broad.mit.edu	37	18	59158012	59158012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:59158012G>A	ENST00000262717.4	+	2	624	c.226G>A	c.(226-228)Gac>Aac	p.D76N	CDH20_ENST00000536675.2_Missense_Mutation_p.D76N|CDH20_ENST00000538374.1_Missense_Mutation_p.D76N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	76	Cadherin 1.				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)				CACTGGGACCGACCCTTTGTA	0.453000													30	62					0	0	0.001512	0	0
HOXB13	10481	broad.mit.edu	37	17	46805802	46805802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:46805802C>T	ENST00000290295.7	-	1	738	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	52					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CCTGGCAGATCCAAGGGGGCA	0.677000													22	53					0	0	0.002299	0	0
GBAS	2631	broad.mit.edu	37	7	56051492	56051492	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:56051492C>T	ENST00000322090.3	+	6	545	c.516C>T	c.(514-516)ttC>ttT	p.F172F	GBAS_ENST00000446778.1_Silent_p.F133F	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	172						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTTGGAGTTCAGTTTCTGGA	0.388000													44	57					0	0	0.002522	0	0
PRKACG	5568	broad.mit.edu	37	9	71628484	71628484	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:71628484G>A	ENST00000377276.2	-	1	555	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	175	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTGCTGGTCGATGAGGAGAT	0.642000													9	10					0	0	0.004482	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789169	15789169	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15789169C>T	ENST00000550308.1	+	3	677	c.297C>T	c.(295-297)atC>atT	p.I99I	CYP4F12_ENST00000324632.9_Silent_p.I99I	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.I99I(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TCCCCTTCATCGTTTTATGCC	0.547000													28	72					0	0	0.001512	0	0
ACACA	31	broad.mit.edu	37	17	35557126	35557126	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:35557126C>T	ENST00000353139.5	-	35	4595	c.4113_splice	c.e35-1	p.D1372_splice	ACACA_ENST00000335166.5_Splice_Site_p.D1257_splice|ACACA_ENST00000394406.2_Splice_Site_p.D1335_splice|ACACA_ENST00000360679.3_Splice_Site_p.D1277_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1335					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCTGAAATCCTTTCAAATA	0.318000													26	49					0	0	0.005443	0	0
ZNF391	346157	broad.mit.edu	37	6	27369111	27369111	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:27369111T>A	ENST00000244576.4	+	3	1507	c.962T>A	c.(961-963)aTt>aAt	p.I321N		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TCATCCCTTATTATTCATCAG	0.463000													15	38					0	0	0.004990	0	0
TET3	200424	broad.mit.edu	37	2	74274350	74274350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:74274350G>A	ENST00000409262.3	+	1	901	c.901G>A	c.(901-903)Gcc>Acc	p.A301T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	301							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						GTTCCCTGAAGCCTGGGGCAC	0.612000													18	31					0	0	0.006122	0	0
PI3	5266	broad.mit.edu	37	20	43804687	43804687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:43804687C>T	ENST00000243924.3	+	2	312	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	89	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTTGAATCCCCCTAACCGCTG	0.527000													31	50					0	0	0.002096	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35972520	35972520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:35972520C>T	ENST00000325722.3	-	3	593	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	120	MANSC.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAGTGTGTCCTAAAAGCCCG	0.512000													23	56					0	0	0.003954	0	0
OR4C6	219432	broad.mit.edu	37	11	55432857	55432857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55432857C>T	ENST00000314259.3	+	1	244	c.215C>T	c.(214-216)tCa>tTa	p.S72L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTCATGTTCTCATCTGTCGTT	0.433000													24	71					0	0	0.002780	0	0
EPHA7	2045	broad.mit.edu	37	6	93974331	93974331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:93974331C>T	ENST00000369303.4	-	8	1907	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	575						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)		ATGATGAAGCCAAAGACCATG	0.368000													14	39					0	0	0.004007	0	0
COBL	23242	broad.mit.edu	37	7	51096438	51096438	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:51096438C>T	ENST00000395542.2	-	12	2785	c.2601G>A	c.(2599-2601)gaG>gaA	p.E867E	COBL_ENST00000265136.7_Silent_p.E785E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	785										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGGCAGAGCTCTCTGAGGGTC	0.587000													7	26					0	0	0.001984	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337192	13337192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:13337192C>T	ENST00000380622.2	-	1	1326	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	288					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGATGCTTTTCAAAATAGTCT	0.448000													72	37					0	0	0.003610	0	0
CREG1	8804	broad.mit.edu	37	1	167515373	167515373	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:167515373G>A	ENST00000370509.4	-	3	649	c.624C>T	c.(622-624)atC>atT	p.I208I	CREG1_ENST00000466652.1_5'UTR	NM_003851.2	NP_003842.1	O75629	CREG1_HUMAN	cellular repressor of E1A-stimulated genes 1	208					cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter	extracellular region	FMN binding|transcription corepressor activity										CTGGTGTCACGATTTTTGGTC	0.428000													11	19					0	0	0.000978	0	0
SLA	6503	broad.mit.edu	37	8	134072418	134072418	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:134072418C>T	ENST00000395352.3	-	2	387	c.39G>A	c.(37-39)ggG>ggA	p.G13G	SLA_ENST00000427060.2_Silent_p.G36G|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000517648.1_Silent_p.G13G|SLA_ENST00000338087.5_5'UTR|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Intron	NM_001045557.2	NP_001039022.2	Q13239	SLAP1_HUMAN	Src-like-adaptor	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CTTTCTTTTTCCCTGGGGCCG	0.582000													30	54					0	0	0.001512	0	0
UGT2A1	10941	broad.mit.edu	37	4	70464963	70464963	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70464963C>T	ENST00000503640.1	-	2	920		c.e2+1		UGT2A1_ENST00000286604.4_Splice_Site|UGT2A2_ENST00000457664.2_Splice_Site|UGT2A1_ENST00000514019.1_Splice_Site|UGT2A1_ENST00000502343.1_Splice_Site|UGT2A1_ENST00000512704.1_Splice_Site	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TGTAGACCTACCTTAGGTAAA	0.343000													6	22					0	0	0.001984	0	0
GFM1	85476	broad.mit.edu	37	3	158376776	158376776	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:158376776C>T	ENST00000486715.1	+	9	1506	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	GFM1_ENST00000264263.5_Silent_p.T402T|GFM1_ENST00000478576.1_Silent_p.T383T	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	383					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGGTGACACCATCTATAACA	0.448000													22	47					0	0	0.002299	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528455	65528455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:65528455C>T	ENST00000310193.3	-	3	816	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	215					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTAAAAAATCATCTCTTAGC	0.284000													16	39					0	0	0.003163	0	0
FSIP1	161835	broad.mit.edu	37	15	40005724	40005724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:40005724C>T	ENST00000350221.3	-	10	1318	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	370										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTTGGTGTTCCTAAGTATCTT	0.353000													55	110					0	0	0.003610	0	0
PDE10A	10846	broad.mit.edu	37	6	165832214	165832214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:165832214C>T	ENST00000366882.1	-	12	1031	c.877G>A	c.(877-879)Gac>Aac	p.D293N	PDE10A_ENST00000539869.2_Missense_Mutation_p.D303N|PDE10A_ENST00000354448.4_Missense_Mutation_p.D293N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	293	GAF 2.				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)	TTCTTATGGTCCACCTGGAAA	0.378000													11	25					0	0	0.001855	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030800	10030800	+	Missense_Mutation	SNP	C	C	T	rs145395317		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:10030800C>T	ENST00000378380.3	+	6	1912	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.P528L	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TACAAAACTCCGCTAATGACG	0.423000													20	32					0	0	0.002780	0	0
NR3C2	4306	broad.mit.edu	37	4	149356726	149356726	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:149356726T>C	ENST00000355292.3	-	2	1649	c.1287A>G	c.(1285-1287)caA>caG	p.Q429Q	NR3C2_ENST00000511528.1_Silent_p.Q429Q|NR3C2_ENST00000344721.4_Silent_p.Q429Q|NR3C2_ENST00000358102.3_Silent_p.Q429Q|NR3C2_ENST00000512865.1_Silent_p.Q429Q|NR3C2_ENST00000342437.4_Silent_p.Q429Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	429	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTTGATTCTTGCTTTATTG	0.383000													35	44					0	0	0.003755	0	0
HMSD	284293	broad.mit.edu	37	18	61620733	61620733	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:61620733A>G	ENST00000408945.3	+	2	246	c.44A>G	c.(43-45)aAg>aGg	p.K15R	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	15						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATGGGGGCAAAGGGAAACACT	0.403000													13	21					0	0	0.003163	0	0
POF1B	79983	broad.mit.edu	37	X	84560879	84560879	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:84560879T>C	ENST00000262753.4	-	13	1500	c.1355A>G	c.(1354-1356)aAa>aGa	p.K452R	POF1B_ENST00000373145.3_Missense_Mutation_p.K452R	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	452							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTCATCCATTTTAGCCTGCAA	0.388000													24	22					0	0	0.003330	0	0
DPP10	57628	broad.mit.edu	37	2	116572408	116572408	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116572408C>T	ENST00000410059.1	+	20	2220	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	DPP10_ENST00000393147.2_Silent_p.F584F|DPP10_ENST00000310323.8_Silent_p.F573F|DPP10_ENST00000409163.1_Silent_p.F530F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	580					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGATAAGTTCCATATTGACT	0.413000													11	50					0	0	0.000978	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:44555292C>T	ENST00000330682.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000													24	699					0	0	0.004656	0	0
TRPM3	80036	broad.mit.edu	37	9	73167918	73167918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:73167918C>T	ENST00000377110.2	-	23	3623	c.3380G>A	c.(3379-3381)tGg>tAg	p.W1127*	TRPM3_ENST00000377105.1_Nonsense_Mutation_p.W986*|TRPM3_ENST00000408909.2_Nonsense_Mutation_p.W986*|TRPM3_ENST00000358082.3_Nonsense_Mutation_p.W989*|TRPM3_ENST00000377111.2_Nonsense_Mutation_p.W1127*|TRPM3_ENST00000360823.2_Nonsense_Mutation_p.W989*|TRPM3_ENST00000396285.1_Nonsense_Mutation_p.W986*|TRPM3_ENST00000396280.5_Nonsense_Mutation_p.W976*|TRPM3_ENST00000377106.1_Nonsense_Mutation_p.W999*|TRPM3_ENST00000357533.2_Nonsense_Mutation_p.W1131*|TRPM3_ENST00000423814.3_Nonsense_Mutation_p.W1154*|TRPM3_ENST00000396292.4_Nonsense_Mutation_p.W999*	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1152						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTGAAACTTCCAGACTTGGTT	0.413000													47	91					0	0	0.003610	0	0
TMCO3	55002	broad.mit.edu	37	13	114150193	114150193	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:114150193C>T	ENST00000434316.2	+	2	656	c.297C>T	c.(295-297)ttC>ttT	p.F99F	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Silent_p.F99F	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	99						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTGAAATTTTCCAGAAAGAGC	0.458000													14	23					0	0	0.001855	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906436	164906436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:164906436G>A	ENST00000475390.1	-	2	2626	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S728F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTGGAGAGGAAAGAGTTGG	0.572000										HNSCC(40;0.11)			8	26					0	0	0.003080	0	0
ATE1	11101	broad.mit.edu	37	10	123600677	123600677	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:123600677G>A	ENST00000369043.3	-	9	1163	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	ATE1_ENST00000481784.1_5'UTR|ATE1_ENST00000540606.1_Silent_p.L352L|ATE1_ENST00000543447.1_Silent_p.L244L|ATE1_ENST00000369040.3_Silent_p.L263L|ATE1_ENST00000224652.6_Silent_p.L359L|ATE1_ENST00000535655.1_Silent_p.L60L	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	359					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CACAGTTTGGGAGGATGTCAA	0.473000													12	13					0	0	0.001368	0	0
ABR	29	broad.mit.edu	37	17	975864	975864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:975864G>A	ENST00000544583.2	-	8	1345	c.746C>T	c.(745-747)cCc>cTc	p.P249L	ABR_ENST00000574437.1_Missense_Mutation_p.P249L|ABR_ENST00000536794.2_Missense_Mutation_p.P77L|ABR_ENST00000302538.5_Missense_Mutation_p.P295L|ABR_ENST00000291107.2_Missense_Mutation_p.P258L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	295	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTCCCCCTTGGGCGTTGTCAC	0.657000													6	6					0	0	0.001984	0	0
DDX60	55601	broad.mit.edu	37	4	169167646	169167646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:169167646G>A	ENST00000393743.3	-	30	4378	c.4087C>T	c.(4087-4089)Cct>Tct	p.P1363S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1363	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATGCTGAGAGGGAAGTGTCCT	0.488000													16	30					0	0	0.004007	0	0
ABHD1	84696	broad.mit.edu	37	2	27351330	27351330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27351330C>T	ENST00000316470.4	+	2	250	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	46						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGCTGGGCCGCAGTTTCT	0.572000													16	47					0	0	0.003163	0	0
ZNF106	64397	broad.mit.edu	37	15	42743513	42743513	+	Silent	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:42743513A>C	ENST00000263805.4	-	2	1214	c.888T>G	c.(886-888)ggT>ggG	p.G296G	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		CTTCAGAAGGACCTCTATATG	0.393000													6	62					0	0	0.003080	0	0
OR1G1	8390	broad.mit.edu	37	17	3030088	3030088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3030088C>T	ENST00000328890.2	-	1	787	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AAAAGAAGTCCCAAAGAAGAG	0.488000													12	14					0	0	0.000978	0	0
MS4A10	341116	broad.mit.edu	37	11	60558512	60558512	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:60558512G>A	ENST00000308287.1	+	3	345	c.249G>A	c.(247-249)aaG>aaA	p.K83K		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	83						integral to membrane	receptor activity	p.K83K(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CTATAGTCAAGAACCTTCACC	0.582000													26	89					0	0	0.001512	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111635351	111635351	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:111635351G>A	ENST00000369680.4	-	15	1445	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	XPNPEP1_ENST00000502935.1_Silent_p.V442V|XPNPEP1_ENST00000369683.1_Silent_p.V328V|XPNPEP1_ENST00000322238.8_Intron	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	399					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCGTCTCAGGGACTGGCCTAA	0.408000													11	20					0	0	0.001368	0	0
TRIM67	440730	broad.mit.edu	37	1	231339636	231339636	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:231339636C>T	ENST00000444294.3	+	6	2410	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	TRIM67_ENST00000449018.3_Silent_p.L458L|TRIM67_ENST00000366652.2_Silent_p.L520L|TRIM67_ENST00000366653.5_Silent_p.L520L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	520	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCTACTGCAGCTGGAGAAATG	0.667000													7	18					0	0	0.003080	0	0
TCEANC2	127428	broad.mit.edu	37	1	54534469	54534469	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:54534469T>G	ENST00000234827.1	+	3	343	c.143T>G	c.(142-144)aTg>aGg	p.M48R	TCEANC2_ENST00000371331.1_Missense_Mutation_p.M78R|TCEANC2_ENST00000498272.1_Intron	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	48	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|lung(3)|pancreas(1)	5						TGGAAAACTATGCTGGAGCTT	0.353000													12	23					0	0	0.001368	0	0
AP1M2	10053	broad.mit.edu	37	19	10692025	10692025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:10692025G>A	ENST00000590923.1	-	6	673	c.590C>T	c.(589-591)aCc>aTc	p.T197I	AP1M2_ENST00000250244.6_Missense_Mutation_p.T197I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	197	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GAGCTTGATGGTACCGACGAT	0.567000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.004007	0	0
KIAA2026	158358	broad.mit.edu	37	9	5968635	5968635	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5968635G>A	ENST00000399933.3	-	3	1595	c.1596C>T	c.(1594-1596)ccC>ccT	p.P532P	KIAA2026_ENST00000381461.2_Silent_p.P532P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	532										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGGAAGAGGGCAGGCTAT	0.368000													68	94					0	0	0.003610	0	0
CSRNP1	64651	broad.mit.edu	37	3	39186737	39186737	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:39186737G>A	ENST00000273153.5	-	3	393	c.216C>T	c.(214-216)atC>atT	p.I72I	CSRNP1_ENST00000514182.1_Silent_p.I72I	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	72					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCCGCTTCAGGATAGACAGGG	0.592000													29	13					0	0	0.002445	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700975	94700975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94700975C>T	ENST00000304338.3	+	7	854	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	234						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGTATGTGTCGGCAATTAGA	0.383000													19	44					0	0	0.001882	0	0
ZNF474	133923	broad.mit.edu	37	5	121488490	121488490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121488490C>T	ENST00000296600.4	+	2	1188	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	269						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCCTCAGCCCCTTCCGAATGC	0.542000													12	26					0	0	0.001855	0	0
ATP5F1	515	broad.mit.edu	37	1	111996918	111996918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:111996918C>T	ENST00000369722.3	+	3	769	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	55					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding	p.R55C(1)		breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGAAAAGTTCGTTATGGACT	0.438000													34	91					0	0	0.002445	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121795	117121795	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:117121795G>A	ENST00000310357.3	-	4	1521	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Silent_p.V325V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	500					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GGATGATGAAGACATCATTCT	0.408000													18	75					0	0	0.001882	0	0
ARNTL	406	broad.mit.edu	37	11	13399897	13399897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:13399897G>A	ENST00000389708.3	+	17	1878	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	ARNTL_ENST00000403290.1_Silent_p.R476R|ARNTL_ENST00000361003.4_Silent_p.R358R|ARNTL_ENST00000403482.3_Silent_p.R474R|ARNTL_ENST00000403510.3_Silent_p.R432R|ARNTL_ENST00000401424.1_Silent_p.R433R|ARNTL_ENST00000389707.4_Silent_p.R475R|ARNTL_ENST00000396441.3_Silent_p.R475R			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GCCCAAAGAGGACCCACCCCA	0.473000													7	14					0	0	0.001984	0	0
RASD1	51655	broad.mit.edu	37	17	17398471	17398471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:17398471C>T	ENST00000225688.3	-	2	1025	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	272					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						TTGTCCTTGGCCTGGCTGCCG	0.652000													7	25					0	0	0.003080	0	0
CDSN	1041	broad.mit.edu	37	6	31084658	31084658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:31084658G>A	ENST00000376288.2	-	2	760	c.734C>T	c.(733-735)tCt>tTt	p.S245F	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	245	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCTGACACAGAGTGGGAGCT	0.642000													9	32					0	0	0.004482	0	0
TBX22	50945	broad.mit.edu	37	X	79286391	79286391	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:79286391G>C	ENST00000442340.1	+	9	1474	c.984G>C	c.(982-984)caG>caC	p.Q328H	TBX22_ENST00000373294.5_Missense_Mutation_p.Q448H|TBX22_ENST00000373296.3_Missense_Mutation_p.Q448H|TBX22_ENST00000373291.1_Missense_Mutation_p.Q328H	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	448					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGGATTACAGTCACCTGGAA	0.403000													29	26					0	0	0.002096	0	0
SLC12A7	10723	broad.mit.edu	37	5	1076865	1076865	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1076865G>A	ENST00000264930.5	-	13	1735	c.1692C>T	c.(1690-1692)atC>atT	p.I564I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	564					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGTCTCGCAGATGAGGACTG	0.652000													10	20					0	0	0.001368	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139745	40139745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:40139745G>A	ENST00000325157.6	-	7	2013	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	588										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GCTTATTTGTGAACTATTCAG	0.413000													29	61					0	0	0.006320	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762860	92762860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:92762860C>T	ENST00000318238.4	-	5	3641	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E809K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E809K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	809										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGACATTTTCTTGTTCTTCA	0.373000													18	59					0	0	0.004990	0	0
C1orf87	127795	broad.mit.edu	37	1	60538248	60538248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:60538248C>T	ENST00000371201.3	-	2	175	c.68G>A	c.(67-69)gGa>gAa	p.G23E	C1orf87_ENST00000450089.2_Missense_Mutation_p.G23E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	23							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGTTTACTTCCAATGATTTT	0.393000													27	56					0	0	0.002445	0	0
DIAPH3	81624	broad.mit.edu	37	13	60566234	60566234	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:60566234G>A	ENST00000400324.4	-	11	1432	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	DIAPH3_ENST00000377908.2_Silent_p.S393S|DIAPH3_ENST00000267215.4_Silent_p.S404S|DIAPH3_ENST00000400319.1_Silent_p.S334S|DIAPH3_ENST00000400330.1_Silent_p.S404S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.S358S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	404	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAAGGCGATGGGATAACTCAA	0.313000													23	58					0	0	0.002780	0	0
PACS1	55690	broad.mit.edu	37	11	66006630	66006630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66006630C>T	ENST00000320580.4	+	21	2344	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	PACS1_ENST00000529757.1_Missense_Mutation_p.P307S	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	771				P -> S (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGACGATTCTCCTGTGGTCAG	0.622000													15	30					0	0	0.001216	0	0
HYKK	123688	broad.mit.edu	37	15	78807360	78807360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78807360C>T	ENST00000566332.1	+	3	448	c.388C>T	c.(388-390)Cca>Tca	p.P130S	HYKK_ENST00000388988.4_Missense_Mutation_p.P130S|HYKK_ENST00000360519.3_Missense_Mutation_p.P130S|HYKK_ENST00000563233.1_Missense_Mutation_p.P130S|HYKK_ENST00000569878.1_Missense_Mutation_p.P130S|HYKK_ENST00000408962.2_Missense_Mutation_p.P130S					hydroxylysine kinase																		GACTTACCTCCCAGGAAGACC	0.403000													13	27					0	0	0.002450	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860975	118860975	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:118860975T>C	ENST00000504811.1	+	19	1827	c.1643T>C	c.(1642-1644)cTa>cCa	p.L548P	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.L523P|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L505P|HSD17B4_ENST00000513628.1_Missense_Mutation_p.L386P|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L383P|HSD17B4_ENST00000510025.1_Missense_Mutation_p.L499P|HSD17B4_ENST00000509514.1_Missense_Mutation_p.L261P	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	523	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTTGCTAGTCTAGCAGGTGAG	0.358000													14	37					0	0	0.004007	0	0
PLCB1	23236	broad.mit.edu	37	20	8628581	8628581	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8628581G>C	ENST00000378641.3	+	6	974	c.499G>C	c.(499-501)Ggg>Cgg	p.G167R	PLCB1_ENST00000338037.6_Missense_Mutation_p.G167R|PLCB1_ENST00000378637.2_Missense_Mutation_p.G167R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	167					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						CACTCCAGAAGGGCGTATTCC	0.338000													58	72					0	0	0.003610	0	0
ERBB4	2066	broad.mit.edu	37	2	212495282	212495282	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:212495282A>C	ENST00000342788.4	-	17	2294	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	ERBB4_ENST00000436443.1_Missense_Mutation_p.F662V|ERBB4_ENST00000402597.1_Missense_Mutation_p.F652V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	662					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F662L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCAGAATGAAGAGCCCACCA	0.403000										TSP Lung(8;0.080)			21	65					0	0	0.002780	0	0
LRP1B	53353	broad.mit.edu	37	2	141032134	141032134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:141032134G>A	ENST00000389484.3	-	85	13972	c.13001C>T	c.(13000-13002)tCa>tTa	p.S4334L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4334	EGF-like 13.				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)		AATGGTACATGATTCAGAATT	0.403000										TSP Lung(27;0.18)			12	24					0	0	0.003163	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126203	121126203	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:121126203A>T	ENST00000273666.6	+	24	3044	c.2773A>T	c.(2773-2775)Aat>Tat	p.N925Y	STXBP5L_ENST00000471454.1_Missense_Mutation_p.N901Y|STXBP5L_ENST00000497029.1_Missense_Mutation_p.N899Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.N901Y|STXBP5L_ENST00000492541.1_Missense_Mutation_p.N925Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	925					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CATAGATGAAAATGAAAAATC	0.393000													20	42					0	0	0.001216	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777085	25777085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:25777085G>A	ENST00000377905.4	+	10	1285	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	SLC17A4_ENST00000439485.2_Missense_Mutation_p.R159K|SLC17A4_ENST00000397076.2_Missense_Mutation_p.R187K	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	389					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCTGGGTCAGATCCAGCCAC	0.537000													24	59					0	0	0.004656	0	0
P2RY2	5029	broad.mit.edu	37	11	72945204	72945204	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:72945204G>A	ENST00000311131.2	+	0	467				P2RY2_ENST00000393597.2_De_novo_Start_InFrame|P2RY2_ENST00000393596.2_De_novo_Start_InFrame	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGCAGGGCGATGGCAGCAG	0.632000													14	27					0	0	0.003163	0	0
PLSCR3	57048	broad.mit.edu	37	17	7293969	7293969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7293969C>T	ENST00000535512.1	-	10	1832	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PLSCR3_ENST00000574401.1_Missense_Mutation_p.G272E|PLSCR3_ENST00000576362.1_Missense_Mutation_p.G248E|PLSCR3_ENST00000576201.1_Missense_Mutation_p.G272E|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Missense_Mutation_p.G272E			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	272					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GAATGTGGCTCCCAGCAGCAC	0.582000													27	54					0	0	0.001786	0	0
AKAP13	11214	broad.mit.edu	37	15	86278326	86278326	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:86278326C>T	ENST00000394518.2	+	31	7481	c.7386C>T	c.(7384-7386)ccC>ccT	p.P2462P	AKAP13_ENST00000361243.2_Silent_p.P2466P|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.P707P	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2462	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.P2466P(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTTCCCTGCCCCGGAGAGCAG	0.502000													48	100					0	0	0.003610	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320902	128320902	+	Silent	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:128320902T>G	ENST00000262462.4	+	2	1568	c.558T>G	c.(556-558)gtT>gtG	p.V186V	SLC27A6_ENST00000395266.1_Silent_p.V186V|SLC27A6_ENST00000506176.1_Silent_p.V186V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	186					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGATTCTGTTCCACAAGGTG	0.458000													13	33					0	0	0.001855	0	0
CNOT1	23019	broad.mit.edu	37	16	58576358	58576358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:58576358G>A	ENST00000317147.5	-	32	4881	c.4549C>T	c.(4549-4551)Cct>Tct	p.P1517S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P1512S|CNOT1_ENST00000245138.4_Missense_Mutation_p.P368S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1517					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATCTCAGGGCCTGCTTTT	0.383000													67	194					0	0	0.003610	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197225	39197225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39197225G>A	ENST00000306271.4	-	1	488	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	142						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CTGGCAGCAGGATGGGGGTGT	0.672000													11	12					0	0	0.001368	0	0
ALK	238	broad.mit.edu	37	2	29462661	29462661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:29462661C>T	ENST00000389048.3	-	13	3146	c.2240G>A	c.(2239-2241)gGg>gAg	p.G747E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	747					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGTGTTCTTCCCGCCTTTCCC	0.592000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				10	24					0	0	0.001368	0	0
PCDH18	54510	broad.mit.edu	37	4	138451129	138451129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:138451129G>A	ENST00000344876.4	-	1	2500	c.2114C>T	c.(2113-2115)tCc>tTc	p.S705F	PCDH18_ENST00000507846.1_Missense_Mutation_p.S485F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.S705F|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	705					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S705F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTCCTAAGGAAATAATTAT	0.423000													18	82					0	0	0.007413	0	0
RAP2B	5912	broad.mit.edu	37	3	152880782	152880782	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:152880782C>T	ENST00000323534.2	+	1	754	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	100					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGGACCAGATCATCCGCGTGA	0.627000													16	46					0	0	0.007413	0	0
CCDC135	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:57731954G>A	ENST00000360716.3	+	3	314	c.93G>A	c.(91-93)atG>atA	p.M31I	CCDC135_ENST00000394337.4_Missense_Mutation_p.M31I|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.M31I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	31						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGAAAATGATGAGGCCAG	0.582000													7	11					0	0	0.001984	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914713	39914713	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:39914713C>T	ENST00000425673.1	+	17	3178	c.2853C>T	c.(2851-2853)atC>atT	p.I951I	PLEKHG2_ENST00000458508.2_Silent_p.I921I|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Silent_p.I980I			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	980					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCAGAAATCCAAGTTCCAG	0.567000													43	100					0	0	0.003610	0	0
PPARA	5465	broad.mit.edu	37	22	46611088	46611088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:46611088C>T	ENST00000396000.2	+	4	492	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PPARA_ENST00000262735.5_Missense_Mutation_p.S76L|PPARA_ENST00000402126.1_Missense_Mutation_p.S76L|PPARA_ENST00000434345.2_Missense_Mutation_p.S76L|PPARA_ENST00000407236.1_Missense_Mutation_p.S76L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	76					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TCACCAGCTTCGAGCCCCTCC	0.547000													12	23					0	0	0.001855	0	0
LMBRD2	92255	broad.mit.edu	37	5	36116632	36116632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:36116632G>A	ENST00000296603.4	-	11	1828	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	456						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAAATACACGAATCCTGAAC	0.348000													27	72					0	0	0.003954	0	0
PLG	5340	broad.mit.edu	37	6	161152120	161152120	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:161152120G>C	ENST00000308192.9	+	11	1357	c.1294G>C	c.(1294-1296)Gat>Cat	p.D432H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	432	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)	TCCAGATGCCGATAAAGGCCC	0.512000													8	57					0	0	0.003080	0	0
UNC13A	23025	broad.mit.edu	37	19	17752302	17752302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:17752302C>T	ENST00000428389.2	-	22	2799	c.2800G>A	c.(2800-2802)Ggt>Agt	p.G934S	UNC13A_ENST00000551649.1_Missense_Mutation_p.G846S|UNC13A_ENST00000552293.1_Missense_Mutation_p.G846S|UNC13A_ENST00000252773.7_Missense_Mutation_p.G846S|UNC13A_ENST00000550896.1_Missense_Mutation_p.G844S|UNC13A_ENST00000519716.2_Missense_Mutation_p.G846S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	846					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATCGTCACCCTTGGCATCT	0.547000													18	33					0	0	0.007413	0	0
WDFY3	23001	broad.mit.edu	37	4	85694049	85694049	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85694049G>A	ENST00000322366.6	-	30	5195	c.4788C>T	c.(4786-4788)acC>acT	p.T1596T	WDFY3_ENST00000295888.4_Silent_p.T1596T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1596						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAACCGCAAAGGTTGGCAAAG	0.348000													5	25					0	0	0.000602	0	0
C11orf54	28970	broad.mit.edu	37	11	93487129	93487129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:93487129G>A	ENST00000528288.1	+	5	491	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	C11orf54_ENST00000528099.1_Missense_Mutation_p.E86K|C11orf54_ENST00000331239.4_Missense_Mutation_p.E86K|C11orf54_ENST00000354421.3_Missense_Mutation_p.E86K|C11orf54_ENST00000540113.1_Missense_Mutation_p.E67K	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	86						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AATTGCAAAAGAAATCAAGCT	0.348000													53	119					0	0	0.003610	0	0
NKX6-1	4825	broad.mit.edu	37	4	85416943	85416943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:85416943G>A	ENST00000295886.4	-	2	946	c.725C>T	c.(724-726)aCt>aTt	p.T242I	NKX6-1_ENST00000515820.2_5'UTR	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	242	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCCGGAAAAAGTGGGTCTCGT	0.488000													17	64					0	0	0.007413	0	0
DHX36	170506	broad.mit.edu	37	3	154001041	154001041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:154001041C>T	ENST00000496811.1	-	20	2392	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R757Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R757Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R742Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	771						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAAACCACGTCGCCTAGCCTC	0.388000													42	77					0	0	0.002852	0	0
CXXC1	30827	broad.mit.edu	37	18	47811704	47811704	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:47811704G>A	ENST00000285106.6	-	6	1371	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CXXC1_ENST00000412036.2_Silent_p.F219F|CXXC1_ENST00000589940.1_Silent_p.F219F	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	219					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.F219L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCGAGGAAGGGAAGTACTTGT	0.677000													13	25					0	0	0.007413	0	0
NPEPL1	79716	broad.mit.edu	37	20	57287539	57287539	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:57287539T>C	ENST00000356091.6	+	8	1193	c.905T>C	c.(904-906)tTc>tCc	p.F302S	NPEPL1_ENST00000525817.1_Missense_Mutation_p.F254S|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.F274S	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	302					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTCCAGGGTTTCAAAGACAAC	0.582000													29	50					0	0	0.001512	0	0
RUNX1T1	862	broad.mit.edu	37	8	93003912	93003912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:93003912G>A	ENST00000523629.1	-	7	1400	c.946C>T	c.(946-948)Cga>Tga	p.R316*	RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.R279*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.R327*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.R289*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.R316*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.R279*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.R279*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.R289*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	316					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTGGGGTGTCGATAGGAGTCC	0.547000													36	78					0	0	0.002222	0	0
CSMD1	64478	broad.mit.edu	37	8	3889440	3889440	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:3889440A>T	ENST00000602557.1	-	4	1152	c.597T>A	c.(595-597)gcT>gcA	p.A199A	CSMD1_ENST00000542608.1_Silent_p.A199A|CSMD1_ENST00000539096.1_Silent_p.A199A|CSMD1_ENST00000520002.1_Silent_p.A199A|CSMD1_ENST00000602723.1_Silent_p.A199A|CSMD1_ENST00000537824.1_Silent_p.A199A|CSMD1_ENST00000400186.3_Silent_p.A199A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	199	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCAAAAGGGAGCTGGGAAGT	0.537000													7	23					0	0	0.001984	0	0
ETV5	2119	broad.mit.edu	37	3	185823275	185823275	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:185823275C>T	ENST00000306376.5	-	4	390	c.144G>A	c.(142-144)caG>caA	p.Q48Q	ETV5_ENST00000537818.1_Silent_p.Q90Q|ETV5_ENST00000434744.1_Silent_p.Q48Q	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	48					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GACTGAGATCCTGAAATAGCT	0.388000			T	"""TMPRSS2, SCL45A3"""	Prostate								29	57					0	0	0.002836	0	0
SOS1	6654	broad.mit.edu	37	2	39213170	39213170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:39213170G>A	ENST00000426016.1	-	24	3883	c.3797C>T	c.(3796-3798)cCt>cTt	p.P1266L	SOS1_ENST00000395038.2_Missense_Mutation_p.P1251L|SOS1_ENST00000402219.2_Missense_Mutation_p.P1266L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1266					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TGTGCCGTGAGGAGAAGGTGT	0.532000									Noonan syndrome				37	75					0	0	0.003755	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299343	46299343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:46299343G>A	ENST00000597055.1	-	6	1985	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	RSPH6A_ENST00000600188.1_Silent_p.I382I|RSPH6A_ENST00000221538.3_Silent_p.I646I			Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	0	Glu-rich.					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						GACCCCAGCCGATGTAGATGT	0.498000													35	65					0	0	0.005524	0	0
GABRE	2564	broad.mit.edu	37	X	151131055	151131055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:151131055C>T	ENST00000370325.1	-	4	456	c.403G>A	c.(403-405)Gac>Aac	p.D135N	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.D135N			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	135					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAGGTGTCGTTGTAACAG	0.483000													35	19					0	0	0.003271	0	0
SCNN1G	6340	broad.mit.edu	37	16	23205548	23205548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:23205548G>A	ENST00000300061.2	+	5	1009	c.866G>A	c.(865-867)aGa>aAa	p.R289K		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	289					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TTCAACAACAGAGAAAATGAG	0.493000													26	87					0	0	0.003755	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958733	102958733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:102958733G>A	ENST00000311734.2	+	6	1000	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	IL1RL1_ENST00000404917.2_Missense_Mutation_p.E104K|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E221K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E221K			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	221	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGCACAAAATGAAATAAAGGA	0.363000													15	66					0	0	0.001523	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475648	52475648	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:52475648G>A	ENST00000231721.2	-	6	608	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	203	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CTCCACTTCGGAAGATCATGG	0.642000													17	12					0	0	0.007413	0	0
HK3	3101	broad.mit.edu	37	5	176311090	176311090	+	Missense_Mutation	SNP	C	C	T	rs150421022	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:176311090C>T	ENST00000292432.5	-	14	1994	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	635	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTGGCCCTCGCAGTCTGAT	0.607000													37	56					0	0	0.001951	0	0
ITGAD	3681	broad.mit.edu	37	16	31424472	31424472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31424472C>T	ENST00000389202.2	+	16	1950	c.1901C>T	c.(1900-1902)gCt>gTt	p.A634V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	634					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.A634V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGCCAAGGCTGTGTACCGG	0.612000													19	56					0	0	0.007413	0	0
NOMO1	23420	broad.mit.edu	37	16	14980679	14980679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:14980679C>T	ENST00000287667.7	+	28	3455	c.3284C>T	c.(3283-3285)tCc>tTc	p.S1095F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1095						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTTGGCCAGTCCCTGTTCTTC	0.468000													26	145					0	0	0.004878	0	0
ZNF536	9745	broad.mit.edu	37	19	30935403	30935403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:30935403G>A	ENST00000355537.3	+	2	1081	c.934G>A	c.(934-936)Gag>Aag	p.E312K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCTTCGCAGGAGGAGGAGCT	0.642000													41	64					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48383031	48383031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:48383031G>A	ENST00000380518.3	-	18	1266	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P299S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	368	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGAGCACCAGGGAAGCCAGGA	0.607000													12	30					0	0	0.001855	0	0
WDR4	10785	broad.mit.edu	37	21	44283681	44283681	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:44283681G>A	ENST00000398208.2	-	4	381	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.L108L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	108					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ATGAAAGTCAGGGCTGTACAC	0.602000													13	31					0	0	0.003163	0	0
AMPD2	271	broad.mit.edu	37	1	110170727	110170727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110170727C>T	ENST00000256578.3	+	10	1625	c.1265C>T	c.(1264-1266)tCg>tTg	p.S422L	AMPD2_ENST00000528454.1_Missense_Mutation_p.S304L|AMPD2_ENST00000528667.1_Missense_Mutation_p.S422L|AMPD2_ENST00000342115.4_Missense_Mutation_p.S341L|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.S303L|AMPD2_ENST00000358729.4_Missense_Mutation_p.S347L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	422					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.S422W(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCATGCCTCGTCCTGCATG	0.607000													12	18					0	0	0.000978	0	0
WASF3	10810	broad.mit.edu	37	13	27255399	27255399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:27255399C>T	ENST00000361042.4	+	8	1141	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S	WASF3_ENST00000335327.5_Missense_Mutation_p.P309S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	309	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCCCCGCCTCCCCCTCAGGC	0.682000													18	38					0	0	0.001523	0	0
SHANK2	22941	broad.mit.edu	37	11	70332129	70332129	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:70332129G>A	ENST00000338508.4	-	32	4271	c.4272C>T	c.(4270-4272)atC>atT	p.I1424I	SHANK2_ENST00000449833.2_Silent_p.I828I|SHANK2_ENST00000423696.2_Silent_p.I1044I|SHANK2_ENST00000409161.1_Silent_p.I827I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1044	SAM.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGTCATCGGGGATATCAAAAC	0.522000													42	62					0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43819763	43819763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43819763C>T	ENST00000382031.1	+	5	6837	c.6806C>T	c.(6805-6807)cCa>cTa	p.P2269L	MAP1A_ENST00000399453.1_Missense_Mutation_p.P2031L|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2031L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2031						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCTGACACTCCAACCTTCAGC	0.607000													6	46					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2820090	2820090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:2820090C>T	ENST00000602557.1	-	62	10084	c.9529G>A	c.(9529-9531)Gaa>Aaa	p.E3177K	CSMD1_ENST00000542608.1_Missense_Mutation_p.E2999K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E3177K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3000K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3176K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3000K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3177	Sushi 26.					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)		AAGAAGACTTCGGACTTATAG	0.522000													13	20					0	0	0.001368	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017784	101017784	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:101017784A>G	ENST00000537247.1	+	10	1843	c.889A>G	c.(889-891)Aat>Gat	p.N297D	GAS2L3_ENST00000266754.5_Missense_Mutation_p.N401D|GAS2L3_ENST00000547754.1_Missense_Mutation_p.N401D|GAS2L3_ENST00000539410.1_Missense_Mutation_p.N401D			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	401					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCTTCAAACAATGCATCATC	0.423000													28	60					0	0	0.005443	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991297	35991297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35991297C>T	ENST00000274278.3	-	1	403	c.46G>A	c.(46-48)Ggg>Agg	p.G16R	UGT3A1_ENST00000507113.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	16						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGGACCCCAGAAAGAAGG	0.622000													17	57					0	0	0.007413	0	0
PTPRK	5796	broad.mit.edu	37	6	128294288	128294288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:128294288C>T	ENST00000368227.3	-	30	4565	c.4199G>A	c.(4198-4200)cGa>cAa	p.R1400Q	PTPRK_ENST00000368215.3_Missense_Mutation_p.R1382Q|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1383Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1415Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1389Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1401Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1405Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1382	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)		CATGCCACTTCGCCCGCCACC	0.433000													25	67					0	0	0.003330	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923141	111923141	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:111923141T>C	ENST00000305815.5	-	17	2348	c.2096A>G	c.(2095-2097)aAg>aGg	p.K699R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K651R	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	699					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AAAAATATACTTAATGGTGTC	0.299000													34	71					0	0	0.002836	0	0
ERC2	26059	broad.mit.edu	37	3	56468381	56468381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:56468381G>A	ENST00000288221.6	-	2	910	c.655C>T	c.(655-657)Cag>Tag	p.Q219*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	219						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGACCTACCTGATTTTCTTCA	0.478000													18	40					0	0	0.006122	0	0
CACNA1S	779	broad.mit.edu	37	1	201030530	201030530	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:201030530C>T	ENST00000362061.3	-	25	3346	c.3120G>A	c.(3118-3120)gaG>gaA	p.E1040E	CACNA1S_ENST00000367338.3_Silent_p.E1040E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1040	Dihydropyridine binding (By similarity).				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)	AGATGGCCATCTCCACACGGT	0.527000													25	68					0	0	0.007291	0	0
GPR26	2849	broad.mit.edu	37	10	125447638	125447638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:125447638G>A	ENST00000284674.1	+	3	1029	c.976G>A	c.(976-978)Gac>Aac	p.D326N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	326					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCTCACAGGCGACTCTCACAG	0.567000													9	23					0	0	0.000673	0	0
GPR87	53836	broad.mit.edu	37	3	151012615	151012615	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:151012615T>A	ENST00000260843.4	-	3	883	c.419A>T	c.(418-420)tAt>tTt	p.Y140F	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	140						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACCTTCAGATAGCGATCAAT	0.413000													22	41					0	0	0.002780	0	0
PARP1	142	broad.mit.edu	37	1	226564857	226564857	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:226564857G>A	ENST00000366794.5	-	13	2036	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	631					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GATACTTCGTGAAATTTTTGG	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					67	118					0	0	0.003610	0	0
OR4K5	79317	broad.mit.edu	37	14	20388938	20388938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:20388938C>T	ENST00000315915.4	+	1	198	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCACTCCCCTATGTACTTT	0.413000													53	122					0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43469660	43469660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:43469660C>T	ENST00000039989.4	+	19	2788	c.2774C>T	c.(2773-2775)tCa>tTa	p.S925L		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	925							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCAGTTTCTTCAAAAAACATT	0.507000													12	23					0	0	0.001368	0	0
MED18	54797	broad.mit.edu	37	1	28661301	28661301	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:28661301C>T	ENST00000373842.4	+	3	656	c.447C>T	c.(445-447)ttC>ttT	p.F149F	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Silent_p.F149F	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	149					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAGATTTTCCGCATCCTGG	0.498000													19	50					0	0	0.001216	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740948	96740948	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:96740948C>T	ENST00000260682.6	+	7	982	c.970C>T	c.(970-972)Cag>Tag	p.Q324*		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	324					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTAAAGTCCAGGAAGAGAT	0.463000													24	70					0	0	0.005443	0	0
MUC15	143662	broad.mit.edu	37	11	26584708	26584708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:26584708C>T	ENST00000436318.2	-	3	1013	c.880G>A	c.(880-882)Gat>Aat	p.D294N	MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.D294N|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.D267N			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	267						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						GAAAATGAATCCGTTTTCCTT	0.398000													21	61					0	0	0.001882	0	0
PRDM10	56980	broad.mit.edu	37	11	129795112	129795112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:129795112G>A	ENST00000358825.5	-	13	1786	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	PRDM10_ENST00000526082.1_Nonsense_Mutation_p.Q433*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.Q429*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.Q433*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.Q515*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.Q489*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AACAGATGCTGAAGAGCTGCA	0.433000													18	31					0	0	0.006122	0	0
PGM1	5236	broad.mit.edu	37	1	64095621	64095621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:64095621C>T	ENST00000371083.4	+	3	840	c.472C>T	c.(472-474)Cca>Tca	p.P158S	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.P140S	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	140					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGTCCTGCTCCAGAAGCAAT	0.428000													11	37					0	0	0.001855	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96557431	96557431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:96557431C>T	ENST00000456556.1	-	46	2923	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.G198R|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.G368R					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GTTTTTTCTCCATGCTTTTTT	0.328000													3	4					0	0	0.004672	0	0
CNOT3	4849	broad.mit.edu	37	19	54652020	54652020	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:54652020C>T	ENST00000406403.1	+	10	2635	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	CNOT3_ENST00000358389.3_Silent_p.P163P|CNOT3_ENST00000221232.5_Silent_p.P344P			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	344	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGGGGTCCCCGCCCCCGCAG	0.716000													3	7					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9057356	9057356	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9057356C>T	ENST00000397910.4	-	3	30293	c.30090G>A	c.(30088-30090)acG>acA	p.T10030T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10032	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						AAGGTGAGGTCGTGACAGGTA	0.458000													13	36					0	0	0.001855	0	0
NFKB2	4791	broad.mit.edu	37	10	104161508	104161508	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:104161508G>C	ENST00000369966.3	+	21	2550	c.2300G>C	c.(2299-2301)gGa>gCa	p.G767A	NFKB2_ENST00000428099.1_Missense_Mutation_p.G767A|NFKB2_ENST00000189444.6_Missense_Mutation_p.G767A	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	767	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TAAGGGCCGGGACTGTCACTT	0.592000			T	IGH@	B-NHL								7	32					0	0	0.001984	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197743	48197743	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:48197743C>T	ENST00000396720.3	+	8	2849	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	885							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCTCCACCTCCTCTGCTGTGG	0.711000													3	3					0	0	0.000248	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931366	144931366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:144931366C>T	ENST00000529945.1	-	1	782	c.343G>A	c.(343-345)Gtt>Att	p.V115I	PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V115I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACATGTCAACCGTCCCATTC	0.532000			T	PDGFRB	MPD								46	182					0	0	0.003610	0	0
GRM3	2913	broad.mit.edu	37	7	86468243	86468243	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468243C>T	ENST00000361669.2	+	4	2512	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Silent_p.F63F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.F343F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	471					synaptic transmission	integral to plasma membrane				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)	TGTTCAATTTCCAAAATGTAG	0.428000													14	16					0	0	0.002450	0	0
TPR	7175	broad.mit.edu	37	1	186292853	186292853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186292853G>A	ENST00000367478.3	-	43	6558	c.6262C>T	c.(6262-6264)Cat>Tat	p.H2088Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2088					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGTGGGGCATGAATGGTCAGT	0.483000			T	NTRK1	papillary thyroid								49	111					0	0	0.003610	0	0
TAOK2	9344	broad.mit.edu	37	16	29998918	29998918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:29998918C>T	ENST00000308893.4	+	16	4368	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.R996W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R936W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1109					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTGGGGGACCGGGGTCTGTT	0.687000													21	71					0	0	0.001882	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808124	100808124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:100808124C>T	ENST00000372829.3	+	4	582	c.211C>T	c.(211-213)Cag>Tag	p.Q71*		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	71						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GGCCAAACTTCAGGGTGATTC	0.557000													12	6					0	0	0.001368	0	0
ZNF43	7594	broad.mit.edu	37	19	21992020	21992020	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:21992020A>G	ENST00000594012.1	-	7	1315	c.801T>C	c.(799-801)ctT>ctC	p.L267L	ZNF43_ENST00000595461.1_Silent_p.L267L|ZNF43_ENST00000354959.4_Silent_p.L273L|ZNF43_ENST00000598381.1_Silent_p.L267L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TATGGGTAGTAAGGATTGAGG	0.338000													29	46					0	0	0.001512	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179321405	179321405	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:179321405G>A	ENST00000356834.3	-	4	595	c.558C>T	c.(556-558)tcC>tcT	p.S186S	TBC1D9B_ENST00000355235.3_Silent_p.S186S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	186	GRAM 1.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCAGGAAGGAGTAGAAGC	0.652000													7	21					0	0	0.001984	0	0
OTX1	5013	broad.mit.edu	37	2	63282651	63282651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:63282651C>T	ENST00000282549.2	+	5	541	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	OTX1_ENST00000366671.3_Missense_Mutation_p.R89C	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	89						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GTTCAAGAACCGCCGCGCCAA	0.667000													8	15					0	0	0.006214	0	0
CNTROB	116840	broad.mit.edu	37	17	7849193	7849193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:7849193C>T	ENST00000380262.3	+	13	2807	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.P628S|CNTROB_ENST00000563694.1_Missense_Mutation_p.P628S	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	628	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)				TGGAGCGCCTCCTGTTCTTTG	0.597000													39	71					0	0	0.001951	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:119427724G>A	ENST00000369429.3	-	8	1449	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	TBX15_ENST00000207157.3_Silent_p.V374V			Q96SF7	TBX15_HUMAN	T-box 15	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000													12	27					0	0	0.001855	0	0
GNAL	2774	broad.mit.edu	37	18	11868595	11868595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:11868595C>T	ENST00000334049.6	+	9	1572	c.964C>T	c.(964-966)Cga>Tga	p.R322*	GNAL_ENST00000535980.1_3'UTR|GNAL_ENST00000535121.1_Nonsense_Mutation_p.R245*|GNAL_ENST00000423027.3_Nonsense_Mutation_p.R245*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.R245*|GNAL_ENST00000602628.1_Nonsense_Mutation_p.R38*	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	245					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CATGGTGATTCGAGAAGATAA	0.443000													33	62					0	0	0.004289	0	0
ZNF575	284346	broad.mit.edu	37	19	44039444	44039444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44039444G>A	ENST00000458714.2	+	5	1447	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	ZNF575_ENST00000314228.5_Missense_Mutation_p.G115S|ZNF575_ENST00000601282.1_Missense_Mutation_p.G115S			Q86XF7	ZN575_HUMAN	zinc finger protein 575	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CACGCACAGCGGCGCCCGCCC	0.721000													9	19					0	0	0.000673	0	0
CRMP1	1400	broad.mit.edu	37	4	5843134	5843134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:5843134G>A	ENST00000324989.7	-	8	1142	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.R236W|CRMP1_ENST00000397890.2_Missense_Mutation_p.R238W	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	238				Missing (in Ref. 6; AAK55500).	axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTGATGGCCCGGAACACCGCC	0.562000													41	66					0	0	0.002522	0	0
AK7	122481	broad.mit.edu	37	14	96871137	96871137	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96871137A>G	ENST00000267584.4	+	3	382	c.338A>G	c.(337-339)gAt>gGt	p.D113G	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	113					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTGGAGTGTGATGTTATTATT	0.458000													34	49					0	0	0.007835	0	0
C1orf94	84970	broad.mit.edu	37	1	34667806	34667806	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:34667806G>A	ENST00000488417.1	+	4	1512	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	C1orf94_ENST00000373374.3_Silent_p.L274L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	274							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGCTCAACCTGAACTATCCAC	0.522000													20	50					0	0	0.003954	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:22102951G>A	ENST00000542433.1	-	1	145	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGAAGAATGAAATCTGTCA	0.458000													36	86					0	0	0.002222	0	0
GALNT10	55568	broad.mit.edu	37	5	153792531	153792531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153792531G>A	ENST00000297107.6	+	10	1606	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.R163Q|GALNT10_ENST00000377661.2_Missense_Mutation_p.R428Q|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	490	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCTGCGTCCGAGGCCGTGGG	0.622000													8	26					0	0	0.003080	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256467	15256467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:15256467G>A	ENST00000378116.4	-	8	1126	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	374						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGCGGGCCAGGGAATTCTGAC	0.587000													13	38					0	0	0.002450	0	0
ZNF503	84858	broad.mit.edu	37	10	77158601	77158601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:77158601G>A	ENST00000372524.4	-	2	2333	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P616L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CACCGGCACGGGGGCGCCAGG	0.726000													4	7					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179478823	179478823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:179478823C>T	ENST00000589042.1	-	262	49525	c.49301G>A	c.(49300-49302)gGt>gAt	p.G16434D	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G14793D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7369D|TTN_ENST00000342175.6_Missense_Mutation_p.G7561D|TTN_ENST00000342992.6_Missense_Mutation_p.G13866D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7494D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14793	Fibronectin type-III 19.						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)			AACTGGTTCACCAACACCATA	0.393000													15	31					0	0	0.004990	0	0
ME2	4200	broad.mit.edu	37	18	48447507	48447507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:48447507G>A	ENST00000321341.5	+	10	1278	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ME2_ENST00000382927.3_Missense_Mutation_p.E336K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	336					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTCAGAACAAGAGGCACAAAA	0.303000													22	39					0	0	0.006320	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651510	1651510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:1651510G>A	ENST00000399676.2	+	1	478	c.440G>A	c.(439-441)gGg>gAg	p.G147E		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	147	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGTCCAAGGGGGGCTGTGGT	0.677000													21	37					0	0	0.006320	0	0
DCHS2	54798	broad.mit.edu	37	4	155156309	155156309	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:155156309C>T	ENST00000357232.3	-	25	8129	c.8130G>A	c.(8128-8130)ggG>ggA	p.G2710G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2710					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCTCCTTCCCCAAATGTTT	0.532000													12	36					0	0	0.001368	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238931	6238931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6238931G>A	ENST00000265978.4	-	9	2285	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	FAM160A2_ENST00000524416.1_Missense_Mutation_p.H629Y|FAM160A2_ENST00000449352.2_Missense_Mutation_p.H629Y	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	629					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGGCAGGTGACCAGGGccc	0.662000													6	10					0	0	0.001168	0	0
RAET1E	135250	broad.mit.edu	37	6	150211055	150211055	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:150211055G>A	ENST00000532335.1	-	3	658	c.312C>T	c.(310-312)ctC>ctT	p.L104L	RAET1E_ENST00000529948.1_Silent_p.L104L|RAET1E_ENST00000357183.4_Silent_p.L104L|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L68L|RP11-244K5.8_ENST00000606915.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	104	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGTCACAAAGGAGCATCCTGA	0.542000													19	59					0	0	0.002299	0	0
ATF1	466	broad.mit.edu	37	12	51207805	51207805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51207805C>T	ENST00000262053.3	+	5	363	c.341C>T	c.(340-342)cCa>cTa	p.P114L	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	114					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GCCATTGCCCCAAATGGAGCC	0.398000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								12	25					0	0	0.001855	0	0
TBX22	50945	broad.mit.edu	37	X	79286392	79286392	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:79286392T>C	ENST00000442340.1	+	9	1475	c.985T>C	c.(985-987)Tca>Cca	p.S329P	TBX22_ENST00000373294.5_Missense_Mutation_p.S449P|TBX22_ENST00000373296.3_Missense_Mutation_p.S449P|TBX22_ENST00000373291.1_Missense_Mutation_p.S329P	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	449					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGATTACAGTCACCTGGAAA	0.403000													28	25					0	0	0.002096	0	0
PGM1	5236	broad.mit.edu	37	1	64095622	64095622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:64095622C>T	ENST00000371083.4	+	3	841	c.473C>T	c.(472-474)cCa>cTa	p.P158L	PGM1_ENST00000540265.1_5'UTR|PGM1_ENST00000371084.3_Missense_Mutation_p.P140L	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	140					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTGCTCCAGAAGCAATA	0.428000													11	38					0	0	0.001855	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966929	58966929	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:58966929C>T	ENST00000391696.1	+	3	1520	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZNF324B_ENST00000545523.1_Silent_p.A206A|ZNF324B_ENST00000336614.4_Silent_p.A206A			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGGAGAGCCTTCGGGAATG	0.657000													7	22					0	0	0.004482	0	0
MYOC	4653	broad.mit.edu	37	1	171605844	171605844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:171605844C>T	ENST00000037502.5	-	3	795	c.736G>A	c.(736-738)Gga>Aga	p.G246R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	246	Olfactomedin-like.		G -> R (in GLC1A).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTAGTTCTCCACATCCTGGT	0.473000													29	46					0	0	0.001512	0	0
DAPL1	92196	broad.mit.edu	37	2	159672313	159672313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:159672313C>T	ENST00000309950.3	+	4	360	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	102					apoptosis|cell differentiation					prostate(1)	1						CTACATTATTCAGCAGCCTCG	0.443000													17	34					0	0	0.001216	0	0
SPANXN4	441525	broad.mit.edu	37	X	142113816	142113816	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:142113816T>G	ENST00000370504.3	+	1	99	c.16T>G	c.(16-18)Tcc>Gcc	p.S6A	SPANXN4_ENST00000446864.1_Missense_Mutation_p.S6A			Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	6										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACTTCCAGCACCAA	0.428000													6	1					0	0	0.004482	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262120	140262120	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140262120G>A	ENST00000289272.2	+	1	267	c.267G>A	c.(265-267)cgG>cgA	p.R89R	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.R89R|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_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)			TGAATTCTCGGATCGACCGCG	0.597000													34	141					0	0	0.004289	0	0
MYOT	9499	broad.mit.edu	37	5	137217693	137217693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:137217693G>A	ENST00000239926.4	+	6	1089	c.715G>A	c.(715-717)Gat>Aat	p.D239N	MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.D55N|MYOT_ENST00000515645.1_Missense_Mutation_p.D124N|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	239	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGATGTGAATGATCAGGATGC	0.368000													18	39					0	0	0.001216	0	0
DNAH5	1767	broad.mit.edu	37	5	13841134	13841134	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:13841134G>A	ENST00000265104.4	-	34	5694	c.5590C>T	c.(5590-5592)Ctg>Ttg	p.L1864L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1864	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)					AGTAGCTCCAGGAAAGCCTGA	0.403000									Kartagener syndrome				27	49					0	0	0.005443	0	0
GPR98	84059	broad.mit.edu	37	5	89949582	89949582	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:89949582C>T	ENST00000405460.2	+	20	4287	c.4191C>T	c.(4189-4191)tcC>tcT	p.S1397S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1397					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	p.S1397S(1)		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)		TGACACTTTCCCTTCATTATA	0.373000													5	20					0	0	0.001984	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720694	50720694	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:50720694C>T	ENST00000449103.1	-	19	3176	c.3036G>A	c.(3034-3036)caG>caA	p.Q1012Q	PLXNB2_ENST00000359337.4_Silent_p.Q1012Q			O15031	PLXB2_HUMAN	plexin B2	1012	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAAACCTCTGGATCAGGC	0.682000													18	29					0	0	0.001523	0	0
TRBV27	28560	broad.mit.edu	37	7	142423519	142423519	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142423519G>A	ENST00000506718.1	+	0	527				TRBV27_ENST00000390399.3_RNA																							ACAAGACCCAGGGCTGGGCTT	0.438000													13	30					0	0	0.004990	0	0
TENM4	26011	broad.mit.edu	37	11	78412931	78412931	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:78412931T>C	ENST00000278550.7	-	28	5189	c.4727A>G	c.(4726-4728)tAt>tGt	p.Y1576C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGACAGCTCATACATGTTCTG	0.522000													35	63					0	0	0.004878	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363870	4363870	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4363870G>A	ENST00000269886.3	-	6	649	c.471C>T	c.(469-471)caC>caT	p.H157H	SH3GL1_ENST00000598564.1_Silent_p.H93H|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Silent_p.H109H	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	157	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTTTCTTCAGGTGGTGCTGGA	0.632000			T	MLL	AL								9	39					0	0	0.000673	0	0
KRT32	3882	broad.mit.edu	37	17	39623313	39623313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:39623313C>T	ENST00000225899.3	-	1	368	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	89	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AAGGCCCCTTCGCTGTACCAG	0.612000													40	41					0	0	0.006230	0	0
DTX1	1840	broad.mit.edu	37	12	113496250	113496250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:113496250G>A	ENST00000257600.3	+	1	756	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	85	WWE 1.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTTTCGCCAGGACACAGGTGA	0.617000													32	53					0	0	0.003271	0	0
FPGT	8790	broad.mit.edu	37	1	74671073	74671073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:74671073C>T	ENST00000370898.2	+	4	1379	c.1342C>T	c.(1342-1344)Ccc>Tcc	p.P448S	FPGT_ENST00000534056.1_Missense_Mutation_p.P194S|TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT_ENST00000370894.4_3'UTR|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						AGCTGCCCTCCCCGCACATTC	0.413000													39	82					0	0	0.002222	0	0
SP7	121340	broad.mit.edu	37	12	53722077	53722077	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53722077G>A	ENST00000536324.2	-	3	1432	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	SP7_ENST00000303846.3_Silent_p.P383P|SP7_ENST00000537210.2_Silent_p.P365P	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CACTGGGAGGGGGACCCGGGC	0.667000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.004482	0	0
ASB4	51666	broad.mit.edu	37	7	95157127	95157127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:95157127G>A	ENST00000325885.5	+	3	561	c.490G>A	c.(490-492)Gcg>Acg	p.A164T	ASB4_ENST00000428113.1_Missense_Mutation_p.A164T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	164					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTTATAGGGGCGAATGTGAA	0.438000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	24					0	0	0.003080	0	0
OR5H15	403274	broad.mit.edu	37	3	97888442	97888442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:97888442C>T	ENST00000356526.2	+	1	899	c.899C>T	c.(898-900)tCa>tTa	p.S300L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S300L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTCATAGTTTCATTCATAAAA	0.308000													13	43					0	0	0.001368	0	0
SLC8A3	6547	broad.mit.edu	37	14	70527656	70527656	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:70527656C>T	ENST00000381269.2	-	3	2538	c.1784_splice	c.e3-1	p.V595_splice	SLC8A3_ENST00000534137.1_Splice_Site_p.V595_splice|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000356921.2_Splice_Site_p.V595_splice|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000533899.1_5'UTR	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	595	Calx-beta 2.				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)		TTATGGTTTTCCTGTAGGGAC	0.458000													12	36					0	0	0.001368	0	0
CA8	767	broad.mit.edu	37	8	61192324	61192324	+	Silent	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:61192324T>C	ENST00000317995.4	-	2	480	c.216A>G	c.(214-216)ccA>ccG	p.P72P		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	72					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CCACATAATTTGGGGAGAGGC	0.438000													18	37					0	0	0.007413	0	0
ASB11	140456	broad.mit.edu	37	X	15311436	15311436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:15311436C>T	ENST00000537676.1	-	4	385	c.313G>A	c.(313-315)Gga>Aga	p.G105R	ASB11_ENST00000344384.4_Missense_Mutation_p.G105R|ASB11_ENST00000480796.1_Missense_Mutation_p.G126R|ASB11_ENST00000380470.3_Missense_Mutation_p.G109R			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	126					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					ACTGTCACTCCATTGACCTAA	0.493000													46	18					0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2714934	2714934	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:2714934C>T	ENST00000399655.1	+	24	3403	c.3138C>T	c.(3136-3138)atC>atT	p.I1046I	CACNA1C_ENST00000399644.1_Silent_p.I1046I|CACNA1C_ENST00000399621.1_Silent_p.I1046I|CACNA1C_ENST00000399641.1_Silent_p.I1046I|CACNA1C_ENST00000344100.3_Silent_p.I1046I|CACNA1C_ENST00000399597.1_Silent_p.I1046I|CACNA1C_ENST00000399617.1_Silent_p.I1046I|CACNA1C_ENST00000399591.1_Silent_p.I1046I|CACNA1C_ENST00000399629.1_Silent_p.I1046I|CACNA1C_ENST00000399634.1_Silent_p.I1046I|CACNA1C_ENST00000347598.4_Silent_p.I1066I|CACNA1C_ENST00000399595.1_Silent_p.I1046I|CACNA1C_ENST00000402845.3_Silent_p.I1046I|CACNA1C_ENST00000327702.7_Silent_p.I1046I|CACNA1C_ENST00000399601.1_Silent_p.I1046I|CACNA1C_ENST00000399638.1_Silent_p.I1046I|CACNA1C_ENST00000406454.3_Silent_p.I1046I|CACNA1C_ENST00000480911.1_Silent_p.I1046I|CACNA1C_ENST00000335762.5_Silent_p.I1071I|CACNA1C_ENST00000399649.1_Silent_p.I1046I|CACNA1C_ENST00000399606.1_Silent_p.I1066I|CACNA1C_ENST00000399603.1_Silent_p.I1046I|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399637.1_Silent_p.I1046I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1066					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGCCTGCATCGGGGTCCAGC	0.552000													12	33					0	0	0.001368	0	0
CABP1	9478	broad.mit.edu	37	12	121093974	121093974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121093974G>A	ENST00000453000.1	+	1	873	c.361G>A	c.(361-363)Gga>Aga	p.G121R	CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.G42R|CABP1_ENST00000351200.2_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAGCTCCCGGGACCGCTCCT	0.632000													83	187					0	0	0.003610	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138107	26138107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:26138107C>T	ENST00000381655.2	+	16	1553	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.P431S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	431					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATGCCTCCTCCCTGTAGTGA	0.418000													15	62					0	0	0.003163	0	0
ATG2B	55102	broad.mit.edu	37	14	96798681	96798681	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:96798681G>T	ENST00000359933.4	-	10	2322	c.1429C>A	c.(1429-1431)Cca>Aca	p.P477T		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	477										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)		AGGTTGGATGGAAATGTTGAC	0.368000													38	87					2.13384e-23	3.36754e-23	0.003610	1	0
KBTBD8	84541	broad.mit.edu	37	3	67054579	67054579	+	Silent	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:67054579A>C	ENST00000295568.4	+	3	1241	c.1110A>C	c.(1108-1110)ggA>ggC	p.G370G	KBTBD8_ENST00000417314.2_Silent_p.G396G|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	396										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATGCAATCGGAGGTCGTGTTT	0.443000													85	66					0	0	0.003610	0	0
LOXL4	84171	broad.mit.edu	37	10	100012155	100012155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:100012155C>T	ENST00000260702.3	-	12	2056	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	636	Lysyl-oxidase like.					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)		GCCTTGTGCCCCTCAGCCACC	0.542000													38	97					0	0	0.003610	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586147	115586147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:115586147G>A	ENST00000371900.4	+	11	1497	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	470					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGTAGGCTGGAATTTACTGG	0.318000													33	38					0	0	0.004878	0	0
HTR7	3363	broad.mit.edu	37	10	92509249	92509249	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:92509249G>A	ENST00000371721.3	-	2	884	c.642C>T	c.(640-642)acC>acT	p.T214T	HTR7_ENST00000277874.6_Silent_p.T214T|HTR7_ENST00000371719.2_Silent_p.T214T|HTR7_ENST00000336152.3_Silent_p.T214T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	214					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTGGAGGTAAGGTGATGGAGG	0.502000													39	59					0	0	0.004289	0	0
CPSF1	29894	broad.mit.edu	37	8	145619979	145619979	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:145619979G>A	ENST00000349769.3	-	31	3541	c.3447C>T	c.(3445-3447)ccC>ccT	p.P1149P		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1149					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCAGGCTCGGGCACCACCT	0.612000													9	24					0	0	0.000978	0	0
TNXB	7148	broad.mit.edu	37	6	32020765	32020765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:32020765C>T	ENST00000375244.3	-	26	8998	c.8797G>A	c.(8797-8799)Gag>Aag	p.E2933K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2931K			P22105	TENX_HUMAN	tenascin XB	2978	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTTTCTTCCTCTGCAGCTGAG	0.642000													27	130					0	0	0.004656	0	0
CPS1	1373	broad.mit.edu	37	2	211527860	211527860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:211527860C>T	ENST00000233072.5	+	33	4137	c.3941C>T	c.(3940-3942)tCc>tTc	p.S1314F	CPS1_ENST00000430249.2_Missense_Mutation_p.S1320F|CPS1_ENST00000451903.2_Missense_Mutation_p.S863F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1314					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCATGTTTTCCTGGCCCCGG	0.388000													12	45					0	0	0.003163	0	0
CDH9	1007	broad.mit.edu	37	5	26881394	26881394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:26881394C>T	ENST00000231021.4	-	12	2393	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	741					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCATTCCCTTCATAGGCATAC	0.423000													23	49					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9074894	9074894	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9074894G>A	ENST00000397910.4	-	3	12755	c.12552C>T	c.(12550-12552)tcC>tcT	p.S4184S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4186	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						GTGGAGTAGAGGAGGGACTGT	0.507000													22	36					0	0	0.002780	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418302	38418302	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:38418302G>A	ENST00000322350.5	+	12	1975	c.1629G>A	c.(1627-1629)agG>agA	p.R543R	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.R309R|EGFLAM_ENST00000354891.3_Silent_p.R543R	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	543	Laminin G-like 1.					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)					TGAATGGGAGGAGAATTGACA	0.562000													12	37					0	0	0.001855	0	0
FLG	2312	broad.mit.edu	37	1	152277770	152277770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:152277770C>T	ENST00000368799.1	-	3	9627	c.9592G>A	c.(9592-9594)Gtc>Atc	p.V3198I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3198	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCCTGGACTGCCTGTGAG	0.547000									Ichthyosis				36	107					0	0	0.006999	0	0
FAF2	23197	broad.mit.edu	37	5	175921194	175921194	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175921194C>T	ENST00000261942.6	+	7	632	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	193					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GCAACACACTCTGTGCACCTG	0.388000													18	46					0	0	0.007413	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615496	70615496	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:70615496C>T	ENST00000310613.2	-	4	615	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	106					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATGTGTTTTCACAATCCGGG	0.388000													22	71					0	0	0.004656	0	0
ME1	4199	broad.mit.edu	37	6	84108094	84108094	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:84108094C>T	ENST00000369705.3	-	3	470	c.354G>A	c.(352-354)cgG>cgA	p.R118R	ME1_ENST00000543031.1_Silent_p.R43R|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	118					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACCTTGGCTTCCGAAACACCA	0.294000													9	26					0	0	0.000978	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580484	140580484	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140580484A>G	ENST00000354757.3	+	1	1137	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	PCDHB11_ENST00000536699.1_Silent_p.G14G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		379	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACAACGGAAGAATTGTTT	0.428000													27	70					0	0	0.001786	0	0
MYH7B	57644	broad.mit.edu	37	20	33575683	33575683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:33575683G>A	ENST00000262873.7	+	16	1600	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	461	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTCTTCATCGGGGTTCTGGAC	0.607000													45	47					0	0	0.003610	0	0
CCDC105	126402	broad.mit.edu	37	19	15124523	15124523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:15124523G>A	ENST00000292574.3	+	2	692	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	204					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ATGGGAGAAAGAGGAGCTGAA	0.478000													5	9					0	0	0.001984	0	0
KIAA0196	9897	broad.mit.edu	37	8	126061373	126061373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:126061373G>A	ENST00000318410.7	-	19	2603	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y	KIAA0196_ENST00000517845.1_Missense_Mutation_p.H604Y	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	752					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAAGAACGATGGAATCCATCC	0.413000													10	31					0	0	0.000673	0	0
NLRP8	126205	broad.mit.edu	37	19	56466513	56466513	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:56466513C>T	ENST00000291971.3	+	3	1160	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NLRP8_ENST00000590542.1_Silent_p.I363I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	363	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGAAAAAATCAAGTATTTCC	0.458000													22	45					0	0	0.001523	0	0
DPYSL5	56896	broad.mit.edu	37	2	27150136	27150136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27150136G>A	ENST00000288699.6	+	4	594	c.436G>A	c.(436-438)Gag>Aag	p.E146K	DPYSL5_ENST00000401478.1_Missense_Mutation_p.E146K	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	146					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)					AGCAGAAATGGAGACACTGGT	0.552000													8	12					0	0	0.003080	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263309	144263309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:144263309C>T	ENST00000360537.2	-	5	2557	c.644G>A	c.(643-645)aGc>aAc	p.S215N	PLAGL1_ENST00000367571.1_Missense_Mutation_p.S215N|PLAGL1_ENST00000354765.2_Missense_Mutation_p.S215N|PLAGL1_ENST00000437412.1_Missense_Mutation_p.S163N|PLAGL1_ENST00000429150.1_Missense_Mutation_p.S215N|PLAGL1_ENST00000392307.1_Missense_Mutation_p.S163N|PLAGL1_ENST00000444202.1_Missense_Mutation_p.S215N|PLAGL1_ENST00000392309.1_Missense_Mutation_p.S215N|PLAGL1_ENST00000416623.1_Missense_Mutation_p.S215N|PLAGL1_ENST00000367572.1_Missense_Mutation_p.S163N			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	215					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTCTGCAAGCTCTCTTTCAT	0.552000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	281					0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17414625	17414625	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:17414625C>T	ENST00000302539.4	-	39	4787	c.4662G>A	c.(4660-4662)cgG>cgA	p.R1554R	ABCC8_ENST00000389817.3_Silent_p.R1553R	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1553	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGATGGCACCCCGCTTCAGGA	0.627000													84	166					0	0	0.003610	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746221	37746221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:37746221C>T	ENST00000539465.1	+	16	4785	c.4192C>T	c.(4192-4194)Cac>Tac	p.H1398Y	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.H1398Y			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1398						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGAAAAGCCACATCTGGCC	0.652000													13	11					0	0	0.001368	0	0
OASL	8638	broad.mit.edu	37	12	121469317	121469317	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:121469317C>T	ENST00000257570.5	-	3	855	c.585G>A	c.(583-585)caG>caA	p.Q195Q	OASL_ENST00000339275.5_Silent_p.Q195Q	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	195					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAATTTCTCTGCAGCTCGC	0.582000													123	235					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9045834	9045834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9045834C>T	ENST00000397910.4	-	5	36000	c.35797G>A	c.(35797-35799)Gaa>Aaa	p.E11933K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11935	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						CTGGAAAATTCTGGGGGTCCA	0.493000													27	90					0	0	0.006320	0	0
SLC10A2	6555	broad.mit.edu	37	13	103705039	103705039	+	Silent	SNP	G	G	A	rs114146899	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:103705039G>A	ENST00000245312.3	-	3	1112	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	172					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGGAACAACGAGAGAAACCA	0.393000													12	34					0	0	0.001368	0	0
ITLN1	55600	broad.mit.edu	37	1	160850994	160850994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160850994C>T	ENST00000326245.3	-	5	629	c.514G>A	c.(514-516)Gac>Aac	p.D172N	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	172	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGCCAGTGTCCGTGCGGTAC	0.562000													20	69					0	0	0.002299	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45485811	45485811	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:45485811C>T	ENST00000359600.5	-	13	2827	c.2622G>A	c.(2620-2622)cgG>cgA	p.R874R		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	874							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATAAGGTCATCCGCATCACCT	0.522000													11	25					0	0	0.001855	0	0
KRT78	196374	broad.mit.edu	37	12	53233556	53233556	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53233556C>T	ENST00000359499.4	-	7	941	c.930G>A	c.(928-930)gaG>gaA	p.E310E	KRT78_ENST00000304620.4_Silent_p.E420E			Q8N1N4	K2C78_HUMAN	keratin 78	420	Coil 2.|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						ACCTGCACTCCTCGCCCTCCA	0.587000													15	20					0	0	0.003163	0	0
F2	2147	broad.mit.edu	37	11	46749618	46749618	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:46749618C>T	ENST00000311907.5	+	10	1259	c.1203C>T	c.(1201-1203)gtC>gtT	p.V401V	F2_ENST00000530231.1_Silent_p.V401V	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	401	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCGCTGGGTCCTCACCGCCG	0.622000													7	9					0	0	0.003080	0	0
GPR174	84636	broad.mit.edu	37	X	78427255	78427255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:78427255C>T	ENST00000276077.1	+	1	787	c.751C>T	c.(751-753)Cct>Tct	p.P251S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTTCAGTTTTCCTTTAGATTT	0.403000										HNSCC(63;0.18)			17	18					0	0	0.004990	0	0
ANPEP	290	broad.mit.edu	37	15	90348431	90348431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:90348431G>A	ENST00000300060.6	-	4	1088	c.775C>T	c.(775-777)Cca>Tca	p.P259S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	259	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGGTCTTCTGGAAGTGGGGTG	0.612000													13	88					0	0	0.002450	0	0
TTBK2	146057	broad.mit.edu	37	15	43045325	43045325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43045325G>A	ENST00000267890.6	-	14	2227	c.2119C>T	c.(2119-2121)Cca>Tca	p.P707S		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	707					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTTCCCTTGGAGAGTAAAGT	0.488000													10	88					0	0	0.006214	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754504	31754504	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:31754504C>T	ENST00000405650.1	-	0	736				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AAATTGGCTCCAGAAACATAC	0.448000													4	17					0	0	0.000248	0	0
CPLX2	10814	broad.mit.edu	37	5	175306946	175306946	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:175306946C>T	ENST00000359546.4	+	5	946	c.303C>T	c.(301-303)atC>atT	p.I101I	CPLX2_ENST00000515094.1_Silent_p.I101I|CPLX2_ENST00000393745.3_Silent_p.I101I	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	101					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.I101I(2)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGAAGGCCATCCCTGCGGGCT	0.627000													11	16					0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11597666	11597666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:11597666G>A	ENST00000262442.3	+	22	4842	c.4774G>A	c.(4774-4776)Gag>Aag	p.E1592K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1592K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1592	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCCTGGCAGAGTACCTCGA	0.483000													8	47					0	0	0.003080	0	0
KIF5C	3800	broad.mit.edu	37	2	149806414	149806414	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:149806414T>C	ENST00000435030.1	+	9	1144	c.776T>C	c.(775-777)tTg>tCg	p.L259S	KIF5C_ENST00000414838.2_Missense_Mutation_p.L164S|KIF5C_ENST00000397413.1_Missense_Mutation_p.L27S|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	259	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AATAAGTCTTTGTCTGCTCTT	0.453000													7	19					0	0	0.001984	0	0
DMKN	93099	broad.mit.edu	37	19	36002486	36002486	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:36002486C>A	ENST00000339686.3	-	5	921	c.745G>T	c.(745-747)Ggc>Tgc	p.G249C	DMKN_ENST00000440396.1_Missense_Mutation_p.G249C|DMKN_ENST00000418261.1_Missense_Mutation_p.G249C|DMKN_ENST00000447113.2_Missense_Mutation_p.G249C|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000424570.2_Missense_Mutation_p.G249C|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000451297.2_Missense_Mutation_p.G249C	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	249	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	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)			GACTGTGAGCCGCTGCCTCCC	0.637000													7	14					1.06961e-07	1.67132e-07	0.003080	1	0
TFRC	7037	broad.mit.edu	37	3	195779012	195779012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:195779012G>A	ENST00000360110.4	-	19	2253	c.2084C>T	c.(2083-2085)tCt>tTt	p.S695F	TFRC_ENST00000535031.1_Missense_Mutation_p.S413F|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.S695F|TFRC_ENST00000420415.1_Missense_Mutation_p.S614F	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	695	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCGGAAAGGAGACTCTTTTGG	0.448000			T	BCL6	NHL								14	22					0	0	0.002450	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	37					0	0	0.001882	0	0
SPACA4	171169	broad.mit.edu	37	19	49110474	49110474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:49110474G>A	ENST00000321762.1	+	1	475	c.239G>A	c.(238-240)aGg>aAg	p.R80K	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	80	UPAR/Ly6 1.				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GTCAGCTACAGGGGCGTCACC	0.672000													5	16					0	0	0.000602	0	0
RNF40	9810	broad.mit.edu	37	16	30779533	30779533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30779533C>T	ENST00000324685.6	+	13	2096	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	RNF40_ENST00000357890.5_Missense_Mutation_p.P454L|RNF40_ENST00000563683.1_Missense_Mutation_p.P514L|RNF40_ENST00000402121.3_Missense_Mutation_p.P246L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGCCAGGCCCTGTCAGTACC	0.632000													12	32					0	0	0.001368	0	0
TLL2	7093	broad.mit.edu	37	10	98164993	98164993	+	Silent	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:98164993A>T	ENST00000357947.3	-	10	1488	c.1263T>A	c.(1261-1263)ctT>ctA	p.L421L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTTACCCAAAAGGGGGGCTT	0.483000													46	76					0	0	0.003610	0	0
PCDH9	5101	broad.mit.edu	37	13	67800351	67800351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:67800351G>A	ENST00000544246.1	-	2	2913	c.2222C>T	c.(2221-2223)cCa>cTa	p.P741L	PCDH9_ENST00000377861.3_Missense_Mutation_p.P741L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P741L|PCDH9_ENST00000456367.1_Missense_Mutation_p.P741L|PCDH9_ENST00000377865.2_Missense_Mutation_p.P741L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	741	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGTAGGTGCTGGTTTTTCTTC	0.418000													35	56					0	0	0.004289	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328826	37328826	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:37328826C>T	ENST00000262825.5	+	9	1267	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	CSF2RB_ENST00000536485.1_Silent_p.S291S|CSF2RB_ENST00000403662.3_Silent_p.S344S|CSF2RB_ENST00000406230.1_Silent_p.S350S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	344	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCTCCATCCCTCAACGTGA	0.527000													10	22					0	0	0.000673	0	0
ZNF555	148254	broad.mit.edu	37	19	2853797	2853797	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:2853797C>T	ENST00000334241.4	+	4	1872	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	ZNF555_ENST00000591539.1_Silent_p.S577S|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		GTTCCTCATCCTTAAGGCGAC	0.388000													24	60					0	0	0.005443	0	0
ITGAX	3687	broad.mit.edu	37	16	31391899	31391899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:31391899C>T	ENST00000268296.4	+	28	3351	c.3230C>T	c.(3229-3231)tCc>tTc	p.S1077F	ITGAX_ENST00000562522.1_Missense_Mutation_p.S1077F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1077					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTCGACACATCCGTGTACTCC	0.557000													27	41					0	0	0.002836	0	0
NALCN	259232	broad.mit.edu	37	13	101997716	101997716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:101997716C>T	ENST00000251127.6	-	7	781	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	NALCN_ENST00000376196.3_Missense_Mutation_p.E234K|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	234						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCTTCTTCTAGCTCTGGT	0.438000													22	80					0	0	0.005443	0	0
CALCRL	10203	broad.mit.edu	37	2	188216918	188216918	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:188216918G>A	ENST00000409998.1	-	14	1832	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	CALCRL_ENST00000392370.3_Silent_p.L351L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L351L|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	351						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CATGGAATCAGCACAAATTCA	0.433000													8	45					0	0	0.003080	0	0
ZNF365	22891	broad.mit.edu	37	10	64159351	64159351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:64159351G>A	ENST00000395254.3	+	5	1307	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCACCCAAAGGGAAGGAACCA	0.567000													34	89					0	0	0.004878	0	0
GCKR	2646	broad.mit.edu	37	2	27720498	27720498	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27720498G>A	ENST00000264717.2	+	3	348		c.e3+1		GCKR_ENST00000424318.2_Splice_Site	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator						carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGTGCTGAAGGTACTAACCTT	0.433000													8	22					0	0	0.003080	0	0
JAK2	3717	broad.mit.edu	37	9	5044441	5044441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:5044441G>A	ENST00000381652.3	+	5	883	c.389G>A	c.(388-390)aGa>aAa	p.R130K	JAK2_ENST00000539801.1_Missense_Mutation_p.R130K|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	130	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGCAGCAACAGAGCCTATCGG	0.378000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				33	52					0	0	0.004289	0	0
MYO6	4646	broad.mit.edu	37	6	76550387	76550387	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:76550387T>A	ENST00000369981.3	+	8	918	c.639T>A	c.(637-639)caT>caA	p.H213Q	MYO6_ENST00000369977.3_Missense_Mutation_p.H213Q|MYO6_ENST00000369985.4_Missense_Mutation_p.H213Q|MYO6_ENST00000369975.1_Missense_Mutation_p.H213Q			Q9UM54	MYO6_HUMAN	myosin VI	213	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAGAAATACATTTTAATGAAA	0.373000													19	27					0	0	0.006122	0	0
LGR5	8549	broad.mit.edu	37	12	71977872	71977872	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:71977872C>T	ENST00000266674.5	+	18	2393	c.2082C>T	c.(2080-2082)acC>acT	p.T694T	LGR5_ENST00000536515.1_Silent_p.T622T|LGR5_ENST00000540815.2_Silent_p.T670T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	694						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGCCTTGACCATGGCCGCAG	0.537000													98	282					0	0	0.003610	0	0
CCDC73	493860	broad.mit.edu	37	11	32636158	32636158	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32636158A>G	ENST00000335185.5	-	16	1749	c.1706T>C	c.(1705-1707)gTt>gCt	p.V569A		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	569										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTATTTTCAACCTCCAGATT	0.289000													24	47					0	0	0.003330	0	0
PFKL	5211	broad.mit.edu	37	21	45733006	45733006	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:45733006C>T	ENST00000403390.1	+	6	714	c.714C>T	c.(712-714)gcC>gcT	p.A238A	PFKL_ENST00000349048.4_Silent_p.A191A|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	191					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCATCGATGCCATCACCACCA	0.677000													24	22					0	0	0.003954	0	0
SPG11	80208	broad.mit.edu	37	15	44864901	44864901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:44864901G>A	ENST00000261866.7	-	33	6339	c.6323C>T	c.(6322-6324)cCc>cTc	p.P2108L	SPG11_ENST00000535302.2_Missense_Mutation_p.P1995L|SPG11_ENST00000427534.2_Missense_Mutation_p.P2108L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2108					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCCCATGGGGAACGGAGGA	0.443000													13	31					0	0	0.002450	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143862	55143862	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:55143862C>T	ENST00000491143.2	+	2	1454	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	474					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCAACTTCTTCATGAACGCCC	0.577000													21	38					0	0	0.001523	0	0
PLIN4	729359	broad.mit.edu	37	19	4511782	4511782	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	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													27	168					0	0	0.002445	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632266	122632266	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122632266G>A	ENST00000195173.4	-	17	2586	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	SEMA5B_ENST00000357599.3_Silent_p.F762F|SEMA5B_ENST00000451055.2_Silent_p.F816F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	762	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCACGTCTTGAACTCCTGCG	0.726000													4	9					0	0	0.000602	0	0
OR52H1	390067	broad.mit.edu	37	11	5566205	5566205	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:5566205G>A	ENST00000322653.4	-	1	574	c.549C>T	c.(547-549)ccC>ccT	p.P183P	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	183					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)		AGTATGTGTGGGGTATGATGC	0.493000													17	31					0	0	0.006122	0	0
ANXA9	8416	broad.mit.edu	37	1	150956832	150956832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:150956832G>A	ENST00000368947.4	+	6	819	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	115					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGCCCACAGCCCAGTTTGA	0.557000													21	60					0	0	0.001882	0	0
DPYD	1806	broad.mit.edu	37	1	97658667	97658667	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:97658667C>T	ENST00000370192.3	-	20	2680	c.2580G>A	c.(2578-2580)caG>caA	p.Q860Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	860					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTTTCCCTTTCTGGTGACTCA	0.448000													36	57					0	0	0.006999	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688150	130688150	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:130688150G>A	ENST00000388747.4	-	8	803	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.N50N	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	253	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GCTCACCCAGGTTGATGGTCT	0.597000													16	36					0	0	0.004990	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675458	7675458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:7675458C>T	ENST00000446248.2	+	8	1039	c.938C>T	c.(937-939)cCc>cTc	p.P313L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P286L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	286					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGTGGCTGCCCCCTGTCCCTT	0.647000													44	90					0	0	0.002522	0	0
WDR55	54853	broad.mit.edu	37	5	140048690	140048690	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140048690C>T	ENST00000358337.5	+	6	924	c.687C>T	c.(685-687)tcC>tcT	p.S229S	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	229					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTGGCTCCAGTGAAGGTA	0.537000													16	19					0	0	0.004990	0	0
TSR3	115939	broad.mit.edu	37	16	1400074	1400074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:1400074G>A	ENST00000007390.2	-	4	794	c.688C>T	c.(688-690)Cag>Tag	p.Q230*		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		TCCTCCTCCTGGGGGCTCTCC	0.672000													7	8					0	0	0.004482	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032018	142032018	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142032018C>T	ENST00000547918.2	+	0	13																											GGTAAAGCTCCCATCCTGCCC	0.562000													4	13					0	0	0.001168	0	0
UBR1	197131	broad.mit.edu	37	15	43318759	43318759	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:43318759C>T	ENST00000290650.4	-	23	2613	c.2535_splice	c.e23+1	p.K845_splice	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	845					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTTTTCTACCTTGCTATGCT	0.338000													13	81					0	0	0.001368	0	0
ZNF536	9745	broad.mit.edu	37	19	31039981	31039981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:31039981C>T	ENST00000355537.3	+	4	3602	c.3455C>T	c.(3454-3456)aCc>aTc	p.T1152I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCCCGAAACCACGAGTAAG	0.552000													12	34					0	0	0.000978	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142437220	142437220	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:142437220G>A	ENST00000378004.3	+	17	1801	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ARHGAP26_ENST00000274498.4_Silent_p.Q482Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	482	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGAACCAGGAGTCTCGGG	0.443000													46	99					0	0	0.003610	0	0
HYKK	123688	broad.mit.edu	37	15	78807359	78807359	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:78807359C>T	ENST00000566332.1	+	3	447	c.387C>T	c.(385-387)ctC>ctT	p.L129L	HYKK_ENST00000388988.4_Silent_p.L129L|HYKK_ENST00000360519.3_Silent_p.L129L|HYKK_ENST00000563233.1_Silent_p.L129L|HYKK_ENST00000569878.1_Silent_p.L129L|HYKK_ENST00000408962.2_Silent_p.L129L					hydroxylysine kinase																		TGACTTACCTCCCAGGAAGAC	0.398000													13	28					0	0	0.002450	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965644	35965644	+	Silent	SNP	G	G	A	rs150885334		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:35965644G>A	ENST00000274278.3	-	4	1044	c.687C>T	c.(685-687)ttC>ttT	p.F229F	UGT3A1_ENST00000507113.1_Silent_p.F195F|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Silent_p.F229F|UGT3A1_ENST00000333811.4_Silent_p.F175F	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	229						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCTTCTGGGAAATGCTCCT	0.458000													25	43					0	0	0.003954	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63453898C>T	ENST00000322893.7	-	5	709	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					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)		GGGCAAATTTCGTCCAACCTT	0.388000													32	63					0	0	0.002445	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1													p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662000													7	68					0	0	0.001855	0	0
ZNF540	163255	broad.mit.edu	37	19	38103241	38103241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38103241C>T	ENST00000592533.1	+	5	1392	c.1060C>T	c.(1060-1062)Ccc>Tcc	p.P354S	ZNF540_ENST00000316433.4_Missense_Mutation_p.P354S|ZNF540_ENST00000589117.1_Missense_Mutation_p.P322S|ZNF540_ENST00000343599.5_Missense_Mutation_p.P354S	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGTAAAACCCTACGAATG	0.383000													18	42					0	0	0.007413	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374304	95374304	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:95374304C>T	ENST00000494840.1	-	0	1557					NR_077228.1																						AATGTCAGTTCGCTTAATTAT	0.448000													14	41					0	0	0.003163	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049501	69049501	+	Silent	SNP	C	C	T	rs146486959	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:69049501C>T	ENST00000295381.3	+	10	1646	c.1227C>T	c.(1225-1227)acC>acT	p.T409T	ARHGAP25_ENST00000479844.1_Silent_p.T103T|ARHGAP25_ENST00000409202.3_Silent_p.T410T|ARHGAP25_ENST00000409030.3_Silent_p.T402T|ARHGAP25_ENST00000409220.1_Silent_p.T403T|ARHGAP25_ENST00000467265.1_Silent_p.T370T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	409					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCAGCCCCACCGGACAGCAGC	0.512000													29	82					0	0	0.007291	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837272	40837272	+	Silent	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40837272C>A	ENST00000264638.4	+	5	766	c.549C>A	c.(547-549)atC>atA	p.I183I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	183					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACGATGCCATCTCCTACCGCT	0.652000													17	40					2.37509e-13	3.73494e-13	0.001523	1	0
FAM181A	90050	broad.mit.edu	37	14	94391701	94391701	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:94391701G>A	ENST00000267594.5	+	2	391	c.84G>A	c.(82-84)gcG>gcA	p.A28A	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Intron	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	28			A -> T (in dbSNP:rs10141024).							cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGAAAAGGGCGAGCACAGCAA	0.532000													10	22					0	0	0.000978	0	0
ANO5	203859	broad.mit.edu	37	11	22242655	22242655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:22242655C>T	ENST00000324559.8	+	5	510	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	65						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAAAAAAATCAGCAAAGCAA	0.323000													11	24					0	0	0.001368	0	0
BTAF1	9044	broad.mit.edu	37	10	93751879	93751879	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:93751879C>G	ENST00000265990.6	+	21	3166	c.2858C>G	c.(2857-2859)tCc>tGc	p.S953C		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	953					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTATTAGGATCCACCTCAGAA	0.353000													6	31					0	0	0.001984	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41450331	41450331	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:41450331C>T	ENST00000599198.1	+	0	1114					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GGCAGTCATCCGTGAGATTCA	0.537000													7	17					0	0	0.001984	0	0
OR4C16	219428	broad.mit.edu	37	11	55340503	55340503	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:55340503G>A	ENST00000314634.3	+	1	900	c.900G>A	c.(898-900)tgG>tgA	p.W300*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGAAGCTTTGGAGCAAGAAAT	0.338000													8	16					0	0	0.003080	0	0
CCT6P3	643180	broad.mit.edu	37	7	64526718	64526718	+	RNA	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:64526718G>C	ENST00000426828.1	+	0	429					NR_033416.1																						AGTAAGCAGAGAGATGGACAA	0.398000													11	9					0	0	0.001368	0	0
TERT	7015	broad.mit.edu	37	5	1278771	1278771	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:1278771C>T	ENST00000310581.5	-	6	2328	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	TERT_ENST00000334602.6_Silent_p.K757K|TERT_ENST00000508104.2_Silent_p.K757K|TERT_ENST00000296820.5_Silent_p.K757K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	757	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTTGAAGGCCTTGCGGACGT	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				80	183					0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10433055	10433055	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10433055C>T	ENST00000245503.5	-	24	3327	c.2943G>A	c.(2941-2943)gtG>gtA	p.V981V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V981V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	981					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						TGAGGTTTTTCACCTACAAAG	0.458000													62	103					0	0	0.003610	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747940	41747940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:41747940G>A	ENST00000226382.2	-	3	1188	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	277					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						ATGGGGCCGGGGCCGGGAGCC	0.731000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	24					0	0	0.000978	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764629	40764629	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:40764629G>A	ENST00000397128.2	-	8	1430	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	PRKAA1_ENST00000354209.3_Silent_p.F489F	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	474					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAATACTACGGAAATCCAGTA	0.363000													9	26					0	0	0.004482	0	0
ZNF607	84775	broad.mit.edu	37	19	38190444	38190444	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:38190444G>A	ENST00000355202.4	-	5	1183	c.588C>T	c.(586-588)ccC>ccT	p.P196P	ZNF607_ENST00000395835.3_Silent_p.P195P|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TACATTCATAGGGTTTCTCAA	0.398000													27	63					0	0	0.007291	0	0
IFT172	26160	broad.mit.edu	37	2	27676933	27676933	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:27676933C>T	ENST00000260570.3	-	33	3730	c.3627G>A	c.(3625-3627)ggG>ggA	p.G1209G		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1209					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCCAAGGCCCCCCGGGCCT	0.612000													24	58					0	0	0.002299	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:88854820G>A	ENST00000537554.1	-	2	3736	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369499.2_Silent_p.F58F|CNR1_ENST00000535130.1_Silent_p.F58F|CNR1_ENST00000549890.1_Silent_p.F58F|CNR1_ENST00000428600.2_Silent_p.F58F|CNR1_ENST00000468898.1_Silent_p.F25F|CNR1_ENST00000369501.2_Silent_p.F58F|CNR1_ENST00000362094.5_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458000													6	33					0	0	0.001984	0	0
RBM22	55696	broad.mit.edu	37	5	150071405	150071405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:150071405G>A	ENST00000199814.4	-	11	1292	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	RBM22_ENST00000447771.2_Missense_Mutation_p.P342S|RBM22_ENST00000540000.1_Missense_Mutation_p.P342S	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAAAGGAGGGGGTGGTCCC	0.522000													22	38					0	0	0.003954	0	0
ENPP3	5169	broad.mit.edu	37	6	132045206	132045206	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:132045206G>T	ENST00000414305.1	+	20	2101	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	ENPP3_ENST00000358229.5_Missense_Mutation_p.Q591H|ENPP3_ENST00000357639.3_Missense_Mutation_p.Q591H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	591					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGTGAATCAGATGCTAAATC	0.373000													12	21					1.5842e-08	2.47801e-08	0.001855	1	0
OR3A4P	390756	broad.mit.edu	37	17	3214091	3214091	+	RNA	SNP	A	A	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3214091A>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							ACTGACCCAAACTGTTGCCCT	0.547000													37	54					0	0	0.005524	0	0
SLC23A3	151295	broad.mit.edu	37	2	220027109	220027109	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220027109G>A	ENST00000455516.2	-	11	1520	c.1473C>T	c.(1471-1473)agC>agT	p.S491S	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Silent_p.S366S|SLC23A3_ENST00000409878.3_Silent_p.S483S	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	483					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCCAAGGGGCTCCAGCCTA	0.532000													10	16					0	0	0.000978	0	0
DAXX	1616	broad.mit.edu	37	6	33288175	33288175	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:33288175G>A	ENST00000374542.5	-	4	1437	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.A336A|DAXX_ENST00000266000.6_Silent_p.A411A	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	411	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AATCCAAGGAGGCTTCGGGGG	0.552000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								16	55					0	0	0.004990	0	0
MYH3	4621	broad.mit.edu	37	17	10535964	10535964	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10535964C>T	ENST00000583535.1	-	34	4872	c.4785G>A	c.(4783-4785)gtG>gtA	p.V1595V	MYH3_ENST00000226209.7_Silent_p.V1595V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1595					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						GCATGGTTTCCACTGTTCTCT	0.507000													76	148					0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74345118	74345118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:74345118C>T	ENST00000377044.4	-	9	2364	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	TMEM2_ENST00000377066.5_Missense_Mutation_p.D546N	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	609						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCAATACCATCTTCCAAAAAG	0.413000													15	26					0	0	0.006122	0	0
WNT8B	7479	broad.mit.edu	37	10	102239754	102239754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:102239754G>A	ENST00000343737.5	+	3	354	c.226G>A	c.(226-228)Ggt>Agt	p.G76S		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	76					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GTCCAGCCATGGTGGGCTTCG	0.592000													9	26					0	0	0.004482	0	0
PAMR1	25891	broad.mit.edu	37	11	35454294	35454294	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35454294G>C	ENST00000378880.2	-	11	2218	c.1773C>G	c.(1771-1773)ttC>ttG	p.F591L	PAMR1_ENST00000378878.3_Missense_Mutation_p.F480L|PAMR1_ENST00000532848.1_Missense_Mutation_p.F551L|PAMR1_ENST00000278360.3_Missense_Mutation_p.F608L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	591	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGGACTCCTGGAAGGAAGTGC	0.602000													15	26					0	0	0.004990	0	0
NDNF	79625	broad.mit.edu	37	4	121958041	121958041	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:121958041A>C	ENST00000379692.4	-	4	1611	c.1085T>G	c.(1084-1086)tTt>tGt	p.F362C		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	362										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AAACCGTAGAAACTTTGCTCC	0.428000													30	52					0	0	0.001512	0	0
ZNF629	23361	broad.mit.edu	37	16	30795488	30795488	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:30795488T>G	ENST00000262525.4	-	3	368	c.161A>C	c.(160-162)gAa>gCa	p.E54A		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GTCCTTGGATTCTGGACTCTG	0.572000													7	14					0	0	0.001984	0	0
DSG2	1829	broad.mit.edu	37	18	29122510	29122510	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29122510C>A	ENST00000261590.8	+	14	2238	c.2029C>A	c.(2029-2031)Caa>Aaa	p.Q677K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	677					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCCAGTGGATCAAGGGGGCAG	0.498000													23	45					6.32553e-13	9.94365e-13	0.004656	1	0
MR1	3140	broad.mit.edu	37	1	181021424	181021424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:181021424C>T	ENST00000367580.5	+	4	663	c.658C>T	c.(658-660)Ctc>Ttc	p.L220F	MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.L175F|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	220	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GGTTACAGCTCTCTTCTGCAA	0.413000													12	45					0	0	0.000978	0	0
PLOD1	5351	broad.mit.edu	37	1	12020721	12020721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:12020721C>T	ENST00000196061.4	+	10	1021	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	PLOD1_ENST00000376369.3_Nonsense_Mutation_p.Q379*	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	332					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCACAAGGCTCAGGTGGAAGA	0.622000													9	14					0	0	0.006214	0	0
DNPEP	23549	broad.mit.edu	37	2	220246092	220246092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:220246092G>A	ENST00000273075.4	-	13	1424	c.1204C>T	c.(1204-1206)Cga>Tga	p.R402*	DNPEP_ENST00000490371.1_5'UTR|DNPEP_ENST00000523282.1_Nonsense_Mutation_p.R410*|DNPEP_ENST00000373972.1_Nonsense_Mutation_p.R327*	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	392					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	GCCACCTCTCGGATCAGGGCC	0.602000													75	156					0	0	0.003610	0	0
BRICD5	283870	broad.mit.edu	37	16	2260557	2260557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:2260557C>T	ENST00000328540.3	-	2	1262	c.146G>A	c.(145-147)gGa>gAa	p.G49E	BRICD5_ENST00000562360.1_Missense_Mutation_p.G49E|BRICD5_ENST00000566018.1_Missense_Mutation_p.G49E	NM_182563.3	NP_872369.2			BRICHOS domain containing 5									p.G49A(1)									AAGAAGCCCTCCAGCCACAAC	0.657000													12	21					0	0	0.001855	0	0
FIBP	9158	broad.mit.edu	37	11	65652610	65652610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:65652610G>A	ENST00000338369.2	-	6	827	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	FIBP_ENST00000533045.1_Nonsense_Mutation_p.Q229*|FIBP_ENST00000357519.4_Nonsense_Mutation_p.Q232*	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	239					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TTCAAGTCCTGGAGAAATTCC	0.552000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	93					0	0	0.006230	0	0
HEPH	9843	broad.mit.edu	37	X	65479985	65479985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:65479985G>A	ENST00000519389.1	+	19	3421	c.3242G>A	c.(3241-3243)gGg>gAg	p.G1081E	HEPH_ENST00000374727.3_Missense_Mutation_p.G1030E|HEPH_ENST00000336279.5_Missense_Mutation_p.G760E|HEPH_ENST00000441993.2_Missense_Mutation_p.G1030E|HEPH_ENST00000343002.2_Missense_Mutation_p.G1027E|HEPH_ENST00000419594.1_Missense_Mutation_p.G838E			Q9BQS7	HEPH_HUMAN	hephaestin	1027	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						CTGTTCCCAGGGACTTTTGAG	0.522000													22	10					0	0	0.002780	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561589	84561589	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:84561589A>G	ENST00000286744.5	+	13	1640	c.1416A>G	c.(1414-1416)caA>caG	p.Q472Q	ADAMTSL3_ENST00000567476.1_Silent_p.Q472Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	472						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGTTATGCAAACTTGTAATC	0.423000													17	32					0	0	0.007413	0	0
GPR141	353345	broad.mit.edu	37	7	37780794	37780794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:37780794G>A	ENST00000447769.1	+	4	1088	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.E267K|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	267						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTTTATAACGAAATCTTCTT	0.383000													20	64					0	0	0.001216	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735192	43735192	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:43735192G>A	ENST00000360835.3	-	2	264	c.138C>T	c.(136-138)atC>atT	p.I46I	SCUBE1_ENST00000290460.7_Silent_p.I46I	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	46	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGATGGCATCGATGTGGCAGT	0.597000													14	33					0	0	0.002450	0	0
LAMC3	10319	broad.mit.edu	37	9	133911688	133911688	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:133911688G>A	ENST00000361069.4	+	4	1078	c.945G>A	c.(943-945)cgG>cgA	p.R315R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	315	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGTGGGCCCGGGGCACCGCCG	0.687000													9	25					0	0	0.004482	0	0
GRM3	2913	broad.mit.edu	37	7	86468433	86468433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:86468433G>A	ENST00000361669.2	+	4	2702	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.E127K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E407K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	535					synaptic transmission	integral to plasma membrane				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)	CATCCCCTGTGAACCCTACGA	0.532000													31	59					0	0	0.002445	0	0
FHL5	9457	broad.mit.edu	37	6	97052698	97052698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:97052698G>A	ENST00000326771.2	+	4	612	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	FHL5_ENST00000541107.1_Missense_Mutation_p.E78K	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	78	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCTTTGGTGGAAAAGCCTTT	0.468000													19	62					0	0	0.001882	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417509	150417509	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:150417509C>T	ENST00000307194.5	+	3	557	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGACATGTTCGGGGAGGACG	0.647000													16	29					0	0	0.004990	0	0
TECTB	6975	broad.mit.edu	37	10	114044339	114044339	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:114044339C>T	ENST00000369422.3	+	2	123	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	41	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)		TCACCAAAATCCCCGAGTGTC	0.453000													15	43					0	0	0.001216	0	0
QSER1	79832	broad.mit.edu	37	11	32955488	32955488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:32955488C>T	ENST00000399302.2	+	4	2632	c.2297C>T	c.(2296-2298)cCc>cTc	p.P766L	QSER1_ENST00000527788.1_Missense_Mutation_p.P527L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	766	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATAGTACATCCCTTCCTTCAG	0.408000													39	93					0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64453314	64453314	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:64453314C>T	ENST00000358025.3	+	19	2522	c.2292C>T	c.(2290-2292)acC>acT	p.T764T	SYNE2_ENST00000344113.4_Silent_p.T764T|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.T764T	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	764					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGTGGACACCTCAATGGAAG	0.353000													27	68					0	0	0.001512	0	0
NCAM2	4685	broad.mit.edu	37	21	22838998	22838998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:22838998G>A	ENST00000400546.1	+	13	1975	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	NCAM2_ENST00000284894.7_Missense_Mutation_p.G434R	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	576	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAATGGAAAGGGACAAGGAGA	0.323000													10	14					0	0	0.000673	0	0
NPTX2	4885	broad.mit.edu	37	7	98256593	98256593	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:98256593G>A	ENST00000265634.3	+	4	1170	c.1005G>A	c.(1003-1005)ggG>ggA	p.G335G		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	335	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGCACTGGGGAGAACCTGG	0.642000													20	25					0	0	0.002299	0	0
BBS4	585	broad.mit.edu	37	15	73029894	73029894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:73029894C>T	ENST00000268057.4	+	16	1567	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L	BBS4_ENST00000542334.1_Missense_Mutation_p.P337L|BBS4_ENST00000395205.2_Missense_Mutation_p.P517L|BBS4_ENST00000539603.1_Missense_Mutation_p.P497L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	509	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAATCAAGTCCAACTGAAACA	0.433000									Bardet-Biedl syndrome				4	15					0	0	0.000602	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491931	20491931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:20491931G>A	ENST00000573854.1	+	11	1432	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	ACSM2A_ENST00000417235.2_Missense_Mutation_p.D361N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D440N|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D440N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D212N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D440N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	440					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CATTCGAGGAGACTTTTGGCT	0.512000													22	98					0	0	0.005443	0	0
CD84	8832	broad.mit.edu	37	1	160523163	160523163	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:160523163C>T	ENST00000311224.4	-	4	831	c.765G>A	c.(763-765)agG>agA	p.R255R	CD84_ENST00000368054.3_Intron|CD84_ENST00000368051.3_Intron|CD84_ENST00000368048.3_Intron|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	255					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGGGAAAATCCTACCTTGTC	0.458000													5	41					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152500996	152500996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:152500996C>T	ENST00000397345.3	-	56	7832	c.7630G>A	c.(7630-7632)Gaa>Aaa	p.E2544K	NEB_ENST00000604864.1_Missense_Mutation_p.E2544K|NEB_ENST00000409198.1_Missense_Mutation_p.E2544K|NEB_ENST00000172853.10_Missense_Mutation_p.E2544K|NEB_ENST00000427231.2_Missense_Mutation_p.E2544K|NEB_ENST00000603639.1_Missense_Mutation_p.E2544K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2544					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)		CTGGCAATTTCCCGGGAGGCT	0.358000													43	52					0	0	0.003214	0	0
SORL1	6653	broad.mit.edu	37	11	121414426	121414426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:121414426G>A	ENST00000260197.7	+	13	1984	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	619					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)		CAATGCCACGGATGCCTTGGG	0.512000													34	51					0	0	0.003755	0	0
GABRA1	2554	broad.mit.edu	37	5	161300252	161300252	+	Missense_Mutation	SNP	C	C	T	rs146134200		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:161300252C>T	ENST00000428797.2	+	6	740	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	GABRA1_ENST00000023897.6_Missense_Mutation_p.H129Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.H129Y|GABRA1_ENST00000393943.4_Missense_Mutation_p.H129Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.H129Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.H129Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	129				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CACATTTTTCCACAATGGAAA	0.453000													24	38					0	0	0.003330	0	0
USP29	57663	broad.mit.edu	37	19	57641002	57641002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:57641002G>A	ENST00000254181.4	+	4	1413	c.959G>A	c.(958-960)tGg>tAg	p.W320*	USP29_ENST00000598197.1_Nonsense_Mutation_p.W320*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	320					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGTGTCCCATGGGAATATATT	0.393000													26	52					0	0	0.007291	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429773	4429773	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4429773C>T	ENST00000301280.5	+	10	1943	c.1842C>T	c.(1840-1842)tcC>tcT	p.S614S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	614					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)		AGTCCCTGTCCCACAGTGAGG	0.557000								Chromatin Structure					26	69					0	0	0.007291	0	0
SUN3	256979	broad.mit.edu	37	7	48056919	48056919	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:48056919C>T	ENST00000453192.2	-	4	435	c.192G>A	c.(190-192)caG>caA	p.Q64Q	SUN3_ENST00000297325.4_Silent_p.Q76Q|SUN3_ENST00000395572.2_Silent_p.Q76Q|SUN3_ENST00000412142.1_5'UTR			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	76						integral to membrane		p.Q76H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTGGATTTCTGAGGAACAT	0.289000													9	27					0	0	0.006214	0	0
G3BP1	10146	broad.mit.edu	37	5	151170506	151170506	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:151170506C>T	ENST00000394123.3	+	4	379	c.234C>T	c.(232-234)cgC>cgT	p.R78R	G3BP1_ENST00000356245.3_Silent_p.R78R|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	78	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCAAGATTCGCCATGTTGATG	0.408000													37	75					0	0	0.004289	0	0
SALL3	27164	broad.mit.edu	37	18	76757145	76757145	+	Silent	SNP	C	C	T	rs148335210	byFrequency	TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:76757145C>T	ENST00000536229.3	+	3	3820	c.3111C>T	c.(3109-3111)ccC>ccT	p.P1037P	SALL3_ENST00000575389.2_Silent_p.P1170P|SALL3_ENST00000537592.2_Silent_p.P1242P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P1242P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCAGCTCCCCGTGAGTCTTG	0.612000													29	70					0	0	0.001512	0	0
OR1A1	8383	broad.mit.edu	37	17	3119786	3119786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:3119786G>A	ENST00000304094.1	+	1	872	c.872G>A	c.(871-873)aGa>aAa	p.R291K		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TACAGTCTGAGAAATCGGGAC	0.458000													21	68					0	0	0.003954	0	0
CNTN5	53942	broad.mit.edu	37	11	100126527	100126527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:100126527G>A	ENST00000524871.1	+	17	2331	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CNTN5_ENST00000279463.3_Missense_Mutation_p.E681K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E681K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E681K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E607K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	681	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGTTGAGGAAATAACCGA	0.478000													22	77					0	0	0.003330	0	0
DSCAM	1826	broad.mit.edu	37	21	42080546	42080546	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:42080546C>T	ENST00000400454.1	-	2	672	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	65	Ig-like C2-type 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)				CATCGTAGATCTCCTCGCCCG	0.572000													24	44					0	0	0.002780	0	0
CTNND2	1501	broad.mit.edu	37	5	11159783	11159783	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:11159783G>A	ENST00000304623.8	-	12	2253	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	CTNND2_ENST00000511377.1_Silent_p.I597I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.I351I|CTNND2_ENST00000458100.2_Silent_p.I255I|CTNND2_ENST00000359640.2_Silent_p.I688I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	688					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTGAGTGGGGGATAATCACCG	0.527000													29	87					0	0	0.002096	0	0
OR7G2	390882	broad.mit.edu	37	19	9213977	9213977	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9213977C>T	ENST00000305456.2	-	1	5	c.6G>A	c.(4-6)ccG>ccA	p.P2P		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						Gcagctgcatcggcatcactc	0.428000													8	16					0	0	0.003080	0	0
CEP85	64793	broad.mit.edu	37	1	26584097	26584097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:26584097G>A	ENST00000252992.4	+	5	1044	c.913G>A	c.(913-915)Gga>Aga	p.G305R	CEP85_ENST00000451429.2_Missense_Mutation_p.G254R	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	305						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCTTCAGAATGGAGCCATCTG	0.493000													88	161					0	0	0.003610	0	0
SHROOM2	357	broad.mit.edu	37	X	9863835	9863835	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:9863835C>T	ENST00000380913.3	+	4	1977	c.1887C>T	c.(1885-1887)acC>acT	p.T629T		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	629					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TTGCCACCACCCTGCGGAATG	0.662000													7	6					0	0	0.001984	0	0
DUSP12	11266	broad.mit.edu	37	1	161722226	161722226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:161722226G>A	ENST00000367943.4	+	4	678	c.646G>A	c.(646-648)Gag>Aag	p.E216K	DUSP12_ENST00000484291.1_3'UTR	NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	216					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATTGAAAGATGAGGTTCTCTA	0.308000													68	164					0	0	0.003610	0	0
MYH9	4627	broad.mit.edu	37	22	36700082	36700082	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:36700082G>A	ENST00000216181.5	-	19	2579	c.2349C>T	c.(2347-2349)atC>atT	p.I783I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	783	IQ.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGAACCCTATGATGACGTCGG	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				6	32					0	0	0.003080	0	0
IQGAP2	10788	broad.mit.edu	37	5	75866423	75866423	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:75866423C>T	ENST00000274364.6	+	4	619	c.322C>T	c.(322-324)Cga>Tga	p.R108*	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	108	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCTTCATTTTCGACACACAGA	0.428000													22	94					0	0	0.002299	0	0
BAGE2	85319	broad.mit.edu	37	21	11038995	11038995	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:11038995C>T	ENST00000470054.1	-	0	1208									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)		GATTTGCCTCCTTGGTATGAA	0.393000													8	326					0	0	0.003080	0	0
OR8B8	26493	broad.mit.edu	37	11	124310205	124310205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:124310205G>T	ENST00000328064.2	-	1	849	c.777C>A	c.(775-777)taC>taA	p.Y259*		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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;0.0277)		AGGGTTTGAGGTACATGAATG	0.473000													22	44					1.96292e-10	3.07585e-10	0.001523	1	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:214878736C>T	ENST00000331683.5	+	13	1557	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000													25	87					0	0	0.004656	0	0
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:1584669G>A	ENST00000381297.4	-	2	993	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	261						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I261I(1)		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)				GGCGGCTCACGATGTGCGCCA	0.612000			T	CRLF2	"""B-ALL, Downs associated ALL"""								9	46					0	0	0.006214	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449926	62449926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:62449926C>T	ENST00000301998.4	+	2	823	c.571C>T	c.(571-573)Cac>Tac	p.H191Y	B3GNT2_ENST00000405767.1_Missense_Mutation_p.H191Y	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	191						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AGAGGACAACCACCCCGACCT	0.512000													22	34					0	0	0.002299	0	0
NFASC	23114	broad.mit.edu	37	1	204948605	204948605	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:204948605C>T	ENST00000367172.4	+	19	2422	c.2094C>T	c.(2092-2094)taC>taT	p.Y698Y	NFASC_ENST00000360049.4_Silent_p.Y694Y|NFASC_ENST00000513543.1_Silent_p.Y694Y|NFASC_ENST00000404076.1_Silent_p.Y677Y|NFASC_ENST00000338515.6_Silent_p.Y698Y|NFASC_ENST00000401399.1_Silent_p.Y698Y|NFASC_ENST00000367169.4_Silent_p.Y698Y|NFASC_ENST00000367171.4_Silent_p.Y683Y|NFASC_ENST00000404907.1_Silent_p.Y694Y|NFASC_ENST00000338586.6_Silent_p.Y698Y|NFASC_ENST00000367170.4_Silent_p.Y698Y|NFASC_ENST00000339876.6_Silent_p.Y698Y|NFASC_ENST00000539706.1_Silent_p.Y694Y			O94856	NFASC_HUMAN	neurofascin	698	Fibronectin type-III 1.				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)			ATGTCAACTACCAGTTCCGTG	0.597000													18	79					0	0	0.001216	0	0
ANK1	286	broad.mit.edu	37	8	41529905	41529905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:41529905G>A	ENST00000396942.1	-	38	5146	c.5063C>T	c.(5062-5064)aCc>aTc	p.T1688I	ANK1_ENST00000289734.7_Missense_Mutation_p.T1688I|ANK1_ENST00000379758.2_Missense_Mutation_p.T1688I|ANK1_ENST00000347528.4_Missense_Mutation_p.T1688I|ANK1_ENST00000265709.8_Missense_Mutation_p.T1729I|ANK1_ENST00000396945.1_Missense_Mutation_p.T1688I|ANK1_ENST00000352337.4_Missense_Mutation_p.T1688I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1688	55 kDa regulatory 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)			CTGACTCACGGTGGGGGAATG	0.562000													28	42					0	0	0.007291	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336589	35336589	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:35336589G>A	ENST00000278379.3	-	3	573	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC1A2_ENST00000395753.1_Silent_p.I88I|SLC1A2_ENST00000395750.1_Silent_p.I88I|SLC1A2_ENST00000606205.1_Silent_p.I97I	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	97					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGCTGGAGATGATTAGAGGGA	0.443000													46	79					0	0	0.003610	0	0
QARS	5859	broad.mit.edu	37	3	49136965	49136965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:49136965G>A	ENST00000306125.6	-	16	1841	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	QARS_ENST00000414533.1_Missense_Mutation_p.L491F			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	502					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTTGCTACAAGCTGGAGGATC	0.522000													29	84					0	0	0.002096	0	0
FAM135B	51059	broad.mit.edu	37	8	139163756	139163756	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:139163756T>G	ENST00000395297.1	-	13	3132	c.2962A>C	c.(2962-2964)Act>Cct	p.T988P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	988										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGGTCACAGTGGGGCACACA	0.493000										HNSCC(54;0.14)			14	31					0	0	0.002450	0	0
TLR1	7096	broad.mit.edu	37	4	38798250	38798250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:38798250G>A	ENST00000308979.2	-	4	2476	c.2203C>T	c.(2203-2205)Ccg>Tcg	p.P735S	TLR1_ENST00000502213.2_Missense_Mutation_p.P735S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	735	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAGTACTGCGGAATGGGTTCC	0.443000													21	65					0	0	0.001882	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395707	43395707	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:43395707C>T	ENST00000426263.3	-	5	695		c.e5-1		SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCCGAACACCTGGGGGAAGC	0.642000													4	30					0	0	0.001168	0	0
PROX1	5629	broad.mit.edu	37	1	214171352	214171352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:214171352C>T	ENST00000366958.4	+	2	2082	c.1474C>T	c.(1474-1476)Cca>Tca	p.P492S	PROX1_ENST00000498508.2_Missense_Mutation_p.P492S|PROX1_ENST00000435016.1_Missense_Mutation_p.P492S|PROX1_ENST00000261454.4_Missense_Mutation_p.P492S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	492					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGGCCTATCCATTTCAGAG	0.592000													22	47					0	0	0.005443	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620096	40620096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:40620096C>T	ENST00000343619.4	+	4	388	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P89S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P89S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P89S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P89S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P89S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	89					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CCCAGAGGTTCCCTTCCCCCG	0.393000													9	19					0	0	0.000978	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508623	113508623	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:113508623G>A	ENST00000273398.3	+	8	1032	c.924G>A	c.(922-924)agG>agA	p.R308R	ATP6V1A_ENST00000538620.1_Silent_p.R275R	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	308					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTATGAAGAGGACAGCTTTGG	0.368000													25	86					0	0	0.002096	0	0
KCNK10	54207	broad.mit.edu	37	14	88693765	88693765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:88693765C>T	ENST00000340700.5	-	4	1071	c.620G>A	c.(619-621)gGa>gAa	p.G207E	KCNK10_ENST00000312350.5_Missense_Mutation_p.G212E|KCNK10_ENST00000319231.5_Missense_Mutation_p.G212E	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	207					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AAAGATGGTTCCAAGTTGGTC	0.413000													36	87					0	0	0.002836	0	0
CHD4	1108	broad.mit.edu	37	12	6703773	6703773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:6703773G>A	ENST00000309577.6	-	15	2328	c.2165C>T	c.(2164-2166)aCa>aTa	p.T722I	CHD4_ENST00000544484.1_Missense_Mutation_p.T719I|CHD4_ENST00000544040.1_Missense_Mutation_p.T715I|CHD4_ENST00000357008.2_Missense_Mutation_p.T722I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	722					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTTCCACCTGTAGCATCCAG	0.542000													22	50					0	0	0.003330	0	0
FAIM3	9214	broad.mit.edu	37	1	207078479	207078479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:207078479G>A	ENST00000367091.3	-	8	1201	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Missense_Mutation_p.P241L|FAIM3_ENST00000420007.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	353					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					ATGGAGCCAGGGAGATTCAGA	0.517000													17	29					0	0	0.006122	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568204	7568204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:7568204C>T	ENST00000340209.4	+	2	395	c.98C>T	c.(97-99)gCc>gTc	p.A33V	RBFOX1_ENST00000547372.1_Missense_Mutation_p.A71V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A64V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A48V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A71V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A48V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A28V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A28V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A48V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A28V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A64V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	28					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACGCTTCGGCCCAGTTTGCT	0.602000													23	70					0	0	0.002780	0	0
SNCAIP	9627	broad.mit.edu	37	5	121799203	121799203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:121799203G>A	ENST00000261367.7	+	14	4412	c.2984G>A	c.(2983-2985)aGa>aAa	p.R995K	SNCAIP_ENST00000379536.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R995K|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R582K|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000542191.1_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_3'UTR|SNCAIP_ENST00000261368.8_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACATCAATAGAAAAATGAAG	0.358000													26	48					0	0	0.003271	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102291902	102291902	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:102291902C>T	ENST00000561463.1	+	0	668																											AGCCCAAGACCATCATGCACA	0.577000													14	17					0	0	0.003163	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247604	142247604	+	RNA	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:142247604G>A	ENST00000390361.3	-	0	11																											ACCAGATCAGGGTCACTGTGA	0.592000													21	64					0	0	0.002299	0	0
ATF1	466	broad.mit.edu	37	12	51207804	51207804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:51207804C>T	ENST00000262053.3	+	5	362	c.340C>T	c.(340-342)Cca>Tca	p.P114S	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	114					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						TGCCATTGCCCCAAATGGAGC	0.398000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """								12	25					0	0	0.001855	0	0
SEMA6A	57556	broad.mit.edu	37	5	115782965	115782965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:115782965G>A	ENST00000343348.6	-	19	3224	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	SEMA6A_ENST00000257414.8_Missense_Mutation_p.P830S|SEMA6A_ENST00000510263.1_Missense_Mutation_p.P813S|SEMA6A_ENST00000503865.1_Missense_Mutation_p.P192S|SEMA6A_ENST00000513137.1_Missense_Mutation_p.P240S|SEMA6A_ENST00000282394.6_Missense_Mutation_p.P290S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	813	Pro-rich.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ACCACGCTGGGGATGTGGCTG	0.642000													22	36					0	0	0.001882	0	0
KCNC3	3748	broad.mit.edu	37	19	50823902	50823902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:50823902G>A	ENST00000391818.2	-	2	186	c.128C>T	c.(127-129)cCt>cTt	p.P43L	KCNC3_ENST00000477616.1_Silent_p.A706A|KCNC3_ENST00000474951.1_Silent_p.A22A|KCNC3_ENST00000376959.2_Silent_p.A706A			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	15					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGAGGAAGCAGGCTCGGTCCC	0.652000													11	32					0	0	0.000673	0	0
MUC16	94025	broad.mit.edu	37	19	9088564	9088564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:9088564G>A	ENST00000397910.4	-	1	3454	c.3251C>T	c.(3250-3252)cCa>cTa	p.P1084L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1084	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1084Q(2)		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						GGACTGAGATGGAGATACTGA	0.448000													17	43					0	0	0.006122	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232960	26232960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:26232960C>T	ENST00000354667.4	-	10	1079	c.911G>A	c.(910-912)gGa>gAa	p.G304E	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G292E	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	304	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.G292A(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTTATAATTTCCAAAATCATT	0.368000			T	ETV1	prostate								15	46					0	0	0.002450	0	0
ARID5A	10865	broad.mit.edu	37	2	97217625	97217625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:97217625C>T	ENST00000454558.2	+	7	2333	c.1156C>T	c.(1156-1158)Cac>Tac	p.H386Y	ARID5A_ENST00000357485.3_Missense_Mutation_p.H454Y			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	454					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GGGTGCTGCCCACAGTGGGAA	0.667000													4	11					0	0	0.000248	0	0
TPM2	7169	broad.mit.edu	37	9	35685713	35685713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:35685713G>A	ENST00000378292.3	-	3	1507	c.305C>T	c.(304-306)gCc>gTc	p.A102V	TPM2_ENST00000329305.2_Missense_Mutation_p.A102V|TPM2_ENST00000378300.5_Missense_Mutation_p.A102V|TPM2_ENST00000360958.2_Missense_Mutation_p.A102V	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	102					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGCTCCTGGGCCCGGTCCAG	0.657000													38	47					0	0	0.005524	0	0
MAS1	4142	broad.mit.edu	37	6	160328409	160328409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:160328409G>A	ENST00000252660.4	+	1	436	c.422G>A	c.(421-423)cGa>cAa	p.R141Q		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	141					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATCTGGTACCGATGCCATCGC	0.527000													21	84					0	0	0.002299	0	0
DLEU7	220107	broad.mit.edu	37	13	51417397	51417397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:51417397G>A	ENST00000400393.3	-	1	678	c.386C>T	c.(385-387)tCg>tTg	p.S129L	DLEU7_ENST00000504404.1_Missense_Mutation_p.S129L|DLEU7-AS1_ENST00000413510.2_RNA	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	129													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GACCAGCTCCGAAGTCGAGTC	0.716000													6	8					0	0	0.001984	0	0
PSMD1	5707	broad.mit.edu	37	2	231937110	231937110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:231937110C>T	ENST00000308696.6	+	7	1024	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	PSMD1_ENST00000409643.1_Missense_Mutation_p.P288S|PSMD1_ENST00000373635.4_Missense_Mutation_p.P288S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGGTACTGTTCCGGGATCAGA	0.398000													33	73					0	0	0.002445	0	0
TAS2R1	50834	broad.mit.edu	37	5	9630016	9630016	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:9630016C>T	ENST00000382492.2	-	1	447	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAGATCCAGCGGAGCCATTT	0.378000													13	44					0	0	0.003163	0	0
PSD4	23550	broad.mit.edu	37	2	113940066	113940066	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:113940066C>T	ENST00000245796.6	+	2	228	c.33C>T	c.(31-33)ccC>ccT	p.P11P	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.P11P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	11					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGACCACCCCCAGCCCATGG	0.592000													6	32					0	0	0.001984	0	0
MFAP3	4238	broad.mit.edu	37	5	153432973	153432973	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:153432973C>T	ENST00000436816.1	+	3	1008	c.789C>T	c.(787-789)gaC>gaT	p.D263D	MFAP3_ENST00000439768.2_Silent_p.D117D|MFAP3_ENST00000322602.5_Silent_p.D263D	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	263						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		GAGTGGACGACCCTGATGACC	0.468000													28	74					0	0	0.006320	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:29012589G>A	ENST00000377175.1	-	1	428	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)|p.R122S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000													8	24					0	0	0.003080	0	0
KIF13A	63971	broad.mit.edu	37	6	17817384	17817384	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:17817384T>C	ENST00000378814.5	-	17	1866	c.1867A>G	c.(1867-1869)Atg>Gtg	p.M623V	KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378826.2_Missense_Mutation_p.M623V|KIF13A_ENST00000378843.2_Missense_Mutation_p.M623V|KIF13A_ENST00000259711.6_Missense_Mutation_p.M623V|KIF13A_ENST00000378816.5_Missense_Mutation_p.M623V	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	623					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CGCTCATACATGAGCCGCTGC	0.572000													19	47					0	0	0.001523	0	0
C12orf56	115749	broad.mit.edu	37	12	64697548	64697548	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:64697548T>A	ENST00000543942.2	-	6	1606	c.980A>T	c.(979-981)aAa>aTa	p.K327I	C12orf56_ENST00000333722.5_Missense_Mutation_p.K167I|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	330										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GTGCTTAATTTTCTCCTCAGA	0.323000													5	21					0	0	0.000602	0	0
ABCC1	4363	broad.mit.edu	37	16	16230362	16230362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:16230362C>T	ENST00000399408.2	+	30	4358	c.4183C>T	c.(4183-4185)Cga>Tga	p.R1395*	ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R1326*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R1329*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R1270*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R1385*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.R1385*			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1385	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGTTCCCTCCGAATGAACCT	0.552000													9	24					0	0	0.001368	0	0
GCAT	23464	broad.mit.edu	37	22	38212609	38212609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:38212609C>T	ENST00000323205.6	+	9	1285	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	GCAT_ENST00000248924.6_Missense_Mutation_p.P382S	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	382					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCCGTGGTCCCCAAGGGCAA	0.607000													16	46					0	0	0.004007	0	0
ALPK2	115701	broad.mit.edu	37	18	56149252	56149252	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:56149252T>G	ENST00000361673.3	-	13	6529	c.6316A>C	c.(6316-6318)Aac>Cac	p.N2106H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2106	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATGGAACAGTTGCCTTTAAAT	0.373000													32	74					0	0	0.004289	0	0
ENDOV	284131	broad.mit.edu	37	17	78389004	78389004	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:78389004G>A	ENST00000518137.1	+	1	38	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ENDOV_ENST00000523999.1_Missense_Mutation_p.E4K|ENDOV_ENST00000323854.5_Missense_Mutation_p.E4K|ENDOV_ENST00000520367.1_Missense_Mutation_p.E4K	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	4					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						CATGGCCCTGGAGGCGGCGGG	0.711000								Direct reversal of damage					14	25					0	0	0.003163	0	0
MROH2B	133558	broad.mit.edu	37	5	41019062	41019062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:41019062G>A	ENST00000399564.4	-	25	2950	c.2500C>T	c.(2500-2502)Cgg>Tgg	p.R834W	MROH2B_ENST00000506092.2_Missense_Mutation_p.R389W	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGCAGCCTCCGAATATTCTCC	0.463000													12	28					0	0	0.001855	0	0
TOP3A	7156	broad.mit.edu	37	17	18196105	18196105	+	Silent	SNP	A	A	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:18196105A>G	ENST00000321105.5	-	11	1349	c.1135T>C	c.(1135-1137)Ttg>Ctg	p.L379L	TOP3A_ENST00000542570.1_Silent_p.L284L|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	379					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						TGTTCCACCAACACCGTCAGG	0.512000													15	48					0	0	0.004007	0	0
HMCN1	83872	broad.mit.edu	37	1	186037103	186037103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:186037103C>T	ENST00000271588.4	+	50	8072	c.7843C>T	c.(7843-7845)Cct>Tct	p.P2615S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2615S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2615	Ig-like C2-type 24.				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						GGATGGCACTCCTTTAGAATC	0.413000													25	78					0	0	0.004656	0	0
XIRP2	129446	broad.mit.edu	37	2	168104646	168104646	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:168104646G>A	ENST00000409195.1	+	9	6833	c.6744G>A	c.(6742-6744)ttG>ttA	p.L2248L	XIRP2_ENST00000295237.9_Silent_p.L2248L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.L2026L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2073					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGTTCACTTGAAAAGCCAGG	0.368000													10	31					0	0	0.000673	0	0
OR10S1	219873	broad.mit.edu	37	11	123847940	123847940	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:123847940C>T	ENST00000531945.1	-	1	548	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		CTGCACACATCCTTCTGTTCA	0.572000													13	33					0	0	0.003163	0	0
OR6A2	8590	broad.mit.edu	37	11	6816667	6816667	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:6816667C>T	ENST00000332601.3	-	1	461	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCCATGATCCTGTTTGGATC	0.458000													19	38					0	0	0.001882	0	0
RARG	5916	broad.mit.edu	37	12	53621185	53621185	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr12:53621185G>A	ENST00000425354.2	-	3	632	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	RARG_ENST00000394426.1_Silent_p.L49L|RARG_ENST00000327550.3_Intron|RARG_ENST00000543762.1_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	49	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCTGGCCCAGGCCCCGGAAG	0.612000													19	48					0	0	0.002780	0	0
BDNF	627	broad.mit.edu	37	11	27679710	27679710	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:27679710G>A	ENST00000525528.1	-	1	1495	c.402C>T	c.(400-402)cgC>cgT	p.R134R	BDNF_ENST00000395983.3_Silent_p.R134R|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395981.3_Silent_p.R134R|BDNF_ENST00000395980.2_Silent_p.R134R|BDNF_ENST00000533246.1_Silent_p.R134R|BDNF_ENST00000418212.1_Silent_p.R134R|BDNF_ENST00000532997.1_Silent_p.R134R|BDNF_ENST00000395986.2_Silent_p.R149R|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000530861.1_Silent_p.R134R|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000420794.1_Silent_p.R134R|BDNF_ENST00000438929.1_Silent_p.R216R|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000533131.1_Silent_p.R134R|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000525950.1_Silent_p.R134R|BDNF_ENST00000439476.2_Silent_p.R134R|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000356660.4_Silent_p.R134R|BDNF_ENST00000395978.3_Silent_p.R134R|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000314915.6_Silent_p.R142R	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	134						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						GCTCCCCTCGGCGGGCAGGGT	0.552000													29	65					0	0	0.005443	0	0
KCNH5	27133	broad.mit.edu	37	14	63174358	63174358	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:63174358T>A	ENST00000322893.7	-	11	3103	c.2835A>T	c.(2833-2835)aaA>aaT	p.K945N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	945	CAD (involved in subunit assembly) (By similarity).				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)		GGGGTACGCTTTTTTCCGACA	0.468000													53	160					0	0	0.003610	0	0
NUP214	8021	broad.mit.edu	37	9	134025795	134025795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:134025795G>A	ENST00000359428.5	+	15	2269	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.E710K|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.E699K|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	709	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AATTGGGGAGGAGGTAAATTT	0.458000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								16	46					0	0	0.001523	0	0
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr7:128496609C>T	ENST00000325888.8	+	44	7550	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A2397V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2430	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647000													29	41					0	0	0.002836	0	0
PDIA5	10954	broad.mit.edu	37	3	122849384	122849384	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:122849384C>T	ENST00000316218.7	+	11	926	c.831C>T	c.(829-831)tcC>tcT	p.S277S		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	277	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGGCGGCTCCGTTTATCACC	0.587000													23	47					0	0	0.002299	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339787	29339787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:29339787G>A	ENST00000269205.5	-	1	1056	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F	SLC25A52_ENST00000579441.2_Missense_Mutation_p.L280F	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	280					transport	integral to membrane|mitochondrial inner membrane											CAAGAGATGAGGGACCGATGG	0.373000													19	43					0	0	0.002780	0	0
NLRP3	114548	broad.mit.edu	37	1	247586560	247586560	+	Silent	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:247586560C>T	ENST00000366497.2	+	3	1092	c.312C>T	c.(310-312)ccC>ccT	p.P104P	NLRP3_ENST00000391827.2_Silent_p.P104P|NLRP3_ENST00000366496.2_Silent_p.P104P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P104P|NLRP3_ENST00000336119.3_Silent_p.P104P|NLRP3_ENST00000348069.2_Silent_p.P104P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	104					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	p.P104P(1)		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)			TTTCGAATCCCACTGTGATAT	0.408000													24	97					0	0	0.005443	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003525	34003525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:34003525G>A	ENST00000382491.3	-	28	4485	c.4361C>T	c.(4360-4362)tCa>tTa	p.S1454L	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1501L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1540L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1501	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAGTAAGTCTGAACAAGCTGA	0.438000													9	84					0	0	0.006214	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899952	45899952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45899952G>A	ENST00000418234.2	-	4	641	c.563C>T	c.(562-564)cCc>cTc	p.P188L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P188L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	188	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTCCGCCAGGGGGCTGCCGCG	0.796000													6	11					0	0	0.001168	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033190	20033190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:20033190C>T	ENST00000377340.2	-	2	311	c.280G>A	c.(280-282)Gag>Aag	p.E94K	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E82K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	94					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGCGCGTCCTCCTTGCGGCAG	0.662000													24	40					0	0	0.002780	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281652	140281652	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:140281652G>A	ENST00000458420.3	+	14	2402		c.e14-1			NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2						homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCTTGGCACAGGTGTGGGCTC	0.567000										HNSCC(16;0.037)			21	36					0	0	0.003330	0	0
ARNTL	406	broad.mit.edu	37	11	13399896	13399896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:13399896G>A	ENST00000389708.3	+	17	1877	c.1522G>A	c.(1522-1524)Gga>Aga	p.G508R	ARNTL_ENST00000403290.1_Missense_Mutation_p.R476K|ARNTL_ENST00000361003.4_Missense_Mutation_p.R358K|ARNTL_ENST00000403482.3_Missense_Mutation_p.R474K|ARNTL_ENST00000403510.3_Missense_Mutation_p.R432K|ARNTL_ENST00000401424.1_Missense_Mutation_p.R433K|ARNTL_ENST00000389707.4_Missense_Mutation_p.R475K|ARNTL_ENST00000396441.3_Missense_Mutation_p.R475K			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGCCCAAAGAGGACCCACCCC	0.468000													7	14					0	0	0.001984	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531768	140531768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140531768G>A	ENST00000231136.1	+	1	1930	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D508N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		644	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTGTCAAGGACAATGGCGA	0.701000													13	44					0	0	0.003163	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38124821	38124821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr8:38124821C>T	ENST00000529359.1	-	4	502	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PPAPDC1B_ENST00000419686.2_Missense_Mutation_p.E143K|PPAPDC1B_ENST00000422581.2_Missense_Mutation_p.E143K|PPAPDC1B_ENST00000424479.2_Missense_Mutation_p.E143K|PPAPDC1B_ENST00000531823.1_Missense_Mutation_p.E11K			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	143					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			TTTCGGCCCTCATTCACCACG	0.473000													18	43					0	0	0.001216	0	0
REV1	51455	broad.mit.edu	37	2	100050846	100050846	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:100050846G>A	ENST00000258428.3	-	8	1614	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.N462N	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	462	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGCTGGGGGTTAGCGCCAG	0.453000								Direct reversal of damage					26	50					0	0	0.005443	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													13	219					0	0	0.003163	0	0
PLCB1	23236	broad.mit.edu	37	20	8770196	8770196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:8770196C>T	ENST00000378641.3	+	30	3785	c.3310C>T	c.(3310-3312)Cag>Tag	p.Q1104*	PLCB1_ENST00000338037.6_Nonsense_Mutation_p.Q1104*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.Q1104*	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1104					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						GTCATATATCCAGGAAGTGGT	0.423000													50	74					0	0	0.003610	0	0
KIAA0368	23392	broad.mit.edu	37	9	114206667	114206667	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:114206667G>A	ENST00000259335.4	-	5	794	c.795C>T	c.(793-795)tcC>tcT	p.S265S	KIAA0368_ENST00000338205.5_Silent_p.S87S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGTGACAAAGGAAACTGCAG	0.383000													24	28					0	0	0.003330	0	0
ADH1B	125	broad.mit.edu	37	4	100229018	100229018	+	Silent	SNP	G	G	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:100229018G>T	ENST00000305046.8	-	9	1174	c.1107C>A	c.(1105-1107)atC>atA	p.I369I	ADH1B_ENST00000394887.3_Silent_p.I329I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	369					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGACGGTACGGATACTGCAAT	0.453000													10	35					6.40141e-05	9.96376e-05	0.000978	1	0
CNGA2	1260	broad.mit.edu	37	X	150912081	150912081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chrX:150912081G>A	ENST00000329903.4	+	6	1139	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	369					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTGGGAAATGTGGGC	0.512000													36	13					0	0	0.001951	0	0
KLK1	3816	broad.mit.edu	37	19	51326959	51326959	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:51326959C>T	ENST00000301420.2	-	1	81	c.46_splice	c.e1+1	p.G16_splice	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	16					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTCACCAGTCCCCCCC	0.652000													17	21					0	0	0.004990	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028069	45028069	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:45028069C>T	ENST00000454753.1	-	0	700							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGGGCATCTCGAGCTTCACA	0.532000													83	236					0	0	0.003610	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664194	169664194	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr3:169664194C>T	ENST00000483289.2	-	0	3100				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CCTTGTACTCCATTTTTGATC	0.507000													23	27					0	0	0.002780	0	0
RBM11	54033	broad.mit.edu	37	21	15599409	15599409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr21:15599409C>T	ENST00000400577.3	+	5	650	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	214							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCCGTGTCTTCCTCACTGAAT	0.453000													94	156					0	0	0.003610	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215098	140215098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr5:140215098G>A	ENST00000525929.1	+	1	1130	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R377Q	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTTTGACCGAGATTTTGGA	0.507000													33	94					0	0	0.002836	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858016	9858016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:9858016G>A	ENST00000396573.2	-	14	3694	c.3385C>T	c.(3385-3387)Cac>Tac	p.H1129Y	GRIN2A_ENST00000330684.3_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.H1129Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.H972Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.H1129Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1129					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)	GGATCTAAGTGGAAACCAGGC	0.522000													29	86					0	0	0.007291	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171733	4171733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:4171733C>T	ENST00000078445.2	+	10	1300	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*|CREB3L3_ENST00000602147.1_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	385					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACCCCGACCCGAGGC	0.642000													19	88					0	0	0.007413	0	0
LGSN	51557	broad.mit.edu	37	6	63990070	63990070	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr6:63990070G>A	ENST00000370657.4	-	4	1419	c.1386C>T	c.(1384-1386)gcC>gcT	p.A462A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	462					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTGCCACAAGGGCATCTTCTA	0.428000													22	43					0	0	0.002299	0	0
MYH1	4619	broad.mit.edu	37	17	10408783	10408783	+	Silent	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:10408783G>A	ENST00000226207.5	-	20	2314	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	740	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTGCTATCGATGAATTGTC	0.413000													10	40					0	0	0.006214	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895296	42895296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:42895296G>A	ENST00000399770.2	+	1	13	c.13G>A	c.(13-15)Gag>Aag	p.E5K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	5					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GCTTAAAAGGGAGATGAAGCC	0.507000													22	40					0	0	0.002299	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143663	61143663	+	RNA	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr20:61143663C>T	ENST00000475015.1	-	0	675				C20orf166-AS1_ENST00000412495.1_RNA																							ATCAGATGGTCCTTCCCGGCA	0.672000													15	42					0	0	0.004990	0	0
F5	2153	broad.mit.edu	37	1	169541483	169541483	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:169541483T>A	ENST00000367796.3	-	3	550	c.349A>T	c.(349-351)Att>Ttt	p.I117F	F5_ENST00000546081.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.I117F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	117	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGTACCTAATTCCTTGAGGA	0.333000													14	36					0	0	0.003163	0	0
ZNF175	7728	broad.mit.edu	37	19	52090197	52090197	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:52090197T>G	ENST00000262259.2	+	5	971	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	205					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TACAGAAAGTTTGAAGCTGAA	0.438000													18	52					0	0	0.006122	0	0
AQP4	361	broad.mit.edu	37	18	24440749	24440749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr18:24440749C>T	ENST00000383168.4	-	4	808	c.680G>A	c.(679-681)tGg>tAg	p.W227*	AQP4_ENST00000440832.3_Nonsense_Mutation_p.W205*|AQP4_ENST00000581374.1_Nonsense_Mutation_p.W205*|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	227					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATGGTTTTCCCAATTTCCCAT	0.408000													44	101					0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19339322	19339322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:19339322G>A	ENST00000252575.5	+	8	2936	c.2893G>A	c.(2893-2895)Ggc>Agc	p.G965S	NCAN_ENST00000538881.1_Missense_Mutation_p.G416S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	965					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)			TGTCACCCTGGGCATAGAGGA	0.652000													47	96					0	0	0.003610	0	0
RBM15	64783	broad.mit.edu	37	1	110883707	110883707	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:110883707delT	ENST00000369784.3	+	1	2580	c.1680delT	c.(1678-1680)ccfs	p.P560fs	RBM15_ENST00000602849.1_Frame_Shift_Del_p.P560fs|RBM15_ENST00000487146.2_Frame_Shift_Del_p.P560fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	560					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CACCAGACCCTTTGAGGGGTG	0.552			T	MKL1	acute megakaryocytic leukemia								7	42	---	---	---	---					
DDX20	11218	broad.mit.edu	37	1	112309105	112309105	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr1:112309105delT	ENST00000475700.1	+	3	3241	c.883delT	c.(883-885)ctfs	p.S295fs	DDX20_ENST00000369702.4_Frame_Shift_Del_p.S687fs			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	687					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGACTCTGAATCTACGCCTGT	0.428													22	61	---	---	---	---					
DPP10	57628	broad.mit.edu	37	2	116510770	116510770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:116510770delT	ENST00000410059.1	+	11	1451	c.971delT	c.(970-972)gtfs	p.V324fs	DPP10_ENST00000393147.2_Frame_Shift_Del_p.V328fs|DPP10_ENST00000310323.8_Frame_Shift_Del_p.V317fs|DPP10_ENST00000409163.1_Frame_Shift_Del_p.V274fs	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	324					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATCACTATGGTTAAATGGGTA	0.368													9	37	---	---	---	---					
TTC21B	79809	broad.mit.edu	37	2	166737216	166737216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr2:166737216delA	ENST00000243344.7	-	27	3915	c.3778delT	c.(3778-3780)atfs	p.Y1260fs	TTC21B_ENST00000536175.1_Frame_Shift_Del_p.Y198fs	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1260						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGATTGCTATATTTCCATGCC	0.343													8	42	---	---	---	---					
GRK4	2868	broad.mit.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)cafs	p.Q219fs	GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs|GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393													7	180	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971173	21971186	+	Frame_Shift_Del	DEL	AGCTCCGCCACTCG	AGCTCCGCCACTCG	-	rs121913382		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:21971173_21971186delAGCTCCGCCACTCG	ENST00000579755.1	-	2	507_520	c.215_228delCGAGTGGCGGAGCT	c.(214-228)cfs	p.PSGGA72fs	CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.RVAEL7fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSGGA113fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.RVAEL58fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.RVAEL7fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.RVAEL58fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.RVAEL7fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.RVAEL7fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.RVAEL58fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSGGA72fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.RVAEL58fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.RVAEL7fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			C -> G (in an esophagus tumor).		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.R58*(78)|p.?(45)|p.E61*(10)|p.M53_R58del(3)|p.P113L(3)|p.E61fs*80(2)|p.L62del(2)|p.V59fs*61(2)|p.V59fs*82(2)|p.R58fs*88(2)|p.R58fs*59(2)|p.M54fs*61(2)|p.E61fs*49(2)|p.A60V(2)|p.V59fs*63(1)|p.V59fs*60(1)|p.V59fs*45(1)|p.R58fs*62(1)|p.A60fs*86(1)|p.E61fs*50(1)|p.L62fs*86(1)|p.E61fs*54(1)|p.E61fs*55(1)|p.E61_L94del(1)|p.E61fs*59(1)|p.A57_R58>V*(1)|p.G116fs*>53(1)|p.R58R(1)|p.0(1)|p.R58Q(1)|p.P113fs*>61(1)|p.G55fs*86(1)|p.A57fs*85(1)|p.A60A(1)|p.V28_V51del(1)|p.A60E(1)|p.R58fs*61(1)|p.E61G(1)|p.V59M(1)|p.V59_G67del(1)|p.V59G(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)		GAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCC	0.678	E61*(A375_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			18	32	---	---	---	---					
SMC5	23137	broad.mit.edu	37	9	72892225	72892225	+	Splice_Site	DEL	G	G	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:72892225delG	ENST00000361138.5	+	4	438		c.e4-1			NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						tttttaattaGGTTCAGGGCT	0.299													19	13	---	---	---	---					
SETX	23064	broad.mit.edu	37	9	135203954	135203958	+	Frame_Shift_Del	DEL	CACGG	CACGG	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr9:135203954_135203958delCACGG	ENST00000372169.2	-	10	3209_3213	c.3027_3031delCCGTG	c.(3025-3033)tcgafs	p.SRG1009fs	SETX_ENST00000224140.5_Frame_Shift_Del_p.SRG1009fs|SETX_ENST00000393220.1_Frame_Shift_Del_p.SRG1009fs			Q7Z333	SETX_HUMAN	senataxin	1009					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATAACCTGTCCACGGGAGGTATCTC	0.390													15	85	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13699134	13699142	+	In_Frame_Del	DEL	CGCCCCCCG	CGCCCCCCG	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr10:13699134_13699142delCGCCCCCCG	ENST00000357447.2	-	22	2815_2823	c.2447_2455delCGGGGGGCG	c.(2446-2457)ggt>g	p.AGGG816del	FRMD4A_ENST00000358621.4_In_Frame_Del_p.AGGG801del|FRMD4A_ENST00000378503.1_In_Frame_Del_p.AGGG816del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	816						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGTACACAccgccccccgcgccccccgc	0.761													5	7	---	---	---	---					
TAF6L	10629	broad.mit.edu	37	11	62550287	62550298	+	Splice_Site	DEL	TTGGCTGGAAGG	TTGGCTGGAAGG	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:62550287_62550298delTTGGCTGGAAGG	ENST00000294168.3	+	9	1151_1161	c.960_splice	c.e9+1	p.317_splice	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	317					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGCATGCTCTTGGCTGGAAGGTGAGCACCCT	0.533													7	50	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66260612	66260612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr11:66260612delC	ENST00000532677.1	+	11	1716	c.1315delC	c.(1315-1317)agfs	p.Q439fs	DPP3_ENST00000531863.1_Frame_Shift_Del_p.Q440fs|DPP3_ENST00000453114.1_Frame_Shift_Del_p.Q420fs|DPP3_ENST00000530165.1_Frame_Shift_Del_p.Q390fs|DPP3_ENST00000541961.1_Frame_Shift_Del_p.Q420fs|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Frame_Shift_Del_p.Q420fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	420					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTACGCCACGCAGCGGGAGAA	0.597													9	31	---	---	---	---					
TDRD3	81550	broad.mit.edu	37	13	61084023	61084040	+	In_Frame_Del	DEL	CAGAAACCTGTTATGGGT	CAGAAACCTGTTATGGGT	-	rs145444654		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr13:61084023_61084040delCAGAAACCTGTTATGGGT	ENST00000196169.3	+	9	1494_1511	c.706_723delCAGAAACCTGTTATGGGT	c.(706-723)del	p.QKPVMG236del	TDRD3_ENST00000377881.2_In_Frame_Del_p.QKPVMG236del|TDRD3_ENST00000377894.2_In_Frame_Del_p.QKPVMG236del|TDRD3_ENST00000535286.1_In_Frame_Del_p.QKPVMG329del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	236					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCAATAAACAGAAACCTGTTATGGGTCCTCCTCTGA	0.394													10	83	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													2	4	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3613464	3613464	+	RNA	DEL	G	G	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr16:3613464delG	ENST00000301749.7	-	0	1879				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAATGCGTGAGGAAGCCCAGC	0.637													4	2	---	---	---	---					
MYBBP1A	10514	broad.mit.edu	37	17	4446299	4446299	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:4446299delA	ENST00000254718.4	-	20	3107	c.2801delT	c.(2800-2802)tgfs	p.L934fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.L934fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	934					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GTTGCCCTTCAAGACCCGGAG	0.662													18	103	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16344166	16344167	+	RNA	INS	-	-	A	rs149284927		TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:16344166_16344167insA	ENST00000475953.1	+	0	483				C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA	NR_027667.1																						gactccatctcaaaaaaaaaaa	0.416													4	3	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													4	8	---	---	---	---					
ZNF221	7638	broad.mit.edu	37	19	44471164	44471171	+	Frame_Shift_Del	DEL	AAACCTTT	AAACCTTT	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr19:44471164_44471171delAAACCTTT	ENST00000251269.5	+	6	1838_1845	c.1510_1517delAAACCTTT	c.(1510-1518)cfs	p.KPF504fs	ZNF221_ENST00000587682.1_Frame_Shift_Del_p.KPF504fs|ZNF221_ENST00000592350.1_Frame_Shift_Del_p.KPF504fs	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAGTGGGGAAAAACCTTTCAAATGTGAA	0.447													15	49	---	---	---	---					
PES1	23481	broad.mit.edu	37	22	30973084	30973084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2M5-06A-12D-A197-08	TCGA-EE-A2M5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3869ff3f-21b9-4817-8ff4-83c6fc75ab11	3bf67116-be87-4c02-b931-352ebb7f3b48	g.chr22:30973084delG	ENST00000402281.1	-	17	2290	c.1299delC	c.(1297-1299)cafs	p.H433fs	PES1_ENST00000335214.6_Frame_Shift_Del_p.H567fs|PES1_ENST00000354694.6_Frame_Shift_Del_p.H572fs|PES1_ENST00000402284.3_Frame_Shift_Del_p.H555fs|PES1_ENST00000405677.1_Frame_Shift_Del_p.H433fs			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	572					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCGCCTCATCGTGGGCTTTCC	0.632													15	78	---	---	---	---					
