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
MTURN	222166	broad.mit.edu	37	7	30174858	30174858	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:30174858G>T	ENST00000324453.8	+	1	433	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	C7orf41_ENST00000415604.1_Missense_Mutation_p.D36Y|C7orf41_ENST00000409688.1_Missense_Mutation_p.D36Y	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN		36										NS(1)|large_intestine(2)	3						TTTCTACGCCGACCCCGGCGT	0.632000													10	12					2.17888e-05	2.27376e-05	0.058154	1	0
LRIG2	9860	broad.mit.edu	37	1	113652911	113652911	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:113652911G>T	ENST00000361127.4	+	13	1723	c.1525G>T	c.(1525-1527)Gct>Tct	p.A509S	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	509	Ig-like C2-type 1.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACCATAATTGCTCTAAGAGG	0.428000													63	110					3.13296e-38	4.36859e-38	0.139131	1	0
SLITRK4	139065	broad.mit.edu	37	X	142717687	142717687	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717687A>G	ENST00000381779.4	-	2	1463	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I413T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I413T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	413						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AATCACTGTAATTTGATTGCT	0.388000													131	25					0	0	0.139131	0	0
ZNF320	162967	broad.mit.edu	37	19	53384177	53384177	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53384177G>A	ENST00000595635.1	-	8	1703	c.1202C>T	c.(1201-1203)gCa>gTa	p.A401V	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A401V|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	401					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)		TTGATGACATGCGAGGTACGC	0.388000													61	114					0	0	0.139131	0	0
BSX	390259	broad.mit.edu	37	11	122850115	122850115	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:122850115C>A	ENST00000343035.2	-	2	361	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	105										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CAGTGCTTCCCCGGCAGCTCC	0.667000													31	14					4.02929e-09	4.35945e-09	0.153744	1	0
GRIA2	2891	broad.mit.edu	37	4	158262467	158262467	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:158262467C>T	ENST00000296526.7	+	12	2221	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	GRIA2_ENST00000393815.2_Silent_p.I585I|GRIA2_ENST00000507898.1_Silent_p.I585I|GRIA2_ENST00000264426.9_Silent_p.I632I|GRIA2_ENST00000449365.1_Silent_p.I585I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	632					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)	TTACCCTGATCATAATCTCCT	0.433000													154	58					0	0	0.139131	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207877	123207877	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123207877A>G	ENST00000264501.4	+	53	9592	c.9219A>G	c.(9217-9219)atA>atG	p.I3073M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.I3073M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I3073M			Q2LD37	K1109_HUMAN	KIAA1109	3073					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						TGTGGAGTATAGATGAACTGC	0.378000													66	23					0	0	0.139131	0	0
KDM4B	23030	broad.mit.edu	37	19	5134010	5134010	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:5134010G>T	ENST00000159111.4	+	14	2241	c.2023G>T	c.(2023-2025)Gca>Tca	p.A675S	KDM4B_ENST00000536461.1_Missense_Mutation_p.A709S	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	675					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAAGTTCAACGCAGCGGCTGC	0.667000													93	139					7.0407e-44	1.01681e-43	0.139131	1	0
FASN	2194	broad.mit.edu	37	17	80041269	80041269	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80041269G>A	ENST00000306749.2	-	32	5592	c.5374C>T	c.(5374-5376)Cac>Tac	p.H1792Y		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1792	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGGACCCCGTGGAATGTCACG	0.652000													35	48					0	0	0.203993	0	0
ZNF117	51351	broad.mit.edu	37	7	64439659	64439659	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:64439659T>G	ENST00000282869.5	-	4	1574	c.290A>C	c.(289-291)aAt>aCt	p.N97T		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTGTGTCTATTTGAATTTGA	0.279000													35	48					0	0	0.163468	0	0
ATP10B	23120	broad.mit.edu	37	5	160115002	160115002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:160115002G>A	ENST00000327245.5	-	5	926	c.80C>T	c.(79-81)aCc>aTc	p.T27I	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	27					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			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGTGTGGTTTCCGATGG	0.547000													63	29					0	0	0.139131	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55441888	55441888	+	Silent	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55441888A>C	ENST00000398661.2	-	2	317	c.186T>G	c.(184-186)gcT>gcG	p.A62A	HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000274901.4_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000358072.5_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	62							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			agtggatacaagccaccgtgc	0.438000													14	21					0	0	0.119110	0	0
OR5A2	219981	broad.mit.edu	37	11	59189575	59189575	+	Silent	SNP	G	G	T	rs150394868		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59189575G>T	ENST00000302040.4	-	1	874	c.852C>A	c.(850-852)ccC>ccA	p.P284P		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284P(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GATTCACCACGGGGATCACCA	0.473000													55	66					6.4308e-24	8.06343e-24	0.139131	1	0
SCRIB	23513	broad.mit.edu	37	8	144877207	144877207	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:144877207C>A	ENST00000356994.2	-	27	3853		c.e27+1		SCRIB_ENST00000377533.3_Splice_Site|SCRIB_ENST00000320476.3_Splice_Site	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein						activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGGGCACTCACCCTCTGCACG	0.682000													21	37					1.64113e-05	1.71815e-05	0.219247	1	0
AP5B1	91056	broad.mit.edu	37	11	65546371	65546371	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:65546371C>G	ENST00000532090.2	-	2	1803	c.1593G>C	c.(1591-1593)ccG>ccC	p.P531P		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	474							protein binding			lung(1)	1						CATCCCTGCCCGGCCTGGACA	0.607000													14	14					0	0	0.105934	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329715	88329715	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:88329715G>T	ENST00000325089.6	+	2	2291	c.2072G>T	c.(2071-2073)cGc>cTc	p.R691L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R450L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	691						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTCATGAAGCGCAGGAAGAAG	0.602000													25	18					1.55469e-16	1.78983e-16	0.083992	1	0
ZNF497	162968	broad.mit.edu	37	19	58868799	58868799	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58868799C>A	ENST00000311044.3	-	3	391	c.203G>T	c.(202-204)gGa>gTa	p.G68V	ZNF497_ENST00000425453.3_Missense_Mutation_p.G68V|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGGGGCCTCCCTGTTCGTC	0.746000													6	11					0.000442599	0.000456717	0.058154	1	0
NLRP12	91662	broad.mit.edu	37	19	54314439	54314439	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:54314439G>T	ENST00000324134.6	-	3	642	c.474C>A	c.(472-474)acC>acA	p.T158T	NLRP12_ENST00000351894.4_Silent_p.T158T|NLRP12_ENST00000354278.3_Silent_p.T158T|NLRP12_ENST00000345770.5_Silent_p.T158T|NLRP12_ENST00000391772.1_Silent_p.T158T|NLRP12_ENST00000391773.1_Silent_p.T158T|NLRP12_ENST00000391775.3_Silent_p.T158T|NLRP12_ENST00000535162.1_Silent_p.T158T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	158					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCAGGAGCCGGGTGTACCGGT	0.617000													93	128					8.64784e-51	1.28921e-50	0.139131	1	0
TTC8	123016	broad.mit.edu	37	14	89338730	89338730	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:89338730C>A	ENST00000338104.6	+	13	1381	c.1329C>A	c.(1327-1329)aaC>aaA	p.N443K	TTC8_ENST00000346301.4_Missense_Mutation_p.N387K|TTC8_ENST00000358622.5_Missense_Mutation_p.N229K|TTC8_ENST00000536576.1_Missense_Mutation_p.N188K|TTC8_ENST00000380656.2_Missense_Mutation_p.N427K|TTC8_ENST00000354441.6_Missense_Mutation_p.N162K|TTC8_ENST00000345383.5_Missense_Mutation_p.N417K			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	453					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGTCAACAACAACAACCACG	0.532000													63	18					1.12612e-26	1.43992e-26	0.139131	1	0
TRPM8	79054	broad.mit.edu	37	2	234904971	234904971	+	Splice_Site	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:234904971T>G	ENST00000324695.4	+	22	2981	c.2939_splice	c.e22-1	p.Y981_splice	TRPM8_ENST00000433712.2_Splice_Site_p.Y559_splice	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	981						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCACCAGCTACACGGTGGG	0.512000													45	74					0	0	0.139131	0	0
UBXN7	26043	broad.mit.edu	37	3	196098827	196098827	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:196098827G>A	ENST00000296328.4	-	6	629	c.555C>T	c.(553-555)cgC>cgT	p.R185R	UBXN7_ENST00000535858.1_Silent_p.R37R|UBXN7_ENST00000428095.1_Silent_p.R23R	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	185							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCCACACATCGCGGTTGAGGC	0.413000													91	333					0	0	0.139131	0	0
RECQL4	9401	broad.mit.edu	37	8	145739431	145739431	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:145739431G>T	ENST00000428558.2	-	12	1980	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	647	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCAGTGCGGCGTGTGGCT	0.672000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	4					1.23904e-05	1.30139e-05	0.184627	1	0
IGSF9B	22997	broad.mit.edu	37	11	133802070	133802070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:133802070C>G	ENST00000321016.8	-	8	1236	c.1006G>C	c.(1006-1008)Gtg>Ctg	p.V336L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V336L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	336	Ig-like 4.					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)		CCCACGGGCACGTAAATCACA	0.607000													8	2					0	0	0.058154	0	0
CENPF	1063	broad.mit.edu	37	1	214819347	214819347	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:214819347G>A	ENST00000366955.3	+	13	6602	c.6434G>A	c.(6433-6435)cGc>cAc	p.R2145H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2241	Interaction with NDE1 and NDEL1.				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)		CTGAAAGAACGCGAGCGGGAG	0.468000													94	13					0	0	0.139131	0	0
RYR2	6262	broad.mit.edu	37	1	237711878	237711878	+	Nonsense_Mutation	SNP	T	T	A	rs113422365		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237711878T>A	ENST00000366574.2	+	26	3371	c.3054T>A	c.(3052-3054)taT>taA	p.Y1018*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.Y1002*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.Y1016*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1018	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)			GCTGGACTTATGGCATCCAAC	0.428000													42	11					0	0	0.257332	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444432	25444432	+	RNA	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:25444432G>A	ENST00000424208.1	+	0	1705				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AGGAAGACTTGCATTGGGCCC	0.582000													8	19					0	0	0.038147	0	0
MMP12	4321	broad.mit.edu	37	11	102742585	102742585	+	RNA	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102742585T>A	ENST00000532855.1	-	0	544							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)	TTAATCTTGCTGAATTTCAAG	0.418000													30	2					0	0	0.134883	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032945	110032945	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:110032945G>A	ENST00000369870.3	+	9	1304	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	430										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTGTTTAGCCGCCGGCTGGAC	0.577000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	72					0	0	0.139131	0	0
MYH15	22989	broad.mit.edu	37	3	108159997	108159997	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:108159997C>T	ENST00000273353.3	-	24	2882	c.2826G>A	c.(2824-2826)gaG>gaA	p.E942E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	942						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						AATTTATCTCCTCTTCTTCCT	0.478000													83	256					0	0	0.139131	0	0
ATG2A	23130	broad.mit.edu	37	11	64668018	64668018	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:64668018T>C	ENST00000421419.2	-	31	4532	c.4418A>G	c.(4417-4419)cAg>cGg	p.Q1473R	ATG2A_ENST00000377264.3_Missense_Mutation_p.Q1471R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1471							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						GCTGCCCCCCTGCGTGCGCCA	0.642000													69	102					0	0	0.139131	0	0
HECTD3	79654	broad.mit.edu	37	1	45472642	45472642	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:45472642T>A	ENST00000372172.4	-	12	1673	c.1602A>T	c.(1600-1602)gcA>gcT	p.A534A	HECTD3_ENST00000372168.3_Silent_p.A144A	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	534	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGATGCCTTCTGCAATAAATT	0.507000													34	53					0	0	0.257332	0	0
COL6A3	1293	broad.mit.edu	37	2	238283363	238283363	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:238283363G>C	ENST00000295550.4	-	8	3823	c.3371C>G	c.(3370-3372)gCg>gGg	p.A1124G	COL6A3_ENST00000346358.4_Missense_Mutation_p.A924G|COL6A3_ENST00000347401.3_Missense_Mutation_p.A923G|COL6A3_ENST00000472056.1_Missense_Mutation_p.A517G|COL6A3_ENST00000409809.1_Missense_Mutation_p.A918G|COL6A3_ENST00000392003.2_Missense_Mutation_p.A717G|COL6A3_ENST00000392004.3_Missense_Mutation_p.A918G|COL6A3_ENST00000353578.4_Missense_Mutation_p.A918G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1124	Nonhelical region.|VWFA 6.				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)		CCTGCTTCCCGCAGAGCTGAC	0.647000													45	68					0	0	0.124865	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714792	92714792	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:92714792G>C	ENST00000257068.2	+	2	409	c.403G>C	c.(403-405)Gcc>Ccc	p.A135P		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	135					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CACTGCCATCGCCATTAACCG	0.597000													48	11					0	0	0.139131	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157206	65157206	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65157206G>C	ENST00000323544.4	+	6	720	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	198	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCAACCTCGGGAGACACCCCG	0.622000													59	149					0	0	0.139131	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129169	26129169	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:26129169T>A	ENST00000381655.2	+	13	1368	c.1226T>A	c.(1225-1227)aTg>aAg	p.M409K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.M369K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	369					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)		ACTCCTGCCATGGCCAGGACA	0.418000													61	19					0	0	0.139131	0	0
LAMA2	3908	broad.mit.edu	37	6	129775417	129775417	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:129775417C>A	ENST00000421865.2	+	47	6740	c.6691C>A	c.(6691-6693)Cgt>Agt	p.R2231S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2231	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATTGGTACCGTATCGTAGC	0.363000													47	46					2.81731e-22	3.44574e-22	0.139131	1	0
CPED1	79974	broad.mit.edu	37	7	120629907	120629907	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:120629907G>A	ENST00000310396.5	+	2	699	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	CPED1_ENST00000450913.2_Missense_Mutation_p.A78T|CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.A78T	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTCTGGTAATGCCCAGGAAAC	0.458000													60	98					0	0	0.139131	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352369	80352369	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80352369G>T	ENST00000329197.5	-	9	964	c.874C>A	c.(874-876)Ccg>Acg	p.P292T	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CTGGCTCTCGGTCCATTAACT	0.572000													81	62					1.78839e-46	2.62974e-46	0.139131	1	0
UNC13C	440279	broad.mit.edu	37	15	54307549	54307549	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307549C>A	ENST00000545554.1	+	1	2449	c.2449C>A	c.(2449-2451)Cag>Aag	p.Q817K	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q817K|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q817K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	817					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAAAGCACACAGAGTCTGAG	0.428000													33	45					1.60099e-16	1.83985e-16	0.214465	1	0
POLR2G	5436	broad.mit.edu	37	11	62533149	62533149	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:62533149G>T	ENST00000301788.7	+	6	529	c.424G>T	c.(424-426)Gag>Tag	p.E142*		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	142					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						GCAGGACGATGAGATCCGCTT	0.468000													67	100					3.41413e-29	4.45351e-29	0.139131	1	0
ITFG2	55846	broad.mit.edu	37	12	2929961	2929961	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:2929961G>A	ENST00000228799.2	+	6	757	c.618G>A	c.(616-618)gcG>gcA	p.A206A	ITFG2_ENST00000419778.2_Silent_p.A29A|ITFG2_ENST00000542548.1_Silent_p.A94A	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	206										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGGTTGTGCGTATGCAATTC	0.562000													38	63					0	0	0.235728	0	0
ZIC1	7545	broad.mit.edu	37	3	147128064	147128064	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:147128064G>C	ENST00000282928.4	+	1	894	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	55					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E55D(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTTCGCACGAGCTGGCTTCGG	0.711000													89	50					0	0	0.139131	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773407	137773407	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:137773407A>G	ENST00000242375.3	+	2	196	c.154A>G	c.(154-156)Att>Gtt	p.I52V	AKR1D1_ENST00000432161.1_Missense_Mutation_p.I52V|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.I52V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	52					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTACCGACATATTGATGGGGC	0.488000													32	41					0	0	0.153744	0	0
C1orf173	127254	broad.mit.edu	37	1	75037355	75037355	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:75037355C>A	ENST00000326665.5	-	14	4257	c.4039G>T	c.(4039-4041)Ggt>Tgt	p.G1347C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1347	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCGTTTCACCACCTCCGTGT	0.537000													44	66					2.14255e-21	2.57664e-21	0.139131	1	0
NSUN3	63899	broad.mit.edu	37	3	93783306	93783306	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783306T>A	ENST00000314622.4	+	2	249	c.38T>A	c.(37-39)cTt>cAt	p.L13H	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	13							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GAGGGGAAGCTTGCAAAACAG	0.363000													30	104					0	0	0.153744	0	0
OR2A25	392138	broad.mit.edu	37	7	143772005	143772005	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143772005G>C	ENST00000408898.2	+	1	731	c.693G>C	c.(691-693)gaG>gaC	p.E231D		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCAGGAGAGGGGTGCCAGA	0.483000													92	140					0	0	0.139131	0	0
TMEM8C	389827	broad.mit.edu	37	9	136380685	136380685	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:136380685G>A	ENST00000339996.3	-	4	545	c.444C>T	c.(442-444)agC>agT	p.S148S	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	148						integral to membrane		p.S148R(2)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GGGTGTAGACGCTCTTGTCTG	0.597000													47	68					0	0	0.139131	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630658	43630658	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:43630658G>A	ENST00000332857.6	-	1	72	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGCGTTTAGCGATGAGGCACT	0.488000													80	25					0	0	0.139131	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069249	6069249	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:6069249G>T	ENST00000381095.3	-	2	886	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.R87R|NLGN4X_ENST00000381092.1_Silent_p.R87R|NLGN4X_ENST00000275857.6_Silent_p.R87R|NLGN4X_ENST00000538097.1_Silent_p.R87R	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	87					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGCTGAAACCGCCTCTCTCCA	0.572000													75	12					6.20995e-33	8.30132e-33	0.139131	1	0
PHIP	55023	broad.mit.edu	37	6	79679576	79679576	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:79679576C>A	ENST00000275034.4	-	27	3348	c.3181G>T	c.(3181-3183)Gca>Tca	p.A1061S	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1061	Mediates interaction with IRS1 (By similarity).				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTGTATTTTGCATCATCAAAT	0.308000													21	37					3.10358e-05	3.23352e-05	0.249174	1	0
CAV1	857	broad.mit.edu	37	7	116164934	116164934	+	Translation_Start_Site	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:116164934A>T	ENST00000341049.2	+	0	96					NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa						blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			GGCGCAGCACACGTCCGGGCC	0.677000													12	14					0	0	0.093190	0	0
CDH7	1005	broad.mit.edu	37	18	63489364	63489364	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:63489364C>A	ENST00000536984.2	+	5	1367	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	CDH7_ENST00000397968.2_Missense_Mutation_p.Q225K|CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	225	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTAAAGACCAGTATTTGCT	0.403000													43	60					1.02591e-13	1.15437e-13	0.117977	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502556	90502556	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:90502556A>C	ENST00000325643.5	+	4	3220	c.3154A>C	c.(3154-3156)Agt>Cgt	p.S1052R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CTTGGGAGCCAGTGTGAGGGC	0.592000													64	121					0	0	0.139131	0	0
AC008268.2	0	broad.mit.edu	37	2	96458199	96458199	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:96458199G>T	ENST00000471661.1	+	0	217																											GTGGTCGTCAGGCTTTGGGAT	0.577000													8	36					6.40141e-05	6.64801e-05	0.080935	1	0
SSTR4	6754	broad.mit.edu	37	20	23016732	23016732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23016732C>A	ENST00000255008.3	+	1	676	c.612C>A	c.(610-612)caC>caA	p.H204Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	204					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGTGGCCACACCCGGCCTGGT	0.657000													37	107					1.00953e-15	1.15197e-15	0.131918	1	0
DCC	1630	broad.mit.edu	37	18	51013172	51013172	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:51013172G>C	ENST00000442544.2	+	26	4358	c.3742G>C	c.(3742-3744)Gtg>Ctg	p.V1248L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.V883L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488000													80	100					0	0	0.139131	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496764	20496764	+	RNA	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:20496764A>G	ENST00000555186.1	+	0	817					NR_038836.1																						TGTTTTTTATAGTGTGTATTT	0.358000													4	21					0	0	0.150653	0	0
REG1A	5967	broad.mit.edu	37	2	79348763	79348763	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:79348763G>T	ENST00000233735.1	+	3	243	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	47	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CGCTCCTACTGCTACTACTTT	0.542000													133	199					1.3892e-51	2.08059e-51	0.139131	1	0
ABCA9	10350	broad.mit.edu	37	17	67041454	67041454	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:67041454C>G	ENST00000340001.4	-	4	539	c.328G>C	c.(328-330)Gat>Cat	p.D110H	ABCA9_ENST00000453985.2_Missense_Mutation_p.D110H|ABCA9_ENST00000495634.1_Missense_Mutation_p.D110H|ABCA9_ENST00000370732.2_Missense_Mutation_p.D110H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	110					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)					CTTTTTTCATCAGGCCACCCC	0.378000													61	123					0	0	0.139131	0	0
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:164786619C>G	ENST00000264382.3	-	5	436	c.373_splice	c.e5-1	p.G125_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	125	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGCTTCAACTCCTTAAAGAAT	0.303000										HNSCC(35;0.089)			5	253					0	0	0.184627	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3664871	3664871	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:3664871C>T	ENST00000335312.3	-	3	256	c.168G>A	c.(166-168)aaG>aaA	p.K56K	PIP5K1C_ENST00000537021.1_Silent_p.K56K|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.K56K|PIP5K1C_ENST00000539785.1_Silent_p.K56K	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	56					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCAACTTCTTCCCATGGC	0.632000													90	121					0	0	0.139131	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260672	30260672	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:30260672C>T	ENST00000378982.2	+	1	616	c.420C>T	c.(418-420)agC>agT	p.S140S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	140	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGATCATCAGCAAAAAGTACA	0.473000													25	3					0	0	0.099896	0	0
CFAP221	200373	broad.mit.edu	37	2	120413946	120413946	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:120413946A>G	ENST00000602047.1	+	25	2677	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	PCDP1_ENST00000413369.3_Missense_Mutation_p.K808R			Q4G0U5	PCDP1_HUMAN		808						cilium	calmodulin binding					Colorectal(110;0.196)					AGAGAAGTGAAAGATCAAGCA	0.498000													30	47					0	0	0.134883	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71189914	71189914	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71189914C>G	ENST00000234396.4	+	9	866	c.793C>G	c.(793-795)Cgg>Ggg	p.R265G	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.R265G|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	265					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGGATCGAGCGGATCATCAC	0.582000													35	83					0	0	0.203993	0	0
TANC2	26115	broad.mit.edu	37	17	61489388	61489388	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61489388G>A	ENST00000424789.2	+	21	3577	c.3573G>A	c.(3571-3573)atG>atA	p.M1191I	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.M1191I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1191							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATGGGGCCATGATCGAGCACG	0.542000													43	41					0	0	0.257332	0	0
EOMES	8320	broad.mit.edu	37	3	27763724	27763724	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:27763724G>T	ENST00000295743.4	-	1	265	c.62C>A	c.(61-63)cCg>cAg	p.P21Q	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.P21Q|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	21					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACTCTCCAGCGGGTAGAAGTG	0.642000													6	2					0.00198382	0.00203412	0.248553	1	0
SEMA5A	9037	broad.mit.edu	37	5	9052125	9052125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:9052125C>T	ENST00000382496.5	-	20	3370	c.2705G>A	c.(2704-2706)tGg>tAg	p.W902*		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	902	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						CCAGTCCGACCACTCCGACCA	0.587000													16	46					0	0	0.132662	0	0
ATP8B4	79895	broad.mit.edu	37	15	50336882	50336882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50336882G>T	ENST00000284509.6	-	5	350	c.209C>A	c.(208-210)cCa>cAa	p.P70Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.P70Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	70					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)		GGAAATTTCTGGAATTAGCTG	0.353000													22	37					1.10513e-12	1.23492e-12	0.249174	1	0
RYR2	6262	broad.mit.edu	37	1	237778123	237778123	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237778123C>T	ENST00000366574.2	+	37	6012	c.5695C>T	c.(5695-5697)Cca>Tca	p.P1899S	RYR2_ENST00000542537.1_Missense_Mutation_p.P1883S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1897S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1899	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)			AATGAAACTGCCAGAGCCAGT	0.468000													63	9					0	0	0.139131	0	0
MUC17	140453	broad.mit.edu	37	7	100677017	100677017	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100677017A>T	ENST00000306151.4	+	3	2384	c.2320A>T	c.(2320-2322)Aca>Tca	p.T774S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	774	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)					TCCTCTTGACACAAGCACACA	0.468000													226	310					0	0	0.139131	0	0
LIMK1	3984	broad.mit.edu	37	7	73521389	73521389	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:73521389C>T	ENST00000418310.1	+	8	1123	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	LIMK1_ENST00000336180.2_Missense_Mutation_p.P311S|LIMK1_ENST00000538333.3_Missense_Mutation_p.P277S			P53667	LIMK1_HUMAN	LIM domain kinase 1	311	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACTGGGCTCCCCGGCCTCCCA	0.701000													13	16					0	0	0.093190	0	0
CSMD3	114788	broad.mit.edu	37	8	113277643	113277643	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:113277643T>C	ENST00000297405.5	-	60	9929	c.9685A>G	c.(9685-9687)Aga>Gga	p.R3229G	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3189G|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3159G|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3060G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3229	Sushi 24.					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						ATCATACCTCTACAAGTTGGC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			81	114					0	0	0.139131	0	0
CELA3B	23436	broad.mit.edu	37	1	22304901	22304901	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:22304901G>T	ENST00000337107.6	+	2	102	c.83G>T	c.(82-84)cGc>cTc	p.R28L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	28					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTTCCAGCCGCGTTGTCAAT	0.612000													42	23					6.27289e-28	8.13339e-28	0.139131	1	0
RAC1	5879	broad.mit.edu	37	7	6441558	6441558	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:6441558A>C	ENST00000348035.4	+	5	561	c.348A>C	c.(346-348)aaA>aaC	p.K116N	RAC1_ENST00000356142.4_Missense_Mutation_p.K135N|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)	116					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TGGGAACTAAACTTGATCTTA	0.493000													79	79					0	0	0.139131	0	0
COL4A4	1286	broad.mit.edu	37	2	227985813	227985813	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:227985813G>A	ENST00000396625.3	-	5	451	c.244C>T	c.(244-246)Cca>Tca	p.P82S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P82S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	82	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)		ATGGGTCCTGGGGCTCCCAGG	0.542000													59	72					0	0	0.139131	0	0
ABCC9	10060	broad.mit.edu	37	12	21965011	21965011	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:21965011C>A	ENST00000261200.4	-	34	4182	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	ABCC9_ENST00000345162.2_Missense_Mutation_p.D1359Y|ABCC9_ENST00000261201.4_Missense_Mutation_p.D1395Y	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1395	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTATTGGATCCTGCAGAATG	0.378000													52	113					1.12612e-26	1.43992e-26	0.139131	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132216	59132216	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59132216T>C	ENST00000313940.2	+	1	332	c.285T>C	c.(283-285)ttT>ttC	p.F95F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTATCACTTTTGTTGGTTGTA	0.423000													158	229					0	0	0.139131	0	0
CTNND2	1501	broad.mit.edu	37	5	11346684	11346684	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:11346684G>T	ENST00000304623.8	-	9	1617	c.1428C>A	c.(1426-1428)caC>caA	p.H476Q	CTNND2_ENST00000503622.1_Missense_Mutation_p.H139Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.H476Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.H385Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.H43Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	476					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						TCTGTGGGCCGTGCTGGCTGC	0.617000													46	98					3.68427e-32	4.88468e-32	0.117977	1	0
MAGEA6	4105	broad.mit.edu	37	X	151869846	151869846	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151869846C>G	ENST00000329342.5	+	3	761	c.536C>G	c.(535-537)gCc>gGc	p.A179G		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	179	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TACATCTTTGCCACCTGCCTG	0.527000													102	18					0	0	0.139131	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135878405	135878405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:135878405C>T	ENST00000264158.8	+	8	708	c.665C>T	c.(664-666)cCa>cTa	p.P222L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.P178L|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.P222L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	222						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCTTTAACTCCATTGCCTCCA	0.378000													93	138					0	0	0.139131	0	0
KIF1B	23095	broad.mit.edu	37	1	10386207	10386207	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:10386207C>T	ENST00000377086.1	+	27	2916	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	KIF1B_ENST00000377081.1_Missense_Mutation_p.A905V|KIF1B_ENST00000263934.6_Missense_Mutation_p.A859V			O60333	KIF1B_HUMAN	kinesin family member 1B	905					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)		GAGCGCCTTGCCGACCGCACA	0.542000													5	244					0	0	0.217242	0	0
FAT1	2195	broad.mit.edu	37	4	187630465	187630465	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:187630465C>G	ENST00000441802.2	-	2	726	c.517G>C	c.(517-519)Gcc>Ccc	p.A173P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	173	Cadherin 2.				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						GCATCCGTGGCGCTGACTCTT	0.438000										HNSCC(5;0.00058)			137	35					0	0	0.139131	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													3	76					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170062967	170062967	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:170062967G>A	ENST00000263816.3	-	39	7548	c.7263C>T	c.(7261-7263)gtC>gtT	p.V2421V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2421					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)	CTAGAGACATGACAGTTCTTT	0.413000													71	96					0	0	0.139131	0	0
ERMAP	114625	broad.mit.edu	37	1	43308691	43308691	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:43308691A>G	ENST00000328249.3	+	9	1984	c.946A>G	c.(946-948)Aca>Gca	p.T316A	RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.2_ENST00000416809.2_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.T406A|ERMAP_ENST00000372517.2_Missense_Mutation_p.T406A|RP11-342M1.3_ENST00000425076.1_RNA			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	406	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAAAAAACACAGCACCTCT	0.463000													62	115					0	0	0.139131	0	0
C20orf26	26074	broad.mit.edu	37	20	20177362	20177362	+	Missense_Mutation	SNP	G	G	T	rs115927004	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:20177362G>T	ENST00000245957.5	+	16	1815	c.1739G>T	c.(1738-1740)cGt>cTt	p.R580L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	580										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAGATCCTGCGTTTAGGCTTT	0.483000													120	187					5.01229e-73	7.68472e-73	0.139131	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58549383	58549383	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:58549383G>C	ENST00000282326.1	+	3	426	c.179G>C	c.(178-180)tGg>tCg	p.W60S	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.W60S|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.W60S	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	60	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W60*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCAGCTCTGGACGCTGTGC	0.711000													8	7					0	0	0.093190	0	0
ZFP42	132625	broad.mit.edu	37	4	188924029	188924029	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:188924029G>T	ENST00000326866.4	+	4	476	c.68G>T	c.(67-69)aGt>aTt	p.S23I	ZFP42_ENST00000509524.1_Missense_Mutation_p.S23I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	23					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGCCCCCAGTGGGGCTAAG	0.547000													50	15					3.21987e-24	4.04516e-24	0.139131	1	0
FILIP1L	11259	broad.mit.edu	37	3	99567165	99567165	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:99567165G>A	ENST00000331335.5	-	5	3825	c.3355C>T	c.(3355-3357)Cct>Tct	p.P1119S	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P879S|FILIP1L_ENST00000354552.3_Missense_Mutation_p.P1119S|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P879S|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P695S|CMSS1_ENST00000496116.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1119						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CGAGGAAGAGGTGTGGCTGTT	0.413000													75	258					0	0	0.139131	0	0
CTNND1	1500	broad.mit.edu	37	11	57569636	57569636	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57569636C>A	ENST00000524630.1	+	7	1901	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	CTNND1_ENST00000361391.6_Missense_Mutation_p.A463D|CTNND1_ENST00000358694.6_Missense_Mutation_p.A463D|CTNND1_ENST00000399050.4_Missense_Mutation_p.A463D|CTNND1_ENST00000525902.1_Missense_Mutation_p.A140D|CTNND1_ENST00000532463.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529919.1_Missense_Mutation_p.A463D|CTNND1_ENST00000361796.4_Missense_Mutation_p.A463D|CTNND1_ENST00000532245.1_Missense_Mutation_p.A362D|CTNND1_ENST00000532649.1_Missense_Mutation_p.A409D|CTNND1_ENST00000529873.1_Missense_Mutation_p.A409D|CTNND1_ENST00000360682.6_Missense_Mutation_p.A463D|CTNND1_ENST00000534579.1_Missense_Mutation_p.A409D|CTNND1_ENST00000533667.1_Missense_Mutation_p.A140D|CTNND1_ENST00000399039.4_Missense_Mutation_p.A463D|CTNND1_ENST00000531014.1_Missense_Mutation_p.A140D|CTNND1_ENST00000529526.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526357.1_Missense_Mutation_p.A409D|CTNND1_ENST00000528621.1_Missense_Mutation_p.A409D|CTNND1_ENST00000530094.1_Missense_Mutation_p.A362D|CTNND1_ENST00000530748.1_Missense_Mutation_p.A409D|CTNND1_ENST00000526938.1_Missense_Mutation_p.A463D|CTNND1_ENST00000526772.1_Missense_Mutation_p.A140D|CTNND1_ENST00000532787.1_Missense_Mutation_p.A362D|CTNND1_ENST00000428599.2_Missense_Mutation_p.A463D|CTNND1_ENST00000527467.1_Missense_Mutation_p.A140D|CTNND1_ENST00000426142.2_Missense_Mutation_p.A362D|CTNND1_ENST00000532844.1_Missense_Mutation_p.A409D|CTNND1_ENST00000415361.2_Missense_Mutation_p.A362D|CTNND1_ENST00000361332.4_Missense_Mutation_p.A463D|CTNND1_ENST00000528232.1_Missense_Mutation_p.A362D|CTNND1_ENST00000529986.1_Missense_Mutation_p.A362D			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	463					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTTCGAAAGGCTCGTGATATG	0.443000													160	294					2.83121e-50	4.21101e-50	0.139131	1	0
ACTR5	79913	broad.mit.edu	37	20	37395021	37395021	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:37395021G>A	ENST00000243903.4	+	7	1470		c.e7+1			NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)						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)				TTCTGGACAGGTGAGACAGCG	0.433000													362	140					0	0	0.139131	0	0
ABCC2	1244	broad.mit.edu	37	10	101591439	101591439	+	Silent	SNP	G	G	A	rs139082536	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101591439G>A	ENST00000370449.4	+	22	3068	c.2955G>A	c.(2953-2955)gcG>gcA	p.A985A		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	985	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.A985A(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCATCCTTGCGTTTGTGATGA	0.433000													6	181					0	0	0.248553	0	0
ARID4B	51742	broad.mit.edu	37	1	235345469	235345469	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:235345469T>G	ENST00000264183.3	-	20	3262	c.2765A>C	c.(2764-2766)aAa>aCa	p.K922T	ARID4B_ENST00000349213.3_Missense_Mutation_p.K836T|ARID4B_ENST00000366603.2_Missense_Mutation_p.K922T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCGATCTTTGGCCCTGCT	0.408000													191	31					0	0	0.139131	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018684	161018684	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:161018684A>G	ENST00000368013.3	-	12	2447	c.2127T>C	c.(2125-2127)agT>agC	p.S709S	ARHGAP30_ENST00000368015.1_Silent_p.S532S|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	709	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTCTTCCCTACTCCCTTCTC	0.527000													263	354					0	0	0.139131	0	0
ELAVL4	1996	broad.mit.edu	37	1	50659494	50659494	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:50659494G>A	ENST00000371824.1	+	4	669	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	ELAVL4_ENST00000357083.4_Missense_Mutation_p.G155S|ELAVL4_ENST00000448907.2_Missense_Mutation_p.G141S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.G138S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.G143S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.G138S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.G143S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	138	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CTATGTTAGCGGCCTTCCCAA	0.488000													105	140					0	0	0.139131	0	0
LAMB2	3913	broad.mit.edu	37	3	49161040	49161040	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49161040C>T	ENST00000418109.1	-	26	3986	c.3822G>A	c.(3820-3822)gaG>gaA	p.E1274E	LAMB2_ENST00000305544.4_Silent_p.E1274E	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1274	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGTCAGGTGCTCAGTGGCCT	0.557000													69	25					0	0	0.139131	0	0
MYH13	8735	broad.mit.edu	37	17	10265781	10265781	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10265781G>T	ENST00000418404.3	-	3	407	c.244C>A	c.(244-246)Cct>Act	p.P82T	MYH13_ENST00000252172.4_Missense_Mutation_p.P82T|MYH13_ENST00000570743.1_Missense_Mutation_p.P82T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	82	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTTGGGAGGGTTCATGGGG	0.478000													94	164					1.52783e-54	2.29884e-54	0.139131	1	0
ZNF292	23036	broad.mit.edu	37	6	87928449	87928449	+	Splice_Site	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:87928449G>C	ENST00000369577.3	+	4	581	c.538_splice	c.e4+1	p.V180_splice	ZNF292_ENST00000339907.4_Splice_Site_p.A180_splice|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAGGATAAAGGTAAATTTTC	0.328000													6	8					0	0	0.217242	0	0
CALN1	83698	broad.mit.edu	37	7	71571224	71571224	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:71571224C>T	ENST00000395275.2	-	4	688	c.300G>A	c.(298-300)aaG>aaA	p.K100K	CALN1_ENST00000405452.2_Silent_p.K58K|CALN1_ENST00000412588.1_Silent_p.K100K|CALN1_ENST00000431984.1_Silent_p.K58K|CALN1_ENST00000329008.5_Silent_p.K58K|CALN1_ENST00000395276.2_Silent_p.K58K	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	58	EF-hand 2.					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)				CCAGCTCCTGCTTGGAGATGA	0.567000													28	33					0	0	0.108266	0	0
A2M	2	broad.mit.edu	37	12	9262518	9262518	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:9262518C>T	ENST00000318602.7	-	6	925	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	206					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTCTGTACCACCACCTTGT	0.458000													127	186					0	0	0.139131	0	0
ZNF253	56242	broad.mit.edu	37	19	20002455	20002455	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:20002455C>G	ENST00000589717.1	+	4	491	c.399C>G	c.(397-399)aaC>aaG	p.N133K	ZNF253_ENST00000355650.4_Missense_Mutation_p.N57K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	133					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGACTTAACCAATGTTTGA	0.323000													28	66					0	0	0.125774	0	0
CPN2	1370	broad.mit.edu	37	3	194063363	194063363	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:194063363G>T	ENST00000323830.3	-	2	158	c.69C>A	c.(67-69)ccC>ccA	p.P23P	CPN2_ENST00000429275.1_Silent_p.P23P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	23	LRRNT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CACAACCCATGGGACAGGGCT	0.582000													237	88					6.35764e-115	9.84065e-115	0.139131	1	0
MPDZ	8777	broad.mit.edu	37	9	13196141	13196141	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:13196141C>T	ENST00000319217.7	-	13	1882	c.1635G>A	c.(1633-1635)atG>atA	p.M545I	MPDZ_ENST00000536827.1_Missense_Mutation_p.M545I|MPDZ_ENST00000546205.1_Missense_Mutation_p.M545I|MPDZ_ENST00000541718.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381022.2_Missense_Mutation_p.M545I|MPDZ_ENST00000447879.1_Missense_Mutation_p.M545I|MPDZ_ENST00000381015.4_Missense_Mutation_p.M545I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	545					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGTTAATTCCCATAATCCTTT	0.383000													11	3					0	0	0.080935	0	0
ROBO2	6092	broad.mit.edu	37	3	77666777	77666777	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:77666777G>A	ENST00000461745.1	+	22	4307	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.G1152D|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1136D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1136					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)		CCTGTTCGAGGCGTGGCTTCT	0.527000													85	21					0	0	0.139131	0	0
GATA3-AS1	399717	broad.mit.edu	37	10	8092959	8092959	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:8092959G>T	ENST00000355358.1	-	0	1667					NR_024256.1																						TGGCTCTGGTGGGTGGCCCGG	0.741000													12	3					5.16669e-11	5.70452e-11	0.080935	1	0
GPR128	84873	broad.mit.edu	37	3	100373869	100373869	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100373869C>A	ENST00000273352.3	+	12	1838	c.1570C>A	c.(1570-1572)Ccc>Acc	p.P524T	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.P229T	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	524					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATCCCGAATCCCATGTGCAC	0.423000													286	380					2.29708e-82	3.53019e-82	0.139131	1	0
SNHG14	104472715	broad.mit.edu	37	15	25415898	25415898	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:25415898C>A	ENST00000549301.1	+	0	327				SNHG14_ENST00000553149.1_RNA|SNORD115-1_ENST00000364961.1_RNA																							TTATATTATCCTGAAGAGAGG	0.537000													5	350					0.217242	0.218934	0.217242	1	0
ATM	472	broad.mit.edu	37	11	108213984	108213984	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:108213984A>G	ENST00000278616.4	+	57	8689	c.8304A>G	c.(8302-8304)gaA>gaG	p.E2768E	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Silent_p.E2768E	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2768	PI3K/PI4K.				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)		GTGTTCTTGAATGGTGCACAG	0.403000			"""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)			158	56					0	0	0.139131	0	0
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592000													4	26					0	0	0.150653	0	0
PGM1	5236	broad.mit.edu	37	1	64117492	64117492	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:64117492A>T	ENST00000371083.4	+	9	1855	c.1487A>T	c.(1486-1488)gAc>gTc	p.D496V	PGM1_ENST00000371084.3_Missense_Mutation_p.D478V|PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000540265.1_Missense_Mutation_p.D281V	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	478					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						GAATACAGCGACCCAGTGGAT	0.463000													21	53					0	0	0.249174	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829578	146829578	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:146829578T>A	ENST00000361727.3	+	8	1841	c.1325T>A	c.(1324-1326)aTg>aAg	p.M442K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	442	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGACCAAGATGAGCCAAATC	0.408000										HNSCC(39;0.1)			48	69					0	0	0.139131	0	0
USP13	8975	broad.mit.edu	37	3	179472519	179472519	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:179472519G>T	ENST00000263966.3	+	15	2269		c.e15-1		USP13_ENST00000496897.1_Splice_Site|USP13_ENST00000482333.1_Intron	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)						ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCATTTTGCAGATGTTTCTAT	0.448000													89	293					1.54307e-61	2.3491e-61	0.139131	1	0
ADAL	161823	broad.mit.edu	37	15	43627996	43627996	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:43627996G>A	ENST00000422466.2	+	5	740	c.166G>A	c.(166-168)Gac>Aac	p.D56N	ADAL_ENST00000389651.4_Missense_Mutation_p.D56N|ADAL_ENST00000562188.1_Missense_Mutation_p.D56N|ADAL_ENST00000428046.3_Missense_Mutation_p.D56N			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	56					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GACTGTGATTGACAAGGGAAA	0.378000													88	110					0	0	0.139131	0	0
GPR22	2845	broad.mit.edu	37	7	107115363	107115363	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:107115363T>A	ENST00000304402.4	+	3	2201	c.858T>A	c.(856-858)acT>acA	p.T286T	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	286						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTGTAAGAACTTCAGTTTCTG	0.408000													51	49					0	0	0.139131	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879404	94879404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:94879404G>T	ENST00000289495.5	+	8	2383	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E745*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E723*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E723*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	723	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAAAACATAGAAGAGAATAA	0.413000										HNSCC(28;0.073)			16	32					4.75885e-15	5.39225e-15	0.160694	1	0
PPIG	9360	broad.mit.edu	37	2	170462555	170462555	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:170462555A>G	ENST00000260970.3	+	5	363	c.143A>G	c.(142-144)aAg>aGg	p.K48R	PPIG_ENST00000462903.1_Missense_Mutation_p.K48R|PPIG_ENST00000409714.3_Missense_Mutation_p.K48R|PPIG_ENST00000448752.2_Missense_Mutation_p.K48R	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	48	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATAGGTGAAAAGGGGACCGGG	0.353000													3	137					0	0	0.150653	0	0
DNAH5	1767	broad.mit.edu	37	5	13752361	13752361	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13752361A>G	ENST00000265104.4	-	64	11014	c.10910T>C	c.(10909-10911)cTg>cCg	p.L3637P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3637	AAA 5 (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)					GCTGTCTTCCAGGTGGTTTCT	0.403000									Kartagener syndrome				69	147					0	0	0.139131	0	0
ROCK1	6093	broad.mit.edu	37	18	18535194	18535194	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:18535194G>C	ENST00000399799.1	-	30	4465	c.3525C>G	c.(3523-3525)caC>caG	p.H1175Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1175	Auto-inhibitory.|PH.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGGTCTAACGTGAAACAGTT	0.289000													14	23					0	0	0.160694	0	0
FOLH1	2346	broad.mit.edu	37	11	49197499	49197499	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49197499C>A	ENST00000340334.7	-	9	1254	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C	FOLH1_ENST00000256999.2_Missense_Mutation_p.G311C|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.G296C|FOLH1_ENST00000343844.4_Missense_Mutation_p.G3C|FOLH1_ENST00000356696.3_Missense_Mutation_p.G311C	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	311	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTGCTGAGCCACCCATTTTT	0.393000													62	88					8.52622e-23	1.05076e-22	0.139131	1	0
MBD5	55777	broad.mit.edu	37	2	149240960	149240960	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:149240960C>G	ENST00000407073.1	+	10	3797	c.2800C>G	c.(2800-2802)Cta>Gta	p.L934V	MBD5_ENST00000404807.1_Missense_Mutation_p.L934V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	934						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAGCATCTCCTAAACCAGAA	0.468000													116	219					0	0	0.139131	0	0
SHF	90525	broad.mit.edu	37	15	45460274	45460274	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:45460274C>G	ENST00000290894.8	-	8	1637	c.1143G>C	c.(1141-1143)gtG>gtC	p.V381V	SHF_ENST00000458022.2_Silent_p.V197V|SHF_ENST00000560540.1_3'UTR|SHF_ENST00000318390.6_Silent_p.V391V|SHF_ENST00000560734.1_3'UTR	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		TCTGGCCCAGCACATATTTGT	0.572000											OREG0023104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	44					0	0	0.204396	0	0
UNC5D	137970	broad.mit.edu	37	8	35588529	35588529	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:35588529G>A	ENST00000287272.2	+	10	1494		c.e10-1		UNC5D_ENST00000449677.1_Splice_Site|UNC5D_ENST00000453357.2_Splice_Site|UNC5D_ENST00000416672.1_Splice_Site|UNC5D_ENST00000420357.1_Splice_Site|UNC5D_ENST00000404895.2_Splice_Site			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)						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)		TTCTGTTTTAGGGGTGAGCTT	0.423000													40	41					0	0	0.246493	0	0
C1GALT1	56913	broad.mit.edu	37	7	7278431	7278431	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:7278431G>T	ENST00000436587.2	+	3	989	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	C1GALT1_ENST00000223122.2_Missense_Mutation_p.D256Y|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D256Y	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	256					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AGAAGCAGGAGATTCCAGAGA	0.368000													4	108					0.150653	0.152301	0.150653	1	0
AMPD1	270	broad.mit.edu	37	1	115231345	115231345	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:115231345G>T	ENST00000369538.3	-	2	186	c.139C>A	c.(139-141)Cgc>Agc	p.R47S	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18S|AMPD1_ENST00000520113.2_Missense_Mutation_p.R51S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	18					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCAAAGTTGCGCATTGCATCA	0.423000													68	138					4.66136e-34	6.28313e-34	0.139131	1	0
UGT2B4	7363	broad.mit.edu	37	4	70352383	70352383	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:70352383T>A	ENST00000305107.6	-	4	1080	c.1034A>T	c.(1033-1035)gAt>gTt	p.D345V	UGT2B4_ENST00000512583.1_Missense_Mutation_p.D345V|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D209V	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	345					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCCTAAAGTATCTGGTTTATT	0.348000													102	40					0	0	0.139131	0	0
MAP4K5	11183	broad.mit.edu	37	14	50912808	50912808	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:50912808G>A	ENST00000013125.4	-	17	1492	c.1174C>T	c.(1174-1176)Cta>Tta	p.L392L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	392					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)					TTAGGAGGTAGGGGAGGTGGT	0.279000													9	6					0	0	0.069234	0	0
NLRP5	126206	broad.mit.edu	37	19	56539566	56539566	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56539566C>A	ENST00000390649.3	+	7	1967	c.1967C>A	c.(1966-1968)cCc>cAc	p.P656H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	656						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGGCTGTCCCGTTCCCCTG	0.597000													77	113					5.21738e-30	6.83329e-30	0.139131	1	0
SLC15A3	51296	broad.mit.edu	37	11	60718768	60718768	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:60718768G>A	ENST00000227880.3	-	1	489	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	86					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						ACGGGCGCCAGCAGGTAGGAG	0.716000													4	4					0	0	0.150653	0	0
MGEA5	10724	broad.mit.edu	37	10	103558944	103558944	+	Silent	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:103558944A>C	ENST00000361464.3	-	9	1859	c.1464T>G	c.(1462-1464)gtT>gtG	p.V488V	MGEA5_ENST00000357797.5_Silent_p.V435V|MGEA5_ENST00000370094.3_Silent_p.V488V|MGEA5_ENST00000439817.1_Silent_p.V435V|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	488					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTTTCGCTTCAACAATTTCAC	0.393000													204	79					0	0	0.139131	0	0
RELN	5649	broad.mit.edu	37	7	103234159	103234159	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:103234159G>T	ENST00000424685.2	-	27	4041	c.3882C>A	c.(3880-3882)acC>acA	p.T1294T	RELN_ENST00000428762.1_Silent_p.T1294T|RELN_ENST00000343529.5_Silent_p.T1294T			P78509	RELN_HUMAN	reelin	1294					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)		CAGGTTTCAGGGTCAAATCTC	0.393000													83	153					1.55023e-36	2.14316e-36	0.139131	1	0
DNAH7	56171	broad.mit.edu	37	2	196659124	196659124	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:196659124T>A	ENST00000312428.6	-	57	10754	c.10654A>T	c.(10654-10656)Att>Ttt	p.I3552F	DNAH7_ENST00000409063.1_Missense_Mutation_p.I35F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3552	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATGATCGAATGATATTAGCC	0.453000													71	95					0	0	0.139131	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107832	26107832	+	Missense_Mutation	SNP	C	C	G	rs148167379		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:26107832C>G	ENST00000338379.4	-	1	532	c.490G>C	c.(490-492)Gtt>Ctt	p.V164L		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	164					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCGCTCCTAACAGTTTTAGGA	0.483000													155	229					0	0	0.139131	0	0
CNTN1	1272	broad.mit.edu	37	12	41422960	41422960	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:41422960T>A	ENST00000551295.2	+	23	3036	c.2919T>A	c.(2917-2919)gtT>gtA	p.V973V	CNTN1_ENST00000348761.2_Silent_p.V962V|CNTN1_ENST00000347616.1_Silent_p.V973V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	973	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGAATACGTTGTGGAGGTTC	0.448000													148	167					0	0	0.139131	0	0
C3P1	388503	broad.mit.edu	37	19	10169598	10169598	+	RNA	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:10169598G>A	ENST00000495140.1	+	0	1998																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTTGCCAACAGCTCCCAAGCC	0.562000													88	86					0	0	0.139131	0	0
NPHS1	4868	broad.mit.edu	37	19	36341873	36341873	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36341873G>A	ENST00000378910.5	-	4	515	c.516C>T	c.(514-516)acC>acT	p.T172T	NPHS1_ENST00000353632.6_Silent_p.T172T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	172	Ig-like C2-type 2.		Missing (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	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)			TCAGGAGAATGGTGATGTCAG	0.602000													21	28					0	0	0.249174	0	0
KRT73	319101	broad.mit.edu	37	12	53012037	53012037	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:53012037A>G	ENST00000305748.3	-	1	306	c.272T>C	c.(271-273)tTg>tCg	p.L91S		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	91	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGGACCCCAAGGCCACACT	0.627000													111	162					0	0	0.139131	0	0
CCDC85A	114800	broad.mit.edu	37	2	56602977	56602977	+	Silent	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:56602977T>A	ENST00000407595.2	+	5	1981	c.1479T>A	c.(1477-1479)gcT>gcA	p.A493A	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	493										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCAGGGGCTGATGGGAGTA	0.408000													49	57					0	0	0.139131	0	0
CLEC6A	93978	broad.mit.edu	37	12	8630046	8630046	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:8630046A>T	ENST00000382073.3	+	6	802	c.616A>T	c.(616-618)Aag>Tag	p.K206*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	206					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TGAGATGAATAAGATTTACCT	0.358000													47	77					0	0	0.124865	0	0
DNHD1	144132	broad.mit.edu	37	11	6592373	6592373	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:6592373G>A	ENST00000254579.6	+	42	14195	c.13631G>A	c.(13630-13632)gGt>gAt	p.G4544D	DNHD1_ENST00000527990.2_Missense_Mutation_p.G4544D	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4544					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCGCCGGCCGGTCCGCAGCCG	0.706000													12	3					0	0	0.146539	0	0
GTPBP4	23560	broad.mit.edu	37	10	1034450	1034450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:1034450G>T	ENST00000360803.4	+	1	113	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	11					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAAATTACGGTGGTGCCGTC	0.657000													20	5					6.44725e-10	7.03435e-10	0.249174	1	0
LRP3	4037	broad.mit.edu	37	19	33696633	33696633	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33696633C>T	ENST00000253193.7	+	5	1159	c.957C>T	c.(955-957)gaC>gaT	p.D319D		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	319	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCGCGGGGACCGCCTGCTGC	0.711000													6	11					0	0	0.217242	0	0
CUBN	8029	broad.mit.edu	37	10	17083215	17083215	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17083215A>C	ENST00000377833.4	-	27	3899	c.3834T>G	c.(3832-3834)tgT>tgG	p.C1278W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1278	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCACATTCTCACATGCTGGAA	0.343000													65	19					0	0	0.139131	0	0
TGM2	7052	broad.mit.edu	37	20	36775222	36775222	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:36775222C>A	ENST00000361475.2	-	6	929	c.756G>T	c.(754-756)atG>atT	p.M252I	TGM2_ENST00000536724.1_Missense_Mutation_p.M192I|TGM2_ENST00000536701.1_Missense_Mutation_p.M171I	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	252					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGATCCAGGACATGGGGCTGA	0.657000													75	62					1.3515e-34	1.83317e-34	0.139131	1	0
EDA2R	60401	broad.mit.edu	37	X	65824895	65824895	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:65824895C>T	ENST00000374719.3	-	3	317	c.261G>A	c.(259-261)ttG>ttA	p.L87L	EDA2R_ENST00000396050.1_Silent_p.L87L|EDA2R_ENST00000456230.2_Silent_p.L87L|EDA2R_ENST00000450752.1_Silent_p.L87L|EDA2R_ENST00000253392.5_Silent_p.L87L|EDA2R_ENST00000451436.2_Intron	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	87					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CTCACCTGGGCAAACAGTCCC	0.488000													10	2					0	0	0.069234	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22930714	22930714	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrY:22930714G>A	ENST00000288666.5	+	5	384	c.384G>A	c.(382-384)aaG>aaA	p.K128K		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	128					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						AAGTGAGGAAGATTACTGTGG	0.438000													49	8					0	0	0.139131	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122132	90122132	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:90122132C>A	ENST00000483379.1	+	0	531																											AATAGTTACCCTCCCACAGTG	0.517000													61	105					2.26907e-38	3.17081e-38	0.139131	1	0
RBP3	5949	broad.mit.edu	37	10	48388397	48388397	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:48388397G>T	ENST00000224600.4	-	1	2594	c.2481C>A	c.(2479-2481)ccC>ccA	p.P827P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	827	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)	CGGCGACCTGGGGCAAGGTCC	0.612000													14	8					7.93312e-07	8.41431e-07	0.119110	1	0
KCNT2	343450	broad.mit.edu	37	1	196285139	196285139	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:196285139C>G	ENST00000367433.5	-	20	2395	c.2294G>C	c.(2293-2295)aGg>aCg	p.R765T	KCNT2_ENST00000294725.8_Missense_Mutation_p.R789T|KCNT2_ENST00000367431.4_Missense_Mutation_p.R715T|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	789						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CACTCCACACCTGAGTAAGTC	0.393000													29	7					0	0	0.153744	0	0
GPA33	10223	broad.mit.edu	37	1	167024302	167024302	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167024302A>T	ENST00000367868.3	-	6	1081	c.738T>A	c.(736-738)gtT>gtA	p.V246V	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	246						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGAGGGCTGCAACCACGCCCA	0.577000													91	16					0	0	0.139131	0	0
UBR2	23304	broad.mit.edu	37	6	42637959	42637959	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:42637959G>T	ENST00000372899.1	+	35	4269	c.4011G>T	c.(4009-4011)gcG>gcT	p.A1337A	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Silent_p.A1337A	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1337					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)			GTAGCTGCGCGTACACCATCC	0.408000													69	91					2.26907e-38	3.17081e-38	0.139131	1	0
ZNF835	90485	broad.mit.edu	37	19	57176253	57176253	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57176253C>A	ENST00000537055.2	-	2	545	c.314G>T	c.(313-315)gGc>gTc	p.G105V		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CTTCTTGGGGCCTCCACCTCT	0.632000													26	43					7.01153e-11	7.72822e-11	0.125774	1	0
FLG	2312	broad.mit.edu	37	1	152280766	152280766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:152280766G>T	ENST00000368799.1	-	3	6631	c.6596C>A	c.(6595-6597)tCa>tAa	p.S2199*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2199	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)			GCCATCTCCTGATTGTTCCTT	0.542000									Ichthyosis				298	419					1.63887e-181	2.54892e-181	0.139131	1	0
NOL8	55035	broad.mit.edu	37	9	95077690	95077690	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95077690G>C	ENST00000545558.1	-	7	1709	c.1217C>G	c.(1216-1218)tCt>tGt	p.S406C	NOL8_ENST00000358855.4_Missense_Mutation_p.S338C|NOL8_ENST00000542053.1_Missense_Mutation_p.S338C|NOL8_ENST00000442668.2_Missense_Mutation_p.S406C|NOL8_ENST00000535387.1_Missense_Mutation_p.S406C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	406					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						TTTCTTCGTAGATTTTTCCAT	0.328000													17	17					0	0	0.146539	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609432	47609432	+	Splice_Site	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47609432A>C	ENST00000371891.3	+	6	666		c.e6-1		CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTCCCTCAGGAATTCTCA	0.512000													52	73					0	0	0.139131	0	0
PGM5P2	595135	broad.mit.edu	37	9	69127066	69127066	+	RNA	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:69127066G>C	ENST00000591037.1	-	0	492					NR_002836.2																						TGATCTTCCTGATAATGCAGG	0.443000													25	12					0	0	0.173368	0	0
ADAM2	2515	broad.mit.edu	37	8	39613295	39613295	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:39613295G>T	ENST00000265708.4	-	16	1852	c.1749C>A	c.(1747-1749)gaC>gaA	p.D583E	ADAM2_ENST00000347580.4_Missense_Mutation_p.D564E|ADAM2_ENST00000379853.2_Missense_Mutation_p.D427E|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	583	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCTTTTGGCTGTCTGCATGAT	0.348000													39	61					1.90571e-15	2.16315e-15	0.203993	1	0
PDCD10	11235	broad.mit.edu	37	3	167437849	167437849	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:167437849C>T	ENST00000392750.2	-	3	514		c.e3+1		PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000461494.1_Splice_Site|PDCD10_ENST00000473645.2_Splice_Site|PDCD10_ENST00000487947.2_Splice_Site|PDCD10_ENST00000470131.1_Splice_Site|PDCD10_ENST00000497056.2_Splice_Site|PDCD10_ENST00000471885.1_Splice_Site	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10						angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ACCCAACTCACCTCATTAAAC	0.378000													57	208					0	0	0.139131	0	0
GFRAL	389400	broad.mit.edu	37	6	55216213	55216213	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:55216213T>A	ENST00000340465.2	+	5	619	c.533T>A	c.(532-534)aTa>aAa	p.I178K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	178						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)			TATCAAAATATACCTTTTAAC	0.428000													164	222					0	0	0.139131	0	0
CREB5	9586	broad.mit.edu	37	7	28534558	28534558	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:28534558G>A	ENST00000357727.2	+	3	500	c.110G>A	c.(109-111)aGg>aAg	p.R37K	CREB5_ENST00000409603.1_Missense_Mutation_p.R4K|CREB5_ENST00000396299.2_Missense_Mutation_p.R4K|CREB5_ENST00000396300.2_Missense_Mutation_p.R30K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	37					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGATTCATAGGCACAAACAT	0.388000													77	128					0	0	0.139131	0	0
PAGE4	9506	broad.mit.edu	37	X	49597193	49597193	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:49597193G>T	ENST00000218068.6	+	4	311	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	PAGE4_ENST00000376141.1_Missense_Mutation_p.G78C	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	78												Ovarian(276;0.236)					GCGTGGAGATGGCTCTGATGT	0.388000													57	12					4.13886e-29	5.38801e-29	0.139131	1	0
MYH1	4619	broad.mit.edu	37	17	10408506	10408506	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:10408506C>A	ENST00000226207.5	-	21	2503	c.2409G>T	c.(2407-2409)gtG>gtT	p.V803V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	803	IQ.					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						TCTGGTACTCCACTCTTGCCA	0.433000													44	114					1.23713e-20	1.47407e-20	0.139131	1	0
MYH6	4624	broad.mit.edu	37	14	23866242	23866242	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:23866242C>T	ENST00000405093.3	-	18	2168	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MYH6_ENST00000356287.3_Missense_Mutation_p.V700M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	700	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCCAGCACGCCATTGCAG	0.617000													43	13					0	0	0.257332	0	0
DDX56	54606	broad.mit.edu	37	7	44608736	44608736	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:44608736C>A	ENST00000258772.5	-	10	1392	c.1286G>T	c.(1285-1287)cGc>cTc	p.R429L	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R389L	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	429					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CACCCTGCAGCGATAGCGGAA	0.627000													48	62					1.48341e-19	1.7546e-19	0.139131	1	0
CTDSP1	58190	broad.mit.edu	37	2	219267845	219267845	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:219267845G>A	ENST00000273062.2	+	5	802	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.A155T	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	156	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGCCTCGCCAAGGTGAG	0.642000													51	73					0	0	0.139131	0	0
BRI3	25798	broad.mit.edu	37	7	97920509	97920509	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:97920509C>T	ENST00000297290.3	+	3	453	c.332C>T	c.(331-333)gCc>gTc	p.A111V	BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Intron	NM_015379.4	NP_056194.1	O95415	BRI3_HUMAN	brain protein I3	111						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)	4	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)					TGCTGTTTTGCCTTGAGGAAG	0.542000													98	115					0	0	0.139131	0	0
MIR1324	100302212	broad.mit.edu	37	3	75679914	75679914	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:75679914C>A	ENST00000408868.1	+	0	1					NR_031714.1																						GGAGAACATTCCTGAAGAGGT	0.577000													10	68					1.49906e-05	1.57195e-05	0.119110	1	0
SLC20A2	6575	broad.mit.edu	37	8	42294989	42294989	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:42294989C>A	ENST00000342228.3	-	8	1410	c.1041G>T	c.(1039-1041)gtG>gtT	p.V347V	SLC20A2_ENST00000520262.1_Silent_p.V347V|SLC20A2_ENST00000520179.1_Silent_p.V347V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	347					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTCTTTGTGCACGGTGTGGT	0.592000													87	120					8.55712e-49	1.26692e-48	0.139131	1	0
MEOX1	4222	broad.mit.edu	37	17	41738516	41738516	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:41738516G>A	ENST00000549132.1	-	1	415	c.299C>T	c.(298-300)gCc>gTc	p.A100V	MEOX1_ENST00000318579.4_Silent_p.G129G|MEOX1_ENST00000393661.2_Silent_p.G14G|MEOX1_ENST00000329168.3_Silent_p.G129G			P50221	MEOX1_HUMAN	mesenchyme homeobox 1	14						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CATCGCCTGGGCCTCCTGTGG	0.627000													150	199					0	0	0.139131	0	0
OR11G2	390439	broad.mit.edu	37	14	20666109	20666109	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20666109C>A	ENST00000357366.3	+	1	615	c.615C>A	c.(613-615)tcC>tcA	p.S205S		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCAAATGTCCTTCTGTGGAT	0.443000													59	19					8.28887e-21	9.89464e-21	0.139131	1	0
RNF44	22838	broad.mit.edu	37	5	175956289	175956289	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:175956289C>A	ENST00000274811.4	-	10	1760	c.1236_splice	c.e10+1	p.K412_splice	RNF44_ENST00000537487.1_Splice_Site_p.K331_splice	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	412							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGTGTTACCTTCAACCACT	0.582000													43	17					1.32136e-16	1.52392e-16	0.268233	1	0
EXOC2	55770	broad.mit.edu	37	6	617752	617752	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:617752C>G	ENST00000230449.4	-	6	755	c.620G>C	c.(619-621)gGc>gCc	p.G207A	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	207					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACTGAGACCGCCTTTCACATA	0.517000													65	63					0	0	0.139131	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474049	110474049	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110474049T>A	ENST00000378402.5	+	48	7399	c.7295T>A	c.(7294-7296)aTa>aAa	p.I2432K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2432					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)			GGAGAAGAAATAGGAAGTGAC	0.393000										HNSCC(38;0.096)			13	16					0	0	0.093190	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237516	33237516	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:33237516G>A	ENST00000401073.2	+	6	2806	c.2736G>A	c.(2734-2736)ctG>ctA	p.L912L	KIAA1522_ENST00000373480.1_Silent_p.L853L|KIAA1522_ENST00000373481.3_Silent_p.L864L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	853	Pro-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)				AGAAACCACTGCGAAGGGCCC	0.716000													12	17					0	0	0.119110	0	0
PDE10A	10846	broad.mit.edu	37	6	165832247	165832247	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:165832247C>A	ENST00000366882.1	-	12	998	c.844G>T	c.(844-846)Gtg>Ttg	p.V282L	PDE10A_ENST00000539869.2_Missense_Mutation_p.V292L|PDE10A_ENST00000354448.4_Missense_Mutation_p.V282L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	282	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)	TCGGCATTCACCAGGTTTTTT	0.353000													25	45					4.59853e-10	5.03426e-10	0.108266	1	0
OR5M8	219484	broad.mit.edu	37	11	56258412	56258412	+	Silent	SNP	C	C	A	rs147351186		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56258412C>A	ENST00000327216.2	-	1	459	c.435G>T	c.(433-435)acG>acT	p.T145T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CATAAGGCACCGTGATGAGGA	0.517000													43	83					6.5261e-18	7.62164e-18	0.268233	1	0
DENND4A	10260	broad.mit.edu	37	15	65994823	65994823	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:65994823T>G	ENST00000443035.3	-	17	2465	c.2250A>C	c.(2248-2250)gcA>gcC	p.A750A	DENND4A_ENST00000431932.2_Silent_p.A750A	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTACCTCTTTGCAATTTTAT	0.373000													6	4					0	0	0.217242	0	0
LAMA1	284217	broad.mit.edu	37	18	7016587	7016587	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:7016587C>A	ENST00000389658.3	-	21	2985	c.2892G>T	c.(2890-2892)acG>acT	p.T964T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	964	Laminin EGF-like 10.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCTTCATCCGTGCAGCCAT	0.592000													27	19					1.74807e-11	1.94664e-11	0.153744	1	0
RUNDC3B	154661	broad.mit.edu	37	7	87329865	87329865	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:87329865G>A	ENST00000338056.3	+	4	829	c.418G>A	c.(418-420)Gct>Act	p.A140T	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A123T|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A123T	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	140	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCTTCTAGAGCTAAGGTAAG	0.383000													72	142					0	0	0.139131	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421637	50421637	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:50421637G>A	ENST00000435965.1	-	6	815	c.642C>T	c.(640-642)atC>atT	p.I214I	CACNA2D2_ENST00000479441.1_Silent_p.I214I|CACNA2D2_ENST00000429770.1_Silent_p.I214I|CACNA2D2_ENST00000424201.2_Silent_p.I214I|CACNA2D2_ENST00000423994.2_Silent_p.I214I|CACNA2D2_ENST00000395083.1_Silent_p.I214I|CACNA2D2_ENST00000360963.3_Silent_p.I145I|CACNA2D2_ENST00000266039.3_Silent_p.I214I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	214					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	AGCCTTTGTAGATGTCCGTAG	0.567000													219	70					0	0	0.139131	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147209	26147209	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:26147209G>T	ENST00000331351.5	+	2	1403	c.1011G>T	c.(1009-1011)gcG>gcT	p.A337A	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	337					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGATCTATGCGCTGCATCTGG	0.557000													138	44					1.36653e-54	2.06095e-54	0.139131	1	0
CTNNA3	29119	broad.mit.edu	37	10	69281617	69281617	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:69281617C>T	ENST00000433211.1	-	5	736	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	CTNNA3_ENST00000545309.1_Missense_Mutation_p.A188T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A188T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	188					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						CGTTTGAAGGCTAAATAATCC	0.478000													43	23					0	0	0.139131	0	0
C2orf88	84281	broad.mit.edu	37	2	191064816	191064816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:191064816G>A	ENST00000340623.4	+	2	641	c.230G>A	c.(229-231)tGg>tAg	p.W77*	C2orf88_ENST00000409870.1_Nonsense_Mutation_p.W77*|C2orf88_ENST00000443551.2_Nonsense_Mutation_p.W77*|C2orf88_ENST00000396974.2_Nonsense_Mutation_p.W77*	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	77										kidney(1)|large_intestine(1)|lung(1)	3						TTGCAGCAATGGGCATGCAAT	0.473000													130	204					0	0	0.139131	0	0
OR5J2	282775	broad.mit.edu	37	11	55944604	55944604	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55944604C>T	ENST00000312298.1	+	1	511	c.511C>T	c.(511-513)Cta>Tta	p.L171L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTTTTGTAGGCTAAATGCTGT	0.438000													73	114					0	0	0.139131	0	0
ESRRG	2104	broad.mit.edu	37	1	216850746	216850746	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:216850746G>A	ENST00000391890.3	-	4	592	c.75C>T	c.(73-75)tcC>tcT	p.S25S	ESRRG_ENST00000360012.3_Silent_p.S25S|ESRRG_ENST00000361525.3_Silent_p.S25S|ESRRG_ENST00000366937.1_Silent_p.S53S|ESRRG_ENST00000493748.1_Silent_p.S25S|ESRRG_ENST00000361395.2_Silent_p.S25S|ESRRG_ENST00000493603.1_Silent_p.S25S|ESRRG_ENST00000463665.1_Silent_p.S25S|ESRRG_ENST00000487276.1_Silent_p.S25S|ESRRG_ENST00000408911.3_Silent_p.S48S|ESRRG_ENST00000366938.2_Silent_p.S25S|ESRRG_ENST00000359162.2_Silent_p.S25S|ESRRG_ENST00000366940.2_Silent_p.S25S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	48					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTCCGTCAGGGAGGCTGGGC	0.537000													81	21					0	0	0.139131	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:35060934G>A	ENST00000373913.3	+	3	1294	c.814G>A	c.(814-816)Gca>Aca	p.A272T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A272T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A272T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A272T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	272	Poly-Pro.				cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCCCCGCCCGCACCCCCAGC	0.627000													10	19					0	0	0.069234	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791585	76791585	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:76791585C>A	ENST00000261183.3	-	8	1040	c.561G>T	c.(559-561)tgG>tgT	p.W187C	OSBPL8_ENST00000393249.2_Missense_Mutation_p.W145C|OSBPL8_ENST00000393250.4_Missense_Mutation_p.W145C	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	187	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGTTCCTACCCACTGACCAT	0.398000													48	71					1.00776e-21	1.21419e-21	0.139131	1	0
LRRN1	57633	broad.mit.edu	37	3	3886403	3886403	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:3886403C>A	ENST00000319331.3	+	2	839	c.78C>A	c.(76-78)tcC>tcA	p.S26S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	26	LRRNT.					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)		CCGAGTCTTCCATACAGAATA	0.463000													59	19					4.10029e-35	5.59681e-35	0.139131	1	0
MYH10	4628	broad.mit.edu	37	17	8526248	8526248	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:8526248T>C	ENST00000360416.3	-	2	455	c.317A>G	c.(316-318)aAg>aGg	p.K106R	MYH10_ENST00000269243.4_Missense_Mutation_p.K106R|MYH10_ENST00000396239.1_Missense_Mutation_p.K106R|MYH10_ENST00000379980.4_Missense_Mutation_p.K106R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	106	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTAGCGATCCTTCAGATTATG	0.343000													93	112					0	0	0.139131	0	0
CHRND	1144	broad.mit.edu	37	2	233394727	233394727	+	Missense_Mutation	SNP	G	G	T	rs146416320		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233394727G>T	ENST00000258385.3	+	7	730	c.698G>T	c.(697-699)cGc>cTc	p.R233L	CHRND_ENST00000536614.1_Silent_p.P196P|CHRND_ENST00000543200.1_Missense_Mutation_p.R218L|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	233					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R233H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGCCCCAGCCGCCAGGACATC	0.617000													56	103					4.32865e-36	5.97151e-36	0.139131	1	0
USP18	11274	broad.mit.edu	37	22	18643000	18643000	+	Missense_Mutation	SNP	C	C	A	rs138144879	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:18643000C>A	ENST00000215794.7	+	3	649	c.219C>A	c.(217-219)ttC>ttA	p.F73L		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	73					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TTCAGGTGTTCGTAATGAATG	0.418000													260	31					2.59669e-106	4.00969e-106	0.139131	1	0
GRIA3	2892	broad.mit.edu	37	X	122598930	122598930	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:122598930A>T	ENST00000264357.5	+	13	2583	c.2291A>T	c.(2290-2292)tAt>tTt	p.Y764F	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y764F|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y764F|GRIA3_ENST00000542149.1_Missense_Mutation_p.Y764F	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	764					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCAAAGGCTATGGTGTGGCA	0.428000													91	20					0	0	0.139131	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797883	131797883	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:131797883A>T	ENST00000392953.3	+	8	1493	c.974A>T	c.(973-975)cAg>cTg	p.Q325L	ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q254L|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q325L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q325L	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	325	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGCGAGGAGCAGCTGCGTACC	0.667000													14	24					0	0	0.119110	0	0
OPN3	23596	broad.mit.edu	37	1	241761198	241761198	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:241761198C>T	ENST00000366554.2	-	3	901	c.795G>A	c.(793-795)ctG>ctA	p.L265L	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.L186L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	265					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCAACAGACCAGGAAGGTGA	0.378000													101	23					0	0	0.139131	0	0
GLG1	2734	broad.mit.edu	37	16	74519693	74519693	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:74519693C>T	ENST00000422840.2	-	9	1571		c.e9+1		GLG1_ENST00000447066.2_Splice_Site|GLG1_ENST00000205061.5_Splice_Site	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1							Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGATAACTTACATTGGGTCTC	0.408000													68	23					0	0	0.139131	0	0
MN1	4330	broad.mit.edu	37	22	28194072	28194072	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:28194072G>A	ENST00000302326.4	-	1	3414	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	820							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCTGGCCGAACAGGTTGT	0.632000			T	ETV6	"""AML, meningioma"""								4	178					0	0	0.150653	0	0
DNAH5	1767	broad.mit.edu	37	5	13894843	13894843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13894843C>A	ENST00000265104.4	-	16	2451	c.2347G>T	c.(2347-2349)Gaa>Taa	p.E783*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	783	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)					TGGAGAGCTTCATCCACTTTG	0.423000									Kartagener syndrome				98	209					9.47431e-33	1.26389e-32	0.139131	1	0
GSTA3	2940	broad.mit.edu	37	6	52762651	52762651	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:52762651C>T	ENST00000211122.3	-	6	583	c.518G>A	c.(517-519)aGc>aAc	p.S173N	GSTA3_ENST00000370968.1_Missense_Mutation_p.S123N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	173	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GGAGATAAGGCTGGAGTCAAG	0.522000													77	128					0	0	0.139131	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709976	128709976	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:128709976C>G	ENST00000392665.2	-	2	307	c.163G>C	c.(163-165)Gac>Cac	p.D55H	KCNJ1_ENST00000324036.3_Missense_Mutation_p.D55H|KCNJ1_ENST00000440599.2_Missense_Mutation_p.D55H|KCNJ1_ENST00000392666.1_Missense_Mutation_p.D55H|KCNJ1_ENST00000392664.2_Missense_Mutation_p.D74H	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	74					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)	CACTTGAGGTCAAGTACCGTT	0.433000													103	49					0	0	0.139131	0	0
MAP6	4135	broad.mit.edu	37	11	75319187	75319187	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:75319187G>C	ENST00000434603.2	-	2	1150	c.1086C>G	c.(1084-1086)agC>agG	p.S362R	MAP6_ENST00000526740.1_Missense_Mutation_p.S33R|MAP6_ENST00000304771.3_Missense_Mutation_p.S362R	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	362	Calmodulin-binding (By similarity).					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CGCTGTAGAGGCTGCGTATTC	0.512000													56	25					0	0	0.139131	0	0
ATP10A	57194	broad.mit.edu	37	15	26026341	26026341	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:26026341C>A	ENST00000356865.6	-	2	590	c.479G>T	c.(478-480)tGg>tTg	p.W160L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	160					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)		GATTTCTTTCCAGAATCGGTT	0.498000													25	26					4.4004e-07	4.68266e-07	0.083992	1	0
FOXP1	27086	broad.mit.edu	37	3	71247394	71247394	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:71247394C>A	ENST00000318789.4	-	6	664	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	FOXP1_ENST00000498215.1_Missense_Mutation_p.G47W|FOXP1_ENST00000493089.1_Missense_Mutation_p.G47W|FOXP1_ENST00000484350.1_Missense_Mutation_p.G47W|FOXP1_ENST00000468577.1_Missense_Mutation_p.G47W|FOXP1_ENST00000318779.3_Missense_Mutation_p.G47W|FOXP1_ENST00000475937.1_Missense_Mutation_p.G47W	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	47					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TCAGCTGCCCCGATGTCCACG	0.627000			T	PAX5	ALL								85	38					5.00163e-47	7.38826e-47	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139642958	139642958	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139642958G>A	ENST00000303045.6	-	50	4089	c.3643C>T	c.(3643-3645)Cca>Tca	p.P1215S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1195S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1215	Collagen-like 11.|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)			TGGATTCCTGGTGGTCCAGCA	0.478000										HNSCC(7;0.00092)			150	202					0	0	0.139131	0	0
ABTB2	25841	broad.mit.edu	37	11	34219030	34219030	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:34219030C>T	ENST00000435224.2	-	3	1510	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Silent_p.P176P	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	176							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGCTGGCACCCGGGCACAGGG	0.672000													23	11					0	0	0.234183	0	0
MUC16	94025	broad.mit.edu	37	19	9026207	9026207	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9026207C>A	ENST00000397910.4	-	14	36982	c.36779G>T	c.(36778-36780)aGt>aTt	p.S12260I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12262	SEA 2.				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						CTGCAGGACACTCTCCATGGT	0.552000													143	192					6.37441e-58	9.68133e-58	0.139131	1	0
GPR112	139378	broad.mit.edu	37	X	135439903	135439903	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:135439903A>T	ENST00000394143.1	+	10	7259	c.6968A>T	c.(6967-6969)tAt>tTt	p.Y2323F	GPR112_ENST00000370652.1_Missense_Mutation_p.Y2323F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Missense_Mutation_p.Y2118F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y2118F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2323					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)					ACAATTTCCTATGTACCATAC	0.368000													147	35					0	0	0.139131	0	0
ABCC9	10060	broad.mit.edu	37	12	22028605	22028605	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:22028605T>C	ENST00000261200.4	-	15	2074	c.2075A>G	c.(2074-2076)gAt>gGt	p.D692G	ABCC9_ENST00000345162.2_Missense_Mutation_p.D656G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.D692G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATTCGAATATCTATATTGGA	0.308000													42	60					0	0	0.131918	0	0
VPS13B	157680	broad.mit.edu	37	8	100866327	100866327	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:100866327G>A	ENST00000358544.2	+	56	10896	c.10785G>A	c.(10783-10785)ttG>ttA	p.L3595L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3570L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3595					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)			CAGTAAATTTGCTCGTCAGCA	0.542000													39	46					0	0	0.139131	0	0
ASIC5	51802	broad.mit.edu	37	4	156764923	156764923	+	Missense_Mutation	SNP	G	G	C	rs145138118	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156764923G>C	ENST00000537611.2	-	5	817	c.771C>G	c.(769-771)atC>atG	p.I257M		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	257						integral to membrane|plasma membrane											TTGGTGAATGGATAACAAAGA	0.443000													43	19					0	0	0.268233	0	0
COL11A1	1301	broad.mit.edu	37	1	103496734	103496734	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496734T>C	ENST00000358392.2	-	5	1035	c.718A>G	c.(718-720)Agt>Ggt	p.S240G	COL11A1_ENST00000512756.1_Missense_Mutation_p.S240G|COL11A1_ENST00000353414.4_Missense_Mutation_p.S240G|COL11A1_ENST00000370096.3_Missense_Mutation_p.S240G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	240	Nonhelical 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)		CAGTCTGGACTATAATGCTCA	0.448000													22	38					0	0	0.234183	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61977990	61977990	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:61977990C>T	ENST00000244930.4	+	2	225	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	54						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GACAGTGATGCCGCTGCAGAG	0.428000													5	250					0	0	0.184627	0	0
GAD2	2572	broad.mit.edu	37	10	26512888	26512888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:26512888C>A	ENST00000376261.3	+	5	1096	c.593C>A	c.(592-594)tCa>tAa	p.S198*	GAD2_ENST00000376248.1_Nonsense_Mutation_p.S84*|GAD2_ENST00000259271.3_Nonsense_Mutation_p.S198*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	198					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TGGCTGACATCAACAGCAAAT	0.343000													40	13					6.97489e-18	8.13108e-18	0.214465	1	0
ZNF761	388561	broad.mit.edu	37	19	53959133	53959133	+	RNA	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53959133A>G	ENST00000454407.1	+	0	1825							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCCATCGTAGACGTCATAC	0.388000													76	104					0	0	0.139131	0	0
APOB	338	broad.mit.edu	37	2	21242655	21242655	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:21242655G>A	ENST00000233242.1	-	19	3066	c.2939C>T	c.(2938-2940)gCt>gTt	p.A980V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	980					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)	GTTGGAGTAAGCGCCTGAGGT	0.552000													32	33					0	0	0.134883	0	0
RP1	6101	broad.mit.edu	37	8	55540694	55540694	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:55540694G>T	ENST00000220676.1	+	4	4400	c.4252G>T	c.(4252-4254)Gat>Tat	p.D1418Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1418					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)			TAGTTCTCTAGATGATTTTGA	0.358000													50	93					1.61004e-24	2.02664e-24	0.139131	1	0
ATG2B	55102	broad.mit.edu	37	14	96777573	96777573	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:96777573T>A	ENST00000359933.4	-	28	4935	c.4042A>T	c.(4042-4044)Acg>Tcg	p.T1348S	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1348										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)		TCTGAGCACGTTCTGATATGG	0.448000													113	33					0	0	0.139131	0	0
STAB2	55576	broad.mit.edu	37	12	104054129	104054129	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:104054129A>T	ENST00000388887.2	+	16	1959	c.1755A>T	c.(1753-1755)gaA>gaT	p.E585D		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	585	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTCTGGAACTCGTCAGAT	0.438000													146	219					0	0	0.139131	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83371245	83371245	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83371245C>T	ENST00000262752.2	-	12	1007	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D334N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	334	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACATCCCAGTCAATATTTGCA	0.249000													28	2					0	0	0.153744	0	0
ZNF407	55628	broad.mit.edu	37	18	72344239	72344239	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:72344239G>T	ENST00000299687.5	+	1	1264	c.1264G>T	c.(1264-1266)Gtg>Ttg	p.V422L	ZNF407_ENST00000577538.1_Missense_Mutation_p.V422L|ZNF407_ENST00000582337.1_Missense_Mutation_p.V422L|ZNF407_ENST00000309902.6_Missense_Mutation_p.V422L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAATATTCTCGTGTTGGGTAA	0.433000													51	63					2.74695e-27	3.5404e-27	0.139131	1	0
CD247	919	broad.mit.edu	37	1	167408592	167408592	+	Nonsense_Mutation	SNP	G	G	A	rs74315290		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:167408592G>A	ENST00000392122.3	-	3	352	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Nonsense_Mutation_p.Q70*	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	70	ITAM 1.				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TTATAGAGCTGGTTCTGGCCC	0.637000													60	120					0	0	0.139131	0	0
CAPN10	11132	broad.mit.edu	37	2	241533429	241533429	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:241533429G>T	ENST00000391984.2	+	5	991	c.795G>T	c.(793-795)tgG>tgT	p.W265C	CAPN10_ENST00000391982.2_Missense_Mutation_p.W265C|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.W265C|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.W265C	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	265	Calpain catalytic.				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)		AGAACCCCTGGGGCCGGCGGT	0.692000													86	106					1.42954e-44	2.07846e-44	0.139131	1	0
PDZD2	23037	broad.mit.edu	37	5	31983279	31983279	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:31983279C>T	ENST00000438447.1	+	3	883	c.495C>T	c.(493-495)tgC>tgT	p.C165C	PDZD2_ENST00000282493.3_Silent_p.C165C			O15018	PDZD2_HUMAN	PDZ domain containing 2	165	PDZ 1.				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						CTGAGCAGTGCTGGAATGGCG	0.527000													49	151					0	0	0.139131	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644453	18644453	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:18644453T>G	ENST00000433979.1	+	19	2747	c.2631T>G	c.(2629-2631)ccT>ccG	p.P877P	PIK3C2G_ENST00000266497.5_Silent_p.P877P|PIK3C2G_ENST00000538779.1_Silent_p.P918P	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	877					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTCATCTTCCTCTGAACCCTG	0.333000													57	85					0	0	0.139131	0	0
CUX1	1523	broad.mit.edu	37	7	101837129	101837129	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:101837129A>T	ENST00000360264.3	+	13	1137	c.1117A>T	c.(1117-1119)Aag>Tag	p.K373*	CUX1_ENST00000556210.1_Nonsense_Mutation_p.K362*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.K357*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.K334*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.K371*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.K327*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.K362*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.K362*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Nonsense_Mutation_p.K373*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	362					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCATTCTGAAGTCCATGGA	0.527000													24	27					0	0	0.083992	0	0
NKD1	85407	broad.mit.edu	37	16	50667328	50667328	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50667328A>G	ENST00000268459.3	+	10	1273	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	350					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGGTCCCCCAAGGCCCAGGGC	0.662000													53	10					0	0	0.139131	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136777	80136777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:80136777G>T	ENST00000466387.1	+	11	1634	c.910G>T	c.(910-912)Gag>Tag	p.E304*	CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E304*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E338*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E304*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	304					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCCGTCCCTGGAGGAGAGGCT	0.592000													60	107					5.41189e-41	7.69559e-41	0.139131	1	0
NPAS3	64067	broad.mit.edu	37	14	34247672	34247672	+	Splice_Site	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:34247672G>C	ENST00000346562.2	+	8	1025	c.950_splice	c.e8-1	p.R317_splice	NPAS3_ENST00000357798.5_Splice_Site_p.R336_splice|NPAS3_ENST00000356141.4_Splice_Site_p.R349_splice|NPAS3_ENST00000551492.1_Splice_Site_p.R354_splice|NPAS3_ENST00000548645.1_Splice_Site_p.R319_splice	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CTCTTTGTAGGATTAGTGATT	0.403000													63	19					0	0	0.139131	0	0
WNK3	65267	broad.mit.edu	37	X	54359590	54359590	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:54359590C>A	ENST00000354646.2	-	2	955	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F	WNK3_ENST00000375169.3_Missense_Mutation_p.V173F|WNK3_ENST00000375159.2_Missense_Mutation_p.V173F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	173	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACCAAGCAACCTCAACCCAT	0.393000													83	22					3.16549e-35	4.32996e-35	0.139131	1	0
LRP1B	53353	broad.mit.edu	37	2	141460022	141460022	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:141460022G>A	ENST00000389484.3	-	38	7095	c.6124C>T	c.(6124-6126)Ccg>Tcg	p.P2042S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2042					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)		ATGCCATTCGGCCATGCTATT	0.433000										TSP Lung(27;0.18)			49	111					0	0	0.139131	0	0
FAT2	2196	broad.mit.edu	37	5	150924598	150924598	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:150924598C>T	ENST00000261800.5	-	9	6102	c.6090G>A	c.(6088-6090)cgG>cgA	p.R2030R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2030	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGCTCCCGGTCAAACG	0.512000													96	29					0	0	0.139131	0	0
PAIP2B	400961	broad.mit.edu	37	2	71429712	71429712	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:71429712C>A	ENST00000244221.8	-	2	174	c.8G>T	c.(7-9)gGa>gTa	p.G3V		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	3					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						CATATTGGATCCATTCATTAT	0.378000													78	87					1.25089e-41	1.78265e-41	0.139131	1	0
WEE2	494551	broad.mit.edu	37	7	141424933	141424933	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141424933C>A	ENST00000397541.2	+	9	1735	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	443	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGCACCATATCCGCAAGGGTA	0.493000													49	69					8.00217e-19	9.41346e-19	0.139131	1	0
DHRS7C	201140	broad.mit.edu	37	17	9683345	9683345	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:9683345G>T	ENST00000330255.4	-	3	290	c.278C>A	c.(277-279)aCc>aAc	p.T93N	DHRS7C_ENST00000571134.1_Missense_Mutation_p.T92N	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	93						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CAGCTTTGGGGTGAATGTCTG	0.507000													16	31					6.94344e-10	7.56298e-10	0.175082	1	0
MUC16	94025	broad.mit.edu	37	19	9072003	9072003	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9072003G>T	ENST00000397910.4	-	3	15646	c.15443C>A	c.(15442-15444)cCc>cAc	p.P5148H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5150	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						TGTGGCTTTGGGTGTCTCTGA	0.458000													132	167					5.80972e-51	8.68104e-51	0.139131	1	0
SLIT2	9353	broad.mit.edu	37	4	20543121	20543121	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20543121G>T	ENST00000504154.1	+	20	2274	c.2022G>T	c.(2020-2022)tgG>tgT	p.W674C	SLIT2_ENST00000503837.1_Missense_Mutation_p.W670C|SLIT2_ENST00000503823.1_Missense_Mutation_p.W666C|SLIT2_ENST00000273739.5_Missense_Mutation_p.W678C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	674	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACCTGGCTTGGTTGGGAGAGT	0.458000													46	11					1.10885e-35	1.52644e-35	0.139131	1	0
DNAH5	1767	broad.mit.edu	37	5	13841950	13841950	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:13841950C>G	ENST00000265104.4	-	33	5439	c.5335G>C	c.(5335-5337)Gtc>Ctc	p.V1779L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1779	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)					TCTGCCATGACAGGTTTATCC	0.383000									Kartagener syndrome				49	183					0	0	0.139131	0	0
ZNF169	169841	broad.mit.edu	37	9	97055405	97055405	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:97055405G>T	ENST00000481550.2	+	3	365	c.310G>T	c.(310-312)Ggt>Tgt	p.G104C	ZNF169_ENST00000375354.4_Intron|ZNF169_ENST00000480716.1_Intron|ZNF169_ENST00000395395.2_Intron|ZNF169_ENST00000340911.4_Intron			Q14929	ZN169_HUMAN	zinc finger protein 169	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GAGCTCAGCAGGTAAGGAAGG	0.572000													9	7					1.12685e-05	1.18548e-05	0.047766	1	0
TEX2	55852	broad.mit.edu	37	17	62291206	62291206	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:62291206T>C	ENST00000258991.3	-	2	456	c.372A>G	c.(370-372)gcA>gcG	p.A124A	TEX2_ENST00000583097.1_Silent_p.A124A|TEX2_ENST00000584379.1_Silent_p.A124A			Q8IWB9	TEX2_HUMAN	testis expressed 2	124					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTAATACTTGTGCTGCTGGAA	0.562000													107	118					0	0	0.139131	0	0
COL11A1	1301	broad.mit.edu	37	1	103548502	103548502	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103548502G>A	ENST00000358392.2	-	2	450	c.133C>T	c.(133-135)Cta>Tta	p.L45L	COL11A1_ENST00000512756.1_Silent_p.L45L|COL11A1_ENST00000353414.4_Silent_p.L45L|COL11A1_ENST00000370096.3_Silent_p.L45L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	45	TSP N-terminal.				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)		TGAAAATCTAGTGCTTTTAGT	0.333000													51	87					0	0	0.139131	0	0
DMD	1756	broad.mit.edu	37	X	31893375	31893375	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:31893375C>G	ENST00000357033.4	-	48	7234	c.7028G>C	c.(7027-7029)tGg>tCg	p.W2343S	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.W2339S|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2343			Missing (in DMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGAGATAACCACAGCAGCAG	0.368000													22	7					0	0	0.264190	0	0
TBR1	10716	broad.mit.edu	37	2	162273105	162273105	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:162273105C>G	ENST00000389554.3	+	1	501	c.184C>G	c.(184-186)Cag>Gag	p.Q62E		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493000													66	91					0	0	0.139131	0	0
SUSD1	64420	broad.mit.edu	37	9	114825256	114825256	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:114825256A>G	ENST00000374270.3	-	13	1983	c.1811T>C	c.(1810-1812)cTc>cCc	p.L604P	SUSD1_ENST00000374264.2_Missense_Mutation_p.L604P|SUSD1_ENST00000374263.3_Missense_Mutation_p.L604P	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	604						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCAGTCTGAGGCGTGGTAG	0.478000													3	234					0	0	0.115264	0	0
CENPT	80152	broad.mit.edu	37	16	67862385	67862385	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67862385C>T	ENST00000562787.1	-	15	2102	c.1554G>A	c.(1552-1554)ctG>ctA	p.L518L	CENPT_ENST00000440851.2_Silent_p.L518L|CENPT_ENST00000219172.3_Silent_p.L518L|CENPT_ENST00000564817.1_Silent_p.L463L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	518					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		ACCGCCGCATCAGCAGCTCCA	0.562000													109	31					0	0	0.139131	0	0
ZNF566	84924	broad.mit.edu	37	19	36964331	36964331	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:36964331T>C	ENST00000454319.1	-	3	173	c.39A>G	c.(37-39)gtA>gtG	p.V13V	ZNF566_ENST00000392170.2_Silent_p.V13V|ZNF566_ENST00000434377.2_Silent_p.V13V|ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Silent_p.V13V	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGAGAAGTCTACGGACACAT	0.388000													84	133					0	0	0.139131	0	0
ANGPT4	51378	broad.mit.edu	37	20	870932	870932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:870932G>C	ENST00000381922.3	-	2	491	c.389C>G	c.(388-390)cCc>cGc	p.P130R	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P130R	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	130					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTCTAGCATGGGGGCCGTCTG	0.607000													67	125					0	0	0.139131	0	0
C5orf38	153571	broad.mit.edu	37	5	2755285	2755285	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:2755285G>C	ENST00000397835.4	+	3	476	c.476G>C	c.(475-477)gGg>gCg	p.G159A	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	45						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		AGAAggccggggcgctcgccg	0.796000													15	27					0	0	0.146539	0	0
TCF7L2	6934	broad.mit.edu	37	10	114910775	114910775	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:114910775C>T	ENST00000355995.4	+	9	1401	c.894C>T	c.(892-894)gtC>gtT	p.V298V	TCF7L2_ENST00000543371.1_Silent_p.V298V|TCF7L2_ENST00000538897.1_Silent_p.V298V|TCF7L2_ENST00000536810.1_Silent_p.V298V|TCF7L2_ENST00000369389.1_Silent_p.V9V|TCF7L2_ENST00000355717.4_Silent_p.V322V|TCF7L2_ENST00000542695.1_Silent_p.V14V|TCF7L2_ENST00000352065.5_Silent_p.V275V|TCF7L2_ENST00000545257.1_Silent_p.V298V|TCF7L2_ENST00000534894.1_Silent_p.V298V|TCF7L2_ENST00000369397.4_Silent_p.V275V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	298	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)		CCCATATGGTCCCACCACATC	0.473000			T	VTI1A	colorectal								59	19					0	0	0.139131	0	0
NTSR2	23620	broad.mit.edu	37	2	11802345	11802345	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:11802345C>A	ENST00000306928.5	-	2	680	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	216					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)	AAGGGGAGCACGAAGGACACC	0.647000													99	146					1.90545e-35	2.61747e-35	0.139131	1	0
GABRA3	2556	broad.mit.edu	37	X	151514091	151514091	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:151514091A>G	ENST00000370314.4	-	3	462	c.224T>C	c.(223-225)cTg>cCg	p.L75P	GABRA3_ENST00000370311.1_Missense_Mutation_p.L75P|GABRA3_ENST00000535043.1_Missense_Mutation_p.L75P	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	75					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)	ATAGCCGTCCAGAAGACGATC	0.473000													67	14					0	0	0.139131	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833966	61833966	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:61833966C>A	ENST00000370339.3	-	4	1667	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.G392G	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	442	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AATGCCCACTCCCATTGACGC	0.607000													80	36					5.36554e-22	6.4888e-22	0.139131	1	0
SELP	6403	broad.mit.edu	37	1	169580850	169580850	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:169580850C>G	ENST00000263686.6	-	7	1064	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.A281P|SELP_ENST00000367793.2_Missense_Mutation_p.A281P|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367792.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	343	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TAGGCAAAAGCAGTGAGCGGA	0.532000													130	21					0	0	0.139131	0	0
MSN	4478	broad.mit.edu	37	X	64959590	64959590	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:64959590G>T	ENST00000360270.5	+	13	1741		c.e13-1		MSN_ENST00000486030.1_Splice_Site	NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin						leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CATCCTCACAGGCCCTCACTT	0.483000			T	ALK	ALCL								54	15					2.64514e-33	3.54328e-33	0.139131	1	0
DCC	1630	broad.mit.edu	37	18	50450086	50450086	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:50450086T>A	ENST00000442544.2	+	4	1323	c.707T>A	c.(706-708)cTg>cAg	p.L236Q	DCC_ENST00000412726.1_Missense_Mutation_p.L84Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	236	Ig-like C2-type 3.				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)		GATCCAGGACTGCATAGACAG	0.363000													39	97					0	0	0.225048	0	0
CEP250	11190	broad.mit.edu	37	20	34092279	34092279	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:34092279G>A	ENST00000397527.1	+	30	6802	c.6082G>A	c.(6082-6084)Gac>Aac	p.D2028N	CEP250_ENST00000342580.4_Missense_Mutation_p.D1972N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2028	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGAGATCCAGGACCAGGATCT	0.607000													6	26					0	0	0.217242	0	0
SNHG14	104472715	broad.mit.edu	37	15	25337141	25337141	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:25337141C>A	ENST00000546682.1	+	0	969				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CAAAGGGAGTCACAGGGCAGT	0.527000													19	15					2.35188e-11	2.61455e-11	0.175082	1	0
GALC	2581	broad.mit.edu	37	14	88411945	88411945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:88411945C>T	ENST00000261304.2	-	14	1728	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	GALC_ENST00000393568.4_Nonsense_Mutation_p.W518*|GALC_ENST00000544807.2_Nonsense_Mutation_p.W485*|GALC_ENST00000393569.2_Nonsense_Mutation_p.W515*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	541					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCGGCAGCCCATGTAATGGG	0.418000													57	21					0	0	0.139131	0	0
BLK	640	broad.mit.edu	37	8	11418850	11418850	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:11418850A>G	ENST00000259089.4	+	11	1661	c.1069A>G	c.(1069-1071)Atc>Gtc	p.I357V	BLK_ENST00000529894.1_Missense_Mutation_p.I286V	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	357	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATGAATTCCATCCACCGCGA	0.562000													25	25					0	0	0.099896	0	0
PARP8	79668	broad.mit.edu	37	5	50128662	50128662	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:50128662A>G	ENST00000281631.5	+	23	2439	c.2281A>G	c.(2281-2283)Agc>Ggc	p.S761G	PARP8_ENST00000514067.2_Missense_Mutation_p.S719G|PARP8_ENST00000503750.2_Missense_Mutation_p.S719G|PARP8_ENST00000514342.2_Missense_Mutation_p.S472G|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.S761G|PARP8_ENST00000505554.1_Missense_Mutation_p.S740G	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	761	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCCAGCTTCAAGCAGTAAAAG	0.438000													30	8					0	0	0.144211	0	0
RPS11P6	729258	broad.mit.edu	37	12	64790375	64790375	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:64790375G>T	ENST00000535684.1	+	0	896																											AGAGGGTACTGCTAAAGGAAA	0.463000													3	7					0.004672	0.0047678	0.115264	1	0
MMP10	4319	broad.mit.edu	37	11	102647451	102647451	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:102647451G>A	ENST00000279441.4	-	5	715	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	227					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTGGCTGAGTGAAAGAGCCCC	0.463000													61	22					0	0	0.139131	0	0
PTPRB	5787	broad.mit.edu	37	12	70928431	70928431	+	Splice_Site	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:70928431C>T	ENST00000334414.6	-	31	6249	c.6204_splice	c.e31-1	p.E2069_splice	PTPRB_ENST00000261266.5_Splice_Site_p.E1851_splice|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000451516.2_Splice_Site_p.E1761_splice|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Splice_Site_p.E1981_splice|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Splice_Site_p.E1761_splice|PTPRB_ENST00000538708.1_Splice_Site_p.E1761_splice	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1851					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)			AGCTGTTCCTCCTGTAAGAGC	0.493000													17	18					0	0	0.146539	0	0
CTTN	2017	broad.mit.edu	37	11	70281737	70281737	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:70281737G>C	ENST00000376561.3	+	18	1836	c.1665G>C	c.(1663-1665)agG>agC	p.R555S	CTTN_ENST00000301843.8_3'UTR|CTTN_ENST00000538675.1_Missense_Mutation_p.R276S|CTTN_ENST00000346329.3_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGCTGGGGAGGAGAGGACTGG	0.597000													10	274					0	0	0.058154	0	0
CNBD1	168975	broad.mit.edu	37	8	88363948	88363948	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:88363948G>T	ENST00000518476.1	+	9	1129	c.1078G>T	c.(1078-1080)Ggt>Tgt	p.G360C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	360										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCTTTTGTGGGTTATATTAA	0.264000													5	8					2.7689e-08	2.97587e-08	0.248553	1	0
OR8K5	219453	broad.mit.edu	37	11	55927730	55927730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:55927730C>T	ENST00000313447.1	-	1	63	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATCTGCAGCTCAGGCCGCCTT	0.453000													75	120					0	0	0.139131	0	0
NOX1	27035	broad.mit.edu	37	X	100117442	100117442	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:100117442A>G	ENST00000372966.3	-	6	815	c.610T>C	c.(610-612)Ttc>Ctc	p.F204L	NOX1_ENST00000217885.5_Missense_Mutation_p.F204L|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F167L	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	204	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTATACCAGAAGACTTCAAAA	0.463000													218	48					0	0	0.139131	0	0
PLCL2	23228	broad.mit.edu	37	3	17056221	17056221	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:17056221G>A	ENST00000418129.2	+	3	2923	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	PLCL2_ENST00000432376.1_Missense_Mutation_p.E820K|PLCL2_ENST00000396755.2_Missense_Mutation_p.E820K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	946	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTCATTCAAGGAGCTGTGTGG	0.463000													173	43					0	0	0.139131	0	0
MRC2	9902	broad.mit.edu	37	17	60755933	60755933	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:60755933G>T	ENST00000303375.5	+	13	2523	c.2121G>T	c.(2119-2121)ctG>ctT	p.L707L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	707	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						GCCAGGAGCTGGGGGCCCAGC	0.627000													20	31					3.01185e-09	3.26957e-09	0.091800	1	0
ANO4	121601	broad.mit.edu	37	12	101295504	101295504	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:101295504C>A	ENST00000538618.1	+	4	439	c.439C>A	c.(439-441)Cgt>Agt	p.R147S	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						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						CCCAGCGTCACGTCGTCGCCT	0.498000										HNSCC(74;0.22)			49	79					8.86878e-18	1.03203e-17	0.139131	1	0
TLR4	7099	broad.mit.edu	37	9	120476539	120476539	+	Missense_Mutation	SNP	C	C	A	rs56225594		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:120476539C>A	ENST00000355622.6	+	3	2234	c.2133C>A	c.(2131-2133)gaC>gaA	p.D711E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D671E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	711	TIR.				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						ACTACAGAGACTTTATTCCCG	0.473000													68	85					2.19297e-23	2.7181e-23	0.139131	1	0
HOXC13	3229	broad.mit.edu	37	12	54338804	54338804	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:54338804G>A	ENST00000243056.3	+	2	913	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	253						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCTGCAGCCCGAGGTGAGCAG	0.607000			T	NUP98	AML								148	213					0	0	0.139131	0	0
MIR521-1	574494	broad.mit.edu	37	19	54251955	54251955	+	RNA	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:54251955T>A	ENST00000384902.1	+	0	66					NR_030216.1																						CGCACTTCCCTTTAGAGTGTT	0.448000													52	84					0	0	0.139131	0	0
TRPM7	54822	broad.mit.edu	37	15	50929755	50929755	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:50929755C>A	ENST00000313478.7	-	7	977	c.696G>T	c.(694-696)ctG>ctT	p.L232L	TRPM7_ENST00000560955.1_Silent_p.L232L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	232					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCAATTTGCTCAGGGGGTTCA	0.373000													57	57					1.54886e-18	1.81872e-18	0.139131	1	0
THEMIS	387357	broad.mit.edu	37	6	128040968	128040968	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:128040968G>T	ENST00000368250.1	-	6	2020	c.1521_splice	c.e6-1	p.R508_splice	THEMIS_ENST00000543064.1_Splice_Site_p.R626_splice|THEMIS_ENST00000368248.2_Splice_Site_p.R587_splice|THEMIS_ENST00000537166.1_Splice_Site_p.R552_splice			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	587	CABIT 2.				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						ACGTGATGACGCTGAAATGAC	0.368000													74	81					2.51111e-31	3.31568e-31	0.139131	1	0
ATP6V0A2	23545	broad.mit.edu	37	12	124221737	124221737	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:124221737G>T	ENST00000330342.3	+	9	1205	c.957G>T	c.(955-957)gtG>gtT	p.V319V		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	319					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GCTTTGACGTGACCAACAAGT	0.562000													51	68					6.17242e-35	8.40748e-35	0.139131	1	0
CDCA3	83461	broad.mit.edu	37	12	6958258	6958258	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:6958258T>C	ENST00000538862.2	-	6	1657	c.756A>G	c.(754-756)caA>caG	p.Q252Q	CDCA3_ENST00000535406.1_Silent_p.Q252Q|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000229265.6_Silent_p.Q227Q|CDCA3_ENST00000540683.1_3'UTR			Q99618	CDCA3_HUMAN	cell division cycle associated 3	252					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GGTCCTGGCCTTGCTCCCATG	0.532000													50	52					0	0	0.139131	0	0
AVIL	10677	broad.mit.edu	37	12	58197112	58197112	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:58197112T>G	ENST00000537081.1	-	15	1858	c.1859A>C	c.(1858-1860)cAa>cCa	p.Q620P	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.Q627P|AVIL_ENST00000550083.1_5'UTR			O75366	AVIL_HUMAN	advillin	627	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)					GACAACGAATTGGCCGGTCTT	0.478000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	139	214					0	0	0.139131	0	0
ERBB4	2066	broad.mit.edu	37	2	212288906	212288906	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:212288906A>G	ENST00000342788.4	-	23	3150	c.2840T>C	c.(2839-2841)aTt>aCt	p.I947T	ERBB4_ENST00000402597.1_Missense_Mutation_p.I937T|ERBB4_ENST00000436443.1_Missense_Mutation_p.I947T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	947	Protein kinase.				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			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)		GTAAACGTCAATAGTGCAGAT	0.388000										TSP Lung(8;0.080)			70	105					0	0	0.139131	0	0
NNMT	4837	broad.mit.edu	37	11	114168790	114168790	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:114168790T>A	ENST00000535401.1	+	4	536	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.L91Q|NNMT_ENST00000541754.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	91					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GACCAGAACCTGCAGGAGCTG	0.517000													73	24					0	0	0.139131	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117785164	117785164	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:117785164C>T	ENST00000528626.1	-	3	590	c.517G>A	c.(517-519)Gct>Act	p.A173T	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A208T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A208T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A208T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	203					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CAGCGAACAGCGTGCTTGGGA	0.617000													205	77					0	0	0.139131	0	0
TPTE2	93492	broad.mit.edu	37	13	20039644	20039644	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:20039644A>T	ENST00000400230.2	-	8	617	c.573T>A	c.(571-573)ctT>ctA	p.L191L	TPTE2_ENST00000382977.4_Silent_p.L191L|TPTE2_ENST00000390680.2_Silent_p.L114L|TPTE2_ENST00000382978.1_Silent_p.L151L|TPTE2_ENST00000400103.2_Silent_p.L80L|TPTE2_ENST00000255310.6_Silent_p.L114L|TPTE2_ENST00000382975.4_Silent_p.L151L|TPTE2_ENST00000457266.2_Silent_p.L80L			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	191						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTTTTTGATGAAGCAGATGAA	0.333000													28	11					0	0	0.116897	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37584249	37584249	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:37584249T>C	ENST00000337843.2	-	1	80	c.5A>G	c.(4-6)cAg>cGg	p.Q2R	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Q2R	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	0			G -> V (in dbSNP:rs229527).			collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTGAGCCACTGCATGGCCTC	0.637000													123	20					0	0	0.139131	0	0
CHSY3	337876	broad.mit.edu	37	5	129520379	129520379	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:129520379G>T	ENST00000305031.4	+	3	1902	c.1544G>T	c.(1543-1545)cGg>cTg	p.R515L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	515						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGCAGAGGACGGCTCATTGAC	0.468000													36	12					1.58521e-26	2.02294e-26	0.225048	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803593	142803593	+	RNA	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:142803593T>A	ENST00000423385.1	-	0	1372																											AAAATTATGTTAACTAAGAAA	0.284000													7	142					0	0	0.038147	0	0
FAM194A	131831	broad.mit.edu	37	3	150400034	150400034	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:150400034C>A	ENST00000295910.6	-	7	905	c.853G>T	c.(853-855)Gtg>Ttg	p.V285L	FAM194A_ENST00000491361.1_Missense_Mutation_p.V139L	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	285										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAACATCCACATTAGAAAAA	0.358000													88	123					2.01383e-38	2.82635e-38	0.139131	1	0
PTPRN2	5799	broad.mit.edu	37	7	157985038	157985038	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:157985038T>C	ENST00000389413.3	-	5	633	c.530A>G	c.(529-531)cAg>cGg	p.Q177R	PTPRN2_ENST00000389418.4_Missense_Mutation_p.Q177R|PTPRN2_ENST00000404321.2_Missense_Mutation_p.Q200R|PTPRN2_ENST00000389416.4_Missense_Mutation_p.Q160R|PTPRN2_ENST00000409483.1_Missense_Mutation_p.Q139R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	177						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)		GGGTCTGTCCTGCGCCGTATG	0.677000													25	35					0	0	0.099896	0	0
GPR128	84873	broad.mit.edu	37	3	100349615	100349615	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:100349615G>T	ENST00000273352.3	+	3	564	c.296G>T	c.(295-297)gGa>gTa	p.G99V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	99					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGATATGGACCATCCTTG	0.348000													88	107					5.34484e-38	7.4368e-38	0.139131	1	0
FAM47C	442444	broad.mit.edu	37	X	37027498	37027498	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:37027498G>T	ENST00000358047.3	+	1	1067	c.1015G>T	c.(1015-1017)Gtg>Ttg	p.V339L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	339										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						CAAGACTCTGGTGTCCAGTCT	0.622000													88	22					1.07111e-62	1.63445e-62	0.139131	1	0
F13B	2165	broad.mit.edu	37	1	197031010	197031010	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:197031010C>A	ENST00000367412.1	-	3	398	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403000													46	18					4.44401e-20	5.27574e-20	0.117977	1	0
COL14A1	7373	broad.mit.edu	37	8	121240971	121240971	+	Silent	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:121240971A>T	ENST00000297848.3	+	18	2430	c.2160A>T	c.(2158-2160)ccA>ccT	p.P720P	COL14A1_ENST00000247781.3_Silent_p.P625P|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.P720P|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	720					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)			GGACAGAACCAGCTACAACCA	0.328000													62	91					0	0	0.139131	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136241	40136241	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:40136241C>A	ENST00000278198.2	-	2	3565	c.1602G>T	c.(1600-1602)gtG>gtT	p.V534V	LRRC4C_ENST00000528697.1_Silent_p.V534V|LRRC4C_ENST00000527150.1_Silent_p.V534V|LRRC4C_ENST00000530763.1_Silent_p.V534V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	534					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGTGATGGCCACAAAACACC	0.463000													61	16					1.74971e-23	2.17704e-23	0.139131	1	0
LPHN2	23266	broad.mit.edu	37	1	82445578	82445578	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82445578C>A	ENST00000370728.1	+	20	3680	c.3035C>A	c.(3034-3036)aCa>aAa	p.T1012K	LPHN2_ENST00000370715.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370713.1_Missense_Mutation_p.T999K|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1012K|LPHN2_ENST00000394879.1_Missense_Mutation_p.T999K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1012K|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1012K|LPHN2_ENST00000370721.1_Missense_Mutation_p.T937K|LPHN2_ENST00000359929.3_Missense_Mutation_p.T999K|LPHN2_ENST00000370723.1_Missense_Mutation_p.T999K|LPHN2_ENST00000319517.6_Missense_Mutation_p.T999K|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1012K			O95490	LPHN2_HUMAN	latrophilin 2	1012					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)		TTGGTGATCACATTGTGCAAA	0.299000													31	62					2.05212e-20	2.44066e-20	0.225048	1	0
SNX14	57231	broad.mit.edu	37	6	86235871	86235871	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:86235871C>T	ENST00000314673.3	-	21	2256	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Missense_Mutation_p.D641N|SNX14_ENST00000505648.1_Missense_Mutation_p.D642N|SNX14_ENST00000369627.2_Missense_Mutation_p.D685N|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	694					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AGTATCTTATCAAGAAATTGT	0.323000													12	24					0	0	0.093190	0	0
OR8B4	283162	broad.mit.edu	37	11	124294721	124294721	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:124294721C>A	ENST00000356130.3	-	1	68	c.47G>T	c.(46-48)gGa>gTa	p.G16V		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		TTCTGATAATCCCACAAGGAT	0.473000													34	9					6.70999e-13	7.511e-13	0.203993	1	0
TRIM27	5987	broad.mit.edu	37	6	28876602	28876602	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:28876602T>A	ENST00000377199.3	-	6	1258	c.902A>T	c.(901-903)gAt>gTt	p.D301V	TRIM27_ENST00000377194.3_Missense_Mutation_p.D301V	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	301	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TTTCTCCATATCTGACTGCAT	0.368000			T	RET	papillary thyroid								24	10					0	0	0.091800	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632328	156632328	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156632328G>T	ENST00000296518.7	+	6	1220	c.1011G>T	c.(1009-1011)ggG>ggT	p.G337G	GUCY1A3_ENST00000393832.3_Silent_p.G79G|GUCY1A3_ENST00000455639.2_Silent_p.G337G|GUCY1A3_ENST00000513574.1_Silent_p.G337G|GUCY1A3_ENST00000506455.1_Silent_p.G337G|GUCY1A3_ENST00000511507.1_Silent_p.G337G|GUCY1A3_ENST00000511108.1_Silent_p.G337G			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					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)		CGTTTAGCGGGATCATGACTA	0.383000													73	30					2.93416e-43	4.21867e-43	0.139131	1	0
BCL2A1	597	broad.mit.edu	37	15	80263104	80263104	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:80263104A>G	ENST00000267953.3	-	1	684	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	BCL2A1_ENST00000335661.6_Missense_Mutation_p.Y120H	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	120					anti-apoptosis|apoptosis	cytoplasm	protein binding	p.Y120H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						GCAACAAAATATGAAATCTCC	0.388000													133	171					0	0	0.139131	0	0
DDO	8528	broad.mit.edu	37	6	110714170	110714170	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:110714170C>T	ENST00000368924.3	-	5	933	c.918G>A	c.(916-918)agG>agA	p.R306R	DDO_ENST00000368923.3_Silent_p.R247R|DDO_ENST00000368925.1_Silent_p.R278R	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	278					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GCCTGTAGGGCCTCAAGCCCA	0.607000													138	221					0	0	0.139131	0	0
GPR98	84059	broad.mit.edu	37	5	89938711	89938711	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:89938711G>T	ENST00000405460.2	+	13	2502	c.2406G>T	c.(2404-2406)agG>agT	p.R802S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	802					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCGATCAAGGGGGTCCCTTG	0.403000													92	25					1.04318e-46	1.53744e-46	0.139131	1	0
TUBB6	84617	broad.mit.edu	37	18	12325303	12325303	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:12325303C>T	ENST00000317702.5	+	4	749	c.515C>T	c.(514-516)tCg>tTg	p.S172L	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	172					'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)		GTCATGCCCTCGCCCAAGGTG	0.617000													98	103					0	0	0.139131	0	0
GRM5	2915	broad.mit.edu	37	11	88781022	88781022	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:88781022G>A	ENST00000418177.2	-	2	386	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GRM5_ENST00000393297.1_Silent_p.L7L|GRM5_ENST00000455756.2_Silent_p.L7L|GRM5_ENST00000305447.4_Silent_p.L7L|GRM5_ENST00000305432.5_Silent_p.L7L|GRM5_ENST00000393294.3_Silent_p.L7L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	7					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AAGACTGACAGGATCAACAGA	0.473000													23	16					0	0	0.264190	0	0
C5orf34	375444	broad.mit.edu	37	5	43502545	43502545	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:43502545C>A	ENST00000306862.2	-	6	1456	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	361										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GATTTGAAAACAGATCCATCC	0.308000													74	204					1.74474e-33	2.34201e-33	0.139131	1	0
ZNF442	79973	broad.mit.edu	37	19	12461204	12461204	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:12461204G>A	ENST00000242804.4	-	6	1777	c.1195C>T	c.(1195-1197)Cac>Tac	p.H399Y	ZNF442_ENST00000438182.1_Missense_Mutation_p.H330Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCTCCAGTGTGCATTATCATA	0.428000													168	241					0	0	0.139131	0	0
TNFSF14	8740	broad.mit.edu	37	19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:6664993G>A	ENST00000326176.9	-	5	940	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187C|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223C	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R223C(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612000													109	155					0	0	0.139131	0	0
TYW1B	441250	broad.mit.edu	37	7	72209696	72209696	+	RNA	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:72209696T>G	ENST00000438125.1	-	0	577							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCCTACTAGTATCTGCACGA	0.363000													12	16					0	0	0.080935	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407468	1407468	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1407468C>T	ENST00000381524.3	+	5	462	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Silent_p.V92V|CSF2RA_ENST00000381500.1_Silent_p.V92V|CSF2RA_ENST00000381529.3_Silent_p.V92V|CSF2RA_ENST00000381509.3_Silent_p.V92V|CSF2RA_ENST00000432318.2_Silent_p.V92V|CSF2RA_ENST00000361536.3_Silent_p.V92V|CSF2RA_ENST00000355805.2_Silent_p.V92V|CSF2RA_ENST00000417535.2_Silent_p.V92V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	92						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATGAAGGAGTCACATTTGAGG	0.423000													163	292					0	0	0.139131	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249164	90249164	+	RNA	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:90249164A>G	ENST00000468879.1	+	0	301																											TAGGAGACAGAGTCACCATCA	0.463000													110	165					0	0	0.139131	0	0
OSBPL3	26031	broad.mit.edu	37	7	24856232	24856232	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:24856232G>A	ENST00000313367.2	-	18	2475	c.2024C>T	c.(2023-2025)cCa>cTa	p.P675L	OSBPL3_ENST00000396431.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P639L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P644L|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P608L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P608L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	675					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACTTACACTGGCAGAGTCAC	0.448000													109	137					0	0	0.139131	0	0
MOB4	25843	broad.mit.edu	37	2	198413136	198413136	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:198413136G>T	ENST00000323303.4	+	6	686	c.431G>T	c.(430-432)aGc>aTc	p.S144I	MOB4_ENST00000497443.1_Intron|MOB4_ENST00000409916.1_Missense_Mutation_p.S45I|MOB4_ENST00000409360.1_Missense_Mutation_p.S112I|MOB4_ENST00000448447.2_Missense_Mutation_p.S123I|MOB4_ENST00000604458.1_Missense_Mutation_p.S180I|MOB4_ENST00000233892.4_Missense_Mutation_p.S112I	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2			MOB family member 4, phocein																		TATTTTCCCAGCAGGTAATCG	0.348000													49	78					2.81731e-22	3.44574e-22	0.139131	1	0
UNC13C	440279	broad.mit.edu	37	15	54307585	54307585	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:54307585T>C	ENST00000545554.1	+	1	2485	c.2485T>C	c.(2485-2487)Tta>Cta	p.L829L	UNC13C_ENST00000260323.11_Silent_p.L829L|UNC13C_ENST00000537900.1_Silent_p.L829L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	829					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGCTCTTCATTAATGGGGAG	0.428000													40	39					0	0	0.257332	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660775	100660775	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:100660775T>C	ENST00000416321.1	-	1	82	c.80A>G	c.(79-81)aAc>aGc	p.N27S		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	27					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CGGAAGCTCGTTCTGACTGAC	0.602000													97	119					0	0	0.139131	0	0
APOL3	80833	broad.mit.edu	37	22	36541544	36541544	+	Silent	SNP	G	G	A	rs61731691		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:36541544G>A	ENST00000397293.2	-	3	461	c.114C>T	c.(112-114)ttC>ttT	p.F38F	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000349314.2_Silent_p.F109F|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000361710.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	109					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						CCGCAGTCACGAATCTCTTCC	0.552000													50	105					0	0	0.139131	0	0
GJA10	84694	broad.mit.edu	37	6	90604608	90604608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:90604608C>T	ENST00000369352.1	+	1	421	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	141					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GTTAGAGGAGCAGAAGAGGAT	0.463000													49	72					0	0	0.139131	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762115	130762115	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130762115G>T	ENST00000392429.1	+	2	2926	c.548G>T	c.(547-549)gGc>gTc	p.G183V	TMEM200A_ENST00000545622.1_Missense_Mutation_p.G183V|TMEM200A_ENST00000296978.3_Missense_Mutation_p.G183V	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	183						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)		CAAATGAACGGCATGTACACT	0.443000													49	62					4.10826e-27	5.2739e-27	0.139131	1	0
DPYSL2	1808	broad.mit.edu	37	8	26501563	26501563	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:26501563A>T	ENST00000311151.5	+	10	1478	c.1066A>T	c.(1066-1068)Aat>Tat	p.N356Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.N320Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.N320Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	356					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGAGGGCACCAATGGCACTGA	0.577000													28	47					0	0	0.144211	0	0
FAM196A	642938	broad.mit.edu	37	10	128974408	128974408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:128974408G>T	ENST00000522781.1	-	4	807	c.252C>A	c.(250-252)taC>taA	p.Y84*	FAM196A_ENST00000424811.2_Nonsense_Mutation_p.Y84*|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	84										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTATTTGCGGTAGGCTGCTC	0.607000													68	22					1.55545e-33	2.09225e-33	0.139131	1	0
CR1L	1379	broad.mit.edu	37	1	207871016	207871016	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:207871016G>C	ENST00000508064.2	+	6	1091	c.1031G>C	c.(1030-1032)aGa>aCa	p.R344T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	344	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAGCCCCCAGATGTGAAGGT	0.493000													286	64					0	0	0.139131	0	0
ASB10	136371	broad.mit.edu	37	7	150878289	150878289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150878289G>A	ENST00000422024.1	-	3	1101	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	ASB10_ENST00000420175.2_Missense_Mutation_p.L281F|ASB10_ENST00000275838.1_Missense_Mutation_p.L281F|ASB10_ENST00000434669.1_Missense_Mutation_p.L326F|ASB10_ENST00000377867.3_Missense_Mutation_p.L266F	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	281					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGAAAGCAGCAAGCTG	0.677000													27	40					0	0	0.108266	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376612	21376612	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21376612C>T	ENST00000351817.4	-	2	1630	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	334					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						ccccggcggccgcgtccaggg	0.781000													17	11					0	0	0.116897	0	0
NPAP1	23742	broad.mit.edu	37	15	24921370	24921370	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:24921370C>T	ENST00000329468.2	+	1	830	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATCCCTCCTCCCAGCCGCATG	0.652000													71	89					0	0	0.139131	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110425733	110425733	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110425733C>T	ENST00000378402.5	+	21	2423	c.2319C>T	c.(2317-2319)agC>agT	p.S773S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	773					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)			TTACTAGAAGCACTGATACAC	0.289000										HNSCC(38;0.096)			7	4					0	0	0.038147	0	0
OR5A2	219981	broad.mit.edu	37	11	59189576	59189576	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:59189576G>T	ENST00000302040.4	-	1	873	c.851C>A	c.(850-852)cCc>cAc	p.P284H		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	284					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						ATTCACCACGGGGATCACCAA	0.478000													56	68					1.17673e-23	1.46977e-23	0.139131	1	0
LOC101926911	101926911	broad.mit.edu	37	15	91578573	91578573	+	RNA	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:91578573A>G	ENST00000557804.1	+	0	891																											CGCCTTTAAAAGGGCTAGGGC	0.438000													2	10					0	0	0.115264	0	0
CACNA2D1	781	broad.mit.edu	37	7	81693670	81693670	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:81693670C>A	ENST00000356860.3	-	9	1067	c.728_splice	c.e9-1	p.W243_splice	CACNA2D1_ENST00000423588.1_Splice_Site_p.W243_splice|CACNA2D1_ENST00000356253.5_Splice_Site_p.W243_splice	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	243						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTTGGATGTACCTGAAACAAA	0.318000													28	57					2.61193e-14	2.94925e-14	0.144211	1	0
DNAJC22	79962	broad.mit.edu	37	12	49745133	49745133	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:49745133G>A	ENST00000549441.2	+	4	2078	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	DNAJC22_ENST00000395069.3_Missense_Mutation_p.E292K			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	292	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						AACAAATGAAGAAATACATCG	0.522000													33	73					0	0	0.173368	0	0
KIF16B	55614	broad.mit.edu	37	20	16486697	16486697	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:16486697C>A	ENST00000354981.2	-	8	995	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	KIF16B_ENST00000355755.3_Missense_Mutation_p.V280L|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.V280L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	280	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCCAGAGTCACGAGGGACTTG	0.512000													80	377					9.59377e-39	1.34938e-38	0.139131	1	0
CYP2B6	1555	broad.mit.edu	37	19	41515933	41515933	+	Missense_Mutation	SNP	A	A	T	rs146617126	byFrequency	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:41515933A>T	ENST00000324071.4	+	6	864	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	286					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTCAGCCACCAGAACCTCAAC	0.562000													43	62					0	0	0.111260	0	0
ILF3	3609	broad.mit.edu	37	19	10794209	10794209	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:10794209T>C	ENST00000449870.1	+	15	2171	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F	ILF3_ENST00000420083.1_Silent_p.F614F|ILF3_ENST00000318511.3_Silent_p.F614F|ILF3_ENST00000589998.1_Silent_p.F614F|ILF3_ENST00000592763.1_Silent_p.F618F|ILF3_ENST00000588657.1_Silent_p.F618F|ILF3_ENST00000407004.3_Silent_p.F618F|ILF3_ENST00000250241.8_Silent_p.F614F|ILF3_ENST00000590261.1_Silent_p.F614F	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	614	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GACCGAAATTTGCTGCTAAGG	0.537000													75	118					0	0	0.139131	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978432	69978432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:69978432C>A	ENST00000305231.7	+	6	1614	c.1568C>A	c.(1567-1569)gCa>gAa	p.A523E	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	523					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						GCTAGAAAAGCAAAGAAGGGA	0.378000													48	25					1.67211e-32	2.22604e-32	0.139131	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102293008	102293008	+	RNA	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:102293008A>C	ENST00000561463.1	+	0	1054																		p.K171E(1)									GCGTGGGAACAAGAAGACACT	0.582000													3	21					0	0	0.150653	0	0
RORB	6096	broad.mit.edu	37	9	77257706	77257706	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:77257706A>G	ENST00000376896.2	+	4	1224	c.612A>G	c.(610-612)gcA>gcG	p.A204A	RORB_ENST00000396204.2_Silent_p.A215A	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	215	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCAGTTAGCACCAGGGATAA	0.408000													47	70					0	0	0.139131	0	0
WDR91	29062	broad.mit.edu	37	7	134893687	134893687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:134893687C>T	ENST00000354475.4	-	3	398	c.367G>A	c.(367-369)Gct>Act	p.A123T	WDR91_ENST00000423565.1_Missense_Mutation_p.A88T|WDR91_ENST00000344400.5_Missense_Mutation_p.A123T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	123										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCCACTCAGCCTGGTTCTGG	0.537000													81	134					0	0	0.139131	0	0
FAR1	84188	broad.mit.edu	37	11	13716315	13716315	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:13716315G>A	ENST00000354817.3	+	2	147	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	1					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GGATCAAAATGGTTTCAATCC	0.373000													42	21					0	0	0.117977	0	0
EPHA3	2042	broad.mit.edu	37	3	89521722	89521722	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:89521722G>T	ENST00000336596.2	+	16	3024	c.2799G>T	c.(2797-2799)acG>acT	p.T933T	EPHA3_ENST00000494014.1_Intron	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	933	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAATCTTCACGGGTGTGGAGT	0.413000										TSP Lung(6;0.00050)			60	28					1.32218e-49	1.96204e-49	0.139131	1	0
COL22A1	169044	broad.mit.edu	37	8	139638470	139638470	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139638470G>T	ENST00000303045.6	-	51	4126	c.3680C>A	c.(3679-3681)cCt>cAt	p.P1227H	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1207H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1227	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)			TTGGGGGCCAGGAGGGCCTTC	0.403000										HNSCC(7;0.00092)			33	78					1.04352e-10	1.14822e-10	0.193644	1	0
SAMD3	154075	broad.mit.edu	37	6	130465774	130465774	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:130465774G>T	ENST00000368134.2	-	14	2062	c.1454C>A	c.(1453-1455)tCc>tAc	p.S485Y	SAMD3_ENST00000457563.2_Missense_Mutation_p.S509Y|SAMD3_ENST00000439090.2_Missense_Mutation_p.S485Y|SAMD3_ENST00000437477.2_Missense_Mutation_p.S485Y	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	485										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GAAAGTTTGGGACAGTCTTCT	0.438000													63	100					7.55815e-43	1.08189e-42	0.139131	1	0
ZNF835	90485	broad.mit.edu	37	19	57175606	57175606	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57175606G>T	ENST00000537055.2	-	2	1192	c.961C>A	c.(961-963)Ctg>Atg	p.L321M		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.G334fs*26(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCTCGGCCAGAGAGGCGCTC	0.706000													9	9					0.0581538	0.0589741	0.058154	1	0
ZNF658	26149	broad.mit.edu	37	9	40774556	40774556	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:40774556T>C	ENST00000602553.1	-	5	1013	c.719A>G	c.(718-720)gAa>gGa	p.E240G	ZNF658_ENST00000377626.3_Missense_Mutation_p.E240G|ZNF658_ENST00000441795.1_Missense_Mutation_p.E238G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGGACTTTTCTCCTGTTAG	0.323000													74	87					0	0	0.139131	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													6	289					0	0	0.058154	0	0
BUB1B	701	broad.mit.edu	37	15	40488910	40488910	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:40488910G>A	ENST00000287598.6	+	9	1418	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	BUB1B_ENST00000412359.3_Missense_Mutation_p.G422E	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	408					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGGAGTAGGGGAATTCTCC	0.418000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				4	138					0	0	0.150653	0	0
BAGE2	85319	broad.mit.edu	37	21	11058319	11058319	+	RNA	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:11058319C>T	ENST00000470054.1	-	0	328									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)		ACAAAATGCACATCGCTGAAA	0.388000													25	253					0	0	0.264190	0	0
ASIC5	51802	broad.mit.edu	37	4	156752976	156752976	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:156752976C>A	ENST00000537611.2	-	9	1373	c.1327_splice	c.e9+1	p.A443_splice		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	443						integral to membrane|plasma membrane											TAACACTTACCAAGTAACTCA	0.378000													54	26					2.69774e-35	3.69797e-35	0.139131	1	0
MAPRE2	10982	broad.mit.edu	37	18	32681988	32681988	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:32681988G>C	ENST00000436190.2	+	5	713	c.439G>C	c.(439-441)Gat>Cat	p.D147H	MAPRE2_ENST00000413393.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000588910.1_Missense_Mutation_p.D159H|MAPRE2_ENST00000589699.1_Missense_Mutation_p.D116H|MAPRE2_ENST00000300249.5_Missense_Mutation_p.D159H|MAPRE2_ENST00000538170.2_Missense_Mutation_p.D106H	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	159	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAAATTCTATGATGCTAACTA	0.433000													44	54					0	0	0.268233	0	0
GPR149	344758	broad.mit.edu	37	3	154146445	154146445	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:154146445G>T	ENST00000389740.2	-	1	1059	c.960C>A	c.(958-960)gtC>gtA	p.V320V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	320						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)			GCCAAAGGACGACTTTTGTAA	0.567000													229	311					4.76836e-124	7.39839e-124	0.139131	1	0
NPAP1	23742	broad.mit.edu	37	15	24922340	24922340	+	Silent	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:24922340T>G	ENST00000329468.2	+	1	1800	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTATCCCTCCACTTTCCA	0.527000													60	100					0	0	0.139131	0	0
USP30	84749	broad.mit.edu	37	12	109522854	109522854	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:109522854C>T	ENST00000257548.5	+	12	1358	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	USP30_ENST00000392784.2_Missense_Mutation_p.P391L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	422					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATGCCCTTCCCTCTCCCAGTT	0.507000													250	374					0	0	0.139131	0	0
ZNF578	147660	broad.mit.edu	37	19	53013843	53013843	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53013843T>G	ENST00000421239.2	+	6	453	c.209T>G	c.(208-210)aTg>aGg	p.M70R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCAAACGCATGATGAAGGAG	0.373000													115	216					0	0	0.139131	0	0
C1orf65	164127	broad.mit.edu	37	1	223568029	223568029	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:223568029C>G	ENST00000366875.3	+	1	1315	c.1212C>G	c.(1210-1212)gcC>gcG	p.A404A		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	404										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGGTGGAAGCCTGTCGCAAGA	0.622000													43	6					0	0	0.139131	0	0
KCNK17	89822	broad.mit.edu	37	6	39272355	39272355	+	Silent	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:39272355G>C	ENST00000453413.2	-	3	569	c.429C>G	c.(427-429)ctC>ctG	p.L143L	KCNK17_ENST00000373231.4_Silent_p.L143L	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCACGAGGTTGAGTGGGATCC	0.637000													91	172					0	0	0.139131	0	0
NFKB2	4791	broad.mit.edu	37	10	104161253	104161253	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:104161253C>A	ENST00000369966.3	+	20	2521	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	NFKB2_ENST00000428099.1_Silent_p.P757P|NFKB2_ENST00000189444.6_Silent_p.P757P	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	757			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)		TGGAGCCACCCCTGACCCCGC	0.597000			T	IGH@	B-NHL								32	21					2.75727e-19	3.25539e-19	0.214465	1	0
DPY19L3	147991	broad.mit.edu	37	19	32973120	32973120	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:32973120G>T	ENST00000342179.5	+	19	2340	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	DPY19L3_ENST00000392250.2_Missense_Mutation_p.V709F|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	709						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					AACCTTCCACGTTTACAAGCT	0.458000													102	157					1.33972e-64	2.04916e-64	0.139131	1	0
CNNM1	26507	broad.mit.edu	37	10	101120594	101120594	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:101120594G>C	ENST00000356713.4	+	3	2009	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	CNNM1_ENST00000446890.1_Missense_Mutation_p.D503H|CNNM1_ENST00000370534.4_Missense_Mutation_p.D209H|CNNM1_ENST00000370528.3_Missense_Mutation_p.D503H	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	574					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCCCACAGCTGACAATCGGAA	0.507000													137	58					0	0	0.139131	0	0
OR2F2	135948	broad.mit.edu	37	7	143633169	143633169	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:143633169A>T	ENST00000408955.2	+	1	911	c.844A>T	c.(844-846)Atg>Ttg	p.M282L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	282					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)					TGCCATTGTTATGCCTCTGCT	0.463000													88	111					0	0	0.139131	0	0
C10orf71	118461	broad.mit.edu	37	10	50532657	50532657	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:50532657G>A	ENST00000374144.3	+	3	2355	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	C10orf71_ENST00000323868.4_Silent_p.Q689Q			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	689								p.Q689Q(2)		endometrium(1)	1						CAGGACTTCAGAACACACATT	0.502000													25	11					0	0	0.099896	0	0
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGAGCCAACCTAGGAGATAAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			53	10					0	0	0.139131	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433465	73433465	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:73433465T>C	ENST00000263666.4	-	10	2366	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	PDZRN3_ENST00000479530.1_Missense_Mutation_p.D468G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D408G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D408G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D473G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	751							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGTCCTTGTCGGATTTCTC	0.617000													26	12					0	0	0.099896	0	0
ZNF782	158431	broad.mit.edu	37	9	99580614	99580614	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:99580614C>G	ENST00000481138.1	-	6	2352	c.1691G>C	c.(1690-1692)tGt>tCt	p.C564S	ZNF782_ENST00000535338.1_Missense_Mutation_p.C432S	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACAATGATTACATTTATAGGG	0.413000													156	254					0	0	0.139131	0	0
SIAH3	283514	broad.mit.edu	37	13	46357979	46357979	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:46357979C>A	ENST00000400405.2	-	2	455	c.349G>T	c.(349-351)Gaa>Taa	p.E117*		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	117					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.E117K(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						AGGCGGCCTTCCCACTGGCAG	0.667000													55	24					4.67498e-28	6.07372e-28	0.139131	1	0
COL11A1	1301	broad.mit.edu	37	1	103496752	103496752	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:103496752C>T	ENST00000358392.2	-	5	1017	c.700G>A	c.(700-702)Gac>Aac	p.D234N	COL11A1_ENST00000512756.1_Missense_Mutation_p.D234N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D234N|COL11A1_ENST00000370096.3_Missense_Mutation_p.D234N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	234	Nonhelical 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)		TCACAGTAGTCATATGCTGCC	0.443000													21	41					0	0	0.219247	0	0
TTN	7273	broad.mit.edu	37	2	179427269	179427269	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179427269G>A	ENST00000589042.1	-	326	83814	c.83590C>T	c.(83590-83592)Ccc>Tcc	p.P27864S	TTN_ENST00000359218.5_Missense_Mutation_p.P18924S|TTN_ENST00000342992.6_Missense_Mutation_p.P25296S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18991S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P26223S|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18799S|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26223	Ig-like 130.						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)			GGTGGGAGGGGTGGTTCAGAC	0.448000													52	76					0	0	0.139131	0	0
LIN28B	389421	broad.mit.edu	37	6	105406115	105406115	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:105406115G>A	ENST00000345080.4	+	2	355	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	51	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGATAAACCGAGAGGGAAGC	0.498000													99	154					0	0	0.139131	0	0
CYP4A11	1579	broad.mit.edu	37	1	47407066	47407066	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:47407066C>A	ENST00000310638.4	-	1	71	c.40G>T	c.(40-42)Gat>Tat	p.D14Y	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D14Y|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D14Y	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	14					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CCAGAGACATCACCCAGGAGT	0.597000													68	123					2.42712e-22	2.97979e-22	0.139131	1	0
DNAH11	8701	broad.mit.edu	37	7	21730396	21730396	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:21730396G>T	ENST00000328843.6	+	36	5990	c.5959G>T	c.(5959-5961)Ggg>Tgg	p.G1987W	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1980W			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1987	AAA 1 (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						TGTATTTCTTGGGGAAGCTAT	0.353000									Kartagener syndrome				112	166					8.58103e-55	1.29718e-54	0.139131	1	0
ENPP2	5168	broad.mit.edu	37	8	120602744	120602744	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:120602744C>A	ENST00000427067.2	-	13	1376		c.e13+1		ENPP2_ENST00000522167.1_Splice_Site|ENPP2_ENST00000075322.6_Splice_Site|ENPP2_ENST00000259486.6_Splice_Site|ENPP2_ENST00000522826.1_Splice_Site			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2						cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATCAACTTACATTTAGCATT	0.333000													29	39					7.38237e-10	8.02755e-10	0.116897	1	0
FLNC	2318	broad.mit.edu	37	7	128488080	128488080	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:128488080A>G	ENST00000325888.8	+	26	4799	c.4538A>G	c.(4537-4539)tAc>tGc	p.Y1513C	FLNC_ENST00000346177.6_Missense_Mutation_p.Y1513C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1513					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						GACGGGCCCTACACGGTAGCC	0.667000													8	9					0	0	0.093190	0	0
IL3RA	3563	broad.mit.edu	37	X	1464240	1464240	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:1464240G>C	ENST00000331035.4	+	3	445	c.96G>C	c.(94-96)atG>atC	p.M32I	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	32						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACCTAAGGATGAAAGCAAAGG	0.443000													5	353					0	0	0.217242	0	0
ADAM29	11086	broad.mit.edu	37	4	175896743	175896743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:175896743G>T	ENST00000359240.3	+	5	737	c.67G>T	c.(67-69)Gag>Tag	p.E23*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E23*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E23*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E23*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	23					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)		CATCCAGGATGAGCACCCCCA	0.498000													63	20					7.55815e-43	1.08189e-42	0.139131	1	0
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3667	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)					CACCTGTGATCACTTCTACCC	0.502000													86	138					4.47867e-22	5.43659e-22	0.139131	1	0
A1CF	29974	broad.mit.edu	37	10	52573752	52573752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:52573752G>T	ENST00000395489.2	-	12	1587	c.1191C>A	c.(1189-1191)taC>taA	p.Y397*	A1CF_ENST00000373997.3_Nonsense_Mutation_p.Y396*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.Y349*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.Y404*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.Y396*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.Y404*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Nonsense_Mutation_p.Y404*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	404	Required for nuclear localization.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGGCCTGTGTATGCCAAAT	0.483000													94	30					2.08528e-44	3.02506e-44	0.139131	1	0
RGL3	57139	broad.mit.edu	37	19	11510943	11510943	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:11510943T>C	ENST00000380456.3	-	14	1578	c.1515A>G	c.(1513-1515)ccA>ccG	p.P505P	RGL3_ENST00000393423.3_Silent_p.P505P	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	505	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGGAGGCAGCTGGTGGCTCAA	0.612000													44	83					0	0	0.139131	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817451	21817451	+	RNA	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:21817451C>T	ENST00000546471.1	-	0	1607																											TCAATACTTACATCCAGCTTG	0.264000													16	7					0	0	0.132662	0	0
PLSCR5	389158	broad.mit.edu	37	3	146309588	146309588	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:146309588G>T	ENST00000443512.1	-	5	1537	c.534C>A	c.(532-534)atC>atA	p.I178I	PLSCR5_ENST00000492200.1_Silent_p.I178I|PLSCR5_ENST00000482567.1_Silent_p.I166I	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	178										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TTGCATTTTGGATTGTGAATT	0.388000													61	26					2.22609e-26	2.83519e-26	0.139131	1	0
NGEF	25791	broad.mit.edu	37	2	233839522	233839522	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233839522G>T	ENST00000264051.3	-	2	357	c.79C>A	c.(79-81)Cca>Aca	p.P27T		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	27	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACCTTGGCTGGTTCATTATCA	0.443000													81	125					1.51875e-23	1.89332e-23	0.139131	1	0
MYCT1	80177	broad.mit.edu	37	6	153043144	153043144	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:153043144C>G	ENST00000367245.5	+	2	472	c.464C>G	c.(463-465)tCc>tGc	p.S155C	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	155						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAAGCAAATTCCTTTCCAAGA	0.498000													76	121					0	0	0.139131	0	0
RGS6	9628	broad.mit.edu	37	14	72939588	72939588	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:72939588G>A	ENST00000553530.1	+	9	752	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	RGS6_ENST00000556437.1_Missense_Mutation_p.R182Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R182Q|RGS6_ENST00000402788.2_Missense_Mutation_p.R182Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R182Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R182Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Missense_Mutation_p.R182Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R43Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R182Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R182Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R113Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R182Q	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	182					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)		AGGATTGACCGGAAAAAAGAC	0.448000													125	56					0	0	0.139131	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905948	144905948	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:144905948T>A	ENST00000370490.1	+	1	6260	c.2005T>A	c.(2005-2007)Tat>Aat	p.Y669N	SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y669N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y669N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	669						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATTACAGTATGGGTCTTA	0.478000													85	15					0	0	0.139131	0	0
DACH2	117154	broad.mit.edu	37	X	85994839	85994839	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:85994839T>A	ENST00000373131.1	+	6	1318	c.1155T>A	c.(1153-1155)agT>agA	p.S385R	DACH2_ENST00000373125.4_Missense_Mutation_p.S398R|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.S231R|DACH2_ENST00000510272.1_Missense_Mutation_p.S179R	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAGCAGCAGTGTGTCCAGCT	0.468000													21	3					0	0	0.234183	0	0
POF1B	79983	broad.mit.edu	37	X	84634342	84634342	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:84634342G>T	ENST00000262753.4	-	2	263	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	POF1B_ENST00000373145.3_Missense_Mutation_p.Q40K	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	40							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						GGAGGCTGCTGGGCTTGGCTT	0.577000													34	4					3.21399e-22	3.9235e-22	0.214465	1	0
COL27A1	85301	broad.mit.edu	37	9	117050772	117050772	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117050772C>A	ENST00000356083.3	+	42	4416	c.4025C>A	c.(4024-4026)cCt>cAt	p.P1342H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1342	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGGGGCCCCCTGGGCCACCT	0.662000													7	13					0.00448238	0.00458152	0.047766	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361622	105361622	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:105361622C>G	ENST00000297581.2	+	2	891	c.842C>G	c.(841-843)cCg>cGg	p.P281R	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	281					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GTCATCATCCCGACTTTCTGG	0.478000													110	127					0	0	0.139131	0	0
LPHN2	23266	broad.mit.edu	37	1	82409022	82409022	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:82409022A>G	ENST00000370728.1	+	8	1412	c.767A>G	c.(766-768)tAc>tGc	p.Y256C	LPHN2_ENST00000370715.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y256C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y256C|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y260C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y256C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y256C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y256C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y256C			O95490	LPHN2_HUMAN	latrophilin 2	256	Olfactomedin-like.				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)		ACCTCACCATACAGATGGGGA	0.393000													60	88					0	0	0.139131	0	0
ZNF548	147694	broad.mit.edu	37	19	57910559	57910559	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:57910559G>T	ENST00000366197.5	+	3	1154	c.904G>T	c.(904-906)Gtt>Ttt	p.V302F	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.V314F|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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)		ACATCAGAGAGTTCACACCGG	0.458000													38	65					4.62619e-21	5.54286e-21	0.203993	1	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785317	22785317	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:22785317G>T	ENST00000600260.1	+	0	1493					NR_033899.1																						AGAAACTGCAGGTGAGTGAGT	0.607000													12	13					0.00010058	0.00010412	0.093190	1	0
OR2T12	127064	broad.mit.edu	37	1	248458280	248458280	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248458280A>T	ENST00000317996.1	-	1	600	c.601T>A	c.(601-603)Tgt>Agt	p.C201S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			ATTAACACACAGCAGATGTAC	0.542000													107	24					0	0	0.139131	0	0
DICER1	23405	broad.mit.edu	37	14	95595897	95595897	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:95595897G>A	ENST00000526495.1	-	8	937	c.646C>T	c.(646-648)Cca>Tca	p.P216S	DICER1_ENST00000343455.3_Missense_Mutation_p.P216S|DICER1_ENST00000541352.1_Missense_Mutation_p.P216S|DICER1_ENST00000393063.1_Missense_Mutation_p.P216S|DICER1_ENST00000527414.1_Missense_Mutation_p.P216S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	216	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AATTCCTCTGGATCACATTTC	0.373000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				61	21					0	0	0.139131	0	0
CCNJL	79616	broad.mit.edu	37	5	159680601	159680601	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:159680601G>A	ENST00000393977.3	-	7	1377	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Silent_p.H316H	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	364						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	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)			TCCCTGAACGGTGGGCCTGCA	0.662000													51	18					0	0	0.139131	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283758	33283758	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33283758C>A	ENST00000431845.2	-	2	1087	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ZBTB22_ENST00000418724.1_Silent_p.L312L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTTGGGGAACCAGGGGTGTTG	0.567000													48	104					7.77372e-23	9.59847e-23	0.139131	1	0
LRRC16A	55604	broad.mit.edu	37	6	25420376	25420376	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:25420376C>T	ENST00000329474.6	+	3	541	c.173C>T	c.(172-174)gCg>gTg	p.A58V	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	58					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTTGTAACAGCGCGAATCCCC	0.483000													8	234					0	0	0.038147	0	0
FAM135B	51059	broad.mit.edu	37	8	139180143	139180143	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:139180143G>T	ENST00000395297.1	-	12	1423	c.1253C>A	c.(1252-1254)gCg>gAg	p.A418E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	418										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)			CAAACCTGTCGCAGGGCAGTC	0.507000										HNSCC(54;0.14)			91	114					1.37074e-43	1.97521e-43	0.139131	1	0
SYCP2L	221711	broad.mit.edu	37	6	10899058	10899058	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:10899058T>C	ENST00000283141.6	+	6	739	c.441_splice	c.e6-1	p.I148_splice	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	148						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)			TTTTGTTAGATTATTTCCAGG	0.289000													88	31					0	0	0.139131	0	0
PARP1	142	broad.mit.edu	37	1	226549218	226549218	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:226549218C>T	ENST00000366794.5	-	23	3131	c.2988G>A	c.(2986-2988)caG>caA	p.Q996Q	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	996	PARP catalytic.				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)		TCAGATTTACCTGAGCAATAT	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					50	6					0	0	0.139131	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959954	92959954	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:92959954G>A	ENST00000532405.1	+	17	2077	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	SLC24A4_ENST00000298877.1_Missense_Mutation_p.M600I|SLC24A4_ENST00000393265.2_Missense_Mutation_p.M553I|SLC24A4_ENST00000351924.5_Missense_Mutation_p.M581I|SLC24A4_ENST00000531433.1_Missense_Mutation_p.M598I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	617						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)		ACTTGCCGATGTGCCGGGAAG	0.562000													25	2					0	0	0.125774	0	0
CD22	933	broad.mit.edu	37	19	35828817	35828817	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:35828817C>T	ENST00000085219.5	+	5	944	c.878C>T	c.(877-879)aCg>aTg	p.T293M	CD22_ENST00000419549.2_Missense_Mutation_p.T121M|CD22_ENST00000594250.1_Intron|CD22_ENST00000341773.6_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.T293M|CD22_ENST00000536635.2_Missense_Mutation_p.T293M|CD22_ENST00000270311.6_Missense_Mutation_p.T173M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	293	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AATACATTCACGCTAAACCTG	0.562000													32	48					0	0	0.134883	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519932	113519932	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:113519932T>C	ENST00000284601.3	-	4	1283	c.1215A>G	c.(1213-1215)tcA>tcG	p.S405S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	405					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAGTTTCCTCTGAAGGTTGAT	0.413000													186	203					0	0	0.139131	0	0
RAD23B	5887	broad.mit.edu	37	9	110086243	110086243	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:110086243C>T	ENST00000358015.3	+	8	1241	c.890C>T	c.(889-891)tCc>tTc	p.S297F	RAD23B_ENST00000416373.2_Missense_Mutation_p.S225F	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	297	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGAATCCTTCCTTGCTTCCA	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)					79	111					0	0	0.139131	0	0
COL6A5	256076	broad.mit.edu	37	3	130188184	130188184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:130188184G>T	ENST00000265379.6	+	38	7830	c.7336G>T	c.(7336-7338)Ggc>Tgc	p.G2446C	COL6A5_ENST00000432398.2_Missense_Mutation_p.G2446C			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2446	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTTTTCCTTTGGCCCTAAACA	0.443000													23	105					2.32416e-17	2.69004e-17	0.249174	1	0
NLRP2	55655	broad.mit.edu	37	19	55494535	55494535	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:55494535G>C	ENST00000543010.1	+	6	1612	c.1469G>C	c.(1468-1470)cGc>cCc	p.R490P	NLRP2_ENST00000538819.1_Missense_Mutation_p.R466P|NLRP2_ENST00000427260.2_Missense_Mutation_p.R467P|NLRP2_ENST00000339757.7_Missense_Mutation_p.R468P|NLRP2_ENST00000263437.6_Missense_Mutation_p.R487P|NLRP2_ENST00000537859.1_Missense_Mutation_p.R468P|NLRP2_ENST00000391721.4_Missense_Mutation_p.R466P|NLRP2_ENST00000448584.2_Missense_Mutation_p.R490P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	490	NACHT.				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)		GACATCCTCCGCCAGGACAGA	0.602000													49	77					0	0	0.139131	0	0
SNHG14	104472715	broad.mit.edu	37	15	25419978	25419978	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:25419978C>A	ENST00000549301.1	+	0	713				SNHG14_ENST00000441592.2_RNA																							gtttggggtccctgacttccc	0.507000													63	78					1.45723e-30	1.91243e-30	0.139131	1	0
POLR3B	55703	broad.mit.edu	37	12	106760311	106760311	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:106760311A>G	ENST00000228347.4	+	3	345	c.123A>G	c.(121-123)aaA>aaG	p.K41K	POLR3B_ENST00000539066.1_5'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	41					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						GCCTTGTGAAACAGCATATAG	0.318000													45	44					0	0	0.139131	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816732	43816732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:43816732C>A	ENST00000377564.3	+	6	1231	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.L280I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	280	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CATCGAGCTCCTCGACACGCA	0.488000													31	85					4.40281e-34	5.94701e-34	0.246493	1	0
TMEM181	57583	broad.mit.edu	37	6	159052421	159052421	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:159052421G>T	ENST00000367090.3	+	16	1771	c.1760_splice	c.e16+1	p.G587_splice		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	587					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GTGATTTATGGGTAAGTCCCT	0.468000													81	127					1.32764e-51	1.993e-51	0.139131	1	0
RXFP2	122042	broad.mit.edu	37	13	32339279	32339279	+	Splice_Site	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:32339279T>A	ENST00000298386.2	+	4	496	c.425_splice	c.e4+1	p.L142_splice	RXFP2_ENST00000380314.1_Splice_Site_p.L142_splice	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	142						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)		GTGACATTACTGTGAGTAAAA	0.343000													38	12					0	0	0.203993	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601279	55601279	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:55601279T>C	ENST00000457326.2	+	1	696	c.611T>C	c.(610-612)aTg>aCg	p.M204T	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	204	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GATGGAGATATGGATTTTAAC	0.478000													198	66					0	0	0.139131	0	0
UTRN	7402	broad.mit.edu	37	6	144843114	144843114	+	Splice_Site	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:144843114A>G	ENST00000367545.3	+	39	5541		c.e39-1			NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGTTTTTGTAGGCAATCCCT	0.289000													3	150					0	0	0.150653	0	0
FGD4	121512	broad.mit.edu	37	12	32735204	32735204	+	Missense_Mutation	SNP	A	A	G	rs139620944	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:32735204A>G	ENST00000427716.2	+	4	827	c.403A>G	c.(403-405)Act>Gct	p.T135A	FGD4_ENST00000534526.2_Missense_Mutation_p.T272A|FGD4_ENST00000531134.1_Missense_Mutation_p.T220A|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.T247A|FGD4_ENST00000472289.1_Missense_Mutation_p.T135A|FGD4_ENST00000546442.1_Missense_Mutation_p.T42A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	135	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGAGATGAAACTGCCACAGC	0.493000													38	94					0	0	0.139131	0	0
OR51F1	256892	broad.mit.edu	37	11	4790409	4790409	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:4790409C>A	ENST00000380383.1	-	1	759	c.760G>T	c.(760-762)Gtg>Ttg	p.V254L	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V247L|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	247						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTGCTCCCACATGGGAGACA	0.488000													49	23					4.10826e-27	5.2739e-27	0.139131	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90503213	90503213	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:90503213C>A	ENST00000325643.5	+	4	3877	c.3811C>A	c.(3811-3813)Cca>Aca	p.P1271T		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAGTCACCATCCACAGGGTCT	0.542000													31	73					1.08312e-15	1.2316e-15	0.144211	1	0
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.597000													4	26					0	0	0.184627	0	0
TNC	3371	broad.mit.edu	37	9	117793913	117793913	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:117793913G>T	ENST00000350763.4	-	23	6250	c.5839C>A	c.(5839-5841)Cca>Aca	p.P1947T	TNC_ENST00000423613.2_Missense_Mutation_p.P1674T|TNC_ENST00000345230.3_Missense_Mutation_p.P1310T|TNC_ENST00000346706.3_Missense_Mutation_p.P1401T|TNC_ENST00000341037.4_Missense_Mutation_p.P1765T|TNC_ENST00000340094.3_Missense_Mutation_p.P1583T|TNC_ENST00000537320.1_Missense_Mutation_p.P1310T|TNC_ENST00000535648.1_Missense_Mutation_p.P1492T|TNC_ENST00000542877.1_Missense_Mutation_p.P1584T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1947	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGGTGGATGGGCTCAGGTCT	0.512000													78	117					2.72187e-29	3.55767e-29	0.139131	1	0
SPATA5	166378	broad.mit.edu	37	4	123868598	123868598	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:123868598C>T	ENST00000274008.3	+	9	1738	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	557					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						AAATAGTGCTCATGGATACGT	0.478000													70	26					0	0	0.139131	0	0
ACAN	176	broad.mit.edu	37	15	89388786	89388786	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:89388786G>A	ENST00000439576.2	+	7	1476	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACAN_ENST00000561243.1_Missense_Mutation_p.E368K|ACAN_ENST00000559004.1_Missense_Mutation_p.E368K|ACAN_ENST00000558207.1_Missense_Mutation_p.E368K|ACAN_ENST00000352105.7_Missense_Mutation_p.E368K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	368					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)			GGGGGGTGAGGAGGACATCAC	0.572000													28	38					0	0	0.108266	0	0
DMRTC2	63946	broad.mit.edu	37	19	42352590	42352590	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:42352590C>A	ENST00000269945.3	+	4	492	c.441C>A	c.(439-441)ccC>ccA	p.P147P	DMRTC2_ENST00000596827.1_Silent_p.P147P|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	147	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGACACCCCCCGGGAAGGTAA	0.607000													6	22					8.12818e-05	8.42778e-05	0.248553	1	0
ANKS1B	56899	broad.mit.edu	37	12	99548223	99548223	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:99548223G>T	ENST00000550693.2	-	1	301	c.48C>A	c.(46-48)ccC>ccA	p.P16P	ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546960.1_Silent_p.P16P|ANKS1B_ENST00000546568.1_Silent_p.P16P|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000549558.2_Silent_p.P16P|ANKS1B_ENST00000549493.2_Silent_p.P16P|ANKS1B_ENST00000332712.7_Silent_p.P16P|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGCCGTCCACGGGGTAATAGC	0.537000													44	41					7.88023e-25	9.95803e-25	0.139131	1	0
AMIGO3	386724	broad.mit.edu	37	3	49755619	49755619	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:49755619T>G	ENST00000535833.1	-	10	4730	c.1280A>C	c.(1279-1281)cAa>cCa	p.Q427P	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.Q427P			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	427					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)		GCTCAGCTCTTGGAGCGGGCT	0.682000													74	27					0	0	0.139131	0	0
OR5M10	390167	broad.mit.edu	37	11	56344286	56344286	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:56344286C>T	ENST00000526812.2	-	1	977	c.912G>A	c.(910-912)atG>atA	p.M304I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCCCCTAATCATTTGTTGTA	0.373000													159	217					0	0	0.139131	0	0
OR4K1	79544	broad.mit.edu	37	14	20403895	20403895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20403895C>T	ENST00000285600.4	+	1	129	c.70C>T	c.(70-72)Caa>Taa	p.Q24*		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGGGGACTTCAACTTTTCTT	0.358000													196	326					0	0	0.139131	0	0
ZEB2	9839	broad.mit.edu	37	2	145147422	145147422	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:145147422A>G	ENST00000558170.2	-	10	4425	c.3241T>C	c.(3241-3243)Tgc>Cgc	p.C1081R	ZEB2_ENST00000539609.3_Missense_Mutation_p.C1057R|ZEB2_ENST00000303660.4_Missense_Mutation_p.C1081R|ZEB2_ENST00000409487.3_Missense_Mutation_p.C1081R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1081						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGCTTGCAGTAGGAATAC	0.602000													47	73					0	0	0.139131	0	0
OR10K2	391107	broad.mit.edu	37	1	158389859	158389859	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:158389859G>A	ENST00000314902.2	-	1	797	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGCTTGAGGAGTAGTTGGACT	0.398000													133	20					0	0	0.139131	0	0
WDR45	11152	broad.mit.edu	37	X	48933527	48933527	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:48933527C>G	ENST00000356463.3	-	8	955	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	WDR45_ENST00000485908.1_Missense_Mutation_p.V137L|WDR45_ENST00000553851.1_Missense_Mutation_p.V70L|WDR45_ENST00000473974.1_Missense_Mutation_p.V172L|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000396681.4_Missense_Mutation_p.V172L|WDR45_ENST00000376358.3_Missense_Mutation_p.V70L|WDR45_ENST00000376368.2_Missense_Mutation_p.V173L|WDR45_ENST00000376372.3_Missense_Mutation_p.V172L|WDR45_ENST00000322995.8_Missense_Mutation_p.V183L	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	172					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CGGCTCACCACAAGTTGCAGA	0.597000													31	3					0	0	0.183431	0	0
MUC3A	4584	broad.mit.edu	37	7	100551579	100551579	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:100551579T>C	ENST00000319509.7	+	1	330	c.330T>C	c.(328-330)atT>atC	p.I110I						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCCTCAGAATTACTGAGAACA	0.493000													186	318					0	0	0.139131	0	0
WDFY1	57590	broad.mit.edu	37	2	224765920	224765920	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:224765920C>T	ENST00000233055.4	-	5	567	c.465G>A	c.(463-465)acG>acA	p.T155T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	155						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AAGCCCAGGACGTGAAGAAGT	0.577000													50	75					0	0	0.139131	0	0
PLG	5340	broad.mit.edu	37	6	161173182	161173182	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:161173182C>A	ENST00000308192.9	+	18	2224	c.2161C>A	c.(2161-2163)Ctc>Atc	p.L721I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	721	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)	GGAAGCCCAGCTCCCTGTGAT	0.468000													49	65					5.73435e-26	7.28905e-26	0.139131	1	0
ANKRD24	170961	broad.mit.edu	37	19	4200161	4200161	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:4200161C>T	ENST00000600132.1	+	5	612	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ANKRD24_ENST00000262970.5_Silent_p.D202D|ANKRD24_ENST00000318934.4_Silent_p.D112D	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	112										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGAGCGCGGACGGGGCAGGTA	0.652000													3	17					0	0	0.115264	0	0
KCNV1	27012	broad.mit.edu	37	8	110984922	110984922	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110984922G>T	ENST00000524391.1	-	3	1588	c.556C>A	c.(556-558)Caa>Aaa	p.Q186K	KCNV1_ENST00000297404.1_Missense_Mutation_p.Q186K			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	186						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.Q186K(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAAGGTCCTTGGGAGAAGTCC	0.458000													61	98					1.45723e-30	1.91243e-30	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179470333	179470333	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179470333A>G	ENST00000589042.1	-	279	53913	c.53689T>C	c.(53689-53691)Tat>Cat	p.Y17897H	TTN_ENST00000359218.5_Missense_Mutation_p.Y8957H|TTN_ENST00000342992.6_Missense_Mutation_p.Y15329H|TTN_ENST00000342175.6_Missense_Mutation_p.Y9024H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y16256H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y8832H|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16256	Fibronectin type-III 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)			TCAATGATATATCCTTGGATG	0.443000													76	133					0	0	0.139131	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	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													4	121					0	0	0.150653	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966370	23966370	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:23966370C>T	ENST00000335694.4	-	5	669	c.465G>A	c.(463-465)gtG>gtA	p.V155V	GGTLC1_ENST00000286890.4_Silent_p.V155V|GGTLC1_ENST00000278765.4_Silent_p.V155V	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGGGCTCCTCCACGGCCCACT	0.607000													161	125					0	0	0.139131	0	0
MIR30D	407033	broad.mit.edu	37	8	135817170	135817170	+	RNA	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:135817170C>A	ENST00000362283.1	-	0	18					NR_029599.1																						AGCTTCCAGTCGGGGATGTTT	0.398000													84	118					8.2577e-42	1.17941e-41	0.139131	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961161	73961161	+	Silent	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:73961161A>G	ENST00000373468.1	-	3	3882	c.3231T>C	c.(3229-3231)ccT>ccC	p.P1077P	KIAA2022_ENST00000055682.5_Silent_p.P1077P			Q5QGS0	K2022_HUMAN	KIAA2022	1077					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGAAAGACTAGGGGTGTCCG	0.502000													102	34					0	0	0.139131	0	0
SLIT2	9353	broad.mit.edu	37	4	20555507	20555507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:20555507C>T	ENST00000504154.1	+	26	2893	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	SLIT2_ENST00000503837.1_Missense_Mutation_p.P877S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P873S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P885S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	881	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATATAAGGAGCCTGGAATTGC	0.428000													98	12					0	0	0.139131	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110402680	110402680	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:110402680G>T	ENST00000378402.5	+	9	801		c.e9-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			TTAAATTCCAGGTCATCACAA	0.274000										HNSCC(38;0.096)			4	7					0.184627	0.186355	0.184627	1	0
NIPBL	25836	broad.mit.edu	37	5	37064663	37064663	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:37064663C>T	ENST00000282516.8	+	47	8583	c.8084C>T	c.(8083-8085)aCg>aTg	p.T2695M		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2695					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)			TCAGACTCTACGGAGTTGGCA	0.393000													107	240					0	0	0.139131	0	0
IGLV1-50	28821	broad.mit.edu	37	22	22681963	22681963	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr22:22681963G>T	ENST00000390291.2	+	0	196																											CTCCAACATTGGGGCGGGTTA	0.612000													435	57					2.53071e-192	3.94547e-192	0.139131	1	0
RYR1	6261	broad.mit.edu	37	19	38934789	38934789	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:38934789G>A	ENST00000355481.4	+	6	556	c.424_splice	c.e6-1	p.G142_splice	RYR1_ENST00000360985.3_Splice_Site_p.G142_splice|RYR1_ENST00000359596.3_Splice_Site_p.G142_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	142	MIR 1.				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)	CCACCCATAGGAGAGGCTTGC	0.612000													20	34					0	0	0.204396	0	0
FCHO1	23149	broad.mit.edu	37	19	17886888	17886888	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17886888G>T	ENST00000594202.1	+	16	1379	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L	FCHO1_ENST00000596536.1_Missense_Mutation_p.R367L|FCHO1_ENST00000252771.7_Missense_Mutation_p.R367L|FCHO1_ENST00000600676.1_Missense_Mutation_p.R367L|FCHO1_ENST00000595033.1_Missense_Mutation_p.R317L|FCHO1_ENST00000597512.1_Missense_Mutation_p.R374L|FCHO1_ENST00000389133.4_Missense_Mutation_p.R367L|FCHO1_ENST00000596951.1_Missense_Mutation_p.R367L|FCHO1_ENST00000539407.1_Missense_Mutation_p.R367L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	367										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCCCCGGCCCGGGCTCCAGCC	0.697000													56	63					8.77104e-35	1.1922e-34	0.139131	1	0
OR4C3	256144	broad.mit.edu	37	11	48347133	48347133	+	Missense_Mutation	SNP	G	G	T	rs139158085		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:48347133G>T	ENST00000319856.4	+	1	662	c.641G>T	c.(640-642)tGc>tTc	p.C214F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAAGTTGCCTGCACCAATACG	0.502000													60	91					2.44813e-32	3.25245e-32	0.139131	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032693	46032693	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:46032693C>T	ENST00000334662.2	+	1	698	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	226	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.P226S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						tgtgcctgtcccctcctgttg	0.716000													62	73					0	0	0.139131	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476285	42476285	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42476285T>A	ENST00000434000.1	-	9	3208	c.2926A>T	c.(2926-2928)Aga>Tga	p.R976*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R1054*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1054	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TCATCTCCTCTGCCATCATCT	0.537000													55	65					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179583155	179583155	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:179583155G>T	ENST00000589042.1	-	85	24902	c.24678C>A	c.(24676-24678)acC>acA	p.T8226T	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T6982T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T7909T|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7909	Ig-like 64.						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)			TTTCCAGTATGGTAGATTTTT	0.418000													49	62					2.13384e-23	2.64989e-23	0.139131	1	0
KIF1C	10749	broad.mit.edu	37	17	4908161	4908161	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:4908161G>A	ENST00000320785.5	+	13	1388	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	344					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	p.R344H(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TATGCTGACCGCACCAAGCAA	0.612000													4	222					0	0	0.184627	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:140723683C>G	ENST00000253812.6	+	1	83	c.83C>G	c.(82-84)tCc>tGc	p.S28C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	194	70					0	0	0.139131	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603501	101603501	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:101603501G>A	ENST00000536262.2	-	1	684	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	42					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGTCCTTGGAGGTCTGCT	0.657000													25	38					0	0	0.099896	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104478565	104478565	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:104478565G>A	ENST00000372582.1	+	4	1176	c.420G>A	c.(418-420)ctG>ctA	p.L140L	IL1RAPL2_ENST00000344799.4_Silent_p.L140L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	140					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AATCAGGCCTGTGCTACAACA	0.403000													152	39					0	0	0.139131	0	0
CATSPERD	257062	broad.mit.edu	37	19	5727297	5727297	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:5727297C>A	ENST00000381624.3	+	3	206	c.145C>A	c.(145-147)Cct>Act	p.P49T	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	49						integral to membrane											GTATTTTCATCCTACAACAAC	0.308000													61	76					9.04393e-38	1.25567e-37	0.139131	1	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													3	172					0	0	0.150653	0	0
POM121L12	285877	broad.mit.edu	37	7	53103882	53103882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:53103882G>T	ENST00000408890.4	+	1	534	c.518G>T	c.(517-519)tGc>tTc	p.C173F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	173										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGGACCCCTGCACCCGGGAG	0.716000													21	28					6.21321e-17	7.17848e-17	0.264190	1	0
PLXNA4	91584	broad.mit.edu	37	7	131853075	131853075	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131853075A>T	ENST00000359827.3	-	22	5236	c.4274T>A	c.(4273-4275)cTg>cAg	p.L1425Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1425Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1425						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCTGAGCAGCAGCTTAGGGTG	0.612000													9	13					0	0	0.047766	0	0
MED12L	116931	broad.mit.edu	37	3	151129183	151129183	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:151129183G>A	ENST00000474524.1	+	39	5961	c.5923G>A	c.(5923-5925)Gca>Aca	p.A1975T	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1975	Gln-rich.				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)			CTATCCGGCCGCACATTCCAA	0.572000													6	393					0	0	0.248553	0	0
TLN1	7094	broad.mit.edu	37	9	35717418	35717418	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:35717418C>A	ENST00000314888.9	-	19	2536	c.2183G>T	c.(2182-2184)aGc>aTc	p.S728I	TLN1_ENST00000540444.1_Missense_Mutation_p.S728I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	728					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)			GACAGGTGAGCTGATTGTAGG	0.557000													68	25					9.53695e-23	1.17308e-22	0.139131	1	0
ZFAT	57623	broad.mit.edu	37	8	135612791	135612791	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:135612791T>C	ENST00000520727.1	-	8	2626	c.2327A>G	c.(2326-2328)cAc>cGc	p.H776R	ZFAT_ENST00000520356.1_Missense_Mutation_p.H776R|ZFAT_ENST00000520214.1_Missense_Mutation_p.H776R|ZFAT_ENST00000429442.2_Missense_Mutation_p.H776R|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Missense_Mutation_p.H726R|ZFAT_ENST00000377838.3_Missense_Mutation_p.H788R	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGAATTACGTGGCGTTTAAG	0.428000													90	151					0	0	0.139131	0	0
C8B	732	broad.mit.edu	37	1	57425761	57425761	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:57425761T>A	ENST00000543257.1	-	3	591	c.25A>T	c.(25-27)Atg>Ttg	p.M9L	C8B_ENST00000371237.4_Missense_Mutation_p.M61L|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	61					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						TCAATGGGCATCAGGGTAACA	0.488000													58	83					0	0	0.139131	0	0
EPS15L1	58513	broad.mit.edu	37	19	16532206	16532206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:16532206C>A	ENST00000602009.1	-	4	1307	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	EPS15L1_ENST00000455140.2_Missense_Mutation_p.G292C|EPS15L1_ENST00000248070.6_Missense_Mutation_p.G292C|EPS15L1_ENST00000594975.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000597937.1_Missense_Mutation_p.G292C|EPS15L1_ENST00000535753.2_Missense_Mutation_p.G292C			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	292	EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTCACGTAGCCATCCAGGTCC	0.537000													57	58					3.16986e-14	3.573e-14	0.139131	1	0
DNAH8	1769	broad.mit.edu	37	6	38840416	38840416	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:38840416C>T	ENST00000359357.3	+	48	6698	c.6444C>T	c.(6442-6444)tgC>tgT	p.C2148C	DNAH8_ENST00000441566.1_Silent_p.C2112C|DNAH8_ENST00000449981.2_Silent_p.C2365C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACAGAATGCGGAAGGCCTC	0.483000													66	106					0	0	0.139131	0	0
PRDM9	56979	broad.mit.edu	37	5	23526959	23526959	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:23526959G>C	ENST00000296682.3	+	11	1944	c.1762G>C	c.(1762-1764)Ggc>Cgc	p.G588R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	588					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						GTGTGGGCGGGGCTTTAGCTG	0.607000										HNSCC(3;0.000094)			46	157					0	0	0.139131	0	0
SORCS1	114815	broad.mit.edu	37	10	108427560	108427560	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:108427560G>T	ENST00000263054.6	-	17	2197	c.2189_splice	c.e17-1	p.C730_splice	SORCS1_ENST00000369698.1_Splice_Site_p.C265_splice|SORCS1_ENST00000344440.6_Splice_Site_p.C730_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	730						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCATAGTCGCTGTTAGGAA	0.453000													21	4					2.32416e-17	2.69004e-17	0.249174	1	0
ZNF493	284443	broad.mit.edu	37	19	21607279	21607279	+	Silent	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:21607279T>C	ENST00000392288.2	+	4	1927	c.1818T>C	c.(1816-1818)tgT>tgC	p.C606C	ZNF493_ENST00000355504.4_Silent_p.C478C|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTGAAGAATGTGGCAAAGCTT	0.333000													25	39					0	0	0.264190	0	0
TCF7	6932	broad.mit.edu	37	5	133481891	133481891	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:133481891G>T	ENST00000378560.4	+	10	900		c.e10-1		TCF7_ENST00000321603.6_Splice_Site|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000520958.1_Intron|TCF7_ENST00000342854.5_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000395029.1_Intron	NM_201634.3	NP_963965.1	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)						cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGTTTACAGATAACTCTCT	0.502000											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	97	33					1.63549e-45	2.38862e-45	0.139131	1	0
PHF21A	51317	broad.mit.edu	37	11	45970965	45970965	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:45970965G>A	ENST00000257821.4	-	12	1838	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	PHF21A_ENST00000527753.1_5'UTR|PHF21A_ENST00000323180.6_Silent_p.V405V|PHF21A_ENST00000418153.2_Silent_p.V404V	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	404					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTGGCTCAAAGACTGCTCCAC	0.458000													103	540					0	0	0.139131	0	0
CCDC57	284001	broad.mit.edu	37	17	80159756	80159756	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:80159756C>T	ENST00000392347.1	-	2	101	c.65G>A	c.(64-66)aGg>aAg	p.R22K	CCDC57_ENST00000392343.3_Missense_Mutation_p.R22K|CCDC57_ENST00000389641.4_Missense_Mutation_p.R22K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	22										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGCAGCGCCCTCCACTCCTC	0.657000													13	34					0	0	0.083992	0	0
RHPN2	85415	broad.mit.edu	37	19	33482784	33482784	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:33482784A>T	ENST00000254260.3	-	13	1624	c.1589T>A	c.(1588-1590)tTg>tAg	p.L530*	RHPN2_ENST00000400226.4_Nonsense_Mutation_p.L379*	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	530	PDZ.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GTTCCCTCTCAAGGTGAACCC	0.537000													46	90					0	0	0.131918	0	0
SHANK2	22941	broad.mit.edu	37	11	70333064	70333064	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:70333064C>A	ENST00000338508.4	-	32	3336	c.3337G>T	c.(3337-3339)Gtg>Ttg	p.V1113L	SHANK2_ENST00000409161.1_Missense_Mutation_p.V516L|SHANK2_ENST00000423696.2_Missense_Mutation_p.V733L|SHANK2_ENST00000449833.2_Missense_Mutation_p.V517L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	733					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)			CCCAGGCCCACATCCTCATCC	0.692000													38	846					5.43694e-19	6.40746e-19	0.225048	1	0
TRIM47	91107	broad.mit.edu	37	17	73871028	73871028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:73871028C>A	ENST00000254816.2	-	6	1479	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	TRIM47_ENST00000587339.1_Nonsense_Mutation_p.E247*	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	485	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATCTCCACCTCCCAGTAGTAG	0.647000													50	68					5.39261e-20	6.39015e-20	0.139131	1	0
LAMA4	3910	broad.mit.edu	37	6	112443312	112443312	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:112443312G>A	ENST00000230538.7	-	32	4777	c.4380C>T	c.(4378-4380)tcC>tcT	p.S1460S	LAMA4_ENST00000389463.4_Silent_p.S1453S|LAMA4_ENST00000424408.2_Silent_p.S1453S|LAMA4_ENST00000522006.1_Silent_p.S1453S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1460					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGGGCTGTTGGAAAGGTGGC	0.453000													80	115					0	0	0.139131	0	0
DDX28	55794	broad.mit.edu	37	16	68056395	68056395	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:68056395C>A	ENST00000332395.5	-	1	1375	c.711G>T	c.(709-711)ctG>ctT	p.L237L		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	237	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GGCCTCCCTCCAGGTCCCGCA	0.657000													30	8					7.68411e-24	9.61629e-24	0.134883	1	0
DOCK10	55619	broad.mit.edu	37	2	225659685	225659685	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:225659685C>T	ENST00000409592.3	-	45	5160	c.5047G>A	c.(5047-5049)Gca>Aca	p.A1683T	DOCK10_ENST00000258390.7_Missense_Mutation_p.A1689T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1689	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TAGGAGTTTGCCAGGCTGTAC	0.517000													5	275					0	0	0.184627	0	0
FRG2B	441581	broad.mit.edu	37	10	135438990	135438990	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:135438990C>T	ENST00000443774.1	-	4	502	c.453G>A	c.(451-453)agG>agA	p.R151R	FRG2B_ENST00000425520.1_Silent_p.R150R			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGTGCAAGCCCTGGAACGTC	0.527000													11	178					0	0	0.219247	0	0
MGAM	8972	broad.mit.edu	37	7	141803074	141803074	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:141803074G>A	ENST00000475668.2	+	70	8073	c.8019G>A	c.(8017-8019)acG>acA	p.T2673T	MGAM_ENST00000549489.2_Silent_p.T1777T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1777					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)	AACAGAATACGATGCAAAGCC	0.348000													13	12					0	0	0.105934	0	0
ZNF582	147948	broad.mit.edu	37	19	56895725	56895725	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:56895725A>G	ENST00000301310.4	-	5	1219	c.1061T>C	c.(1060-1062)cTt>cCt	p.L354P	ZNF582_ENST00000586929.1_Missense_Mutation_p.L354P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ATGTCGTATAAGAGTTGAGCC	0.418000													105	135					0	0	0.139131	0	0
BRINP1	1620	broad.mit.edu	37	9	121930238	121930238	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:121930238C>T	ENST00000265922.3	-	8	1871	c.1410G>A	c.(1408-1410)cgG>cgA	p.R470R	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		470					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ACTGCTCGCTCCGCTCCGAGT	0.582000													29	62					0	0	0.125774	0	0
VPS13C	54832	broad.mit.edu	37	15	62312738	62312738	+	Splice_Site	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:62312738C>A	ENST00000261517.5	-	9	698		c.e9-1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATCAGTGACCTACCAAAGAA	0.403000													37	45					8.69298e-16	9.93703e-16	0.246493	1	0
FOLH1	2346	broad.mit.edu	37	11	49207359	49207359	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:49207359C>G	ENST00000340334.7	-	7	1011	c.643G>C	c.(643-645)Gac>Cac	p.D215H	FOLH1_ENST00000256999.2_Missense_Mutation_p.D230H|FOLH1_ENST00000533034.1_Missense_Mutation_p.D215H|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.D230H	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	230					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGCAGGGTCGGAGTAGAGA	0.458000													28	53					0	0	0.108266	0	0
SLC11A2	4891	broad.mit.edu	37	12	51388355	51388355	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:51388355G>C	ENST00000394904.3	-	11	1185	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W	SLC11A2_ENST00000262051.7_Missense_Mutation_p.S350W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S350W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S346W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S350W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S350W|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S271W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S379W	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	350					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGCCAGTGTCGAGTTATCTTT	0.403000													57	95					0	0	0.139131	0	0
IARS	3376	broad.mit.edu	37	9	95050422	95050422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:95050422G>T	ENST00000375643.3	-	3	528	c.262C>A	c.(262-264)Cat>Aat	p.H88N	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Intron|IARS_ENST00000443024.2_Missense_Mutation_p.H88N	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	88					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GGTAAGCCATGGCAATCCCAT	0.333000													62	71					9.4991e-31	1.25171e-30	0.139131	1	0
ARID3B	10620	broad.mit.edu	37	15	74865224	74865224	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:74865224G>A	ENST00000346246.5	+	3	805	c.574G>A	c.(574-576)Gat>Aat	p.D192N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTGGAGTGATGATGCAGA	0.473000													35	79					0	0	0.225048	0	0
AGAP3	116988	broad.mit.edu	37	7	150837179	150837179	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:150837179G>A	ENST00000397238.2	+	13	1780	c.1780G>A	c.(1780-1782)Gac>Aac	p.D594N	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	558	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCGACCAGACGGCCCCAG	0.607000													11	20					0	0	0.080935	0	0
NSUN3	63899	broad.mit.edu	37	3	93783304	93783304	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:93783304G>T	ENST00000314622.4	+	2	247	c.36G>T	c.(34-36)aaG>aaT	p.K12N	NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	12							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CAGAGGGGAAGCTTGCAAAAC	0.358000													30	105					2.81731e-10	3.0895e-10	0.153744	1	0
EPHA6	285220	broad.mit.edu	37	3	96706794	96706794	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:96706794C>T	ENST00000389672.5	+	3	1109	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	EPHA6_ENST00000542517.1_Silent_p.C263C|EPHA6_ENST00000470610.2_Silent_p.C357C	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	262	Fibronectin type-III 1.					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						TTGGAAGGTGCATCTGCAGTA	0.383000													57	207					0	0	0.139131	0	0
FBXL7	23194	broad.mit.edu	37	5	15936859	15936859	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:15936859A>T	ENST00000504595.1	+	4	1521	c.1040A>T	c.(1039-1041)aAg>aTg	p.K347M	FBXL7_ENST00000329673.7_Missense_Mutation_p.K335M|FBXL7_ENST00000510662.1_Missense_Mutation_p.K300M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	347					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAGATCGCCAAGCTGGAGTCC	0.657000													22	12					0	0	0.108266	0	0
GABRA2	2555	broad.mit.edu	37	4	46252334	46252334	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46252334G>A	ENST00000510861.1	-	10	1520	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	GABRA2_ENST00000514090.1_Silent_p.V449V|GABRA2_ENST00000381620.4_Silent_p.V449V|GABRA2_ENST00000356504.1_Silent_p.V449V|GABRA2_ENST00000540012.1_Silent_p.V454V|GABRA2_ENST00000507069.1_Silent_p.V509V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	449					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTCAAGGACTGACCCCTAATA	0.338000													70	23					0	0	0.139131	0	0
PON2	5445	broad.mit.edu	37	7	95034735	95034735	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:95034735C>T	ENST00000536183.1	-	9	1218	c.1035G>A	c.(1033-1035)ggG>ggA	p.G345G	PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Silent_p.G312G|PON2_ENST00000222572.3_Silent_p.G324G	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	324					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GGAGAACAGACCCATTGTTGG	0.423000													57	92					0	0	0.139131	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198642	233198642	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:233198642G>A	ENST00000325385.7	+	17	2379	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S	DIS3L2_ENST00000409307.1_Silent_p.S701S|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	701							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCACCTCGCCCATCCGCC	0.667000													58	97					0	0	0.139131	0	0
SLC24A5	283652	broad.mit.edu	37	15	48428997	48428997	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:48428997C>A	ENST00000341459.3	+	6	781	c.708C>A	c.(706-708)gcC>gcA	p.A236A	SLC24A5_ENST00000449382.2_Silent_p.A176A	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	236					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGTCTTGCCAAAGCTATGG	0.388000													28	36					4.7796e-09	5.16261e-09	0.099896	1	0
NLRP10	338322	broad.mit.edu	37	11	7982797	7982797	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:7982797T>C	ENST00000328600.2	-	2	523	c.362A>G	c.(361-363)tAc>tGc	p.Y121C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	121							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCTGGTTGTATCTGCCATT	0.557000													50	31					0	0	0.139131	0	0
RYR2	6262	broad.mit.edu	37	1	237711879	237711879	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237711879G>T	ENST00000366574.2	+	26	3372	c.3055G>T	c.(3055-3057)Ggc>Tgc	p.G1019C	RYR2_ENST00000542537.1_Missense_Mutation_p.G1003C|RYR2_ENST00000360064.6_Missense_Mutation_p.G1017C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1019	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)			CTGGACTTATGGCATCCAACA	0.428000													43	11					6.5261e-18	7.62164e-18	0.268233	1	0
TXLNB	167838	broad.mit.edu	37	6	139576740	139576740	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:139576740C>T	ENST00000358430.3	-	7	1270	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	346						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCAGCACTTTCGCCTGAAGTT	0.512000													61	80					0	0	0.139131	0	0
CEP97	79598	broad.mit.edu	37	3	101477063	101477063	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:101477063C>G	ENST00000341893.3	+	9	2365	c.1613C>G	c.(1612-1614)cCc>cGc	p.P538R	CEP97_ENST00000327230.4_Missense_Mutation_p.P538R|CEP97_ENST00000494050.1_Missense_Mutation_p.P479R			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	538	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGAAACTTCCCATGATTTTA	0.418000													90	349					0	0	0.139131	0	0
MIR520B	574473	broad.mit.edu	37	19	54204540	54204540	+	RNA	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:54204540G>T	ENST00000384989.1	+	0	60					NR_030195.1																						CCTTTTAGAGGGTTACCGTTT	0.443000													34	41					3.86903e-22	4.71424e-22	0.173368	1	0
EFR3A	23167	broad.mit.edu	37	8	132971846	132971846	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:132971846A>G	ENST00000254624.5	+	8	1016	c.791A>G	c.(790-792)cAc>cGc	p.H264R	EFR3A_ENST00000519656.1_Missense_Mutation_p.H228R|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264R	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	264						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)			TTAGATCATCACAAACTGTGG	0.279000													40	69					0	0	0.131918	0	0
WIZ	58525	broad.mit.edu	37	19	15558935	15558935	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:15558935C>A	ENST00000389282.4	-	2	397	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	WIZ_ENST00000263381.6_Missense_Mutation_p.D62Y			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	62						nucleus	zinc ion binding			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						CCTCTGCCATCCAGAATGTCT	0.627000													88	135					7.22319e-40	1.02039e-39	0.139131	1	0
ATRNL1	26033	broad.mit.edu	37	10	117045743	117045743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:117045743G>T	ENST00000355044.3	+	15	2377	c.2251G>T	c.(2251-2253)Gga>Tga	p.G751*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	751	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTGTGGAGAAGGATGGAGTCA	0.313000													35	14					1.15505e-17	1.34168e-17	0.111260	1	0
CCDC50	152137	broad.mit.edu	37	3	191078925	191078925	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:191078925C>T	ENST00000392455.3	+	4	905	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	CCDC50_ENST00000392456.3_Missense_Mutation_p.R103C	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	103						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAGAGACGACGCATTCAGGA	0.433000													31	171					0	0	0.173368	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442530	22442530	+	Splice_Site	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:22442530G>A	ENST00000265810.4	+	4	431	c.315_splice	c.e4-1	p.G106_splice	PDLIM2_ENST00000409417.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000308354.7_Splice_Site_p.G356_splice|PDLIM2_ENST00000409141.1_Splice_Site_p.G106_splice|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397760.4_Splice_Site_p.G106_splice|PDLIM2_ENST00000397761.2_Splice_Site_p.G106_splice|PDLIM2_ENST00000339162.7_Splice_Site_p.G106_splice	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	106						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTCTCCACAGGGCTCCGTGAG	0.637000													88	127					0	0	0.139131	0	0
DDX42	11325	broad.mit.edu	37	17	61893008	61893008	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:61893008G>T	ENST00000578681.1	+	17	2589	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	DDX42_ENST00000389924.2_Missense_Mutation_p.R663L|DDX42_ENST00000359353.5_Missense_Mutation_p.R544L|DDX42_ENST00000583590.1_Missense_Mutation_p.R663L|DDX42_ENST00000457800.2_Missense_Mutation_p.R663L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	663					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TACAGGGAGCGGCCTGGCCTG	0.463000													47	101					2.74695e-27	3.5404e-27	0.139131	1	0
OR2G6	391211	broad.mit.edu	37	1	248685252	248685252	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248685252A>T	ENST00000343414.4	+	1	337	c.305A>T	c.(304-306)tAt>tTt	p.Y102F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCCAGCTCTATGTGGCCATG	0.537000													127	19					0	0	0.139131	0	0
ZMYM1	79830	broad.mit.edu	37	1	35578906	35578906	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:35578906G>A	ENST00000373330.1	+	11	1649	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.R492K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	492						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCTGTGGAAGAGAGTCATTT	0.348000													57	107					0	0	0.139131	0	0
CUBN	8029	broad.mit.edu	37	10	17142060	17142060	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:17142060G>A	ENST00000377833.4	-	14	1774	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	570	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAATGTTCAGAATAGAGATG	0.418000													105	36					0	0	0.139131	0	0
LIPG	9388	broad.mit.edu	37	18	47108775	47108775	+	Silent	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:47108775C>T	ENST00000261292.4	+	7	1358	c.1080C>T	c.(1078-1080)aaC>aaT	p.N360N	LIPG_ENST00000427224.2_Silent_p.N286N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	360	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GTTACAAGAACATGGGAGAAA	0.443000													43	89					0	0	0.246493	0	0
OR14I1	401994	broad.mit.edu	37	1	248845040	248845040	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:248845040T>A	ENST00000342623.3	-	1	589	c.566A>T	c.(565-567)gAg>gTg	p.E189V		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAGAAAACCTCACAGGAAAC	0.483000													60	14					0	0	0.139131	0	0
PKHD1	5314	broad.mit.edu	37	6	51890864	51890864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:51890864C>T	ENST00000371117.3	-	32	4019	c.3744G>A	c.(3742-3744)tgG>tgA	p.W1248*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W1248*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1248	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTTTCACACCAGATGCTCG	0.597000													44	57					0	0	0.117977	0	0
OCEL1	79629	broad.mit.edu	37	19	17337113	17337113	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:17337113G>C	ENST00000215061.4	+	1	101	c.57G>C	c.(55-57)caG>caC	p.Q19H	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.Q19H	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	19										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGGAGCTCCAGACGCTGGGAC	0.692000													3	12					0	0	0.150653	0	0
CNBD1	168975	broad.mit.edu	37	8	88363947	88363947	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:88363947G>T	ENST00000518476.1	+	9	1128	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	359										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTCTTTTGTGGGTTATATTA	0.264000													5	8					5.9392e-07	6.30979e-07	0.217242	1	0
VPS8	23355	broad.mit.edu	37	3	184675175	184675175	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:184675175G>T	ENST00000437079.3	+	37	3220	c.3049G>T	c.(3049-3051)Gta>Tta	p.V1017L	VPS8_ENST00000446204.2_Missense_Mutation_p.V925L|VPS8_ENST00000436792.2_Missense_Mutation_p.V1015L|VPS8_ENST00000287546.4_Missense_Mutation_p.V1017L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1017							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGGTATTCATGTAAATCAAGA	0.333000													9	60					3.09899e-07	3.31412e-07	0.047766	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													6	404					0	0	0.038147	0	0
SOX30	11063	broad.mit.edu	37	5	157078182	157078182	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:157078182A>G	ENST00000265007.6	-	1	1246	c.905T>C	c.(904-906)cTg>cCg	p.L302P	SOX30_ENST00000311371.5_Missense_Mutation_p.L302P|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	302					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGCTCCAGTAGGGACTG	0.532000													4	166					0	0	0.184627	0	0
HDX	139324	broad.mit.edu	37	X	83616510	83616510	+	Silent	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:83616510C>G	ENST00000297977.5	-	5	1527	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	HDX_ENST00000373177.2_Silent_p.V472V|HDX_ENST00000506585.2_Silent_p.V414V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	472						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATTCAGTTGCCACAGCTTCAA	0.393000													27	8					0	0	0.134883	0	0
NDC80	10403	broad.mit.edu	37	18	2610796	2610796	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:2610796G>A	ENST00000261597.4	+	16	1909	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	576	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAAGAAAGACGAAAAGTGGGA	0.378000													85	132					0	0	0.139131	0	0
LPPR5	163404	broad.mit.edu	37	1	99387542	99387542	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:99387542A>C	ENST00000370188.3	-	4	1054	c.694T>G	c.(694-696)Tgt>Ggt	p.C232G	LPPR5_ENST00000263177.4_Missense_Mutation_p.C232G	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		232						integral to membrane	hydrolase activity										AATGCCAAACACATTAAGCCC	0.378000													67	77					0	0	0.139131	0	0
FANCF	2188	broad.mit.edu	37	11	22646835	22646835	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:22646835C>A	ENST00000327470.3	-	1	552	c.522G>T	c.(520-522)ctG>ctT	p.L174L		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	174					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CCACCTCCTGCAGACGCTCCA	0.602000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	175					0.150653	0.152301	0.150653	1	0
RIN1	9610	broad.mit.edu	37	11	66103108	66103108	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:66103108T>A	ENST00000311320.4	-	4	554	c.428A>T	c.(427-429)cAg>cTg	p.Q143L	RIN1_ENST00000424433.2_Missense_Mutation_p.Q38L|RIN1_ENST00000530056.1_Missense_Mutation_p.Q38L|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	143	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						ACAGATGAGCTGGACTAGGTC	0.642000													19	20					0	0	0.204396	0	0
CLSTN3	9746	broad.mit.edu	37	12	7294733	7294733	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:7294733A>T	ENST00000537408.1	+	9	2112	c.1574A>T	c.(1573-1575)cAa>cTa	p.Q525L	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q513L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	513					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GACACCACCCAAGGTACTCCG	0.458000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	20					0	0	0.047766	0	0
SGIP1	84251	broad.mit.edu	37	1	67155877	67155877	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:67155877G>T	ENST00000371037.4	+	17	1525	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	SGIP1_ENST00000371035.3_Missense_Mutation_p.R273I|SGIP1_ENST00000371036.3_Missense_Mutation_p.R283I|SGIP1_ENST00000371039.1_Missense_Mutation_p.R284I|SGIP1_ENST00000237247.6_Missense_Mutation_p.R514I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	483	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTACAGTCCAGACCTTTTAGC	0.443000													87	167					1.29045e-55	1.95532e-55	0.139131	1	0
CDH10	1008	broad.mit.edu	37	5	24505268	24505268	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:24505268C>A	ENST00000264463.4	-	8	1853	c.1346G>T	c.(1345-1347)cGt>cTt	p.R449L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	449	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R449L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATAGTTCACGGTCAAGAGG	0.328000										HNSCC(23;0.051)			31	105					4.02929e-09	4.35945e-09	0.153744	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588885	33588885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:33588885G>T	ENST00000504830.1	-	18	3019	c.2684C>A	c.(2683-2685)tCg>tAg	p.S895*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.S810*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	895	TSP type-1 3.				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						GCATGTCGCCGAGCATGCTTC	0.582000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	115					5.34276e-22	6.47334e-22	0.139131	1	0
PCDH15	65217	broad.mit.edu	37	10	55600188	55600188	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr10:55600188C>A	ENST00000373965.2	-	30	4290	c.3896G>T	c.(3895-3897)cGc>cTc	p.R1299L	PCDH15_ENST00000395438.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1292L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1255L|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1292L|PCDH15_ENST00000409834.1_Missense_Mutation_p.R903L|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1221L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1299L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1270L|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1292L|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1297L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1292					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)				TCCATGCCGGCGAGCTCCAAT	0.448000										HNSCC(58;0.16)			76	15					5.32961e-40	7.54542e-40	0.139131	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292722	102292722	+	RNA	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:102292722C>G	ENST00000561463.1	+	0	768																											CGCGTGGGAACAAGGAGACAC	0.592000													11	38					0	0	0.105934	0	0
RGPD3	653489	broad.mit.edu	37	2	107042508	107042508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:107042508G>T	ENST00000409886.3	-	19	2729	c.2642C>A	c.(2641-2643)tCa>tAa	p.S881*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S881*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	881					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATATGCTGGTGACTGACTATA	0.308000													38	153					1.32667e-27	1.71671e-27	0.139131	1	0
GABRA4	2557	broad.mit.edu	37	4	46930523	46930523	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:46930523C>G	ENST00000264318.3	-	9	2366	c.1384G>C	c.(1384-1386)Gga>Cga	p.G462R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	462					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCATATATCCAGTTCGGATA	0.473000													68	18					0	0	0.139131	0	0
PAX1	5075	broad.mit.edu	37	20	21687579	21687579	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr20:21687579G>T	ENST00000398485.2	+	2	844	c.790G>T	c.(790-792)Ggc>Tgc	p.G264C	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.G240C	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	264					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTCGCCCACGGGCGCCAAGAT	0.697000													47	43					1.65492e-34	2.24002e-34	0.139131	1	0
DNAH9	1770	broad.mit.edu	37	17	11607761	11607761	+	Splice_Site	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:11607761T>C	ENST00000262442.3	+	25	5459		c.e25+2		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						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)		GCTCAGAAGGTGGGTCCCAAA	0.522000													28	55					0	0	0.125774	0	0
OR52B6	340980	broad.mit.edu	37	11	5602862	5602862	+	Silent	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:5602862C>A	ENST00000345043.2	+	1	756	c.756C>A	c.(754-756)gcC>gcA	p.A252A	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAAGATGCCCGCTCCAAGG	0.507000													146	50					2.72662e-46	4.00027e-46	0.139131	1	0
TEP1	7011	broad.mit.edu	37	14	20846329	20846329	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr14:20846329C>G	ENST00000262715.5	-	39	5615	c.5575G>C	c.(5575-5577)Gtg>Ctg	p.V1859L	TEP1_ENST00000556935.1_Missense_Mutation_p.V1751L|TEP1_ENST00000545983.1_Missense_Mutation_p.V197L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1859					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)		AGCCGGCCCACAGCCACAACC	0.622000													47	15					0	0	0.139131	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14417547	14417547	+	RNA	SNP	C	C	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr21:14417547C>G	ENST00000507941.1	+	0	159																											GGAATTTTTACTGACAAAAAA	0.303000													11	19					0	0	0.069234	0	0
MUC16	94025	broad.mit.edu	37	19	9007503	9007503	+	Silent	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:9007503G>T	ENST00000397910.4	-	43	39668	c.39465C>A	c.(39463-39465)ccC>ccA	p.P13155P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13157					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						GGCTGGGGACGGGGGATGGAG	0.463000													13	32					3.32936e-07	3.54876e-07	0.175082	1	0
RYR2	6262	broad.mit.edu	37	1	237670115	237670115	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:237670115G>T	ENST00000366574.2	+	23	3035		c.e23+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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)			GTATGGTCCGGTATGTAATTT	0.368000													15	22					2.61681e-11	2.89911e-11	0.119110	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618582	77618582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:77618582C>A	ENST00000521891.2	+	2	2707	c.2259C>A	c.(2257-2259)tgC>tgA	p.C753*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C753*|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	753						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)			TCAGTGGCTGCGGAACACCCT	0.527000										HNSCC(33;0.089)			21	19					0.000375601	0.000388201	0.264190	1	0
LINGO1	84894	broad.mit.edu	37	15	77907035	77907035	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr15:77907035T>A	ENST00000355300.6	-	2	1388	c.1214A>T	c.(1213-1215)aAg>aTg	p.K405M	LINGO1_ENST00000561030.1_Missense_Mutation_p.K399M	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	405	LRRCT.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTGAACTCCTTGCCCTGGAC	0.662000													7	11					0	0	0.248553	0	0
ZNF578	147660	broad.mit.edu	37	19	53013842	53013842	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr19:53013842A>T	ENST00000421239.2	+	6	452	c.208A>T	c.(208-210)Atg>Ttg	p.M70L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTCCAAACGCATGATGAAGGA	0.368000													111	214					0	0	0.139131	0	0
C16orf70	80262	broad.mit.edu	37	16	67168322	67168322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:67168322C>T	ENST00000219139.3	+	8	801	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Nonsense_Mutation_p.R205*	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGATGTTCTTCGAGATGGAAC	0.512000													246	77					0	0	0.139131	0	0
FAM184A	79632	broad.mit.edu	37	6	119338048	119338048	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:119338048T>C	ENST00000338891.7	-	5	1837	c.1394A>G	c.(1393-1395)cAa>cGa	p.Q465R	FAM184A_ENST00000352896.5_Missense_Mutation_p.Q345R|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q345R|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q345R|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q465R|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	465										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAATCTACTTTGCAGGTTTTT	0.373000													54	81					0	0	0.139131	0	0
ZFR	51663	broad.mit.edu	37	5	32420208	32420208	+	Splice_Site	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr5:32420208G>T	ENST00000265069.8	-	3	240	c.137_splice	c.e3-1	p.S46_splice		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	46	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGGCTGCTGGCTACATTGTG	0.398000													10	33					2.17888e-05	2.27376e-05	0.058154	1	0
RUNX1T1	862	broad.mit.edu	37	8	92982970	92982970	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:92982970C>A	ENST00000523629.1	-	11	1909	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.K458N|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.K485N|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.K448N|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.K496N|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.K448N	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)	485					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)			TGCGCTCCATCTTGGCCCTCT	0.617000													43	64					3.54909e-21	4.26022e-21	0.124865	1	0
AFF3	3899	broad.mit.edu	37	2	100625330	100625330	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:100625330G>T	ENST00000317233.4	-	4	353	c.118C>A	c.(118-120)Caa>Aaa	p.Q40K	AFF3_ENST00000409236.1_Missense_Mutation_p.Q40K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q65K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q65K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	40					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCATCCTGTTGAGTTTCTTGA	0.403000													18	26					3.32936e-07	3.54876e-07	0.175082	1	0
TMEM150A	129303	broad.mit.edu	37	2	85829067	85829067	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:85829067G>T	ENST00000409668.1	-	1	472	c.5C>A	c.(4-6)aCc>aAc	p.T2N	TMEM150A_ENST00000334462.5_Missense_Mutation_p.T2N|TMEM150A_ENST00000306353.3_5'UTR			Q86TG1	T150A_HUMAN	transmembrane protein 150A	2						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GATCCAGGCGGTCATGAGGGA	0.612000													168	257					1.85097e-90	2.85137e-90	0.139131	1	0
COG2	22796	broad.mit.edu	37	1	230827172	230827172	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:230827172G>A	ENST00000534989.1	+	17	2135	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	COG2_ENST00000366668.3_Silent_p.K658K|COG2_ENST00000535166.1_Silent_p.K543K|COG2_ENST00000366669.4_Silent_p.K659K|COG2_ENST00000546013.1_Silent_p.K348K			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	659					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGTGAAGAAGATGGAAGAGA	0.463000													62	7					0	0	0.139131	0	0
HOXD8	3234	broad.mit.edu	37	2	176995440	176995440	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:176995440C>A	ENST00000313173.4	+	1	973	c.346C>A	c.(346-348)Ccg>Acg	p.P116T	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.P116T|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.P116T	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	116	Poly-Pro.				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		tccgcatcctccgcctccgcc	0.692000													77	90					2.36143e-25	2.98991e-25	0.139131	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898848	112898848	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:112898848G>T	ENST00000374530.3	+	8	1204	c.1024G>T	c.(1024-1026)Gca>Tca	p.A342S	AKAP2_ENST00000510514.5_Missense_Mutation_p.A342S|AKAP2_ENST00000259318.7_Missense_Mutation_p.A111S|AKAP2_ENST00000434623.2_Missense_Mutation_p.A200S|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A342S|AKAP2_ENST00000555236.1_Missense_Mutation_p.A342S|AKAP2_ENST00000374525.1_Missense_Mutation_p.A200S	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		111							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TAGCCGGCAGGCACCTCCTCA	0.622000													58	66					1.31171e-36	1.81729e-36	0.139131	1	0
FRMPD3	84443	broad.mit.edu	37	X	106843936	106843936	+	Silent	SNP	G	G	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:106843936G>A	ENST00000276185.4	+	16	2766	c.2766G>A	c.(2764-2766)aaG>aaA	p.K922K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	922						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTGAACAGAAGAATCTGAGTC	0.577000													7	3					0	0	0.248553	0	0
PRG2	5553	broad.mit.edu	37	11	57156719	57156719	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:57156719G>T	ENST00000311862.5	-	3	203	c.130C>A	c.(130-132)Cag>Aag	p.Q44K	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.Q149K|PRG2_ENST00000533605.1_Missense_Mutation_p.Q44K|PRG2_ENST00000525955.1_Missense_Mutation_p.Q44K	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		TCCATCTCCTGCTCTGGTGTC	0.562000													74	86					4.60868e-44	6.67073e-44	0.139131	1	0
PLXNA4	91584	broad.mit.edu	37	7	131913220	131913220	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr7:131913220C>A	ENST00000359827.3	-	6	2575	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R538L			Q9HCM2	PLXA4_HUMAN	plexin A4	538	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCTCCTTCCGGGTGCAACT	0.607000													34	48					2.87052e-16	3.29295e-16	0.225048	1	0
FGA	2243	broad.mit.edu	37	4	155507095	155507095	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr4:155507095C>A	ENST00000302053.3	-	5	1564	c.1486G>T	c.(1486-1488)Gat>Tat	p.D496Y	FGA_ENST00000403106.3_Missense_Mutation_p.D496Y	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	496					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGCCTAAATCCATTGCCTCG	0.473000													87	33					9.37156e-40	1.321e-39	0.139131	1	0
TMEM132D	121256	broad.mit.edu	37	12	129559181	129559181	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:129559181T>G	ENST00000422113.2	-	9	2865	c.2539A>C	c.(2539-2541)Atg>Ctg	p.M847L	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M385L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	847						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATGAGTCCCATAGAAGAACTG	0.527000													62	87					0	0	0.139131	0	0
UBXN11	91544	broad.mit.edu	37	1	26608878	26608883	+	In_Frame_Del	DEL	CCGGGA	CCGGGA	-	rs1134580		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:26608878_26608883delCCGGGA	ENST00000314675.7	-	11	1189_1194	c.1110_1115delTCCCGG	c.(1108-1116)ggc>gg	p.GPG370del	UBXN11_ENST00000374221.3_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374217.2_In_Frame_Del_p.GPG457del|UBXN11_ENST00000374222.1_In_Frame_Del_p.GPG490del|UBXN11_ENST00000374223.1_In_Frame_Del_p.GPG247del|UBXN11_ENST00000357089.4_In_Frame_Del_p.GPG457del	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	490						cytoplasm|cytoskeleton		p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gggactggggccgggaccgggaccgg	0.718													9	110	---	---	---	---					
GNL2	29889	broad.mit.edu	37	1	38039946	38039946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:38039946delG	ENST00000373062.3	-	12	1512	c.1414delC	c.(1414-1416)agfs	p.Q472fs		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	472					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCTCTTACCTGGGGGGCCACA	0.542													16	23	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143209383	143209384	+	RNA	INS	-	-	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr1:143209383_143209384insT	ENST00000412204.2	-	0	1641				RP11-782C8.1_ENST00000438000.1_lincRNA																							AAATGTTTAAATTTTCTTTCCA	0.277													13	7	---	---	---	---					
HOXD4	3233	broad.mit.edu	37	2	177016671	177016671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:177016671delC	ENST00000306324.3	+	1	722	c.310delC	c.(310-312)cgfs	p.P104fs	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	104						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ggcgcctccgccggcgcccct	0.756													16	22	---	---	---	---					
ZSWIM2	151112	broad.mit.edu	37	2	187703843	187703844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr2:187703843_187703844insC	ENST00000295131.2	-	4	375_376	c.336_337insG	c.(334-339)ggtacafs	p.T113fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	113					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTCGATGTATCCCCCGAAGCA	0.391													111	214	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43474181	43474181	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr3:43474181delG	ENST00000292246.3	-	12	2006	c.1836delC	c.(1834-1836)gcfs	p.A612fs	ANO10_ENST00000451430.2_Frame_Shift_Del_p.A501fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.A422fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.A546fs|ANO10_ENST00000414522.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	612					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TATCAGGTATGGCAAATGCAA	0.423													59	18	---	---	---	---					
ITPR3	3710	broad.mit.edu	37	6	33657174	33657175	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr6:33657174_33657175insG	ENST00000374316.5	+	51	7914_7915	c.6854_6855insG	c.(6853-6855)cggfs	p.R2285fs	ITPR3_ENST00000605930.1_Frame_Shift_Ins_p.R2285fs			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2285					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						CTCAACATCCTGGGTGCCCTCA	0.614													38	73	---	---	---	---					
AC022182.1	0	broad.mit.edu	37	8	61851312	61851312	+	RNA	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:61851312delC	ENST00000527672.1	+	0	323																											TTGGTATCAACCCCATCTCCA	0.483													13	25	---	---	---	---					
JPH1	56704	broad.mit.edu	37	8	75233335	75233340	+	In_Frame_Del	DEL	TAGCCC	TAGCCC	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr8:75233335_75233340delTAGCCC	ENST00000342232.4	-	1	223_228	c.183_188delGGGCTA	c.(181-189)cac>ca	p.QGY61del		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	61	Gly-rich.				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)			CTGCGCCCAGTAGCCCTGGTAGGTGT	0.684													11	41	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21968233	21968233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr9:21968233delC	ENST00000304494.5	-	3	736	c.466delG	c.(466-468)atfs	p.D156fs	CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.D105fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.D105fs|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	156					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.?(4)|p.0(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)		TTCTTTCAATCGGGGATGTCT	0.562		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	14	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													7	60	---	---	---	---					
LOC100507384	100507384	broad.mit.edu	37	11	45764950	45764965	+	RNA	DEL	AAGGAAGGAAGGAAGA	AAGGAAGGAAGGAAGA	-	rs71894726	by1000genomes	TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:45764950_45764965delAAGGAAGGAAGGAAGA	ENST00000529769.1	+	0	656																											ggaaggaaggaaggaaggaaggaagagagagagaga	0.481													3	4	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64533489	64533490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr11:64533489_64533490insG	ENST00000377390.3	-	13	2057_2058	c.1720_1721insC	c.(1720-1722)gccfs	p.A574fs	SF1_ENST00000433274.2_Frame_Shift_Ins_p.A548fs|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Frame_Shift_Ins_p.A574fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	574	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGAGGCGGCTGGACCCCGGGG	0.728													8	35	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													8	474	---	---	---	---					
RNF17	56163	broad.mit.edu	37	13	25362210	25362211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr13:25362210_25362211insA	ENST00000255324.5	+	7	748_749	c.696_697insA	c.(694-699)gaaaaafs	p.EK232fs	RNF17_ENST00000381921.1_Frame_Shift_Ins_p.EK232fs|RNF17_ENST00000255325.5_Frame_Shift_Ins_p.EK233fs|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	232					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.N235fs*3(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACATTGAAGAGAAAAAAAATAA	0.307													42	31	---	---	---	---					
CYLD	1540	broad.mit.edu	37	16	50785545	50785545	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:50785545delG	ENST00000540145.1	+	5	950	c.535delG	c.(535-537)ggfs	p.G179fs	CYLD_ENST00000564326.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000568704.2_Frame_Shift_Del_p.G179fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G179fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G179fs|CYLD_ENST00000427738.3_Frame_Shift_Del_p.G179fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G179fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	179	CAP-Gly 1.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTCACTGACGGGGTGTACCA	0.418			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				121	61	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690387	75690389	+	In_Frame_Del	DEL	CCC	CCC	-	rs75835451		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr16:75690387_75690389delCCC	ENST00000300086.4	+	3	1175_1177	c.1078_1080delCCC	c.(1078-1080)del	p.P360del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	360					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATGGATATCCCATTTGGTCCC	0.453													10	266	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA	rs71838018		TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.460													4	5	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17698946	17698946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:17698946delC	ENST00000353383.1	+	3	3153	c.2684delC	c.(2683-2685)gcfs	p.A895fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.A895fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	895						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)		TCACCCAAGGCCCCACTCATC	0.652													31	47	---	---	---	---					
C17orf104	284071	broad.mit.edu	37	17	42744329	42744330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:42744329_42744330insA	ENST00000409122.2	+	5	1192_1193	c.1050_1051insA	c.(1048-1053)agaaaafs	p.RK350fs	C17orf104_ENST00000409464.1_Frame_Shift_Ins_p.RK184fs|C17orf104_ENST00000359945.3_Frame_Shift_Ins_p.RK350fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	350										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TCCAAGATAGCAAAAAATTAGC	0.347													11	22	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)gtfs	p.G472fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368													7	384	---	---	---	---					
PIGN	23556	broad.mit.edu	37	18	59821827	59821827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chr18:59821827delC	ENST00000357637.5	-	7	915	c.500delG	c.(499-501)gtfs	p.G167fs	PIGN_ENST00000400334.3_Frame_Shift_Del_p.G167fs	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	167					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ATCTTGAGCACCAAAATCCTC	0.313													77	200	---	---	---	---					
RPS6KA3	6197	broad.mit.edu	37	X	20195158	20195159	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:20195158_20195159delCT	ENST00000379565.3	-	11	1096_1097	c.889_890delAG	c.(889-891)tfs	p.S297fs	RPS6KA3_ENST00000379548.4_Frame_Shift_Del_p.S268fs|RPS6KA3_ENST00000540702.1_Frame_Shift_Del_p.S269fs|RPS6KA3_ENST00000544447.1_Frame_Shift_Del_p.S269fs	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	297	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCGTAAAAGACTCTGCGCTTCA	0.307													94	22	---	---	---	---					
SLITRK4	139065	broad.mit.edu	37	X	142717956	142717957	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-4078-01A-01D-1434-08	TCGA-BA-4078-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f02d0332-d7c8-4d2a-98ca-dbe7826437ae	adae384c-a4b5-4ce7-bb4c-cc0762d7a807	g.chrX:142717956_142717957insT	ENST00000381779.4	-	2	1193_1194	c.968_969insA	c.(967-969)acgfs	p.T323fs	SLITRK4_ENST00000356928.1_Frame_Shift_Ins_p.T323fs|SLITRK4_ENST00000338017.4_Frame_Shift_Ins_p.T323fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	323						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGATTGCGGTTGGAGAGGGC	0.465													128	29	---	---	---	---					
