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
EYS	346007	broad.mit.edu	37	6	66204988	66204988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:66204988C>T	ENST00000503581.1	-	4	853	c.316G>A	c.(316-318)Gtt>Att	p.V106I	EYS_ENST00000393380.2_Missense_Mutation_p.V106I|EYS_ENST00000370621.3_Missense_Mutation_p.V106I|EYS_ENST00000370618.3_Missense_Mutation_p.V106I|EYS_ENST00000370616.2_Missense_Mutation_p.V106I|EYS_ENST00000342421.5_Missense_Mutation_p.V106I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	106					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTTCAGAAACATTCATCAAA	0.363000													38	150					0	0	0.804634	0	0
NOBOX	135935	broad.mit.edu	37	7	144096938	144096938	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:144096938G>T	ENST00000467773.1	-	6	1065	c.1066C>A	c.(1066-1068)Cgg>Agg	p.R356R	NOBOX_ENST00000223140.5_Silent_p.R239R|NOBOX_ENST00000483238.1_Silent_p.R324R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	356					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACTTGGCCCGGCGATTCTGG	0.537000													14	33					2.31682e-05	2.49316e-05	0.479597	1	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22748992	22748992	+	RNA	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:22748992C>A	ENST00000390465.2	+	0	5																											AGGTTCAGATCAGAAGAGGAG	0.542000													41	112					4.14481e-20	5.19632e-20	0.819951	1	0
DOCK10	55619	broad.mit.edu	37	2	225651808	225651808	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:225651808T>C	ENST00000409592.3	-	50	5681	c.5568A>G	c.(5566-5568)aaA>aaG	p.K1856K	DOCK10_ENST00000258390.7_Silent_p.K1862K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1862	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)		CCTCTGCCACTTTCAGATATG	0.428000													82	87					0	0	0.870114	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240930	26240930	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26240930C>T	ENST00000377745.2	+	1	370	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	93					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGCGCTCAAGCGCCAGGGACG	0.547000													7	131					0	0	0.278610	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261436	67261436	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:67261436G>A	ENST00000356404.3	-	20	3190	c.2965C>T	c.(2965-2967)Cgc>Tgc	p.R989C	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R988C|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R989C	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	989					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCAGCGCGCGTTCTGGGGGA	0.682000													9	20					0	0	0.307466	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748462	139748462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:139748462C>T	ENST00000445819.1	+	6	654	c.604C>T	c.(604-606)Cga>Tga	p.R202*	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Nonsense_Mutation_p.R202*			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	202	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCTGCCACCCGAAATGCCAC	0.622000													25	122					0	0	0.693898	0	0
OR4C16	219428	broad.mit.edu	37	11	55339627	55339627	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55339627T>C	ENST00000314634.3	+	1	24	c.24T>C	c.(22-24)acT>acC	p.T8T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATAATGTGACTGAGTTCATTC	0.378000													5	115					0	0	0.335167	0	0
LYG1	129530	broad.mit.edu	37	2	99909015	99909015	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:99909015G>T	ENST00000409448.1	-	5	448	c.132C>A	c.(130-132)caC>caA	p.H44Q	LYG1_ENST00000308528.4_Missense_Mutation_p.H44Q			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	44					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGTTCAGGCCGTGACGTCTTC	0.517000													26	115					2.41591e-17	2.95419e-17	0.681144	1	0
FGF2	2247	broad.mit.edu	37	4	123748456	123748456	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123748456A>T	ENST00000264498.3	+	1	594	c.526A>T	c.(526-528)Atc>Ttc	p.I176F		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	176					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTTCCTGCGCATCCACCCCGA	0.667000													18	49					0	0	0.575678	0	0
GRM5	2915	broad.mit.edu	37	11	88386571	88386571	+	Splice_Site	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:88386571A>T	ENST00000418177.2	-	4	1279	c.911_splice	c.e4-1	p.S304_splice	GRM5_ENST00000305432.5_Splice_Site_p.S304_splice|GRM5_ENST00000305447.4_Splice_Site_p.S304_splice|GRM5_ENST00000393297.1_Splice_Site_p.S304_splice|GRM5_ENST00000455756.2_Splice_Site_p.S304_splice			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	304					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)	CCCAGCCATCACTGTGGGGAA	0.433000													28	30					0	0	0.729181	0	0
PCDH15	65217	broad.mit.edu	37	10	56106239	56106239	+	Silent	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56106239A>T	ENST00000373965.2	-	6	874	c.480T>A	c.(478-480)acT>acA	p.T160T	PCDH15_ENST00000395430.1_Silent_p.T160T|PCDH15_ENST00000414778.1_Silent_p.T165T|PCDH15_ENST00000395442.1_Silent_p.T160T|PCDH15_ENST00000361849.3_Silent_p.T160T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Silent_p.T160T|PCDH15_ENST00000395432.2_Silent_p.T160T|PCDH15_ENST00000437009.1_Silent_p.T160T|PCDH15_ENST00000395433.1_Silent_p.T138T|PCDH15_ENST00000395445.1_Silent_p.T160T|PCDH15_ENST00000395438.1_Silent_p.T160T|PCDH15_ENST00000320301.6_Silent_p.T160T|PCDH15_ENST00000373955.1_Silent_p.T160T|PCDH15_ENST00000373957.3_Silent_p.T138T|PCDH15_ENST00000395440.1_Silent_p.T160T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	160	Cadherin 2.				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)				TACCAACTGGAGTGAGCTGAA	0.333000										HNSCC(58;0.16)			34	185					0	0	0.779181	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207776	21207776	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:21207776C>T	ENST00000342679.4	+	8	856	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	MAP2K3_ENST00000361818.5_Missense_Mutation_p.H174Y|MAP2K3_ENST00000316920.6_Missense_Mutation_p.H174Y	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	203	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CAAGGAGGGCCATGTGAAGAT	0.582000													12	108					0	0	0.457914	0	0
ZEB1	6935	broad.mit.edu	37	10	31810534	31810534	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:31810534G>C	ENST00000446923.2	+	7	2614	c.2223G>C	c.(2221-2223)caG>caC	p.Q741H	ZEB1_ENST00000320985.10_Missense_Mutation_p.Q757H|ZEB1_ENST00000361642.5_Missense_Mutation_p.Q758H|ZEB1_ENST00000560721.2_Missense_Mutation_p.Q737H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.Q690H	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	757					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGTTTACCAGAACAGTGTTT	0.418000													58	92					0	0	0.870114	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185989	127185989	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:127185989T>C	ENST00000371124.3	-	1	393	c.197A>G	c.(196-198)gAg>gGg	p.E66G		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	66						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATGTAGGGCCTCATACTTGTA	0.473000													3	202					0	0	0.115264	0	0
PAK3	5063	broad.mit.edu	37	X	110385414	110385414	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:110385414G>C	ENST00000519681.1	+	6	708	c.266G>C	c.(265-267)gGg>gCg	p.G89A	PAK3_ENST00000417227.1_Missense_Mutation_p.G89A|PAK3_ENST00000360648.4_Missense_Mutation_p.G89A|PAK3_ENST00000262836.4_Missense_Mutation_p.G89A|PAK3_ENST00000518291.1_Missense_Mutation_p.G89A|PAK3_ENST00000446737.1_Missense_Mutation_p.G89A|PAK3_ENST00000372007.4_Missense_Mutation_p.G89A|PAK3_ENST00000372010.1_Missense_Mutation_p.G89A|PAK3_ENST00000425146.1_Missense_Mutation_p.G89A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	89	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCAGTCACCGGGGAATTCACT	0.418000										TSP Lung(19;0.15)			82	80					0	0	0.870114	0	0
IPO9	55705	broad.mit.edu	37	1	201839980	201839980	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:201839980C>T	ENST00000361565.4	+	18	2472	c.2403C>T	c.(2401-2403)gtC>gtT	p.V801V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	801					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CGCTCAGTGTCATGCAGGTAA	0.498000													12	70					0	0	0.457914	0	0
RYR2	6262	broad.mit.edu	37	1	237935319	237935319	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237935319G>A	ENST00000366574.2	+	86	11882	c.11565G>A	c.(11563-11565)caG>caA	p.Q3855Q	RYR2_ENST00000360064.6_Silent_p.Q3861Q|RYR2_ENST00000542537.1_Silent_p.Q3839Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3855					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)			TAGATTTTCAGAATTATCTGA	0.343000													5	7					0	0	0.184627	0	0
GPI	2821	broad.mit.edu	37	19	34887334	34887334	+	Splice_Site	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:34887334A>T	ENST00000415930.3	+	13	1394	c.1225_splice	c.e13+1	p.Q408_splice	GPI_ENST00000586425.1_Splice_Site_p.Q397_splice|GPI_ENST00000356487.5_Splice_Site_p.Q397_splice	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	397					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCATCCACCAAGGTAGGCCCC	0.567000													44	108					0	0	0.853193	0	0
ACSM1	116285	broad.mit.edu	37	16	20682863	20682863	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:20682863A>G	ENST00000307493.4	-	4	809	c.742T>C	c.(742-744)Ttc>Ctc	p.F248L	ACSM1_ENST00000520010.1_Missense_Mutation_p.F248L|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	248					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCCTGGGAAGGAGGGTTGT	0.532000													36	76					0	0	0.804634	0	0
SGK223	157285	broad.mit.edu	37	8	8235565	8235565	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8235565G>C	ENST00000520004.1	-	3	618	c.354C>G	c.(352-354)ggC>ggG	p.G118G	SGK223_ENST00000330777.4_Silent_p.G118G			Q86YV5	SG223_HUMAN		118							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGGGAGCTTGCCAGGGGCTC	0.547000													39	145					0	0	0.840704	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794169	101794169	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:101794169G>A	ENST00000506729.1	-	6	1219	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R350C|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R288C|SLCO6A1_ENST00000379810.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	350						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGCTGTTTACGTTTCCTAGCT	0.294000													24	133					0	0	0.639603	0	0
CHD8	57680	broad.mit.edu	37	14	21863125	21863125	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:21863125C>A	ENST00000399982.2	-	29	5400	c.5336G>T	c.(5335-5337)cGt>cTt	p.R1779L	CHD8_ENST00000430710.3_Missense_Mutation_p.R1500L|CHD8_ENST00000557364.1_Missense_Mutation_p.R1779L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1779					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGCTTCACAACGCCGCCTTCG	0.498000													30	55					3.99451e-17	4.85252e-17	0.740014	1	0
LPHN3	23284	broad.mit.edu	37	4	62897294	62897294	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:62897294T>C	ENST00000512091.1	+	22	4100	c.3353T>C	c.(3352-3354)tTt>tCt	p.F1118S	LPHN3_ENST00000504896.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1177S|LPHN3_ENST00000545650.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F1186S|LPHN3_ENST00000514591.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F1109S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F1118S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1177S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1096					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGGGAATGTTTATATTTATT	0.348000													22	106					0	0	0.639603	0	0
RELN	5649	broad.mit.edu	37	7	103126772	103126772	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103126772G>T	ENST00000424685.2	-	61	10014	c.9855C>A	c.(9853-9855)acC>acA	p.T3285T	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.T3285T|RELN_ENST00000428762.1_Silent_p.T3285T			P78509	RELN_HUMAN	reelin	3285					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)		CACCTTGAATGGTCTCCCAGT	0.502000													42	136					1.23103e-26	1.59034e-26	0.864702	1	0
BBS9	27241	broad.mit.edu	37	7	33388738	33388738	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:33388738C>G	ENST00000242067.6	+	13	1909	c.1388C>G	c.(1387-1389)cCa>cGa	p.P463R	BBS9_ENST00000396127.2_Missense_Mutation_p.P463R|BBS9_ENST00000355070.2_Missense_Mutation_p.P463R|BBS9_ENST00000354265.4_Missense_Mutation_p.P463R|BBS9_ENST00000350941.3_Missense_Mutation_p.P463R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	463					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TACGTGCAACCACCATTAGAA	0.318000									Bardet-Biedl syndrome				22	134					0	0	0.654019	0	0
AKAP9	10142	broad.mit.edu	37	7	91631698	91631698	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:91631698G>A	ENST00000359028.2	+	9	2728	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E823K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E835K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	835	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAGAAATAGAAATACTTAT	0.323000			T	BRAF	papillary thyroid								46	137					0	0	0.853193	0	0
CYP27C1	339761	broad.mit.edu	37	2	127957114	127957114	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:127957114G>A	ENST00000335247.7	-	4	520	c.388_splice	c.e4-1	p.S130_splice	CYP27C1_ENST00000409327.1_Splice_Site_p.S130_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	130						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CATGAATTTGGCCTGTTTGAA	0.463000													23	31					0	0	0.608945	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505229	37505229	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:37505229G>A	ENST00000374660.1	+	38	3278	c.3179G>A	c.(3178-3180)tGt>tAt	p.C1060Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.C941Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C941Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1063						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGAAGTTTTGTGTACTGAAA	0.353000													25	103					0	0	0.667858	0	0
NARS2	79731	broad.mit.edu	37	11	78279726	78279726	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:78279726C>A	ENST00000281038.5	-	3	699	c.324G>T	c.(322-324)gtG>gtT	p.V108V	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	108					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTTCAGTTCCACATTTTGCC	0.348000													53	117					1.63038e-21	2.05921e-21	0.870114	1	0
NR3C2	4306	broad.mit.edu	37	4	149357710	149357710	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:149357710T>C	ENST00000355292.3	-	2	665	c.303A>G	c.(301-303)gtA>gtG	p.V101V	NR3C2_ENST00000512865.1_Silent_p.V101V|NR3C2_ENST00000342437.4_Silent_p.V101V|NR3C2_ENST00000344721.4_Silent_p.V101V|NR3C2_ENST00000511528.1_Silent_p.V101V|NR3C2_ENST00000358102.3_Silent_p.V101V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	101	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGACTCAGCTACAGTTGCTG	0.408000													43	166					0	0	0.840704	0	0
SLC17A6	57084	broad.mit.edu	37	11	22360160	22360160	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:22360160C>G	ENST00000263160.3	+	1	518	c.81C>G	c.(79-81)atC>atG	p.I27M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	27					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.I27I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCGGCCAGATCTACAGGTAAG	0.453000													15	32					0	0	0.479597	0	0
R3HDM1	23518	broad.mit.edu	37	2	136374308	136374308	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:136374308A>C	ENST00000264160.4	+	5	654	c.284A>C	c.(283-285)gAg>gCg	p.E95A	R3HDM1_ENST00000409606.1_Missense_Mutation_p.E95A|R3HDM1_ENST00000410054.1_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	95							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCTGCACCAGAGATATCACAG	0.368000													9	26					0	0	0.411799	0	0
DNAH7	56171	broad.mit.edu	37	2	196759837	196759837	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:196759837A>G	ENST00000312428.6	-	30	4859	c.4759T>C	c.(4759-4761)Ttc>Ctc	p.F1587L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1587	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCGGAAAAGAATGCAGTCATT	0.373000													45	60					0	0	0.853193	0	0
HFM1	164045	broad.mit.edu	37	1	91781966	91781966	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91781966A>T	ENST00000370425.3	-	26	2978	c.2880T>A	c.(2878-2880)gaT>gaA	p.D960E	HFM1_ENST00000370424.3_Missense_Mutation_p.D639E|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.D192E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	960	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTCCCTTGCATCTGTCTCTT	0.299000													48	122					0	0	0.870114	0	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:13927900T>C	ENST00000602743.1	-	0	224																											GAGCCTTTTCTGACGATGCCG	0.572000													4	70					0	0	0.278610	0	0
NPC1	4864	broad.mit.edu	37	18	21136302	21136302	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:21136302G>A	ENST00000269228.5	-	8	1785	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R161W	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	411					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGGGGCCCGGATGATGAGC	0.552000													10	52					0	0	0.335167	0	0
OR10K2	391107	broad.mit.edu	37	1	158389862	158389862	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158389862G>C	ENST00000314902.2	-	1	794	c.795C>G	c.(793-795)aaC>aaG	p.N265K		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	265					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)					TTGAGGAGTAGTTGGACTGAG	0.398000													41	96					0	0	0.859065	0	0
COX6A1	1337	broad.mit.edu	37	12	120876216	120876216	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:120876216G>T	ENST00000551806.1	+	2	67	c.67G>T	c.(67-69)Gct>Tct	p.A23S	COX6A1_ENST00000229379.2_Silent_p.A46A																							TCTTCGTCGCGCTCCCCGGGG	0.627000													38	100					2.75727e-19	3.43142e-19	0.804634	1	0
PCSK1	5122	broad.mit.edu	37	5	95764933	95764933	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:95764933A>G	ENST00000311106.3	-	2	506	c.269T>C	c.(268-270)tTa>tCa	p.L90S	PCSK1_ENST00000508626.1_Missense_Mutation_p.L43S|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	90					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCATCAGATAATCTCTTAGT	0.333000													20	144					0	0	0.654019	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141510	41141510	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141510G>C	ENST00000361677.1	+	3	822	c.810G>C	c.(808-810)ctG>ctC	p.L270L		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	270										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTGAGCAACTGAAAACTCAGA	0.478000													35	85					0	0	0.819951	0	0
NEBL	10529	broad.mit.edu	37	10	21139422	21139422	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:21139422T>C	ENST00000377122.4	-	11	1414	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	340					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TATTCTTCTTTATATTTCACC	0.318000													45	132					0	0	0.840704	0	0
HAS2	3037	broad.mit.edu	37	8	122626624	122626624	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:122626624C>T	ENST00000303924.4	-	4	1921	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	462						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GTGCCCCACCCAGCTTTGTTT	0.413000													135	281					0	0	0.870114	0	0
TRIML1	339976	broad.mit.edu	37	4	189068081	189068081	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:189068081C>A	ENST00000332517.3	+	6	1102	c.962C>A	c.(961-963)cCg>cAg	p.P321Q	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	321	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.P321Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCCGACAACCCGGAAAGATTT	0.537000													56	123					4.25531e-23	5.42846e-23	0.870114	1	0
SMARCA4	6597	broad.mit.edu	37	19	11144078	11144078	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:11144078A>G	ENST00000358026.2	+	26	3943	c.3659A>G	c.(3658-3660)tAc>tGc	p.Y1220C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Y1220C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Y1220C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1220	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCAGCCAAGTACAAGCTCAAC	0.632000			"""F, N, Mis"""		NSCLC								24	130					0	0	0.624587	0	0
AFF2	2334	broad.mit.edu	37	X	148037158	148037158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:148037158G>A	ENST00000370460.2	+	11	2062	c.1583G>A	c.(1582-1584)tGg>tAg	p.W528*	AFF2_ENST00000286437.5_Nonsense_Mutation_p.W169*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.W495*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.W495*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	528					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAACAAGTGGCAACTGGAT	0.443000													115	107					0	0	0.870114	0	0
ANKS1B	56899	broad.mit.edu	37	12	99194841	99194841	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:99194841G>T	ENST00000547776.2	-	20	3128	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	ANKS1B_ENST00000547446.1_Silent_p.T178T|ANKS1B_ENST00000341752.7_Silent_p.T49T|ANKS1B_ENST00000549558.2_Silent_p.T209T|ANKS1B_ENST00000549493.2_Silent_p.T293T|ANKS1B_ENST00000329257.7_Silent_p.T1043T|ANKS1B_ENST00000332712.7_Silent_p.T233T|ANKS1B_ENST00000550693.2_Silent_p.T233T|ANKS1B_ENST00000546960.1_Silent_p.T269T|ANKS1B_ENST00000547010.1_Silent_p.T559T|ANKS1B_ENST00000333732.7_Silent_p.T73T|ANKS1B_ENST00000546568.1_Silent_p.T209T|ANKS1B_ENST00000549025.2_Silent_p.T141T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1043						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)		ACTGTACCGGGGTAGAGGCTG	0.458000													7	14					1.76689e-08	1.97226e-08	0.335167	1	0
ABHD16A	7920	broad.mit.edu	37	6	31668718	31668718	+	Splice_Site	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:31668718C>A	ENST00000461287.1	-	6	748		c.e6+1		ABHD16A_ENST00000375842.4_Splice_Site|ABHD16A_ENST00000440843.2_Splice_Site|ABHD16A_ENST00000538874.1_Splice_Site|ABHD16A_ENST00000395952.3_Splice_Site																							TCTCCACCTACCTCGGAGGCA	0.478000													13	96					0.0167234	0.0171964	0.435327	1	0
CAMSAP3	57662	broad.mit.edu	37	19	7676418	7676418	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:7676418C>T	ENST00000446248.2	+	12	1321	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S380F	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	380					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGAAGTCTTCCCCGTCCATG	0.642000													4	49					0	0	0.217242	0	0
GSPT2	23708	broad.mit.edu	37	X	51488052	51488052	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:51488052A>C	ENST00000340438.4	+	1	1572	c.1330A>C	c.(1330-1332)Act>Cct	p.T444P		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	444					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGATATGGGCACTGTGGTCCT	0.413000													33	30					0	0	0.760397	0	0
ZNF616	90317	broad.mit.edu	37	19	52619037	52619037	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:52619037G>A	ENST00000600228.1	-	4	1641	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTTTCTCGCCGGTATGAATTC	0.388000													4	224					0	0	0.150653	0	0
GPR179	440435	broad.mit.edu	37	17	36483635	36483635	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:36483635T>A	ENST00000342292.4	-	11	5837	c.5817A>T	c.(5815-5817)acA>acT	p.T1939T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1939						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAATTCTTCTGTGTCTGCAG	0.498000													28	97					0	0	0.706142	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128771	197128771	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197128771C>T	ENST00000367405.4	-	10	2516	c.2448G>A	c.(2446-2448)caG>caA	p.Q816Q	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTCAGGCATCTGAACTGGAA	0.463000													52	120					0	0	0.870114	0	0
LRRC7	57554	broad.mit.edu	37	1	70555441	70555441	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:70555441T>C	ENST00000310961.5	+	25	4662	c.4244T>C	c.(4243-4245)cTt>cCt	p.L1415P	LRRC7_ENST00000035383.5_Missense_Mutation_p.L1457P|LRRC7_ENST00000415775.2_Missense_Mutation_p.L741P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1457						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AATCCTGGCCTTGGATTTAGT	0.289000													22	114					0	0	0.693898	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130815438	130815438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:130815438C>A	ENST00000509018.1	-	16	2054	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E617*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.E667*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E332*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E617*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E617*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAGTAACTCTTTGAACACT	0.328000													20	112					1.01871e-10	1.17313e-10	0.575678	1	0
APOBEC3D	140564	broad.mit.edu	37	22	39421332	39421332	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39421332T>C	ENST00000216099.7	+	3	875	c.468T>C	c.(466-468)cgT>cgC	p.R156R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R156R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	156					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAGGGGCCCGTGTGAAGATCA	0.592000													39	48					0	0	0.796494	0	0
CMYA5	202333	broad.mit.edu	37	5	79029872	79029872	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:79029872A>T	ENST00000446378.2	+	2	5315	c.5284A>T	c.(5284-5286)Aaa>Taa	p.K1762*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1762						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCGACTTTAAAAAGGGAGG	0.413000													16	95					0	0	0.479597	0	0
FAT4	79633	broad.mit.edu	37	4	126238150	126238150	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:126238150G>T	ENST00000394329.3	+	1	597	c.584G>T	c.(583-585)gGc>gTc	p.G195V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	195	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCCGAGCGGCGAGGGAGCG	0.642000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	41					0.000673444	0.000708229	0.361761	1	0
WBP11P1	441818	broad.mit.edu	37	18	30093472	30093472	+	RNA	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:30093472A>G	ENST00000567636.1	+	0	1847					NR_003558.1																						GGTAGATAATACAAGTGCAGC	0.532000													51	294					0	0	0.870114	0	0
AGFG1	3267	broad.mit.edu	37	2	228337216	228337216	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:228337216C>G	ENST00000310078.7	+	1	339	c.79C>G	c.(79-81)Cga>Gga	p.R27G	AGFG1_ENST00000373671.3_Missense_Mutation_p.R27G|AGFG1_ENST00000409171.1_Missense_Mutation_p.R27G|AGFG1_ENST00000409979.2_Missense_Mutation_p.R27G|AGFG1_ENST00000409315.1_Missense_Mutation_p.R27G	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	27	Arf-GAP.				cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CCCGCACAACCGAAAGTGCTT	0.667000													13	11					0	0	0.457914	0	0
IL21	59067	broad.mit.edu	37	4	123542011	123542011	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123542011A>G	ENST00000264497.3	-	1	213	c.156T>C	c.(154-156)taT>taC	p.Y52Y	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	45					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AGTCATTCACATAATTTTTCA	0.343000													35	103					0	0	0.796494	0	0
PXDNL	137902	broad.mit.edu	37	8	52336292	52336292	+	Splice_Site	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:52336292C>G	ENST00000356297.4	-	14	1739		c.e14-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACACCTTCCTAGGGAGCAA	0.393000													9	48					0	0	0.335167	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601147	48601147	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:48601147T>A	ENST00000323776.5	+	12	1926		c.e12+2		MYCBPAP_ENST00000436259.2_Splice_Site	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein						cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACTGGAGGTAAGGGACCCA	0.532000													15	49					0	0	0.457914	0	0
SEPHS1	22929	broad.mit.edu	37	10	13361236	13361236	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:13361236C>T	ENST00000327347.5	-	9	1460	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	SEPHS1_ENST00000378614.4_Missense_Mutation_p.R291H|SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Missense_Mutation_p.R295H	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	362					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	p.R362H(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCTGGCTGTGCGGTTGCCCTT	0.522000													12	735					0	0	0.457914	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260456	30260456	+	Silent	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:30260456C>G	ENST00000378982.2	+	1	400	c.204C>G	c.(202-204)acC>acG	p.T68T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	68										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGCCACCCACCACCTCTGCTG	0.532000													15	13					0	0	0.500413	0	0
MEP1A	4224	broad.mit.edu	37	6	46761196	46761196	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:46761196G>T	ENST00000230588.4	+	1	70	c.61G>T	c.(61-63)Gct>Tct	p.A21S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	21					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCACATAGCAGCTGTACCGGT	0.343000													129	389					2.10208e-94	2.85322e-94	0.870114	1	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	20					0.150653	0.153059	0.150653	1	0
BARHL2	343472	broad.mit.edu	37	1	91182748	91182748	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:91182748G>T	ENST00000370445.4	-	1	46	c.5C>A	c.(4-6)aCa>aAa	p.T2K		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	2						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCTTCCATTGTCATTGCTAC	0.527000													17	136					1.45105e-14	1.72164e-14	0.539581	1	0
CD8A	925	broad.mit.edu	37	2	87016514	87016514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:87016514C>T	ENST00000409511.2	-	7	1587	c.557G>A	c.(556-558)tGg>tAg	p.W186*	CD8A_ENST00000409781.1_Nonsense_Mutation_p.W149*|CD8A_ENST00000352580.3_Intron|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000538832.1_Nonsense_Mutation_p.W227*|CD8A_ENST00000283635.3_Nonsense_Mutation_p.W186*	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	186					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						CAAGGGCGCCCAGATGTAGAT	0.607000													42	148					0	0	0.859065	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268767	30268767	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:30268767C>A	ENST00000378981.3	+	4	478	c.157C>A	c.(157-159)Cct>Act	p.P53T	MAGEB1_ENST00000397548.2_Missense_Mutation_p.P53T|MAGEB1_ENST00000397550.1_Missense_Mutation_p.P53T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	53										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CACAAGCTCCCCTGCTGCTGG	0.587000													10	7					0.0581538	0.0594383	0.335167	1	0
CDK11B	984	broad.mit.edu	37	1	1586916	1586916	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:1586916C>A	ENST00000407249.3	-	2	133	c.134G>T	c.(133-135)cGg>cTg	p.R45L	CDK11B_ENST00000341832.6_Missense_Mutation_p.R11L|CDK11B_ENST00000317673.7_Missense_Mutation_p.R45L|CDK11B_ENST00000340677.5_Missense_Mutation_p.R45L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	45					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						aagggaatcccgcttggaatc	0.398000													21	34					2.39556e-15	2.87581e-15	0.639603	1	0
AIM1	202	broad.mit.edu	37	6	106969128	106969128	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:106969128C>G	ENST00000369066.3	+	2	3308	c.2821C>G	c.(2821-2823)Cta>Gta	p.L941V		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	941							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGAAGCAACCTACACTTGCC	0.363000													45	61					0	0	0.840704	0	0
CCNA1	8900	broad.mit.edu	37	13	37015288	37015288	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:37015288C>G	ENST00000418263.1	+	7	1479	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	CCNA1_ENST00000255465.4_Missense_Mutation_p.P378A|CCNA1_ENST00000449823.1_Missense_Mutation_p.P334A|CCNA1_ENST00000440264.1_Missense_Mutation_p.P334A	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	378					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGAAGCAGATCCATTCTTGAA	0.398000													41	70					0	0	0.853193	0	0
STAB1	23166	broad.mit.edu	37	3	52558127	52558127	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:52558127T>C	ENST00000321725.6	+	68	7630	c.7554T>C	c.(7552-7554)gaT>gaC	p.D2518D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2518					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CGGAAGATGATGCTGATGACG	0.617000													38	236					0	0	0.804634	0	0
ATP2A3	489	broad.mit.edu	37	17	3844430	3844430	+	Silent	SNP	C	C	T	rs139395876		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:3844430C>T	ENST00000309890.7	-	14	2085	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	ATP2A3_ENST00000352011.3_Silent_p.T645T|ATP2A3_ENST00000397043.3_Silent_p.T645T|ATP2A3_ENST00000359983.3_Silent_p.T645T|ATP2A3_ENST00000397035.3_Silent_p.T645T|ATP2A3_ENST00000397041.3_Silent_p.T645T|ATP2A3_ENST00000397039.1_5'UTR	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	645					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCACGTCTTCCGTGTCCCCAA	0.682000													14	86					0	0	0.539581	0	0
TANC1	85461	broad.mit.edu	37	2	160084427	160084427	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:160084427T>A	ENST00000263635.6	+	25	4238	c.4001T>A	c.(4000-4002)tTa>tAa	p.L1334*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.L1228*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1334						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAATGAATTAAGGGTTTCC	0.458000													72	65					0	0	0.870114	0	0
KIAA1377	57562	broad.mit.edu	37	11	101863550	101863550	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:101863550A>G	ENST00000263468.8	+	10	3556	c.3286A>G	c.(3286-3288)Act>Gct	p.T1096A	KIAA1377_ENST00000537689.1_Missense_Mutation_p.T897A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1096							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CATCAAAAATACTTTACAAAT	0.259000													6	27					0	0	0.248553	0	0
CDKL5	6792	broad.mit.edu	37	X	18602398	18602398	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:18602398T>G	ENST00000379989.3	+	9	764	c.479T>G	c.(478-480)cTg>cGg	p.L160R	CDKL5_ENST00000379996.3_Missense_Mutation_p.L160R	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	160	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCTCGTAATCTGTCAGAAGGC	0.383000													30	116					0	0	0.779181	0	0
FAT2	2196	broad.mit.edu	37	5	150925209	150925209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150925209C>A	ENST00000261800.5	-	9	5491	c.5479G>T	c.(5479-5481)Gag>Tag	p.E1827*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1827	Cadherin 16.				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)			TAATCCATCTCTGATACAATG	0.433000													39	66					1.90571e-15	2.29859e-15	0.796494	1	0
NOTCH4	4855	broad.mit.edu	37	6	32180994	32180994	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:32180994G>A	ENST00000375023.3	-	15	2494	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	786	EGF-like 20.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGGTGCCAGGCCTGTTCACA	0.627000													72	79					0	0	0.870114	0	0
OR1D2	4991	broad.mit.edu	37	17	2995854	2995854	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2995854G>A	ENST00000331459.1	-	1	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	146					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CCAACACAAGGAAAGGAGTAA	0.522000													38	50					0	0	0.804634	0	0
LRAT	9227	broad.mit.edu	37	4	155665617	155665617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155665617C>G	ENST00000336356.3	+	2	392	c.139C>G	c.(139-141)Cga>Gga	p.R47G	LRAT_ENST00000507827.1_Missense_Mutation_p.R47G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	47					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CTCTTTCCACCGAGGCGACGT	0.577000													22	151					0	0	0.667858	0	0
ZNF521	25925	broad.mit.edu	37	18	22806498	22806498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:22806498C>T	ENST00000361524.3	-	4	1532	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	ZNF521_ENST00000584787.1_Missense_Mutation_p.A242T|ZNF521_ENST00000538137.2_Missense_Mutation_p.A462T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	462					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGGTCCTGAGCTTCATGCACT	0.463000			T	PAX5	ALL								22	53					0	0	0.592651	0	0
NES	10763	broad.mit.edu	37	1	156641773	156641773	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:156641773A>G	ENST00000368223.3	-	4	2339	c.2207T>C	c.(2206-2208)cTa>cCa	p.L736P		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	736	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGTTTCTAGAGGTCTCAC	0.428000													66	202					0	0	0.870114	0	0
NSD1	64324	broad.mit.edu	37	5	176666861	176666861	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:176666861A>T	ENST00000439151.2	+	8	4342	c.4297A>T	c.(4297-4299)Aaa>Taa	p.K1433*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.K1164*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.K1164*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.K1330*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1433					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGGCCTTTCTAAAAAGGTATG	0.313000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	46					0	0	0.796494	0	0
PTPRM	5797	broad.mit.edu	37	18	8069752	8069752	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:8069752G>C	ENST00000332175.8	+	8	2238	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	PTPRM_ENST00000400060.4_Missense_Mutation_p.E401Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E188Q|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.E339Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E401Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	401	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCGCTGGGAGCCATTTGG	0.418000													20	56					0	0	0.681144	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023240	93023240	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:93023240G>A	ENST00000523629.1	-	5	1002	c.548C>T	c.(547-549)cCa>cTa	p.P183L	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183L|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194L	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)	183	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P183R(1)|p.P146R(1)|p.P194R(1)		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)			CTTCAAAAATGGGATGACAAA	0.363000													40	132					0	0	0.859065	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572979	38572979	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:38572979G>T	ENST00000222345.6	+	3	1283	c.774G>T	c.(772-774)aaG>aaT	p.K258N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	258					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGGAGCCAAGGGGGACTCCC	0.721000													9	21					9.70103e-10	1.10714e-09	0.361761	1	0
CYTH4	27128	broad.mit.edu	37	22	37708147	37708147	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:37708147C>A	ENST00000248901.6	+	12	1231	c.1044C>A	c.(1042-1044)ggC>ggA	p.G348G		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	348	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TGGTGGAGGGCAAGCACGAAT	0.627000													13	65					0.000151284	0.000160759	0.435327	1	0
FAM19A1	407738	broad.mit.edu	37	3	68055801	68055801	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:68055801T>C	ENST00000478136.1	+	2	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P	FAM19A1_ENST00000496687.1_Missense_Mutation_p.L11P	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	11						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCCTGGGTCCTGTATTTGTGG	0.522000													31	224					0	0	0.769981	0	0
EFCAB13	124989	broad.mit.edu	37	17	45481247	45481247	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:45481247T>A	ENST00000331493.2	+	19	2432	c.2021T>A	c.(2020-2022)tTa>tAa	p.L674*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.L578*	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TTTATAGAGTTACAGGAAGTT	0.343000													34	115					0	0	0.796494	0	0
SEC24B	10427	broad.mit.edu	37	4	110445990	110445990	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:110445990G>A	ENST00000265175.5	+	15	2580	c.2525G>A	c.(2524-2526)gGc>gAc	p.G842D	SEC24B_ENST00000504968.2_Missense_Mutation_p.G872D|SEC24B_ENST00000399100.2_Missense_Mutation_p.G807D	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	842					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAACATCTTGGCCCTGCAACT	0.358000													35	113					0	0	0.796494	0	0
ATR	545	broad.mit.edu	37	3	142217599	142217599	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142217599A>T	ENST00000350721.4	-	32	5519	c.5398T>A	c.(5398-5400)Tgg>Agg	p.W1800R	ATR_ENST00000383101.3_Missense_Mutation_p.W1736R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1800	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTGACACTCCATGTTGTAGAT	0.378000								Other conserved DNA damage response genes					36	65					0	0	0.812448	0	0
FCAMR	83953	broad.mit.edu	37	1	207135666	207135666	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:207135666C>A	ENST00000324852.4	-	5	1018	c.544G>T	c.(544-546)Gtg>Ttg	p.V182L	FCAMR_ENST00000400962.3_Missense_Mutation_p.V182L|FCAMR_ENST00000450945.2_Missense_Mutation_p.V182L	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	137						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCCTCACCACAAACAAGCCT	0.507000													3	50					2.32078e-09	2.63678e-09	0.479597	1	0
LRP2BP	55805	broad.mit.edu	37	4	186294193	186294193	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:186294193A>G	ENST00000362004.3	-	6	1437	c.626T>C	c.(625-627)cTg>cCg	p.L209P	LRP2BP_ENST00000510776.1_Missense_Mutation_p.L181P|LRP2BP_ENST00000328559.7_Missense_Mutation_p.L207P|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.L207P			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	207						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CTGGGACTCCAGATTCCCATT	0.473000													23	85					0	0	0.639603	0	0
MKRN3	7681	broad.mit.edu	37	15	23811561	23811561	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:23811561C>A	ENST00000314520.3	+	1	1108	c.632C>A	c.(631-633)cCc>cAc	p.P211H	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	211						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCAGGGCAGCCCTACCGGGGC	0.597000													12	45					6.40141e-05	6.84521e-05	0.387290	1	0
PURG	29942	broad.mit.edu	37	8	30889548	30889548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:30889548G>A	ENST00000475541.1	-	1	1683	c.751C>T	c.(751-753)Cga>Tga	p.R251*	PURG_ENST00000339382.2_Nonsense_Mutation_p.R251*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	251						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCACCTCTTCGTTCTTCTATG	0.458000													43	112					0	0	0.840704	0	0
RSRC1	51319	broad.mit.edu	37	3	158072664	158072664	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:158072664A>C	ENST00000464171.1	+	5	501	c.376A>C	c.(376-378)Aaa>Caa	p.K126Q	RSRC1_ENST00000475278.2_Missense_Mutation_p.K184Q|RSRC1_ENST00000312179.6_Missense_Mutation_p.K126Q|RSRC1_ENST00000295930.3_Missense_Mutation_p.K184Q|RSRC1_ENST00000480820.1_Missense_Mutation_p.K184Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	184	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TGAACAGGCCAAAGCCAGACT	0.358000													6	30					0	0	0.278610	0	0
CUX2	23316	broad.mit.edu	37	12	111747976	111747976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:111747976C>A	ENST00000261726.6	+	15	1544	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	464	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCAGCCCCTGCTGGGCCCCAG	0.687000													7	18					0.000274275	0.000290846	0.307466	1	0
LRP1B	53353	broad.mit.edu	37	2	141108504	141108504	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141108504T>A	ENST00000389484.3	-	77	12725	c.11754A>T	c.(11752-11754)gaA>gaT	p.E3918D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3918					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)		TTGAATTATGTTCAATATGAG	0.338000										TSP Lung(27;0.18)			107	120					0	0	0.870114	0	0
A1CF	29974	broad.mit.edu	37	10	52570857	52570857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:52570857C>G	ENST00000395489.2	-	13	1802	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	A1CF_ENST00000282641.2_Missense_Mutation_p.R476T|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Missense_Mutation_p.R421T|A1CF_ENST00000373997.3_Missense_Mutation_p.R468T|A1CF_ENST00000373995.3_Missense_Mutation_p.R476T|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.R468T|A1CF_ENST00000373993.1_Missense_Mutation_p.R476T	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	476					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						GAATAGCTGTCTTTGGTCTTG	0.388000													15	67					0	0	0.539581	0	0
NXF4	55999	broad.mit.edu	37	X	101818928	101818928	+	RNA	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:101818928G>A	ENST00000360035.2	+	0	1212					NR_002216.1															endometrium(2)|lung(8)	10						ATGGCTGGAAGGGAACTCATT	0.557000													22	12					0	0	0.592651	0	0
OR2W1	26692	broad.mit.edu	37	6	29012622	29012622	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29012622C>G	ENST00000377175.1	-	1	395	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAAGGCACTCAACTGAGCCC	0.433000													21	123					0	0	0.575678	0	0
MON2	23041	broad.mit.edu	37	12	62892803	62892803	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:62892803G>T	ENST00000393630.3	+	5	931	c.540G>T	c.(538-540)atG>atT	p.M180I	MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393629.2_Missense_Mutation_p.M180I|MON2_ENST00000552738.1_Missense_Mutation_p.M180I|MON2_ENST00000546600.1_Missense_Mutation_p.M180I|MON2_ENST00000552115.1_Missense_Mutation_p.M180I|MON2_ENST00000393632.2_Missense_Mutation_p.M180I|MON2_ENST00000280379.6_Missense_Mutation_p.M180I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	180					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAGAGGATGGTTGCTGAAG	0.378000													102	297					6.84326e-50	9.2393e-50	0.870114	1	0
SLC44A3	126969	broad.mit.edu	37	1	95332973	95332973	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95332973G>C	ENST00000271227.6	+	12	1584	c.1482_splice	c.e12+1	p.Q494_splice	SLC44A3_ENST00000527077.1_Splice_Site_p.Q426_splice|SLC44A3_ENST00000532427.1_Splice_Site_p.Q414_splice|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Splice_Site_p.Q458_splice|SLC44A3_ENST00000467909.1_Splice_Site_p.Q446_splice|SLC44A3_ENST00000529450.1_Splice_Site_p.Q461_splice	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	494						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	ATCTCAACCAGGTACGTCTCT	0.493000													25	165					0	0	0.667858	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141546	48141546	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48141546G>T	ENST00000405493.2	-	14	1505	c.1296C>A	c.(1294-1296)gcC>gcA	p.A432A	RAPGEF3_ENST00000389212.3_Silent_p.A474A|RAPGEF3_ENST00000171000.4_Silent_p.A432A|RAPGEF3_ENST00000449771.2_Silent_p.A474A|RAPGEF3_ENST00000549151.1_Silent_p.A432A|RAPGEF3_ENST00000548919.1_Silent_p.A432A|RAPGEF3_ENST00000395358.3_Silent_p.A474A	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	432					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGCCATACAGGGCCACCCACT	0.657000													7	45					2.74318e-10	3.14477e-10	0.335167	1	0
HIPK3	10114	broad.mit.edu	37	11	33375104	33375104	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:33375104C>A	ENST00000303296.4	+	17	3943	c.3638C>A	c.(3637-3639)cCa>cAa	p.P1213Q	HIPK3_ENST00000456517.1_Missense_Mutation_p.P1192Q|HIPK3_ENST00000525975.1_Missense_Mutation_p.P1192Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1192Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1213					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGCCAGTATCCATATATGTGA	0.353000													51	57					2.27781e-18	2.82094e-18	0.870114	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900745	151900745	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:151900745T>C	ENST00000393900.3	-	3	409	c.56A>G	c.(55-57)cAa>cGa	p.Q19R	MAGEA12_ENST00000357916.4_Missense_Mutation_p.Q19R|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.Q19R	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	19										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTCTCCTTGGGCCTCAAG	0.617000													19	50					0	0	0.557998	0	0
WDR17	116966	broad.mit.edu	37	4	177098636	177098636	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177098636C>A	ENST00000393643.2	+	29	3860	c.3608C>A	c.(3607-3609)tCt>tAt	p.S1203Y	WDR17_ENST00000507824.2_Missense_Mutation_p.S1202Y|WDR17_ENST00000280190.4_Missense_Mutation_p.S1227Y|WDR17_ENST00000508596.1_Missense_Mutation_p.S1188Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1227										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTAGAAGACTCTCCGTATACA	0.299000													32	157					3.99451e-17	4.85252e-17	0.740014	1	0
ZNF99	7652	broad.mit.edu	37	19	22939865	22939865	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22939865T>C	ENST00000397104.3	-	6	2465	c.2466A>G	c.(2464-2466)ctA>ctG	p.L822L						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGTATGAATTAGCTTATGTT	0.373000													27	147					0	0	0.706142	0	0
A1BG	1	broad.mit.edu	37	19	58864486	58864486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58864486G>A	ENST00000263100.3	-	3	209	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	50	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AGGTGGGCCTGGCACGTCAGC	0.592000													94	96					0	0	0.870114	0	0
RPL10A	4736	broad.mit.edu	37	6	35438521	35438521	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:35438521A>G	ENST00000322203.6	+	6	675	c.648A>G	c.(646-648)ctA>ctG	p.L216L	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	216					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCCAGCGCCTATATTAAGGCA	0.493000													64	66					0	0	0.870114	0	0
RNF175	285533	broad.mit.edu	37	4	154649396	154649396	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:154649396T>C	ENST00000347063.4	-	4	736	c.364A>G	c.(364-366)Aga>Gga	p.R122G	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	122						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CGGGTAGCTCTGAAGAGGATG	0.428000													30	69					0	0	0.740014	0	0
CPB1	1360	broad.mit.edu	37	3	148558763	148558763	+	Splice_Site	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:148558763G>T	ENST00000491148.1	+	6	808		c.e6+1		CPB1_ENST00000282957.4_Splice_Site			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCTCCTGAAGGTAATCATTTT	0.443000													24	121					5.35356e-11	6.19309e-11	0.639603	1	0
PRDM9	56979	broad.mit.edu	37	5	23527819	23527819	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:23527819C>T	ENST00000296682.3	+	11	2804	c.2622C>T	c.(2620-2622)agC>agT	p.S874S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	874					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						ATAGGTCAAGCCTCTGCTATC	0.522000										HNSCC(3;0.000094)			33	110					0	0	0.760397	0	0
CATSPER2	117155	broad.mit.edu	37	15	43927951	43927951	+	Silent	SNP	G	G	A	rs144799666		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:43927951G>A	ENST00000396879.1	-	10	1207	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	CATSPER2_ENST00000355438.2_Silent_p.D365D|CATSPER2_ENST00000321596.5_Silent_p.D365D|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.D365D|CATSPER2_ENST00000381761.1_Silent_p.D371D			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	365					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCTTGAACATGTCAGCTTTGA	0.488000													21	45					0	0	0.608945	0	0
TNC	3371	broad.mit.edu	37	9	117848972	117848972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:117848972G>T	ENST00000350763.4	-	3	1449	c.1038C>A	c.(1036-1038)tgC>tgA	p.C346*	TNC_ENST00000345230.3_Nonsense_Mutation_p.C346*|TNC_ENST00000535648.1_Nonsense_Mutation_p.C346*|TNC_ENST00000341037.4_Nonsense_Mutation_p.C346*|TNC_ENST00000537320.1_Nonsense_Mutation_p.C346*|TNC_ENST00000346706.3_Nonsense_Mutation_p.C346*|TNC_ENST00000542877.1_Nonsense_Mutation_p.C346*|TNC_ENST00000340094.3_Nonsense_Mutation_p.C346*|TNC_ENST00000423613.2_Nonsense_Mutation_p.C346*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	346	EGF-like 7.				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						AGGCATGTGGGCAGGTGGGTT	0.612000													12	60					1.5842e-08	1.77612e-08	0.435327	1	0
GPR111	222611	broad.mit.edu	37	6	47650333	47650333	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:47650333A>T	ENST00000398742.2	+	5	1883	c.1834A>T	c.(1834-1836)Att>Ttt	p.I612F	GPR111_ENST00000296862.1_Missense_Mutation_p.I680F|GPR111_ENST00000507065.1_Missense_Mutation_p.I612F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	680					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCCTTCCACATTATCTTCTC	0.483000													52	85					0	0	0.870114	0	0
LAMA1	284217	broad.mit.edu	37	18	6980533	6980533	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:6980533T>A	ENST00000389658.3	-	42	6087	c.5994A>T	c.(5992-5994)agA>agT	p.R1998S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1998	Domain II and I.				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)	TAGGAATTGCTCTAAGTATCA	0.373000													25	62					0	0	0.693898	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250500	140250500	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140250500G>T	ENST00000398640.2	+	1	1812	c.1812G>T	c.(1810-1812)gcG>gcT	p.A604A	PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCAT	0.672000													13	67					2.62699e-14	3.10962e-14	0.479597	1	0
SYNE2	23224	broad.mit.edu	37	14	64630120	64630120	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:64630120G>C	ENST00000357395.3	+	90	16599	c.5454_splice	c.e90-1	p.E1819_splice	SYNE2_ENST00000554584.1_Splice_Site_p.E5351_splice|SYNE2_ENST00000358025.3_Splice_Site_p.E5434_splice|SYNE2_ENST00000394768.2_Splice_Site_p.E1819_splice|SYNE2_ENST00000344113.4_Splice_Site_p.E5434_splice|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Splice_Site_p.E2068_splice			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5434					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E5434Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTCTGCAGGAGCTGCAGCA	0.493000													25	86					0	0	0.667858	0	0
CRB1	23418	broad.mit.edu	37	1	197390919	197390919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197390919C>T	ENST00000367397.1	+	2	962	c.104C>T	c.(103-105)aCc>aTc	p.T35I	CRB1_ENST00000535699.1_Missense_Mutation_p.T585I|CRB1_ENST00000367399.2_Missense_Mutation_p.T542I|CRB1_ENST00000367400.3_Missense_Mutation_p.T654I|CRB1_ENST00000543483.1_Missense_Mutation_p.P284S|CRB1_ENST00000544212.1_Missense_Mutation_p.T135I|CRB1_ENST00000538660.1_Missense_Mutation_p.T654I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	654	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATCACATTACCCTGGAGAAC	0.448000													68	218					0	0	0.870114	0	0
CSMD3	114788	broad.mit.edu	37	8	113395840	113395840	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:113395840T>C	ENST00000297405.5	-	37	6231	c.5987A>G	c.(5986-5988)tAt>tGt	p.Y1996C	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1956C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1926C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1892C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1996	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCCCCATCATAAAAGTCCAG	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	99					0	0	0.870114	0	0
POTEG	404785	broad.mit.edu	37	14	19553736	19553736	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19553736C>A	ENST00000409832.3	+	1	372	c.320C>A	c.(319-321)cCc>cAc	p.P107H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	107										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGCTTCCCCTGCTGCAGG	0.602000													27	710					3.03874e-20	3.82851e-20	0.779181	1	0
HIVEP3	59269	broad.mit.edu	37	1	42047570	42047570	+	Missense_Mutation	SNP	G	G	A	rs141506685	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:42047570G>A	ENST00000372584.1	-	3	3913	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R967C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R967C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R967C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	967	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R967C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTTTGGGGCGCATGTCAGAT	0.612000													4	110					0	0	0.150653	0	0
NXF3	56000	broad.mit.edu	37	X	102332615	102332615	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:102332615C>T	ENST00000395065.3	-	18	1612	c.1511G>A	c.(1510-1512)aGt>aAt	p.S504N	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.S176N	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	504						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GAACAAGGCACTCTGGGTCCC	0.567000													63	32					0	0	0.870114	0	0
THNSL2	55258	broad.mit.edu	37	2	88482287	88482287	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:88482287T>A	ENST00000324166.5	+	5	2563	c.872T>A	c.(871-873)aTc>aAc	p.I291N	THNSL2_ENST00000343544.4_Missense_Mutation_p.I291N|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Missense_Mutation_p.I291N|THNSL2_ENST00000402102.1_Missense_Mutation_p.I291N|THNSL2_ENST00000358591.2_Missense_Mutation_p.I291N	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	291					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AATGACATCATCCACAGGACT	0.527000													31	98					0	0	0.779181	0	0
FAT3	120114	broad.mit.edu	37	11	92085313	92085313	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92085313G>T	ENST00000298047.6	+	1	52	c.35G>T	c.(34-36)cGg>cTg	p.R12L	FAT3_ENST00000541502.1_Missense_Mutation_p.R12L|FAT3_ENST00000409404.2_Missense_Mutation_p.R12L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	12					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGCACACGGCCTCCTGCT	0.502000										TCGA Ovarian(4;0.039)			11	85					9.31168e-06	1.01059e-05	0.435327	1	0
FAM222B	55731	broad.mit.edu	37	17	27085474	27085474	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:27085474G>T	ENST00000341217.5	-	3	1718	c.1503C>A	c.(1501-1503)ggC>ggA	p.G501G	FAM222B_ENST00000452648.3_Silent_p.G501G|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.G501G	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	501								p.G501G(1)									CCACTGGACCGCCCCCGGTCC	0.632000													34	67					6.00712e-18	7.40345e-18	0.760397	1	0
BAI2	576	broad.mit.edu	37	1	32221927	32221927	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:32221927G>T	ENST00000373658.3	-	4	852	c.511C>A	c.(511-513)Cgc>Agc	p.R171S	BAI2_ENST00000398542.1_Missense_Mutation_p.R159S|BAI2_ENST00000373655.2_Missense_Mutation_p.R171S|BAI2_ENST00000398538.1_Missense_Mutation_p.R159S|BAI2_ENST00000398547.1_Missense_Mutation_p.R159S|BAI2_ENST00000398556.3_Missense_Mutation_p.R174S|BAI2_ENST00000527361.1_Missense_Mutation_p.R171S|BAI2_ENST00000257070.4_Missense_Mutation_p.R171S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	171					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCAGCAGGCGCGGGGCCTCG	0.622000													9	76					0.000442599	0.000468364	0.335167	1	0
MYBPC1	4604	broad.mit.edu	37	12	102043145	102043145	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:102043145C>A	ENST00000549145.1	+	14	1368	c.1268C>A	c.(1267-1269)gCt>gAt	p.A423D	MYBPC1_ENST00000550270.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A396D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A384D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A398D|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A391D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A410D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A410D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A397D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A435D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A410D|RP11-755O11.2_ENST00000547027.1_RNA|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A311D|MYBPC1_ENST00000550501.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	410	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGGCTGATGCTGCAGAATAT	0.393000													26	176					1.56442e-22	1.98576e-22	0.760397	1	0
AP3D1	8943	broad.mit.edu	37	19	2109208	2109208	+	Splice_Site	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2109208T>C	ENST00000355272.6	-	30	3557		c.e30-2		AP3D1_ENST00000350812.6_Splice_Site|AP3D1_ENST00000345016.5_Splice_Site|AP3D1_ENST00000356926.4_Splice_Site	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCGTCACTGTGGGAGGGA	0.582000													72	167					0	0	0.870114	0	0
RYR2	6262	broad.mit.edu	37	1	237666648	237666648	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:237666648A>G	ENST00000366574.2	+	22	2773	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	RYR2_ENST00000360064.6_Missense_Mutation_p.Y817C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y803C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	819					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)			CCACCTGGGTATGCTCCTTGT	0.458000													8	34					0	0	0.278610	0	0
DMTF1	9988	broad.mit.edu	37	7	86817562	86817562	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86817562C>T	ENST00000414194.2	+	13	2350	c.558C>T	c.(556-558)gcC>gcT	p.A186A	DMTF1_ENST00000432937.2_Silent_p.A364A|DMTF1_ENST00000394703.5_Silent_p.A452A|DMTF1_ENST00000331242.7_Silent_p.A452A|DMTF1_ENST00000413276.2_Intron			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	452	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATAATACAGCCATCTCTTCTA	0.418000													86	288					0	0	0.870114	0	0
ZNF696	79943	broad.mit.edu	37	8	144378710	144378710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:144378710G>A	ENST00000330143.3	+	3	1274	c.865G>A	c.(865-867)Ggg>Agg	p.G289R		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CGTGCACACGGGGGAGCGGCC	0.726000													5	10					0	0	0.248553	0	0
SPTA1	6708	broad.mit.edu	37	1	158585170	158585170	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158585170C>T	ENST00000368148.3	-	48	6804	c.6624G>A	c.(6622-6624)gcG>gcA	p.A2208A	SPTA1_ENST00000368147.3_Silent_p.A2205A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2208					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACGCTTCATCGCCTGGATCT	0.468000													92	198					0	0	0.870114	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892263	9892263	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:9892263C>G	ENST00000396573.2	-	12	2536	c.2227G>C	c.(2227-2229)Gaa>Caa	p.E743Q	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E586Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E743Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E743Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E743Q|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E743Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	743					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGCAGCCTTCATCCCTCCCA	0.537000													23	87					0	0	0.681144	0	0
KRT33A	3883	broad.mit.edu	37	17	39502482	39502482	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39502482G>A	ENST00000007735.3	-	7	1148	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	368	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGGTTGGAGGGGAGCCTGT	0.488000													12	129					0	0	0.411799	0	0
FGF1	2246	broad.mit.edu	37	5	141974899	141974899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:141974899G>A	ENST00000359370.6	-	4	503	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	FGF1_ENST00000378046.1_Nonsense_Mutation_p.Q142*|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000360966.5_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Nonsense_Mutation_p.Q142*|FGF1_ENST00000419524.2_Nonsense_Mutation_p.Q142*	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	142	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	ATTGCTTTCTGGCCATAGTGA	0.483000													9	64					0	0	0.335167	0	0
PCLO	27445	broad.mit.edu	37	7	82538228	82538228	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:82538228C>A	ENST00000423517.2	-	8	13739	c.13402G>T	c.(13402-13404)Gtc>Ttc	p.V4468F	PCLO_ENST00000333891.8_Missense_Mutation_p.V4468F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4399	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGAGTGGACCAATCTTTCC	0.413000													35	120					4.3181e-19	5.36076e-19	0.769981	1	0
TTN	7273	broad.mit.edu	37	2	179582426	179582426	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:179582426G>T	ENST00000589042.1	-	87	25399	c.25175C>A	c.(25174-25176)tCt>tAt	p.S8392Y	TTN_ENST00000591111.1_Missense_Mutation_p.S8075Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7148Y|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8075	Ig-like 66.						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)			CTTGTACCAAGACACTTGAAG	0.413000													29	41					7.26314e-15	8.63771e-15	0.717897	1	0
ZNF526	116115	broad.mit.edu	37	19	42730364	42730364	+	Silent	SNP	A	A	G	rs145952747		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:42730364A>G	ENST00000301215.3	+	3	2034	c.1809A>G	c.(1807-1809)ctA>ctG	p.L603L		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CTTTGACGCTACAGCCTCCCA	0.617000													25	104					0	0	0.639603	0	0
EXOC4	60412	broad.mit.edu	37	7	133749194	133749194	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:133749194C>A	ENST00000253861.4	+	18	2867	c.2838C>A	c.(2836-2838)aaC>aaA	p.N946K	EXOC4_ENST00000541309.1_Missense_Mutation_p.N234K|EXOC4_ENST00000539845.1_Missense_Mutation_p.N845K|EXOC4_ENST00000545148.1_Missense_Mutation_p.N556K	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	946					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CCACCCAGAACACGAGGCTGC	0.582000													23	96					0.00047179	0.000498218	0.654019	1	0
MYO18B	84700	broad.mit.edu	37	22	26422890	26422890	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:26422890C>A	ENST00000335473.7	+	43	7200	c.6950C>A	c.(6949-6951)gCt>gAt	p.A2317D	MYO18B_ENST00000407587.2_Missense_Mutation_p.A2318D|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2317D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2317						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGGGGCCGCTGGTGGTCTC	0.587000													24	68					1.66031e-10	1.90766e-10	0.667858	1	0
PPP1R3B	79660	broad.mit.edu	37	8	8998511	8998511	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8998511A>T	ENST00000310455.3	-	2	801	c.651T>A	c.(649-651)aaT>aaA	p.N217K	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.N217K	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	217	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACGTCTGTCCATTGCACTCGT	0.507000													45	124					0	0	0.870114	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													6	418					0	0	0.217242	0	0
MYRIP	25924	broad.mit.edu	37	3	40275391	40275391	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:40275391C>A	ENST00000302541.6	+	12	2289	c.1947C>A	c.(1945-1947)gtC>gtA	p.V649V	MYRIP_ENST00000539167.1_Silent_p.V462V|MYRIP_ENST00000444716.1_Silent_p.V649V|MYRIP_ENST00000425621.1_Intron|MYRIP_ENST00000396217.3_Silent_p.V560V|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	649	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCACAGAAGTCCTGAAAGTCA	0.488000													26	81					3.01185e-09	3.39166e-09	0.667858	1	0
GLRB	2743	broad.mit.edu	37	4	158065104	158065104	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158065104G>T	ENST00000264428.4	+	8	1167	c.897G>T	c.(895-897)gtG>gtT	p.V299V	GLRB_ENST00000541722.1_Silent_p.V299V|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Silent_p.V299V	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	299					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTGCCAGAGTGCCCCTGGGTA	0.448000													19	142					6.33239e-15	7.54844e-15	0.592651	1	0
ANP32D	23519	broad.mit.edu	37	12	48866821	48866821	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:48866821T>A	ENST00000266594.1	+	1	374	c.374T>A	c.(373-375)gTa>gAa	p.V125E		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	125										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ACTTGCGAGGTAACCAACCTG	0.448000													18	95					0	0	0.520397	0	0
GRM6	2916	broad.mit.edu	37	5	178410115	178410115	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:178410115G>A	ENST00000231188.5	-	9	2410	c.2232C>T	c.(2230-2232)tgC>tgT	p.C744C	GRM6_ENST00000517717.1_Silent_p.C744C|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	744					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGACATGTCGCACTTGAGCA	0.637000													7	71					0	0	0.361761	0	0
OR5K2	402135	broad.mit.edu	37	3	98217106	98217106	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:98217106C>T	ENST00000427338.1	+	1	659	c.582C>T	c.(580-582)atC>atT	p.I194I	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACCCTTTCATCAATGAACTGG	0.353000													204	360					0	0	0.870114	0	0
SORCS3	22986	broad.mit.edu	37	10	107022247	107022247	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:107022247T>C	ENST00000369701.3	+	26	3829	c.3602T>C	c.(3601-3603)aTa>aCa	p.I1201T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1201						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACGCGGGTCATAGGTACATGC	0.542000													25	63					0	0	0.654019	0	0
OR2J2	26707	broad.mit.edu	37	6	29141990	29141990	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29141990C>A	ENST00000377167.2	+	1	680	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGTTGACACCCATGCAAAT	0.473000													41	339					1.49673e-21	1.89512e-21	0.819951	1	0
ZNF597	146434	broad.mit.edu	37	16	3487033	3487033	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:3487033G>A	ENST00000301744.4	-	4	901	c.666C>T	c.(664-666)cgC>cgT	p.R222R	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGAGTGCTGGCGAAAGCTGG	0.473000													80	194					0	0	0.870114	0	0
RASGRF2	5924	broad.mit.edu	37	5	80363998	80363998	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:80363998G>A	ENST00000265080.4	+	3	610	c.543_splice	c.e3+1	p.E181_splice		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	181					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TTAAATCAGAGGTATTTCCCA	0.393000													11	103					0	0	0.387290	0	0
SOX11	6664	broad.mit.edu	37	2	5832931	5832931	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:5832931C>T	ENST00000322002.3	+	1	133	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	26					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGGGCGAATTCATGGCTTGCA	0.657000													5	18					0	0	0.217242	0	0
UBE2I	7329	broad.mit.edu	37	16	1374785	1374785	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:1374785G>T	ENST00000355803.4	+	7	1019	c.468G>T	c.(466-468)gcG>gcT	p.A156A	UBE2I_ENST00000325437.5_Silent_p.A156A|UBE2I_ENST00000397514.3_Silent_p.A156A|UBE2I_ENST00000406620.1_Silent_p.A156A|UBE2I_ENST00000403747.2_Silent_p.A156A|UBE2I_ENST00000566587.1_Silent_p.A156A|UBE2I_ENST00000397515.2_Silent_p.A156A	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	156					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AGAAGTTTGCGCCCTCATAAG	0.473000													14	55					2.4624e-09	2.79145e-09	0.575678	1	0
ZNF251	90987	broad.mit.edu	37	8	145948593	145948593	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:145948593G>A	ENST00000292562.7	-	5	727	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACTCTGCCCGGCAGAATTTCC	0.483000													4	180					0	0	0.217242	0	0
DHX36	170506	broad.mit.edu	37	3	154013097	154013097	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154013097C>T	ENST00000496811.1	-	13	1661	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	DHX36_ENST00000308361.6_Silent_p.L527L|DHX36_ENST00000329463.5_Intron|DHX36_ENST00000544526.1_Intron	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	527	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGTAGGCATCAGTGAATGTA	0.303000													14	39					0	0	0.500413	0	0
UNC80	285175	broad.mit.edu	37	2	210640627	210640627	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:210640627G>A	ENST00000439458.1	+	3	236	c.156G>A	c.(154-156)gtG>gtA	p.V52V	UNC80_ENST00000272845.5_Silent_p.V52V|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	52						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TTGAGCGAGTGTTGGTAGAAA	0.418000													93	107					0	0	0.870114	0	0
CDON	50937	broad.mit.edu	37	11	125885306	125885306	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:125885306C>G	ENST00000392693.3	-	7	1155	c.1028G>C	c.(1027-1029)tGt>tCt	p.C343S	CDON_ENST00000263577.7_Missense_Mutation_p.C343S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	343	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AAACCAGGTACAGTTGGGGGC	0.488000													11	85					0	0	0.361761	0	0
ATP12A	479	broad.mit.edu	37	13	25265203	25265203	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:25265203G>T	ENST00000218548.6	+	8	1234	c.901G>T	c.(901-903)Gag>Tag	p.E301*	ATP12A_ENST00000381946.3_Nonsense_Mutation_p.E295*	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	295					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGTTGGAAATGAGAAGACGCC	0.517000													36	76					2.75727e-19	3.43142e-19	0.804634	1	0
PRL	5617	broad.mit.edu	37	6	22287700	22287700	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:22287700C>A	ENST00000306482.1	-	5	1133	c.615G>T	c.(613-615)agG>agT	p.R205S	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	205					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TATGTGAATCCCTGCGTAGGC	0.463000													164	149					1.03592e-72	1.40236e-72	0.870114	1	0
TRBV4-1	28617	broad.mit.edu	37	7	142013211	142013211	+	RNA	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:142013211A>G	ENST00000390357.3	+	0	95																											TAGACACTGAAGTTACCCAGA	0.468000													7	80					0	0	0.248553	0	0
NTRK3	4916	broad.mit.edu	37	15	88472661	88472661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:88472661G>A	ENST00000394480.1	-	17	2215	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	NTRK3_ENST00000357724.2_Missense_Mutation_p.H624Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.H632Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.H624Y|NTRK3_ENST00000542733.2_Missense_Mutation_p.H534Y|NTRK3_ENST00000558676.1_Missense_Mutation_p.H624Y|NTRK3_ENST00000360948.2_Missense_Mutation_p.H632Y	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	632	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGCCCATGGGCCCTGCAA	0.597000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	34					0	0	0.387290	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18889684	18889684	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:18889684C>G	ENST00000380548.4	+	25	4920	c.4581C>G	c.(4579-4581)tgC>tgG	p.C1527W	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C228W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1527						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCCCACTGCGCAGGGAAGG	0.657000													16	23					0	0	0.500413	0	0
C1orf173	127254	broad.mit.edu	37	1	75055489	75055489	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:75055489C>A	ENST00000326665.5	-	12	2220	c.2002G>T	c.(2002-2004)Gtt>Ttt	p.V668F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V471F	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	668	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						TCTTTAAGAACATTCTCAAAG	0.398000													22	149					3.01185e-09	3.39166e-09	0.667858	1	0
CLSTN2	64084	broad.mit.edu	37	3	140123507	140123507	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:140123507T>C	ENST00000458420.3	+	4	726	c.536T>C	c.(535-537)cTg>cCg	p.L179P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	179	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GACAGCATTCTGCAGGTGGAG	0.507000										HNSCC(16;0.037)			40	143					0	0	0.827153	0	0
ALMS1	7840	broad.mit.edu	37	2	73747023	73747023	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:73747023A>G	ENST00000264448.6	+	11	9769	c.9658A>G	c.(9658-9660)Aat>Gat	p.N3220D	ALMS1_ENST00000409009.1_Missense_Mutation_p.N3178D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3220					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATTTTTATTAATGCTGAAGA	0.403000													28	179					0	0	0.681144	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472151	25472151	+	RNA	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:25472151A>G	ENST00000453082.2	+	0	1193					NR_003343.1																						CAGTGCGCTGAAGCTCAGGAC	0.627000													18	54					0	0	0.539581	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133831	119133831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:119133831C>T	ENST00000264245.4	+	12	3587	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1019					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGCAGAGGCTCCTCCCAACCA	0.592000													21	95					0	0	0.608945	0	0
BIRC6	57448	broad.mit.edu	37	2	32770763	32770763	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:32770763G>T	ENST00000421745.2	+	63	12780	c.12646G>T	c.(12646-12648)Gtc>Ttc	p.V4216F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4216					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCTTTCCACGTCCTTCGTAG	0.413000													92	286					1.11883e-47	1.50657e-47	0.870114	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898525	112898525	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:112898525T>C	ENST00000374530.3	+	8	881	c.701T>C	c.(700-702)aTt>aCt	p.I234T	AKAP2_ENST00000259318.7_Missense_Mutation_p.I3T|AKAP2_ENST00000374525.1_Missense_Mutation_p.I92T|AKAP2_ENST00000555236.1_Missense_Mutation_p.I234T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.I234T|AKAP2_ENST00000434623.2_Missense_Mutation_p.I92T|AKAP2_ENST00000510514.5_Missense_Mutation_p.I234T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		3							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						AACATGGAAATTGAGGTGTCT	0.502000													45	222					0	0	0.847076	0	0
ROBO4	54538	broad.mit.edu	37	11	124761403	124761403	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:124761403A>G	ENST00000306534.3	-	12	2225	c.1740T>C	c.(1738-1740)acT>acC	p.T580T	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Silent_p.T435T	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	580					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGCCATAAAAAGTGCTGGTGT	0.622000													17	55					0	0	0.639603	0	0
PCDH7	5099	broad.mit.edu	37	4	31144302	31144302	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:31144302G>T	ENST00000543491.1	+	3	3599	c.3599G>T	c.(3598-3600)cGc>cTc	p.R1200L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502000													18	139					1.56452e-12	1.84339e-12	0.557998	1	0
ZNF330	27309	broad.mit.edu	37	4	142155086	142155086	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:142155086G>T	ENST00000262990.4	+	10	1134	c.906G>T	c.(904-906)ttG>ttT	p.L302F	ZNF330_ENST00000421169.2_Missense_Mutation_p.L242F	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	302						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					TTACTAATTTGAATTTAGGAA	0.458000													20	107					4.26978e-12	4.99613e-12	0.654019	1	0
TFAP4	7023	broad.mit.edu	37	16	4310219	4310219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:4310219G>A	ENST00000204517.6	-	6	1022	c.694C>T	c.(694-696)Cac>Tac	p.H232Y		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	232	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCGTGGGGTGGTGGGTGGGG	0.617000													26	39					0	0	0.693898	0	0
ZNF676	163223	broad.mit.edu	37	19	22363959	22363959	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:22363959T>C	ENST00000397121.2	-	3	877	c.560A>G	c.(559-561)tAt>tGt	p.Y187C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	187				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATACTCTTATAATAAGTAAG	0.338000													28	158					0	0	0.706142	0	0
NFATC1	4772	broad.mit.edu	37	18	77246597	77246597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:77246597C>T	ENST00000253506.5	+	9	2811	c.2442C>T	c.(2440-2442)ccC>ccT	p.814_814insP	NFATC1_ENST00000329101.4_Silent_p.P801P|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000427363.2_Silent_p.P814P|NFATC1_ENST00000545796.1_Silent_p.P342P|NFATC1_ENST00000397790.2_Missense_Mutation_p.342_342insP|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.801_801insP	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGGCTCGCCCGGGCAGCCAC	0.751000													3	16					0	0	0.115264	0	0
VGF	7425	broad.mit.edu	37	7	100806374	100806374	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:100806374C>G	ENST00000249330.2	-	2	1990	c.1751G>C	c.(1750-1752)cGg>cCg	p.R584P	VGF_ENST00000445482.2_Missense_Mutation_p.R584P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	584					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CTGCGCGCGCCGCGCCTGGGC	0.746000													7	35					0	0	0.335167	0	0
FFAR1	2864	broad.mit.edu	37	19	35842987	35842987	+	Missense_Mutation	SNP	C	C	G	rs143187042		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:35842987C>G	ENST00000246553.2	+	1	543	c.533C>G	c.(532-534)tCt>tGt	p.S178C		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	178					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GACCCGGCCTCTGCCGGCCCG	0.677000													11	70					0	0	0.361761	0	0
CUBN	8029	broad.mit.edu	37	10	16873368	16873368	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:16873368C>T	ENST00000377833.4	-	65	10476	c.10411G>A	c.(10411-10413)Gga>Aga	p.G3471R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3471	CUB 26.				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)	AGCAGAGTTCCACAGTACTTG	0.373000													48	202					0	0	0.870114	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473690	53473690	+	RNA	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:53473690A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GGTTTTAGGAATACAAGAAAT	0.368000													8	59					0	0	0.278610	0	0
SEPT9	10801	broad.mit.edu	37	17	75488797	75488797	+	Splice_Site	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:75488797G>C	ENST00000329047.8	+	8	2233	c.1422_splice	c.e8+1	p.R474_splice	SEPT9_ENST00000427177.1_Splice_Site_p.R492_splice|SEPT9_ENST00000449803.2_Splice_Site_p.R328_splice|SEPT9_ENST00000590294.1_Splice_Site_p.R474_splice|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427674.2_Splice_Site_p.R328_splice|SEPT9_ENST00000588690.1_Splice_Site_p.R328_splice|SEPT9_ENST00000423034.2_Splice_Site_p.R485_splice|SEPT9_ENST00000541152.2_Splice_Site_p.R241_splice|SEPT9_ENST00000431235.2_Splice_Site_p.R328_splice|SEPT9_ENST00000427180.1_Splice_Site_p.R380_splice|SEPT9_ENST00000585930.1_Splice_Site_p.R268_splice|SEPT9_ENST00000591088.1_Splice_Site_p.R241_splice|SEPT9_ENST00000592951.1_Splice_Site_p.R241_splice|SEPT9_ENST00000591198.1_Splice_Site_p.R473_splice	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	492					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGAAGTTCCGGGTGAGTGGA	0.557000													59	170					0	0	0.870114	0	0
FAM65B	9750	broad.mit.edu	37	6	24876029	24876029	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:24876029G>T	ENST00000538035.1	-	2	139	c.78C>A	c.(76-78)ctC>ctA	p.L26L	FAM65B_ENST00000540914.1_5'UTR|FAM65B_ENST00000259698.4_5'UTR|FAM65B_ENST00000510784.2_Silent_p.L31L|FAM65B_ENST00000378023.4_5'UTR			Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	0					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGATTTCCGGGAGTCTGGTCG	0.478000													24	22					2.39556e-15	2.87581e-15	0.639603	1	0
CNDP1	84735	broad.mit.edu	37	18	72247436	72247436	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:72247436T>C	ENST00000582365.1	+	9	1175	c.1109T>C	c.(1108-1110)cTa>cCa	p.L370P	CNDP1_ENST00000358821.3_Missense_Mutation_p.L413P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	413					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCCATGACTCTAGGACTACAC	0.423000													26	43					0	0	0.667858	0	0
ANXA7	310	broad.mit.edu	37	10	75138725	75138725	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:75138725T>A	ENST00000372921.4	-	12	1278	c.1222A>T	c.(1222-1224)Aaa>Taa	p.K408*	ANXA7_ENST00000535178.1_Nonsense_Mutation_p.K278*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	430							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CCAGCACCTTTCATAGCATAG	0.512000													8	77					0	0	0.361761	0	0
CNTN5	53942	broad.mit.edu	37	11	100211321	100211321	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:100211321T>C	ENST00000524871.1	+	22	3147	c.2857T>C	c.(2857-2859)Tac>Cac	p.Y953H	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y953H|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y953H|CNTN5_ENST00000418526.2_Missense_Mutation_p.Y879H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	953	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTGAGGGCTTACAATGGAGC	0.448000													9	26					0	0	0.307466	0	0
FSIP1	161835	broad.mit.edu	37	15	39909940	39909940	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:39909940T>C	ENST00000350221.3	-	11	1904	c.1695A>G	c.(1693-1695)atA>atG	p.I565M		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	565										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CCTCACCTGCTATTGTATTCT	0.388000													60	143					0	0	0.870114	0	0
DSP	1832	broad.mit.edu	37	6	7569464	7569464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:7569464G>T	ENST00000379802.3	+	12	1806	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	DSP_ENST00000418664.2_Nonsense_Mutation_p.E489*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	489	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACAACAACGAGCGCAGCAA	0.527000													83	91					1.13027e-35	1.4943e-35	0.870114	1	0
IGHV1-58	28464	broad.mit.edu	37	14	107078600	107078600	+	RNA	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:107078600T>A	ENST00000390628.2	-	0	184																											CCAGAAGCCTTGCAGGAGACC	0.572000													33	85					0	0	0.760397	0	0
MMD	23531	broad.mit.edu	37	17	53471830	53471830	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:53471830G>A	ENST00000262065.3	-	7	878	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	194					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CACTCTTGAAGAACACAACTC	0.453000													26	89					0	0	0.667858	0	0
MMP1	4312	broad.mit.edu	37	11	102663349	102663349	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:102663349G>A	ENST00000315274.6	-	7	1087	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	340	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TGAAAAACCGGACTTCATCTC	0.388000													30	156					0	0	0.750413	0	0
RELN	5649	broad.mit.edu	37	7	103180756	103180756	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:103180756C>T	ENST00000424685.2	-	44	6977	c.6818G>A	c.(6817-6819)gGc>gAc	p.G2273D	RELN_ENST00000343529.5_Missense_Mutation_p.G2273D|RELN_ENST00000428762.1_Missense_Mutation_p.G2273D			P78509	RELN_HUMAN	reelin	2273					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)		AATGTACCTGCCCACATTGCT	0.552000													37	115					0	0	0.819951	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141370	41141370	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:41141370G>C	ENST00000361677.1	+	3	682	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	224										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GATCATAGATGAGTTAATAAA	0.433000													22	56					0	0	0.624587	0	0
DAAM2	23500	broad.mit.edu	37	6	39838206	39838206	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39838206G>T	ENST00000538976.1	+	8	1146	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	DAAM2_ENST00000398904.2_Missense_Mutation_p.A322S|DAAM2_ENST00000274867.4_Missense_Mutation_p.A322S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	322	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACATGAAAATGCCATCCTGGA	0.517000													7	10					2.0095e-06	2.19492e-06	0.248553	1	0
GRIA2	2891	broad.mit.edu	37	4	158284070	158284070	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:158284070G>T	ENST00000296526.7	+	15	2851	c.2526G>T	c.(2524-2526)gaG>gaT	p.E842D	GRIA2_ENST00000393815.2_Missense_Mutation_p.E795D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E842D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E795D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E795D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	842					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)	CAAGGGCCGAGGCGAAACGAA	0.453000													47	84					2.13384e-23	2.72895e-23	0.870114	1	0
MIR527	574497	broad.mit.edu	37	19	54257280	54257280	+	RNA	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54257280T>C	ENST00000385244.1	+	0	9					NR_030219.1																						GATCTCAAGCTGTGACTGCAA	0.428000													52	166					0	0	0.870114	0	0
MYO1F	4542	broad.mit.edu	37	19	8587614	8587614	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:8587614G>A	ENST00000338257.8	-	26	3221	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	985				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGATGTGGACGGAGGGCCCCG	0.692000													7	25					0	0	0.248553	0	0
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K|ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413000													7	248					0.0293803	0.0300897	0.248553	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253804	39253804	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:39253804A>T	ENST00000333822.4	-	1	589	c.533T>A	c.(532-534)gTg>gAg	p.V178E		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	178						keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GGCGCAGCACACGGGGCGGGG	0.617000													2	2					0	0	0.115264	0	0
MIPOL1	145282	broad.mit.edu	37	14	37777652	37777652	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:37777652G>A	ENST00000327441.7	+	10	1222	c.756G>A	c.(754-756)aaG>aaA	p.K252K	MIPOL1_ENST00000537471.1_Silent_p.K252K|MIPOL1_ENST00000545536.1_Silent_p.K221K|MIPOL1_ENST00000556451.1_Silent_p.K221K|MIPOL1_ENST00000396294.2_Silent_p.K252K|MIPOL1_ENST00000539062.2_Silent_p.K221K|MIPOL1_ENST00000536774.1_Silent_p.K71K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	252										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACAAGACCAAGGAATGTAAAA	0.368000													46	138					0	0	0.864702	0	0
GRM3	2913	broad.mit.edu	37	7	86394654	86394654	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:86394654G>A	ENST00000361669.2	+	2	1292	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.G63R|GRM3_ENST00000439827.1_Missense_Mutation_p.G65R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	65					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAAGACCGAGGGATTCAACG	0.418000													40	142					0	0	0.812448	0	0
GALNTL6	442117	broad.mit.edu	37	4	173852403	173852403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:173852403G>T	ENST00000506823.1	+	9	1790	c.1133G>T	c.(1132-1134)gGg>gTg	p.G378V	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G361V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	378						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GTTCCATCTGGGACAAGCCTG	0.463000													53	125					6.4308e-24	8.24503e-24	0.870114	1	0
CDH9	1007	broad.mit.edu	37	5	26890582	26890582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:26890582C>A	ENST00000231021.4	-	8	1517	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	449	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGAGATGATTCCCGGTCAAGG	0.408000													58	157					4.6707e-30	6.06476e-30	0.870114	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378427	31378427	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:31378427G>A	ENST00000297142.3	-	2	778	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	152					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.I152I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTCTCTTGCCGATTCTCAGAA	0.458000													35	110					0	0	0.769981	0	0
SYNE1	23345	broad.mit.edu	37	6	152702405	152702405	+	Silent	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:152702405C>G	ENST00000367255.5	-	56	9346	c.8745G>C	c.(8743-8745)ggG>ggC	p.G2915G	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Silent_p.G2954G|SYNE1_ENST00000265368.4_Silent_p.G2915G|SYNE1_ENST00000448038.1_Silent_p.G2922G|SYNE1_ENST00000423061.1_Silent_p.G2922G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2915					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGCTCACACCCACTGGCAG	0.547000										HNSCC(10;0.0054)			100	148					0	0	0.870114	0	0
EEF2K	29904	broad.mit.edu	37	16	22271842	22271842	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:22271842A>T	ENST00000263026.5	+	11	1765	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	431					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCATCTAGACAACCACCGGGT	0.547000													55	193					0	0	0.870114	0	0
OR52D1	390066	broad.mit.edu	37	11	5510546	5510546	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:5510546A>G	ENST00000322641.5	+	1	632	c.610A>G	c.(610-612)Act>Gct	p.T204A	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATGGGCTAACTGTGGCTCT	0.493000													98	193					0	0	0.870114	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718644	140718644	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140718644C>T	ENST00000394576.2	+	1	106	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATTCTGTGCGGGAAGAGAT	0.602000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	95					0	0	0.387290	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880918	142880918	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:142880918T>A	ENST00000446620.1	+	1	407	c.407T>A	c.(406-408)tTt>tAt	p.F136Y		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	136					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTCTTCTACTTTGTGAAGATT	0.388000													63	195					0	0	0.870114	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184858	130184858	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:130184858G>T	ENST00000422113.2	-	2	791	c.465C>A	c.(463-465)gaC>gaA	p.D155E		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	155						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)		GGTCGTCCCAGTCTCTGCCCA	0.602000													15	28					1.05317e-09	1.19925e-09	0.457914	1	0
RXRG	6258	broad.mit.edu	37	1	165380004	165380004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:165380004C>T	ENST00000359842.5	-	6	1150	c.848G>A	c.(847-849)tGg>tAg	p.W283*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	283	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACGCTTGGCCCATTCAACGAG	0.493000													7	50					0	0	0.278610	0	0
USH2A	7399	broad.mit.edu	37	1	216074210	216074210	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:216074210G>A	ENST00000366943.2	-	39	7724	c.7338C>T	c.(7336-7338)gcC>gcT	p.A2446A	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.A2446A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2446	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGGAGTGGCAGATGAAA	0.517000										HNSCC(13;0.011)			26	91					0	0	0.706142	0	0
DNAH9	1770	broad.mit.edu	37	17	11515024	11515024	+	Missense_Mutation	SNP	G	G	T	rs141141277		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:11515024G>T	ENST00000262442.3	+	4	899	c.831G>T	c.(829-831)atG>atT	p.M277I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M277I|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.M277I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	277	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGGGGCATGGCCAAGCTCC	0.443000													87	66					1.72036e-36	2.28038e-36	0.870114	1	0
CDH2	1000	broad.mit.edu	37	18	25585919	25585919	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:25585919C>T	ENST00000269141.3	-	6	1164	c.741G>A	c.(739-741)gtG>gtA	p.V247V	CDH2_ENST00000399380.3_Silent_p.V216V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	247	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGGGTTCTCCACTTGATTTC	0.368000													64	129					0	0	0.870114	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433788	73433788	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:73433788G>A	ENST00000263666.4	-	10	2043	c.1929C>T	c.(1927-1929)tgC>tgT	p.C643C	PDZRN3_ENST00000466780.1_Silent_p.C300C|PDZRN3_ENST00000479530.1_Silent_p.C360C|PDZRN3_ENST00000462146.2_Silent_p.C300C|PDZRN3_ENST00000535920.1_Silent_p.C365C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	643							ubiquitin-protein ligase activity|zinc ion binding	p.C643C(1)		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)		GGAAGCGCTCGCACTCGTCCA	0.657000													34	109					0	0	0.804634	0	0
FAT2	2196	broad.mit.edu	37	5	150934053	150934053	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:150934053T>C	ENST00000261800.5	-	4	3827	c.3815A>G	c.(3814-3816)gAt>gGt	p.D1272G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1272	Cadherin 11.				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)			AAGACCCTCATCCAGGTCTGA	0.557000													39	187					0	0	0.812448	0	0
NAV3	89795	broad.mit.edu	37	12	78593221	78593221	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:78593221G>T	ENST00000397909.2	+	37	6798	c.6625G>T	c.(6625-6627)Gac>Tac	p.D2209Y	NAV3_ENST00000228327.6_Missense_Mutation_p.D2187Y|NAV3_ENST00000536525.2_Missense_Mutation_p.D2187Y|NAV3_ENST00000266692.7_Missense_Mutation_p.D2010Y|NAV3_ENST00000541270.1_Missense_Mutation_p.D39Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2209						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCGCAATAATGACCTAGTCAA	0.368000										HNSCC(70;0.22)			35	111					1.42033e-22	1.80737e-22	0.796494	1	0
ZBTB17	7709	broad.mit.edu	37	1	16272657	16272657	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:16272657G>A	ENST00000375733.2	-	5	765	c.527C>T	c.(526-528)gCg>gTg	p.A176V	ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A113V|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A176V|ZBTB17_ENST00000537142.1_Missense_Mutation_p.A94V			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	176					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCTGGCCGCACTCTGGGC	0.687000													4	145					0	0	0.150653	0	0
SCG2	7857	broad.mit.edu	37	2	224462778	224462778	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:224462778C>G	ENST00000305409.2	-	2	1455	c.1223G>C	c.(1222-1224)aGg>aCg	p.R408T		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	408					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGAGCATCCTATTTTGGAA	0.512000													67	70					0	0	0.870114	0	0
EMR1	2015	broad.mit.edu	37	19	6913820	6913820	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:6913820G>T	ENST00000312053.4	+	11	1316	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	EMR1_ENST00000250572.8_Missense_Mutation_p.A427S|EMR1_ENST00000381407.5_Missense_Mutation_p.A286S|EMR1_ENST00000450315.3_Missense_Mutation_p.A250S|EMR1_ENST00000381404.4_Missense_Mutation_p.A375S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	427	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TATCACTCCGGCTGTTCGGAC	0.498000													52	188					7.37877e-41	9.80625e-41	0.870114	1	0
MOG	4340	broad.mit.edu	37	6	29638476	29638476	+	Splice_Site	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:29638476A>G	ENST00000376894.4	+	7	827		c.e7-1		MOG_ENST00000376917.3_Splice_Site|MOG_ENST00000376888.2_Splice_Site|MOG_ENST00000416766.2_Splice_Site|MOG_ENST00000376891.4_Intron|MOG_ENST00000533330.2_Splice_Site|MOG_ENST00000483013.1_Splice_Site|MOG_ENST00000431798.2_Splice_Site|MOG_ENST00000376898.3_Splice_Site|MOG_ENST00000396701.2_Splice_Site|MOG_ENST00000396704.3_Splice_Site|MOG_ENST00000494692.1_Splice_Site|MOG_ENST00000490427.1_Splice_Site|MOG_ENST00000376902.3_Splice_Site			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTTTGTTTTCAGGGCAATTCC	0.438000													24	30					0	0	0.706142	0	0
ROBO2	6092	broad.mit.edu	37	3	77089996	77089996	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:77089996T>A	ENST00000461745.1	+	1	960	c.61_splice	c.e1+1	p.D20_splice	ROBO2_ENST00000332191.8_Splice_Site_p.D20_splice|ROBO2_ENST00000487694.3_Intron	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	20					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)		TTCGGGTTGATGGTAAGTTAA	0.363000													31	229					0	0	0.760397	0	0
YTHDF3	253943	broad.mit.edu	37	8	64098988	64098988	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:64098988G>A	ENST00000539294.1	+	4	732	c.416G>A	c.(415-417)gGa>gAa	p.G139E	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_5'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	140				S -> R (in Ref. 2; CAH56224).								Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGACAAGTGGATCTCAGGGA	0.433000													18	64					0	0	0.608945	0	0
AMY2B	280	broad.mit.edu	37	1	104115822	104115822	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104115822T>C	ENST00000361355.4	+	5	1069	c.453T>C	c.(451-453)ttT>ttC	p.F151F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	151					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATGGGATTTTAATGATGGTA	0.408000													83	896					0	0	0.870114	0	0
KIAA1109	84162	broad.mit.edu	37	4	123113395	123113395	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:123113395G>C	ENST00000264501.4	+	11	1286	c.913G>C	c.(913-915)Gaa>Caa	p.E305Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E305Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E305Q			Q2LD37	K1109_HUMAN	KIAA1109	305					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						ACTTGTTCCGGAAGAAACAGA	0.363000													14	53					0	0	0.457914	0	0
CWC22	57703	broad.mit.edu	37	2	180846600	180846600	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:180846600C>A	ENST00000410053.3	-	5	630	c.331G>T	c.(331-333)Gat>Tat	p.D111Y	CWC22_ENST00000295749.6_Missense_Mutation_p.D111Y	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	111						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GCAGGTTCATCCTGAGCAGAG	0.473000													6	30					0.0215528	0.0221177	0.217242	1	0
TCP10	6953	broad.mit.edu	37	6	167791447	167791447	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167791447G>A	ENST00000366827.2	-	4	624	c.413C>T	c.(412-414)cCa>cTa	p.P138L	TCP10_ENST00000397829.4_Missense_Mutation_p.P138L			Q12799	TCP10_HUMAN	t-complex 10	165						cytosol		p.P138Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GGTCACCTTTGGAGGAGCTAA	0.522000													42	237					0	0	0.870114	0	0
KMT2C	58508	broad.mit.edu	37	7	151970897	151970897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:151970897C>T	ENST00000355193.2	-	7	1123	c.905G>A	c.(904-906)tGt>tAt	p.C302Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.C302Y					lysine (K)-specific methyltransferase 2C									p.C302F(2)									CATCTGGGTACATTTCTCTTC	0.433000													8	330					0	0	0.307466	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													4	139					0	0	0.217242	0	0
ST14	6768	broad.mit.edu	37	11	130060396	130060396	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:130060396T>A	ENST00000278742.5	+	7	1100	c.682T>A	c.(682-684)Ttc>Atc	p.F228I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	228	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCTGATGCGCTTCACCACGCC	0.697000													9	67					0	0	0.361761	0	0
ZNF43	7594	broad.mit.edu	37	19	21992324	21992324	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21992324T>G	ENST00000594012.1	-	7	1011	c.497A>C	c.(496-498)aAa>aCa	p.K166T	ZNF43_ENST00000598381.1_Missense_Mutation_p.K166T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K172T|ZNF43_ENST00000595461.1_Missense_Mutation_p.K166T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTGAAAAGTTTTTTTTCAGT	0.313000													4	61					0	0	0.150653	0	0
ELF2	1998	broad.mit.edu	37	4	139981705	139981705	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:139981705A>G	ENST00000394235.2	-	9	1396	c.894T>C	c.(892-894)gaT>gaC	p.D298D	ELF2_ENST00000265495.4_Silent_p.D298D|ELF2_ENST00000358635.3_Silent_p.D250D|ELF2_ENST00000379550.1_Silent_p.D310D|ELF2_ENST00000510408.1_Silent_p.D238D|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379549.2_Silent_p.D221D	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	310					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TTCCTGCTAAATCTTCATTAC	0.393000													48	211					0	0	0.864702	0	0
LTBP3	4054	broad.mit.edu	37	11	65310657	65310657	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:65310657C>A	ENST00000301873.5	-	18	2783	c.2515G>T	c.(2515-2517)Ggt>Tgt	p.G839C	LTBP3_ENST00000322147.4_Missense_Mutation_p.G839C|LTBP3_ENST00000532932.1_Missense_Mutation_p.G269C|LTBP3_ENST00000536982.1_Missense_Mutation_p.G465C|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	839	Cys-rich.|EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ATGCAGTCACCCCCAATGCAG	0.582000													22	136					0.012319	0.0127188	0.608945	1	0
RPTOR	57521	broad.mit.edu	37	17	78820280	78820280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:78820280C>T	ENST00000306801.3	+	11	1582	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RPTOR_ENST00000544334.2_Missense_Mutation_p.P407L|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.P222L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	407					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGCACAGCCCGTTCTTCGCC	0.632000													5	166					0	0	0.217242	0	0
FAM105B	90268	broad.mit.edu	37	5	14678802	14678802	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:14678802G>T	ENST00000284274.4	+	3	320	c.242G>T	c.(241-243)aGc>aTc	p.S81I		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	81										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CCGAGATTAAGCGTAGCTCCT	0.358000													9	36					2.17888e-05	2.34968e-05	0.335167	1	0
KIAA1432	57589	broad.mit.edu	37	9	5763586	5763586	+	Silent	SNP	A	A	G	rs147383296		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5763586A>G	ENST00000414202.2	+	19	2750	c.2559A>G	c.(2557-2559)acA>acG	p.T853T	KIAA1432_ENST00000251879.6_Silent_p.T853T|KIAA1432_ENST00000381532.2_Silent_p.T774T|KIAA1432_ENST00000449720.2_Silent_p.T737T|KIAA1432_ENST00000418622.3_Silent_p.T774T	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	853						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCTGTGCCACATTACCTTACT	0.537000													30	127					0	0	0.760397	0	0
PCDH18	54510	broad.mit.edu	37	4	138452014	138452014	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:138452014G>A	ENST00000344876.4	-	1	1615	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PCDH18_ENST00000412923.2_Missense_Mutation_p.T410I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T190I	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	410	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTTTTCATATGTCTTCTGAAG	0.393000													31	150					0	0	0.750413	0	0
IGSF9	57549	broad.mit.edu	37	1	159897613	159897613	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:159897613G>A	ENST00000368094.1	-	20	3492	c.3295C>T	c.(3295-3297)Ctg>Ttg	p.L1099L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Silent_p.L1083L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1099						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGTCTCCAGCAATTCCATG	0.527000													32	103					0	0	0.750413	0	0
FOXO4	4303	broad.mit.edu	37	X	70321491	70321491	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:70321491G>C	ENST00000374259.3	+	2	1743	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H	FOXO4_ENST00000341558.3_Missense_Mutation_p.D416H	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	471					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCAGGATCTAGATCTTGATAT	0.527000													46	42					0	0	0.859065	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415951	25415951	+	RNA	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:25415951C>A	ENST00000549301.1	+	0	327				SNORD115-1_ENST00000364961.1_RNA|SNHG14_ENST00000553149.1_RNA																							CGCTGAGGCCCAGCCTAGGTG	0.527000													95	289					2.72676e-27	3.5316e-27	0.870114	1	0
TSR1	55720	broad.mit.edu	37	17	2238908	2238908	+	Silent	SNP	C	C	T	rs139241652		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:2238908C>T	ENST00000301364.4	-	3	1397	c.318G>A	c.(316-318)agG>agA	p.R106R		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	106					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTCCAGTGTCCCTATCTTGAA	0.542000													4	153					0	0	0.150653	0	0
SLC28A2	9153	broad.mit.edu	37	15	45557355	45557355	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:45557355T>A	ENST00000347644.3	+	8	836	c.771T>A	c.(769-771)ttT>ttA	p.F257L	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	257					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGGATGTCTTTGCTTTTCAGG	0.438000													9	246					0	0	0.335167	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114205170	114205170	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:114205170T>C	ENST00000369405.3	-	2	448	c.25A>G	c.(25-27)Aag>Gag	p.K9E	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.K9E	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	9						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TTTTCAAACTTGATAACCGAA	0.398000													3	88					0	0	0.150653	0	0
LCE2B	26239	broad.mit.edu	37	1	152659331	152659331	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:152659331G>A	ENST00000368780.3	+	2	66	c.12G>A	c.(10-12)caG>caA	p.Q4Q	LCE2B_ENST00000417924.2_Silent_p.Q4Q	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	4	Cys-rich.				keratinization			p.Q4Q(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTGCCAGCAAAACCAGC	0.458000													4	217					0	0	0.150653	0	0
OR4C16	219428	broad.mit.edu	37	11	55339628	55339628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55339628G>T	ENST00000314634.3	+	1	25	c.25G>T	c.(25-27)Gag>Tag	p.E9*		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TAATGTGACTGAGTTCATTCT	0.373000													5	114					4.68919e-08	5.21135e-08	0.361761	1	0
ANK2	287	broad.mit.edu	37	4	114278087	114278087	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:114278087C>T	ENST00000357077.4	+	38	8366	c.8313C>T	c.(8311-8313)atC>atT	p.I2771I	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.I2738I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2738					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCCAAAAATCTGTGATGGCC	0.478000													21	86					0	0	0.575678	0	0
KTN1	3895	broad.mit.edu	37	14	56114744	56114744	+	Splice_Site	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:56114744A>C	ENST00000416613.1	+	19	2281	c.2207_splice	c.e19-1	p.I737_splice	KTN1_ENST00000395314.3_Splice_Site_p.I737_splice|KTN1_ENST00000554507.1_Splice_Site_p.I32_splice|KTN1_ENST00000395309.3_Splice_Site_p.I737_splice|KTN1_ENST00000395311.1_Splice_Site_p.I737_splice|KTN1_ENST00000438792.2_Splice_Site_p.I737_splice|KTN1_ENST00000395308.1_Splice_Site_p.I737_splice|KTN1_ENST00000413890.2_Splice_Site_p.I737_splice			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	737					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAATTTCAGCATTCAAGAAAA	0.279000			T	RET	papillary thryoid								10	63					0	0	0.335167	0	0
POTEG	404785	broad.mit.edu	37	14	19553607	19553607	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19553607G>T	ENST00000409832.3	+	1	243	c.191G>T	c.(190-192)tGg>tTg	p.W64L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	64										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATGGGCAAGTGGTGCCGCCAC	0.597000													29	523					3.76604e-16	4.56408e-16	0.853193	1	0
SLC44A3	126969	broad.mit.edu	37	1	95322999	95322999	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:95322999T>A	ENST00000271227.6	+	10	1283	c.1181T>A	c.(1180-1182)aTc>aAc	p.I394N	SLC44A3_ENST00000527077.1_Missense_Mutation_p.I326N|SLC44A3_ENST00000532427.1_Missense_Mutation_p.I314N|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.I358N|SLC44A3_ENST00000467909.1_Missense_Mutation_p.I346N|SLC44A3_ENST00000529450.1_Missense_Mutation_p.I362N	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	394						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGTGAATTCATCCTTGCGTGC	0.448000													64	166					0	0	0.870114	0	0
DLG2	1740	broad.mit.edu	37	11	83673957	83673957	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:83673957C>A	ENST00000398309.2	-	9	1466	c.996G>T	c.(994-996)aaG>aaT	p.K332N	DLG2_ENST00000330014.6_Missense_Mutation_p.K271N|DLG2_ENST00000280241.8_Missense_Mutation_p.K371N|DLG2_ENST00000532653.1_Missense_Mutation_p.K332N|DLG2_ENST00000537455.1_Missense_Mutation_p.K86N|DLG2_ENST00000418306.2_Missense_Mutation_p.K281N|DLG2_ENST00000398301.2_Missense_Mutation_p.K371N|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000376104.2_Missense_Mutation_p.K437N|DLG2_ENST00000543673.1_Missense_Mutation_p.K437N|DLG2_ENST00000531015.1_Missense_Mutation_p.K299N|DLG2_ENST00000524982.1_Missense_Mutation_p.K332N	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	332						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAAGCATGTGCTTTGGAATTG	0.428000													73	189					1.1397e-45	1.5266e-45	0.870114	1	0
WDR73	84942	broad.mit.edu	37	15	85197483	85197483	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:85197483A>T	ENST00000434634.2	-	1	83	c.23T>A	c.(22-24)cTg>cAg	p.L8Q	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	8										cervix(1)|large_intestine(1)|lung(1)	3						GGATTCCACCAGCCAGTCGTC	0.677000													34	136					0	0	0.859065	0	0
CMTM5	116173	broad.mit.edu	37	14	23846490	23846490	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:23846490G>A	ENST00000359320.3	+	1	474	c.30G>A	c.(28-30)cgG>cgA	p.R10R	CMTM5_ENST00000339180.4_Silent_p.R10R|CMTM5_ENST00000382809.2_Silent_p.R10R|CMTM5_ENST00000555731.1_Silent_p.R10R|CMTM5_ENST00000342473.4_Silent_p.R10R|CMTM5_ENST00000397227.3_Silent_p.R10R	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	10					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCGGGACCGGCACCCTGAGG	0.602000													4	161					0	0	0.217242	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565248	58565248	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:58565248C>A	ENST00000282326.1	+	6	1303	c.1056C>A	c.(1054-1056)ccC>ccA	p.P352P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	352					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AGAAAGCCCCCCGGAGCAAGG	0.662000													11	65					1.58986e-06	1.74405e-06	0.361761	1	0
C14orf166B	145497	broad.mit.edu	37	14	77327047	77327047	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:77327047G>T	ENST00000393774.3	+	11	1240	c.1116G>T	c.(1114-1116)gtG>gtT	p.V372V		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	372										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACGTGCTGGTGTCCGAGCAGT	0.577000													16	73					1.02788e-11	1.19724e-11	0.520397	1	0
CCNB1	891	broad.mit.edu	37	5	68473452	68473452	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:68473452G>A	ENST00000256442.5	+	9	1549	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	432					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTGTGGCAAAGGTGTAACTTG	0.383000													22	140					0	0	0.592651	0	0
TPTE	7179	broad.mit.edu	37	21	10952935	10952935	+	Missense_Mutation	SNP	T	T	C	rs146617486	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10952935T>C	ENST00000298232.7	-	8	575	c.208A>G	c.(208-210)Att>Gtt	p.I70V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.I88V|TPTE_ENST00000342420.5_Missense_Mutation_p.I50V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	88					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATGATACAATTGAATGCACA	0.323000													19	154					0	0	0.717897	0	0
NEFM	4741	broad.mit.edu	37	8	24771549	24771549	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:24771549G>T	ENST00000221166.5	+	1	1025	c.243G>T	c.(241-243)tcG>tcT	p.S81S	NEFM_ENST00000437366.2_Silent_p.S81S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.S81S			P07197	NFM_HUMAN	neurofilament, medium polypeptide	81	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCAGTCCTCGTCCCTGCTCA	0.662000													11	27					2.49675e-24	3.21733e-24	0.717897	1	0
MME	4311	broad.mit.edu	37	3	154859798	154859798	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154859798T>G	ENST00000460393.1	+	11	1096	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	MME_ENST00000492661.1_Missense_Mutation_p.F326V|MME_ENST00000493237.1_Missense_Mutation_p.F326V|MME_ENST00000462745.1_Missense_Mutation_p.F326V|MME_ENST00000360490.2_Missense_Mutation_p.F326V	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	326					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGGTTGAATTTCACAAATGA	0.358000													58	133					0	0	0.870114	0	0
TMTC3	160418	broad.mit.edu	37	12	88589095	88589095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:88589095A>G	ENST00000266712.6	+	14	2634	c.2414A>G	c.(2413-2415)gAa>gGa	p.E805G		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	806						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCACATGAAGAATATATTCAG	0.348000													57	125					0	0	0.870114	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182431	140182431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140182431C>T	ENST00000522353.2	+	1	1649	c.1649C>T	c.(1648-1650)aCg>aTg	p.T550M	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T550M|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACGTGACGCTGCAGGTG	0.687000													26	108					0	0	0.717897	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998655	27998655	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:27998655C>T	ENST00000441525.1	-	1	911	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	266										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTCTGCTACCCGTACCTGTCC	0.493000													27	40					0	0	0.693898	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762230	23762230	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:23762230C>A	ENST00000380110.4	-	3	157	c.90G>T	c.(88-90)atG>atT	p.M30I	ELAVL2_ENST00000380117.1_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000223951.6_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000397312.2_Start_Codon_SNP_p.M1I|ELAVL2_ENST00000544538.1_Start_Codon_SNP_p.M1I			Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	1					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTGTGTTTCCATGGCAGCAA	0.403000													121	301					3.28517e-43	4.38885e-43	0.870114	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276971	71276971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:71276971G>A	ENST00000398531.1	+	1	363	c.338G>A	c.(337-339)gGc>gAc	p.G113D	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	113	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAAGGGGGGCTGTGGCTCC	0.657000													5	168					0	0	0.184627	0	0
DAAM2	23500	broad.mit.edu	37	6	39855276	39855276	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:39855276C>T	ENST00000538976.1	+	16	2150	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000398904.2_Silent_p.S656S|DAAM2_ENST00000274867.4_Silent_p.S656S	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	656	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGCTGGGCTCCACTGAAGACA	0.542000													10	50					0	0	0.361761	0	0
OR13C8	138802	broad.mit.edu	37	9	107332082	107332082	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:107332082T>G	ENST00000335040.1	+	1	634	c.634T>G	c.(634-636)Tta>Gta	p.L212V		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATTCCATTGTTAGTAATTTC	0.403000													53	139					0	0	0.870114	0	0
LAMC1	3915	broad.mit.edu	37	1	183105651	183105651	+	Silent	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183105651T>G	ENST00000258341.4	+	25	4502	c.4245T>G	c.(4243-4245)gcT>gcG	p.A1415A		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1415	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGGCAGTGCTGCGGCGGATG	0.592000													4	53					0	0	0.184627	0	0
GPR88	54112	broad.mit.edu	37	1	101004651	101004651	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:101004651C>A	ENST00000315033.4	+	2	568	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	43						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTGGCCATCGGGGGCACGC	0.667000													3	22					0.115264	0.117574	0.115264	1	0
DYRK3	8444	broad.mit.edu	37	1	206821624	206821624	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206821624T>G	ENST00000367106.1	+	4	1494	c.1021T>G	c.(1021-1023)Ttc>Gtc	p.F341V	DYRK3_ENST00000367108.3_Missense_Mutation_p.F341V|DYRK3_ENST00000367109.2_Missense_Mutation_p.F361V|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	361	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCCAGCTGTTTCGAGTACCA	0.453000													12	188					0	0	0.411799	0	0
CEP57	9702	broad.mit.edu	37	11	95564303	95564303	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:95564303G>A	ENST00000325542.5	+	11	1624	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	CEP57_ENST00000325486.5_Silent_p.K436K|CEP57_ENST00000541150.1_Silent_p.K453K|CEP57_ENST00000537677.1_Silent_p.K435K	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	462	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCACAAATAAGAAAGATTTTA	0.363000									Mosaic Variegated Aneuploidy Syndrome				9	60					0	0	0.411799	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717807	142717807	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:142717807A>G	ENST00000381779.4	-	2	1343	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.I373T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.I373T	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	373	LRRNT.					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)					AGGTTTCGGTATCAGTTCAGA	0.443000													103	76					0	0	0.870114	0	0
FAM198B	51313	broad.mit.edu	37	4	159076833	159076833	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076833G>C	ENST00000296530.8	-	3	1676	c.1055C>G	c.(1054-1056)cCt>cGt	p.P352R	FAM198B_ENST00000393807.5_Missense_Mutation_p.P360R|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.P352R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	352						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ACCCGATTCAGGCTTGGGTAC	0.413000													5	72					0	0	0.457914	0	0
ZNF429	353088	broad.mit.edu	37	19	21720875	21720875	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:21720875G>T	ENST00000358491.4	+	4	2228	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						agaccgtcctggctaacatgg	0.493000													3	18					0.004672	0.00484327	0.115264	1	0
KALRN	8997	broad.mit.edu	37	3	124438313	124438313	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:124438313C>T	ENST00000360013.3	+	60	9084	c.8957C>T	c.(8956-8958)aCg>aTg	p.T2986M	KALRN_ENST00000291478.4_Missense_Mutation_p.T1289M|KALRN_ENST00000428018.2_Missense_Mutation_p.T1257M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2985					apoptosis|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|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AACCAAGGGACGTAGCCATCT	0.483000													32	48					0	0	0.750413	0	0
SLIT2	9353	broad.mit.edu	37	4	20550181	20550181	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:20550181T>A	ENST00000504154.1	+	23	2668	c.2417_splice	c.e23+1	p.L806_splice	SLIT2_ENST00000503823.1_Splice_Site_p.L798_splice|SLIT2_ENST00000273739.5_Splice_Site_p.L810_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Splice_Site_p.L802_splice	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	806					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						GCTCCTCACCTTGTGAGTGTG	0.403000													28	72					0	0	0.760397	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033433	95033433	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:95033433G>A	ENST00000557004.1	+	3	1197	c.776G>A	c.(775-777)aGa>aAa	p.R259K	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R259K|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R259K			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	259					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTCATGACAGATACTTGCCC	0.488000													30	74					0	0	0.717897	0	0
LRRC6	23639	broad.mit.edu	37	8	133622460	133622460	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:133622460A>G	ENST00000519595.1	-	10	1190	c.1092T>C	c.(1090-1092)tcT>tcC	p.S364S	LRRC6_ENST00000250173.1_Silent_p.S364S|LRRC6_ENST00000518642.1_Silent_p.S361S			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	364	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTTTTAGCAGAACTACTAT	0.428000													42	186					0	0	0.870114	0	0
BRD9	65980	broad.mit.edu	37	5	884145	884145	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:884145C>T	ENST00000323510.4	-	5	585	c.586G>A	c.(586-588)Gac>Aac	p.D196N	BRD9_ENST00000388890.4_Missense_Mutation_p.D176N|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000467963.1_Missense_Mutation_p.D292N|BRD9_ENST00000483173.1_Missense_Mutation_p.D239N|BRD9_ENST00000435709.2_Missense_Mutation_p.D176N			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	292	Bromo.						nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCGGTACTGTCCGTCAAGCTG	0.632000													23	75					0	0	0.639603	0	0
DAB1	1600	broad.mit.edu	37	1	57537304	57537304	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:57537304A>G	ENST00000371236.2	-	6	712	c.449T>C	c.(448-450)gTt>gCt	p.V150A	DAB1_ENST00000420954.2_Missense_Mutation_p.V150A|DAB1_ENST00000371234.4_Missense_Mutation_p.V150A|DAB1_ENST00000371231.1_Missense_Mutation_p.V150A|DAB1_ENST00000371230.1_Missense_Mutation_p.V150A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Missense_Mutation_p.V150A|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	150	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTCCAGAATAACAGGTTCAGC	0.418000													21	48					0	0	0.575678	0	0
KLHL23	151230	broad.mit.edu	37	2	170598005	170598005	+	Missense_Mutation	SNP	G	G	A	rs140221414		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:170598005G>A	ENST00000392647.2	+	3	1568	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	KLHL23_ENST00000602521.1_5'UTR|KLHL23_ENST00000272797.4_Missense_Mutation_p.D442N	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	442										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTACAATTCCGATATCAACGA	0.433000													12	122					0	0	0.387290	0	0
NELL1	4745	broad.mit.edu	37	11	21581766	21581766	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:21581766C>T	ENST00000298925.5	+	18	2055	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	NELL1_ENST00000529218.1_Intron|NELL1_ENST00000357134.5_Silent_p.T606T|NELL1_ENST00000325319.5_Silent_p.T549T|NELL1_ENST00000532434.1_Silent_p.T559T			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	606	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAACTCACACCTGTTGGAACG	0.502000													66	130					0	0	0.870114	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811076	140811076	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140811076C>A	ENST00000252085.3	+	1	892	c.750C>A	c.(748-750)agC>agA	p.S250R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCGAGCGTTCCGGAGA	0.627000													31	68					2.70662e-09	3.06149e-09	0.740014	1	0
JAK2	3717	broad.mit.edu	37	9	5054676	5054676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:5054676G>A	ENST00000381652.3	+	7	1222	c.728G>A	c.(727-729)tGc>tAc	p.C243Y	JAK2_ENST00000544510.1_Missense_Mutation_p.C94Y|JAK2_ENST00000539801.1_Missense_Mutation_p.C243Y	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	243	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTCAGCCAATGCAAAGCCACT	0.368000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				70	164					0	0	0.870114	0	0
DPP6	1804	broad.mit.edu	37	7	154681008	154681008	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:154681008C>T	ENST00000404039.1	+	24	2726	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S	DPP6_ENST00000332007.3_Silent_p.S715S|DPP6_ENST00000377770.3_Silent_p.S777S|DPP6_ENST00000427557.1_Silent_p.S670S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	777					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCGAGTCTCCGCGCTGGAAG	0.537000													8	16					0	0	0.335167	0	0
FAM115A	9747	broad.mit.edu	37	7	143573297	143573297	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:143573297T>C	ENST00000479870.1	-	2	613	c.405A>G	c.(403-405)acA>acG	p.T135T	FAM115A_ENST00000355951.2_Silent_p.T135T|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	135										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CCAGCTTTTCTGTCATGGTTT	0.507000													62	128					0	0	0.870114	0	0
MAP10	54627	broad.mit.edu	37	1	232941433	232941433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:232941433G>C	ENST00000418460.1	+	1	791	c.664G>C	c.(664-666)Gcc>Ccc	p.A222P		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		CGCTCCCGCCGCCGAACCGTG	0.731000													4	20					0	0	0.217242	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32128565	32128565	+	Splice_Site	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:32128565T>C	ENST00000311380.4	-	5	1248	c.1230_splice	c.e5+1	p.T410_splice	ARHGAP12_ENST00000396144.4_Splice_Site_p.T457_splice|ARHGAP12_ENST00000344936.2_Splice_Site_p.T457_splice|ARHGAP12_ENST00000375250.5_Intron|ARHGAP12_ENST00000375245.4_Splice_Site_p.T410_splice	NM_001270697.1|NM_001270699.1	NP_001257626.1|NP_001257628.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T457T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCATACTAACTGTATCTTGGT	0.328000													32	73					0	0	0.779181	0	0
AMY2B	280	broad.mit.edu	37	1	104114736	104114736	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:104114736C>G	ENST00000361355.4	+	4	789	c.173C>G	c.(172-174)tCt>tGt	p.S58C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	58					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGTAGGTCTCTCCACCAAAT	0.313000													50	282					0	0	0.870114	0	0
DCC	1630	broad.mit.edu	37	18	50278744	50278744	+	Splice_Site	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:50278744G>T	ENST00000442544.2	+	2	1028	c.412_splice	c.e2+1	p.G138_splice	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	138					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)		TGCAGTAGCAGGTAGGTGGAT	0.403000													20	50					6.33239e-15	7.54844e-15	0.592651	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125643874	125643874	+	RNA	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:125643874C>T	ENST00000485843.1	+	0	398					NR_024251.1																						GGCTGCCTGCCGGGAGCACCA	0.602000													18	74					0	0	0.539581	0	0
IFNW1	3467	broad.mit.edu	37	9	21141013	21141013	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:21141013C>G	ENST00000380229.2	-	1	1131	c.557G>C	c.(556-558)aGa>aCa	p.R186T		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	186					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCTTTACTTCTCAGTCTTTC	0.378000													20	110					0	0	0.575678	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68123821	68123821	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:68123821A>G	ENST00000262215.3	-	34	5105	c.4716T>C	c.(4714-4716)atT>atC	p.I1572I	ARFGEF1_ENST00000518230.1_Silent_p.I410I|ARFGEF1_ENST00000520381.1_Silent_p.I1026I	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1572					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGAATCATGAATATCTACAG	0.323000													35	65					0	0	0.796494	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			34	36					0	0	0.760397	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727662	154727662	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:154727662G>C	ENST00000607772.1	-	13	2038	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	CNKSR3_ENST00000433165.2_Missense_Mutation_p.D323E|CNKSR3_ENST00000479339.1_Missense_Mutation_p.D418E	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	498	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTCGGATGTAGTCCGCACCCC	0.567000													44	94					0	0	0.864702	0	0
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158669837G>C	ENST00000359610.2	-	1	649	c.606C>G	c.(604-606)gtC>gtG	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483000													33	115					0	0	0.769981	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170592	90170592	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90170592G>T	ENST00000333209.3	-	2	1188	c.670C>A	c.(670-672)Cag>Aag	p.Q224K		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	224										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ATGGCTCCCTGCCTTTCCCCT	0.537000													41	80					4.14481e-20	5.19632e-20	0.819951	1	0
HIVEP1	3096	broad.mit.edu	37	6	12125336	12125336	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:12125336G>A	ENST00000379388.2	+	4	5640	c.5308G>A	c.(5308-5310)Gga>Aga	p.G1770R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1770					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGATGAAAATGGAGCTGTTTG	0.423000													129	130					0	0	0.870114	0	0
DCHS2	54798	broad.mit.edu	37	4	155156538	155156538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156538G>C	ENST00000357232.3	-	25	7900	c.7901C>G	c.(7900-7902)tCa>tGa	p.S2634*		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2634					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGGAGTTTGAGTGTCTGTA	0.463000													45	94					0	0	0.870114	0	0
PRMT6	55170	broad.mit.edu	37	1	107600360	107600360	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:107600360C>G	ENST00000361318.5	+	1	1094	c.846C>G	c.(844-846)atC>atG	p.I282M	PRMT6_ENST00000370078.1_Missense_Mutation_p.I341M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	341					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CAGGAGAGATCACGCTGCTGC	0.617000													9	45					0	0	0.387290	0	0
OR5M3	219482	broad.mit.edu	37	11	56237559	56237559	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:56237559A>G	ENST00000312240.2	-	1	455	c.415T>C	c.(415-417)Tgt>Cgt	p.C139R		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCGAATACAGACAACCCTT	0.398000													67	130					0	0	0.870114	0	0
LRP4	4038	broad.mit.edu	37	11	46896618	46896618	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:46896618G>A	ENST00000378623.1	-	28	4204	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1321					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCAGAGGTGGGAGCAGCCGCC	0.547000													13	28					0	0	0.479597	0	0
TEKT2	27285	broad.mit.edu	37	1	36552864	36552864	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:36552864G>T	ENST00000207457.3	+	7	934	c.807G>T	c.(805-807)ctG>ctT	p.L269L		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	269					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAGCGGCTGCGGGAGATGG	0.542000													13	50					2.61681e-11	3.03407e-11	0.457914	1	0
ECHDC3	79746	broad.mit.edu	37	10	11805415	11805415	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:11805415G>A	ENST00000379215.4	+	5	995	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	262						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GCTGCCCCAGGACCTGGGGAC	0.637000													25	55					0	0	0.693898	0	0
AGBL5	60509	broad.mit.edu	37	2	27281352	27281352	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:27281352C>T	ENST00000360131.4	+	10	1915	c.1756C>T	c.(1756-1758)Ctt>Ttt	p.L586F	AGBL5_ENST00000323064.8_Missense_Mutation_p.L586F	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	586					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACAGCAGCCTTACTAATCT	0.557000													47	115					0	0	0.864702	0	0
ZIC2	7546	broad.mit.edu	37	13	100637292	100637292	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr13:100637292G>A	ENST00000376335.3	+	2	1461	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	390					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D390Y(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACACCTCCGATAAGCCCTA	0.627000													47	48					0	0	0.870114	0	0
PRDM12	59335	broad.mit.edu	37	9	133542106	133542106	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:133542106C>A	ENST00000253008.2	+	2	395	c.335C>A	c.(334-336)aCc>aAc	p.T112N		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	112	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		AAGGCGGGAACCGAGATGGGC	0.647000													36	125					6.07928e-31	7.93424e-31	0.847076	1	0
TPTE	7179	broad.mit.edu	37	21	10934071	10934071	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:10934071G>C	ENST00000298232.7	-	15	1219	c.852C>G	c.(850-852)atC>atG	p.I284M	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.I302M|TPTE_ENST00000342420.5_Missense_Mutation_p.I264M	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313000													41	280					0	0	0.840704	0	0
CSH1	1442	broad.mit.edu	37	17	61972821	61972821	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:61972821C>A	ENST00000329882.8	-	4	538	c.468G>T	c.(466-468)gcG>gcT	p.A156A	CSH1_ENST00000316193.8_Intron|CSH1_ENST00000453363.3_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACCCCTGGCGCCACCCTCA	0.567000									Russell-Silver syndrome				52	140					2.48254e-18	3.06702e-18	0.870114	1	0
FDFT1	2222	broad.mit.edu	37	8	11666366	11666366	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:11666366G>A	ENST00000220584.4	+	2	385	c.163G>A	c.(163-165)Gca>Aca	p.A55T	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.A55T|FDFT1_ENST00000530664.1_5'UTR|FDFT1_ENST00000525900.1_Missense_Mutation_p.A48T|FDFT1_ENST00000528812.1_5'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	55					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TCGCAGTTTCGCAGCTGTTAT	0.572000													16	20					0	0	0.520397	0	0
WDR17	116966	broad.mit.edu	37	4	177052768	177052768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:177052768C>T	ENST00000393643.2	+	7	1229	c.977C>T	c.(976-978)cCa>cTa	p.P326L	WDR17_ENST00000507824.2_Missense_Mutation_p.P333L|WDR17_ENST00000280190.4_Missense_Mutation_p.P350L|WDR17_ENST00000508596.1_Missense_Mutation_p.P326L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	350										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTCCACCCCCAACTTTAACA	0.383000													82	230					0	0	0.870114	0	0
OR10A5	144124	broad.mit.edu	37	11	6867339	6867339	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6867339G>T	ENST00000299454.4	+	1	457	c.426G>T	c.(424-426)cgG>cgT	p.R142R	OR10A5_ENST00000379831.2_Silent_p.R146R			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGGACACGGGCCAAACTGG	0.537000													16	194					2.35188e-11	2.73312e-11	0.539581	1	0
SUN1	23353	broad.mit.edu	37	7	893209	893209	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:893209G>T	ENST00000456758.2	+	16	1784	c.1784G>T	c.(1783-1785)gGg>gTg	p.G595V	SUN1_ENST00000401592.1_Missense_Mutation_p.G406V|SUN1_ENST00000425407.2_Missense_Mutation_p.G323V|SUN1_ENST00000452783.2_Missense_Mutation_p.G303V|SUN1_ENST00000389574.3_Missense_Mutation_p.G323V|SUN1_ENST00000413514.2_Missense_Mutation_p.G215V|SUN1_ENST00000405266.1_Missense_Mutation_p.G443V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	433					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGCTGCCGGGCCGTCAGCT	0.647000													18	58					7.41877e-09	8.33588e-09	0.608945	1	0
CNTD1	124817	broad.mit.edu	37	17	40951132	40951132	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:40951132A>G	ENST00000588408.1	+	1	323	c.47A>G	c.(46-48)cAg>cGg	p.Q16R	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	16										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GTTGACTTTCAGTTTGGAGTT	0.607000													3	70					0	0	0.115264	0	0
PDE8B	8622	broad.mit.edu	37	5	76607880	76607880	+	Splice_Site	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:76607880T>A	ENST00000264917.5	+	2	444		c.e2+2		PDE8B_ENST00000346042.3_Splice_Site|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTATTCAGGTACGCCTCCTT	0.463000													28	192					0	0	0.729181	0	0
WNT7A	7476	broad.mit.edu	37	3	13916474	13916474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:13916474G>A	ENST00000285018.4	-	2	572	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	90					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AAGACGGTGCGCTCTCCCAGT	0.582000													15	38					0	0	0.500413	0	0
FBXL13	222235	broad.mit.edu	37	7	102553619	102553619	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:102553619G>A	ENST00000393772.2	-	11	1348	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	FBXL13_ENST00000379306.3_Missense_Mutation_p.R308W|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.R308W|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R308W|FBXL13_ENST00000313221.4_Missense_Mutation_p.R308W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R308W|FBXL13_ENST00000436908.1_Missense_Mutation_p.R308W|FBXL13_ENST00000456695.1_Missense_Mutation_p.R308W			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	308										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGTGAACCGTCTGCAATAA	0.438000													19	102					0	0	0.592651	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	173					0	0	0.115264	0	0
INTS7	25896	broad.mit.edu	37	1	212118271	212118271	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:212118271A>G	ENST00000366994.3	-	19	2560	c.2456T>C	c.(2455-2457)aTt>aCt	p.I819T	INTS7_ENST00000366993.3_Missense_Mutation_p.I805T|INTS7_ENST00000440600.2_Missense_Mutation_p.I770T|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.I799T	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGACAGCAATGGGCTCTGC	0.512000													23	72					0	0	0.639603	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350888	120350888	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:120350888G>A	ENST00000397843.2	+	38	4152	c.3986G>A	c.(3985-3987)cGg>cAg	p.R1329Q	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R1226Q|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R1310Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1329					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACAGTCCACGGACTTCAACT	0.448000			T	MLL	AML								40	166					0	0	0.853193	0	0
ITGAX	3687	broad.mit.edu	37	16	31373420	31373420	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:31373420G>A	ENST00000268296.4	+	11	1232	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ITGAX_ENST00000562522.1_Missense_Mutation_p.G371R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	371					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCTGTGGGGAGCTTCAC	0.567000													82	252					0	0	0.870114	0	0
OR5C1	392391	broad.mit.edu	37	9	125551651	125551651	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:125551651C>T	ENST00000373680.2	+	1	502	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTATGCCTGGCCTTGCTGGGA	0.572000													40	74					0	0	0.847076	0	0
OR7D4	125958	broad.mit.edu	37	19	9324750	9324750	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:9324750C>A	ENST00000308682.2	-	1	792	c.764G>T	c.(763-765)gGa>gTa	p.G255V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACCCCAAGTCCTGTTCCATA	0.537000													19	85					5.35267e-07	5.8972e-07	0.557998	1	0
CACNA1F	778	broad.mit.edu	37	X	49075889	49075889	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:49075889G>T	ENST00000376265.2	-	21	2658	c.2597C>A	c.(2596-2598)aCc>aAc	p.T866N	CACNA1F_ENST00000323022.5_Missense_Mutation_p.T855N|CACNA1F_ENST00000376251.1_Missense_Mutation_p.T801N	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	866					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGGATGAGGGTGTGGCAGCC	0.567000													5	7					0.00198382	0.00206496	0.248553	1	0
MKRN3	7681	broad.mit.edu	37	15	23811560	23811560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:23811560C>A	ENST00000314520.3	+	1	1107	c.631C>A	c.(631-633)Ccc>Acc	p.P211T	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	211						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCAGGGCAGCCCTACCGGGG	0.597000													12	46					6.40141e-05	6.84521e-05	0.387290	1	0
CFAP54	144535	broad.mit.edu	37	12	97137303	97137303	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:97137303A>G	ENST00000524981.3	+	20	2696	c.2696A>G	c.(2695-2697)aAg>aGg	p.K899R				Q6ZTY8	CL063_HUMAN		873										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTACAAGAAAAGCATTTAAAG	0.433000													3	135					0	0	0.150653	0	0
FER1L6	654463	broad.mit.edu	37	8	125052147	125052147	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:125052147C>T	ENST00000522917.1	+	20	2695	c.2489C>T	c.(2488-2490)gCt>gTt	p.A830V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A830V|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	830	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGCTGAGGGCTCACATGTAC	0.507000													68	106					0	0	0.870114	0	0
MYH2	4620	broad.mit.edu	37	17	10429179	10429179	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:10429179T>A	ENST00000245503.5	-	31	4586	c.4202A>T	c.(4201-4203)cAg>cTg	p.Q1401L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1401L|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1401					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGCAGCCGCTGGGCCAGCTT	0.473000													14	70					0	0	0.479597	0	0
COL5A2	1290	broad.mit.edu	37	2	189927938	189927938	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:189927938T>A	ENST00000374866.3	-	27	2103	c.1829A>T	c.(1828-1830)cAg>cTg	p.Q610L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	610					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GCTCCCGGGCTGCCCTCTGAT	0.527000													37	253					0	0	0.827153	0	0
NELL1	4745	broad.mit.edu	37	11	20939793	20939793	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:20939793A>G	ENST00000298925.5	+	7	906	c.753A>G	c.(751-753)ctA>ctG	p.L251L	NELL1_ENST00000357134.5_Silent_p.L223L|NELL1_ENST00000325319.5_Silent_p.L166L|NELL1_ENST00000532434.1_Silent_p.L223L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	223					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCAAATCTAAATCACAGTA	0.343000													65	101					0	0	0.870114	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495401	20495401	+	RNA	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:20495401G>A	ENST00000555186.1	+	0	604					NR_038836.1																						AAGATCTTCTGTGTGAGGAAA	0.403000													8	143					0	0	0.307466	0	0
CELA2B	51032	broad.mit.edu	37	1	15813844	15813844	+	Missense_Mutation	SNP	G	G	A	rs141194336	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:15813844G>A	ENST00000375910.3	+	7	729	c.704G>A	c.(703-705)gGc>gAc	p.G235D		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	235	Peptidase S1.		G -> S (in dbSNP:rs3737703).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CATGGCATCGGCAGCCTCACG	0.577000													4	109					0	0	0.217242	0	0
ADAM28	10863	broad.mit.edu	37	8	24193130	24193130	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:24193130C>A	ENST00000265769.4	+	14	1653	c.1543C>A	c.(1543-1545)Cag>Aag	p.Q515K	ADAM28_ENST00000437154.2_Missense_Mutation_p.Q515K|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.Q262K|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.Q282K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	515	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACTGCAGGAGCAGTGCACAGA	0.507000													9	31					0.307466	0.311753	0.307466	1	0
MAP2	4133	broad.mit.edu	37	2	210558740	210558740	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:210558740G>C	ENST00000360351.4	+	7	2352	c.1846G>C	c.(1846-1848)Ggt>Cgt	p.G616R	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G612R|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	616					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GCATAAAAATGGTGACAAGGA	0.443000													30	65					0	0	0.717897	0	0
BRD8	10902	broad.mit.edu	37	5	137496708	137496708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:137496708G>A	ENST00000254900.5	-	18	2670	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	BRD8_ENST00000515014.1_5'UTR|BRD8_ENST00000411594.2_Nonsense_Mutation_p.R770*|BRD8_ENST00000230901.5_Nonsense_Mutation_p.R840*|BRD8_ENST00000402931.1_Nonsense_Mutation_p.R767*|BRD8_ENST00000455658.2_Nonsense_Mutation_p.R726*	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	767	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGTGCTTCGGATCAGTCCA	0.408000													15	106					0	0	0.479597	0	0
RAI14	26064	broad.mit.edu	37	5	34823760	34823760	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34823760C>A	ENST00000265109.3	+	15	2100	c.1813C>A	c.(1813-1815)Caa>Aaa	p.Q605K	RAI14_ENST00000506376.1_Missense_Mutation_p.Q597K|RAI14_ENST00000515799.1_Missense_Mutation_p.Q608K|RAI14_ENST00000512629.1_Missense_Mutation_p.Q576K|RAI14_ENST00000428746.2_Missense_Mutation_p.Q605K|RAI14_ENST00000503673.1_Missense_Mutation_p.Q605K|RAI14_ENST00000397449.1_Missense_Mutation_p.Q598K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	605						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCAAGAAGCCCAAGAAGAAAT	0.363000													17	76					1.02788e-11	1.19724e-11	0.520397	1	0
NECAB1	64168	broad.mit.edu	37	8	91937823	91937823	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:91937823C>T	ENST00000417640.2	+	7	892	c.555C>T	c.(553-555)cgC>cgT	p.R185R		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	185					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GATCAAGCCGCCGAGTCCAGA	0.458000													13	25					0	0	0.457914	0	0
FAT3	120114	broad.mit.edu	37	11	92086560	92086560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:92086560C>A	ENST00000298047.6	+	1	1299	c.1282C>A	c.(1282-1284)Ctg>Atg	p.L428M	FAT3_ENST00000525166.1_Missense_Mutation_p.L278M|FAT3_ENST00000541502.1_Missense_Mutation_p.L428M|FAT3_ENST00000409404.2_Missense_Mutation_p.L428M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	428	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCGGTCGGGTCTGATTGTTAC	0.408000										TCGA Ovarian(4;0.039)			9	20					1.58986e-06	1.74405e-06	0.361761	1	0
IKBKE	9641	broad.mit.edu	37	1	206648211	206648211	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:206648211G>A	ENST00000367120.3	+	5	605	c.232G>A	c.(232-234)Gga>Aga	p.G78R	IKBKE_ENST00000537984.1_5'UTR|IKBKE_ENST00000462698.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	78	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCCATAGGGCGGAAGCCGGCA	0.617000													7	50					0	0	0.278610	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187810	94187810	+	Missense_Mutation	SNP	C	C	T	rs140016687		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:94187810C>T	ENST00000393140.1	-	5	544	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	PRIMA1_ENST00000393143.1_Missense_Mutation_p.V148M|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	148					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCGTTGTTCACGTCTACTCCT	0.572000													13	55					0	0	0.457914	0	0
COL20A1	57642	broad.mit.edu	37	20	61943100	61943100	+	Splice_Site	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:61943100C>A	ENST00000422202.1	+	12	1752	c.1684_splice	c.e12+1	p.P562_splice	COL20A1_ENST00000326996.6_Splice_Site_p.P555_splice|COL20A1_ENST00000358894.6_Splice_Site_p.P555_splice|COL20A1_ENST00000435874.1_Splice_Site_p.P562_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	555	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCCAGGACCCGTGAGTGCTC	0.692000													5	7					0.00116845	0.00121873	0.217242	1	0
TBX22	50945	broad.mit.edu	37	X	79282239	79282239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:79282239G>T	ENST00000442340.1	+	6	800	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	TBX22_ENST00000373291.1_Missense_Mutation_p.V104L|TBX22_ENST00000373296.3_Missense_Mutation_p.V224L|TBX22_ENST00000373294.5_Missense_Mutation_p.V224L	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	224					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAACCCCGAGTGCACGTGAT	0.453000													37	44					1.30998e-17	1.61058e-17	0.812448	1	0
TRHDE	29953	broad.mit.edu	37	12	73056946	73056946	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056946C>A	ENST00000261180.4	+	19	3142	c.3046C>A	c.(3046-3048)Caa>Aaa	p.Q1016K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1016					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGAGCTTTTCCAATGGTTAGG	0.398000													18	58					1.00905e-13	1.19166e-13	0.575678	1	0
C7orf55	154791	broad.mit.edu	37	7	139030441	139030441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:139030441G>A	ENST00000297534.6	+	2	586	c.333G>A	c.(331-333)tgG>tgA	p.W111*	C7orf55_ENST00000481123.1_3'UTR|LUC7L2_ENST00000541515.3_Intron|C7orf55-LUC7L2_ENST00000541170.3_Intron	NM_197964.4	NP_932068.2			chromosome 7 open reading frame 55											breast(1)|lung(2)	3						GGAAGGGCTGGGAGCCATGAA	0.438000													7	56					0	0	0.248553	0	0
FBN3	84467	broad.mit.edu	37	19	8138159	8138159	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:8138159C>A	ENST00000600128.1	-	62	8139	c.7725G>T	c.(7723-7725)tcG>tcT	p.S2575S	FBN3_ENST00000601739.1_Silent_p.S2575S|FBN3_ENST00000270509.2_Silent_p.S2575S			Q75N90	FBN3_HUMAN	fibrillin 3	2575	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGTGGGGGGCGACAGGGCAC	0.657000													5	52					0.00116845	0.00121873	0.217242	1	0
OR4L1	122742	broad.mit.edu	37	14	20528872	20528872	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:20528872C>A	ENST00000315683.1	+	1	669	c.669C>A	c.(667-669)gtC>gtA	p.V223V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCATCCTGGTCAGTGTACCAA	0.438000													58	180					2.41709e-19	3.02285e-19	0.870114	1	0
BCORL1	63035	broad.mit.edu	37	X	129171509	129171509	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:129171509G>A	ENST00000540052.1	+	8	4516		c.e8+1		BCORL1_ENST00000218147.7_Splice_Site|BCORL1_ENST00000359304.2_Splice_Site|BCORL1_ENST00000303743.5_Splice_Site	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACGGCACGAGGCAAGAGGGCT	0.652000													49	46					0	0	0.870114	0	0
GABRB3	2562	broad.mit.edu	37	15	26806266	26806266	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:26806266G>T	ENST00000541819.2	-	9	1163	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	GABRB3_ENST00000400188.3_Missense_Mutation_p.P227H|GABRB3_ENST00000299267.4_Missense_Mutation_p.P298H|GABRB3_ENST00000545868.1_Missense_Mutation_p.P213H|GABRB3_ENST00000311550.5_Missense_Mutation_p.P298H			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	298					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGGATTTTGGGCAAGGTCTC	0.468000													34	125					2.42023e-17	2.95419e-17	0.779181	1	0
ZRANB2	9406	broad.mit.edu	37	1	71542527	71542527	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:71542527C>A	ENST00000370920.3	-	4	553	c.252G>T	c.(250-252)gaG>gaT	p.E84D	ZRANB2_ENST00000254821.6_Missense_Mutation_p.E84D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	84					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						ACATATTACACTCTGATCTTC	0.269000													10	99					6.40141e-05	6.84521e-05	0.387290	1	0
ERBB2	2064	broad.mit.edu	37	17	37879629	37879629	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:37879629G>T	ENST00000406381.2	+	19	2424	c.1914G>T	c.(1912-1914)ggG>ggT	p.G638G	ERBB2_ENST00000269571.5_Silent_p.G668G|ERBB2_ENST00000540147.1_Silent_p.G638G|ERBB2_ENST00000541774.1_Silent_p.G653G|ERBB2_ENST00000445658.2_Silent_p.G392G|ERBB2_ENST00000584601.1_Silent_p.G638G|ERBB2_ENST00000584450.1_Silent_p.G668G	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	668					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGGTCTTGGGGGTGGTCTTTG	0.607000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			49	147					3.21987e-24	4.13867e-24	0.870114	1	0
LRP1B	53353	broad.mit.edu	37	2	141032117	141032117	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:141032117C>T	ENST00000389484.3	-	85	13989	c.13018G>A	c.(13018-13020)Gat>Aat	p.D4340N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4340	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACTTCCATCATCCCCAATG	0.403000										TSP Lung(27;0.18)			58	66					0	0	0.870114	0	0
CPNE4	131034	broad.mit.edu	37	3	131404769	131404769	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:131404769T>A	ENST00000512055.1	-	10	2667	c.541A>T	c.(541-543)Att>Ttt	p.I181F	CPNE4_ENST00000502818.1_Missense_Mutation_p.I199F|CPNE4_ENST00000512332.1_Missense_Mutation_p.I199F|CPNE4_ENST00000511604.1_Missense_Mutation_p.I181F|CPNE4_ENST00000429747.1_Missense_Mutation_p.I181F			Q96A23	CPNE4_HUMAN	copine IV	181	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ATACGAAAAATTTCCAGAAAT	0.383000													17	62					0	0	0.557998	0	0
ABCA12	26154	broad.mit.edu	37	2	215891574	215891574	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:215891574C>T	ENST00000272895.7	-	10	1369	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.V66M	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	384					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTCAGTCACATTTCTCACA	0.388000													104	217					0	0	0.870114	0	0
DOT1L	84444	broad.mit.edu	37	19	2226522	2226522	+	Silent	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:2226522T>C	ENST00000398665.3	+	27	4038	c.4002T>C	c.(4000-4002)ggT>ggC	p.G1334G		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1334						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGTGATGGTGCTTCTCTTC	0.701000													6	55					0	0	0.248553	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656953	50656953	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:50656953C>T	ENST00000248846.5	-	22	5022	c.4918G>A	c.(4918-4920)Gcg>Acg	p.A1640T	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1640					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCTTGAGCGCCCACATCATG	0.652000													14	75					0	0	0.457914	0	0
MFSD9	84804	broad.mit.edu	37	2	103335339	103335339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:103335339C>T	ENST00000258436.5	-	6	1008	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	322					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GATGAGGTAGCCTGTCACCTT	0.607000													14	73					0	0	0.457914	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610727	83610727	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:83610727C>G	ENST00000265362.3	-	14	1876	c.1562G>C	c.(1561-1563)gGg>gCg	p.G521A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G521A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	521					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACACGCTTTCCCGTAAATATC	0.483000													16	30					0	0	0.479597	0	0
OR11H12	440153	broad.mit.edu	37	14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413000													70	187					7.07328e-35	9.3031e-35	0.870114	1	0
LOC645166	645166	broad.mit.edu	37	1	148932792	148932792	+	RNA	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:148932792G>T	ENST00000539543.1	+	0	48					NR_027355.1																						GCAGACTGCTGGCCAGACCCC	0.582000													11	285					4.96729e-08	5.50839e-08	0.575678	1	0
LILRB3	11025	broad.mit.edu	37	19	54723084	54723084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54723084C>G	ENST00000391750.1	-	9	1476	c.1340G>C	c.(1339-1341)gGg>gCg	p.G447A	LILRB3_ENST00000407860.2_Missense_Mutation_p.G464A|LILRB3_ENST00000424807.1_Missense_Mutation_p.G447A|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.G459A|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.G447A|LILRA6_ENST00000270464.5_Missense_Mutation_p.G447A|LILRA6_ENST00000440558.2_Missense_Mutation_p.G447A|LILRB3_ENST00000245620.9_Missense_Mutation_p.G447A			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	447					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCGAGACCCCAATCAAAAC	0.562000													7	12					0	0	0.248553	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922282	44922282	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:44922282C>T	ENST00000371460.1	-	10	993	c.676G>A	c.(676-678)Gtt>Att	p.V226I	SUPT3H_ENST00000371458.1_5'UTR|SUPT3H_ENST00000371459.1_Missense_Mutation_p.V215I|SUPT3H_ENST00000371461.2_Missense_Mutation_p.V226I|SUPT3H_ENST00000306867.5_Missense_Mutation_p.V215I	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	297					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						ATTGCGACAACATTGGGTTTT	0.383000													22	265					0	0	0.667858	0	0
TRBV30	28557	broad.mit.edu	37	7	142510365	142510365	+	RNA	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:142510365G>C	ENST00000417977.2	-	0	352																											GAGGCTGAGAGATTCTGGGGC	0.567000													5	28					0	0	0.184627	0	0
RXRG	6258	broad.mit.edu	37	1	165380003	165380003	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:165380003C>A	ENST00000359842.5	-	6	1151	c.849G>T	c.(847-849)tgG>tgT	p.W283C	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	283	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TACGCTTGGCCCATTCAACGA	0.488000													7	47					5.18039e-06	5.64629e-06	0.278610	1	0
EPHB1	2047	broad.mit.edu	37	3	134851723	134851723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:134851723G>C	ENST00000398015.3	+	5	1499	c.1129G>C	c.(1129-1131)Gtg>Ctg	p.V377L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	377	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGACGACAATGTGGAGTTTGT	0.617000													5	53					0	0	0.278610	0	0
ZNF536	9745	broad.mit.edu	37	19	31039729	31039729	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:31039729T>C	ENST00000355537.3	+	4	3350	c.3203T>C	c.(3202-3204)aTg>aCg	p.M1068T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCTCCAATATGATCAGCTCT	0.562000													24	108					0	0	0.654019	0	0
TIGD2	166815	broad.mit.edu	37	4	90034966	90034966	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:90034966A>C	ENST00000317005.2	+	1	999	c.841A>C	c.(841-843)Aag>Cag	p.K281Q		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	281	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TTTGAAATCCAAGGGACTTTT	0.388000													21	89					0	0	0.608945	0	0
BPI	671	broad.mit.edu	37	20	36954720	36954720	+	Silent	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:36954720C>A	ENST00000262865.4	+	10	1148	c.1059C>A	c.(1057-1059)acC>acA	p.T353T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	353					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CAGCCTCCACCCCGCCACACC	0.577000													22	33					5.45024e-15	6.52746e-15	0.654019	1	0
LILRA4	23547	broad.mit.edu	37	19	54849458	54849458	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:54849458G>C	ENST00000291759.4	-	4	460	c.404C>G	c.(403-405)tCa>tGa	p.S135*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	135	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTCACTCCTGAGGTCACCAC	0.582000													10	95					0	0	0.387290	0	0
GFRA1	2674	broad.mit.edu	37	10	117884808	117884808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:117884808C>G	ENST00000439649.3	-	5	1046	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L	GFRA1_ENST00000544592.1_Missense_Mutation_p.V111L|GFRA1_ENST00000369236.1_Missense_Mutation_p.V227L|GFRA1_ENST00000355422.6_Missense_Mutation_p.V232L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	232					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TAGGAGCACACAGGCACGATG	0.562000													32	73					0	0	0.760397	0	0
TRHDE	29953	broad.mit.edu	37	12	73056937	73056937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:73056937G>T	ENST00000261180.4	+	19	3133	c.3037G>T	c.(3037-3039)Gag>Tag	p.E1013*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1013					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E1013Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTACCAAGACGAGCTTTTCCA	0.393000													21	65					4.4004e-07	4.85858e-07	0.654019	1	0
KIF3A	11127	broad.mit.edu	37	5	132069961	132069961	+	Missense_Mutation	SNP	T	T	A	rs146249719	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:132069961T>A	ENST00000378746.4	-	2	434	c.216A>T	c.(214-216)aaA>aaT	p.K72N	KIF3A_ENST00000403231.1_Missense_Mutation_p.K72N|KIF3A_ENST00000378735.1_Missense_Mutation_p.K72N	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	72	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCAAGTTGTTTACTCTCTG	0.338000													75	142					0	0	0.870114	0	0
CD1A	909	broad.mit.edu	37	1	158224885	158224885	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:158224885C>A	ENST00000289429.5	+	2	603	c.70C>A	c.(70-72)Cct>Act	p.P24T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	24					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GCTCAAGGAGCCTCTCTCCTT	0.483000													4	188					0.000602214	0.000634632	0.184627	1	0
PXMP2	5827	broad.mit.edu	37	12	133266848	133266848	+	Splice_Site	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:133266848G>A	ENST00000545677.1	+	2	102		c.e2-1		PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_Splice_Site|PXMP2_ENST00000317479.3_Splice_Site|PXMP2_ENST00000543589.1_Splice_Site			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa							integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTCTCCACAGTGGCATTTTG	0.517000													38	113					0	0	0.819951	0	0
SLC41A3	54946	broad.mit.edu	37	3	125735640	125735640	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:125735640C>T	ENST00000383598.2	-	6	1031	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC41A3_ENST00000360370.4_Missense_Mutation_p.S275N|SLC41A3_ENST00000346785.5_Missense_Mutation_p.S239N|SLC41A3_ENST00000315891.6_Missense_Mutation_p.S275N|SLC41A3_ENST00000508835.1_Missense_Mutation_p.S158N	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	275						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GATGGGTGGGCTCTGCTTGGC	0.587000													4	122					0	0	0.150653	0	0
ROR2	4920	broad.mit.edu	37	9	94487036	94487036	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:94487036G>T	ENST00000375708.3	-	9	1938	c.1740C>A	c.(1738-1740)gaC>gaA	p.D580E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D440E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	580	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACCGTGCGGTCATCATCGG	0.632000													6	51					2.7689e-08	3.08396e-08	0.248553	1	0
CDK11B	984	broad.mit.edu	37	1	1572346	1572346	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:1572346C>T	ENST00000407249.3	-	17	1721	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A	CDK11B_ENST00000341832.6_Silent_p.A527A|CDK11B_ENST00000317673.7_Silent_p.A572A|CDK11B_ENST00000340677.5_Silent_p.A561A			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	584	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CGTACTCCCGCGCCAGCCCGA	0.687000													15	21					0	0	0.520397	0	0
COL24A1	255631	broad.mit.edu	37	1	86426969	86426969	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:86426969A>G	ENST00000370571.2	-	24	2891	c.2525T>C	c.(2524-2526)gTa>gCa	p.V842A	COL24A1_ENST00000436319.1_Missense_Mutation_p.V842A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	842	Collagen-like 5.			GYAGEPGPEGLKGEVGDQGNIG -> ITVFATLYSFLTGRS RRSRKYW (in Ref. 5; BAD92923).	cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGATCTCCTACTTCTCCCTG	0.269000													26	84					0	0	0.717897	0	0
QSOX1	5768	broad.mit.edu	37	1	180165686	180165686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:180165686G>T	ENST00000367602.3	+	12	1832	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	QSOX1_ENST00000367600.5_Missense_Mutation_p.M586I			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	586					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAGATGATGAAGTCCCCCA	0.637000													45	132					2.20914e-33	2.89063e-33	0.859065	1	0
ALX4	60529	broad.mit.edu	37	11	44297071	44297071	+	Silent	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:44297071A>G	ENST00000329255.3	-	2	707	c.604T>C	c.(604-606)Ttg>Ctg	p.L202L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	202					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCTTCTCCAATGGGCTGGGG	0.617000													93	178					0	0	0.870114	0	0
TRIM26	7726	broad.mit.edu	37	6	30166209	30166209	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:30166209C>T	ENST00000454678.2	-	5	967	c.531G>A	c.(529-531)gcG>gcA	p.A177A	TRIM26_ENST00000437089.1_Silent_p.A177A|TRIM26_ENST00000453195.1_Silent_p.A177A	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	177							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CACTTACCAGCGCGGCCAGGA	0.577000													17	202					0	0	0.520397	0	0
SHISA3	152573	broad.mit.edu	37	4	42403085	42403085	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:42403085C>G	ENST00000319234.4	+	2	552	c.334C>G	c.(334-336)Ctg>Gtg	p.L112V		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GTTCATCATCCTGGGCTCTGT	0.502000													78	235					0	0	0.870114	0	0
OR10A2	341276	broad.mit.edu	37	11	6891366	6891366	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:6891366T>A	ENST00000307322.4	+	1	443	c.381T>A	c.(379-381)acT>acA	p.T127T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCAAAGGACTCGTGCCAAAC	0.537000													7	235					0	0	0.435327	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040127	43040127	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:43040127A>T	ENST00000314890.3	-	2	1441	c.22T>A	c.(22-24)Tgt>Agt	p.C8S		NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	8							receptor activity										CGCTTCACACAGCCAAGAAAA	0.547000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	117					0	0	0.779181	0	0
FLT4	2324	broad.mit.edu	37	5	180048550	180048550	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:180048550G>A	ENST00000261937.6	-	13	2090	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	FLT4_ENST00000502649.1_Missense_Mutation_p.S671L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.S671L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCTGCACCGACAGGTACTT	0.677000													11	60					0	0	0.411799	0	0
FAM213A	84293	broad.mit.edu	37	10	82187166	82187166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:82187166C>T	ENST00000372181.1	+	4	960	c.490C>T	c.(490-492)Cga>Tga	p.R164*	FAM213A_ENST00000372188.1_Nonsense_Mutation_p.R164*|FAM213A_ENST00000372187.5_Nonsense_Mutation_p.R164*|FAM213A_ENST00000372185.1_Nonsense_Mutation_p.R153*	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	164						extracellular region											CAACTTCTTCCGAGCCTGGAA	0.488000													22	167					0	0	0.654019	0	0
OR5A2	219981	broad.mit.edu	37	11	59190426	59190426	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:59190426T>C	ENST00000302040.4	-	1	23	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	1					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						CCTACAGCCATAGGCCTGCTT	0.378000													77	182					0	0	0.870114	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77094330	77094330	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:77094330T>C	ENST00000328299.3	+	5	905	c.757T>C	c.(757-759)Tac>Cac	p.Y253H		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	253					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AAAAGTCCCCTACCATTATTA	0.348000													17	77					0	0	0.575678	0	0
GRIP1	23426	broad.mit.edu	37	12	66788009	66788009	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:66788009G>C	ENST00000359742.4	-	17	2348	c.2108C>G	c.(2107-2109)aCt>aGt	p.T703S	GRIP1_ENST00000286445.7_Missense_Mutation_p.T703S|GRIP1_ENST00000398016.3_Missense_Mutation_p.T651S			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	703	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCCCCTTTAGTGAGGCTTGA	0.433000													67	192					0	0	0.870114	0	0
KDM4C	23081	broad.mit.edu	37	9	6805761	6805761	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:6805761G>A	ENST00000381309.3	+	3	872	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	KDM4C_ENST00000401787.3_Missense_Mutation_p.A103T|KDM4C_ENST00000381306.3_Missense_Mutation_p.A103T|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000543771.1_Missense_Mutation_p.A103T|KDM4C_ENST00000535193.1_Missense_Mutation_p.A125T|KDM4C_ENST00000489243.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	103					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGGCAGCTGGCCAACAGTGG	0.418000													33	66					0	0	0.760397	0	0
CRB1	23418	broad.mit.edu	37	1	197404293	197404293	+	Missense_Mutation	SNP	A	A	G	rs146270698	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:197404293A>G	ENST00000367397.1	+	5	2301	c.1443A>G	c.(1441-1443)atA>atG	p.I481M	CRB1_ENST00000535699.1_Missense_Mutation_p.I1076M|CRB1_ENST00000367399.2_Missense_Mutation_p.I988M|CRB1_ENST00000367400.3_Missense_Mutation_p.I1100M|CRB1_ENST00000544212.1_Missense_Mutation_p.I581M|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1100	EGF-like 11.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAGTACAATAGAAATCGGAG	0.368000													47	119					0	0	0.859065	0	0
LHX2	9355	broad.mit.edu	37	9	126776323	126776323	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:126776323G>T	ENST00000373615.4	+	2	943	c.204G>T	c.(202-204)gcG>gcT	p.A68A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	68	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACCTGCTGGCGGTGGACAAGC	0.637000													18	94					3.51602e-12	4.13315e-12	0.575678	1	0
ZNF334	55713	broad.mit.edu	37	20	45131697	45131697	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr20:45131697T>C	ENST00000457685.2	-	6	1490	c.167A>G	c.(166-168)gAt>gGt	p.D56G	ZNF334_ENST00000593880.1_Missense_Mutation_p.D117G|ZNF334_ENST00000347606.4_Missense_Mutation_p.D94G			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAATGTTTATCTTGGATTTC	0.338000													42	36					0	0	0.834066	0	0
CRYGS	1427	broad.mit.edu	37	3	186257301	186257301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:186257301C>T	ENST00000392499.2	-	3	446	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CRYGS_ENST00000307944.5_Missense_Mutation_p.R36H	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	36	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GGAGTTGCAGCGACTTAGGTA	0.463000													38	138					0	0	0.804634	0	0
LILRP2	79166	broad.mit.edu	37	19	55224719	55224719	+	RNA	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:55224719T>C	ENST00000413439.1	+	0	1891																											GTCCCCAAGATGCAGCAAGGA	0.522000													9	12					0	0	0.307466	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	99					0	0	0.248553	0	0
DCHS2	54798	broad.mit.edu	37	4	155156946	155156946	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:155156946G>A	ENST00000357232.3	-	25	7492	c.7493C>T	c.(7492-7494)aCc>aTc	p.T2498I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2498	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATTTCCAAGGTGTCTTCTTT	0.368000													40	151					0	0	0.853193	0	0
GBA3	57733	broad.mit.edu	37	4	22694648	22694648	+	RNA	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:22694648C>A	ENST00000508166.1	+	0	112				GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATGGCTTTCCCTGCAGGATT	0.527000													5	13					1.23904e-05	1.34185e-05	0.184627	1	0
XRN1	54464	broad.mit.edu	37	3	142141448	142141448	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:142141448C>T	ENST00000264951.4	-	8	1060	c.943G>A	c.(943-945)Gtt>Att	p.V315I	XRN1_ENST00000392981.2_Missense_Mutation_p.V315I|XRN1_ENST00000544157.1_Missense_Mutation_p.V105I|XRN1_ENST00000463916.1_Missense_Mutation_p.V315I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	315					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGGATGGTAACATATGTTCCA	0.358000													74	128					0	0	0.870114	0	0
TPCN1	53373	broad.mit.edu	37	12	113730845	113730845	+	Silent	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:113730845G>T	ENST00000550785.1	+	27	2605	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	TPCN1_ENST00000541517.1_Silent_p.L812L|TPCN1_ENST00000392569.4_Silent_p.L672L|TPCN1_ENST00000335509.6_Silent_p.L740L|TPCN1_ENST00000546787.1_3'UTR	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	740						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCACCAGGCTGCTGGAGACCC	0.612000													12	40					5.50884e-06	5.99145e-06	0.411799	1	0
PLOD2	5352	broad.mit.edu	37	3	145828169	145828169	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:145828169T>G	ENST00000282903.5	-	4	582	c.405A>C	c.(403-405)aaA>aaC	p.K135N	PLOD2_ENST00000360060.3_Missense_Mutation_p.K135N|PLOD2_ENST00000494950.1_Missense_Mutation_p.K80N	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	135					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CAAAGACCACTTTGTGGTTTG	0.388000													39	117					0	0	0.796494	0	0
SLC4A8	9498	broad.mit.edu	37	12	51834519	51834519	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:51834519C>T	ENST00000453097.2	+	2	293	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.Q53*|SLC4A8_ENST00000535225.2_5'UTR|SLC4A8_ENST00000514353.3_5'UTR|SLC4A8_ENST00000394856.1_5'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	26					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGTGGTGGATCAGGGTGGGAC	0.428000													22	83					0	0	0.639603	0	0
SLC5A4	6527	broad.mit.edu	37	22	32625260	32625260	+	Missense_Mutation	SNP	C	C	T	rs144357030	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:32625260C>T	ENST00000266086.4	-	11	1212	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	401					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGGTGCTGGCGCTGTTGAAG	0.577000													58	145					0	0	0.870114	0	0
KIAA1919	91749	broad.mit.edu	37	6	111588223	111588223	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:111588223C>G	ENST00000368847.4	+	4	1811	c.1458C>G	c.(1456-1458)taC>taG	p.Y486*		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	486					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATAATCAATACCCATCAAATG	0.403000													29	83					0	0	0.706142	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302916	58302916	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:58302916C>T	ENST00000249750.4	-	4	1191	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G46S|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G121S|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.G142S|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G113S	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	142					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGATGACGCCCTGCAAATCC	0.433000													36	95					0	0	0.804634	0	0
FAM198B	51313	broad.mit.edu	37	4	159076818	159076818	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159076818G>A	ENST00000296530.8	-	3	1691	c.1070C>T	c.(1069-1071)aCt>aTt	p.T357I	FAM198B_ENST00000393807.5_Missense_Mutation_p.T365I|FAM198B_ENST00000589306.1_5'UTR|FAM198B_ENST00000585682.1_Missense_Mutation_p.T357I	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	357						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						ATGTATTTCAGTACAACCCGA	0.428000													4	73					0	0	0.457914	0	0
PEX5L	51555	broad.mit.edu	37	3	179593166	179593166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:179593166C>G	ENST00000467460.1	-	6	935	c.605G>C	c.(604-606)aGa>aCa	p.R202T	PEX5L_ENST00000392649.3_Missense_Mutation_p.R94T|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Missense_Mutation_p.R200T|PEX5L_ENST00000485199.1_Missense_Mutation_p.R167T|PEX5L_ENST00000476138.1_Missense_Mutation_p.R159T|PEX5L_ENST00000472994.1_Missense_Mutation_p.R143T|PEX5L_ENST00000468741.1_Missense_Mutation_p.R10T|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R178T|PEX5L_ENST00000464614.1_Missense_Mutation_p.R94T	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	202					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGATCCAGTTCTAGATGAGGA	0.378000													43	202					0	0	0.864702	0	0
JAZF1	221895	broad.mit.edu	37	7	27872583	27872583	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:27872583T>C	ENST00000283928.5	-	5	733	c.568A>G	c.(568-570)Ata>Gta	p.I190V	JAZF1_ENST00000466516.1_5'UTR|TAX1BP1_ENST00000488564.1_Intron	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	190					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TGATACTTTATGCCATTCACA	0.438000			T	SUZ12	endometrial stromal tumours								18	32					0	0	0.539581	0	0
CDH20	28316	broad.mit.edu	37	18	59170350	59170350	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr18:59170350C>G	ENST00000262717.4	+	5	1224	c.826C>G	c.(826-828)Cag>Gag	p.Q276E	CDH20_ENST00000536675.2_Missense_Mutation_p.Q276E|CDH20_ENST00000538374.1_Missense_Mutation_p.Q276E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	276	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCGCTTTCCCCAGAGTGAGTA	0.557000											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	184					0	0	0.706142	0	0
PLEC	5339	broad.mit.edu	37	8	145008864	145008864	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:145008864A>T	ENST00000322810.4	-	10	1560	c.1391T>A	c.(1390-1392)aTg>aAg	p.M464K	PLEC_ENST00000398774.2_Missense_Mutation_p.M295K|PLEC_ENST00000354589.3_Missense_Mutation_p.M327K|PLEC_ENST00000354958.2_Missense_Mutation_p.M305K|PLEC_ENST00000436759.2_Missense_Mutation_p.M354K|PLEC_ENST00000527096.1_Missense_Mutation_p.M350K|PLEC_ENST00000356346.3_Missense_Mutation_p.M313K|PLEC_ENST00000357649.2_Missense_Mutation_p.M331K|PLEC_ENST00000345136.3_Missense_Mutation_p.M327K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	464	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGTAGCTCCATCTCCTTAAA	0.637000													64	135					0	0	0.870114	0	0
C12orf66	144577	broad.mit.edu	37	12	64588097	64588097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:64588097G>A	ENST00000311915.8	-	3	890	c.863C>T	c.(862-864)aCg>aTg	p.T288M	C12orf66_ENST00000398055.3_Missense_Mutation_p.T288M|C12orf66_ENST00000544871.1_Missense_Mutation_p.T235M			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	288										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TGCTGTCAACGTTTTCATTTC	0.393000													49	161					0	0	0.870114	0	0
TCP10L2	401285	broad.mit.edu	37	6	167590618	167590618	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:167590618C>T	ENST00000366832.2	+	4	625	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	165										endometrium(1)|kidney(2)|lung(3)	6						TTAGCTCCTCCAAAGGTGACC	0.522000													24	58					0	0	0.804634	0	0
TMEM144	55314	broad.mit.edu	37	4	159136355	159136355	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:159136355A>G	ENST00000514558.1	+	3	1918	c.122A>G	c.(121-123)cAg>cGg	p.Q41R	TMEM144_ENST00000296529.6_Missense_Mutation_p.Q41R			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	41						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATGTTTCTCCAGTGGGTTCTT	0.388000													32	222					0	0	0.779181	0	0
NBAS	51594	broad.mit.edu	37	2	15567910	15567910	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:15567910C>A	ENST00000281513.5	-	22	2373	c.2348G>T	c.(2347-2349)gGt>gTt	p.G783V	NBAS_ENST00000441750.1_Missense_Mutation_p.G783V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	783										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAGGGAGTCACCGTTAAAACT	0.398000													6	27					0.00116845	0.00121873	0.217242	1	0
ABCB5	340273	broad.mit.edu	37	7	20793095	20793095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:20793095A>G	ENST00000404938.2	+	27	4194	c.3542A>G	c.(3541-3543)gAg>gGg	p.E1181G	ABCB5_ENST00000258738.6_Missense_Mutation_p.E736G	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	736					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGTTGGATGAGGCCACTTCA	0.398000													23	100					0	0	0.654019	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516465	140516465	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:140516465C>T	ENST00000231134.5	+	1	1666	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		483	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.637000													49	119					0	0	0.870114	0	0
ANKS1B	56899	broad.mit.edu	37	12	99194842	99194842	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:99194842G>T	ENST00000547776.2	-	20	3127	c.3128C>A	c.(3127-3129)aCc>aAc	p.T1043N	ANKS1B_ENST00000547446.1_Missense_Mutation_p.T178N|ANKS1B_ENST00000341752.7_Missense_Mutation_p.T49N|ANKS1B_ENST00000549558.2_Missense_Mutation_p.T209N|ANKS1B_ENST00000549493.2_Missense_Mutation_p.T293N|ANKS1B_ENST00000329257.7_Missense_Mutation_p.T1043N|ANKS1B_ENST00000332712.7_Missense_Mutation_p.T233N|ANKS1B_ENST00000550693.2_Missense_Mutation_p.T233N|ANKS1B_ENST00000546960.1_Missense_Mutation_p.T269N|ANKS1B_ENST00000547010.1_Missense_Mutation_p.T559N|ANKS1B_ENST00000333732.7_Missense_Mutation_p.T73N|ANKS1B_ENST00000546568.1_Missense_Mutation_p.T209N|ANKS1B_ENST00000549025.2_Missense_Mutation_p.T141N	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1043						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)		CTGTACCGGGGTAGAGGCTGT	0.458000													7	13					1.76689e-08	1.97226e-08	0.335167	1	0
BAGE2	85319	broad.mit.edu	37	21	11058268	11058268	+	RNA	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:11058268C>T	ENST00000470054.1	-	0	379									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)		CATCTGGGTACATTTCTCTTC	0.423000													7	317					0	0	0.307466	0	0
GPR149	344758	broad.mit.edu	37	3	154055728	154055728	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:154055728T>A	ENST00000389740.2	-	4	2055	c.1956A>T	c.(1954-1956)ctA>ctT	p.L652L		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	652						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)			TGGAGTAACGTAGGGATGGAG	0.428000													77	251					0	0	0.870114	0	0
TH	7054	broad.mit.edu	37	11	2189385	2189385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:2189385G>T	ENST00000381178.1	-	5	623	c.605C>A	c.(604-606)tCa>tAa	p.S202*	TH_ENST00000352909.3_Nonsense_Mutation_p.S171*|TH_ENST00000381175.1_Nonsense_Mutation_p.S198*|TH_ENST00000333684.5_Nonsense_Mutation_p.S175*	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	202					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCCAGCTCTGACACTTTTCT	0.597000													25	57					2.79863e-10	3.20113e-10	0.681144	1	0
HIST1H4B	8366	broad.mit.edu	37	6	26027337	26027337	+	Silent	SNP	G	G	A	rs141516292		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:26027337G>A	ENST00000377364.3	-	1	143	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AAATCAAACCGGAAATTCGCT	0.567000													25	137					0	0	0.693898	0	0
PCDH15	65217	broad.mit.edu	37	10	56138617	56138617	+	Silent	SNP	C	C	A	rs151119732	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:56138617C>A	ENST00000373965.2	-	4	637	c.243G>T	c.(241-243)gtG>gtT	p.V81V	PCDH15_ENST00000395430.1_Silent_p.V81V|PCDH15_ENST00000414778.1_Silent_p.V86V|PCDH15_ENST00000395442.1_Silent_p.V81V|PCDH15_ENST00000361849.3_Silent_p.V81V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Silent_p.V81V|PCDH15_ENST00000395432.2_Silent_p.V81V|PCDH15_ENST00000437009.1_Silent_p.V81V|PCDH15_ENST00000395433.1_Silent_p.V59V|PCDH15_ENST00000395445.1_Silent_p.V81V|PCDH15_ENST00000395438.1_Silent_p.V81V|PCDH15_ENST00000320301.6_Silent_p.V81V|PCDH15_ENST00000373955.1_Silent_p.V81V|PCDH15_ENST00000373957.3_Silent_p.V59V|PCDH15_ENST00000395440.1_Silent_p.V81V	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	81	Cadherin 1.				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)				CCCAGTAATCCACATTATCCT	0.433000										HNSCC(58;0.16)			80	221					4.03997e-35	5.32732e-35	0.870114	1	0
PLIN4	729359	broad.mit.edu	37	19	4504669	4504669	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:4504669C>T	ENST00000301286.3	-	6	3875	c.3876G>A	c.(3874-3876)cgG>cgA	p.R1292R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1292						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGAGGCTGTGCCGCGCCCGCC	0.701000													3	6					0	0	0.184627	0	0
HBA2	3040	broad.mit.edu	37	16	223546	223546	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:223546C>A	ENST00000251595.6	+	3	442	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	HBA2_ENST00000397806.1_Missense_Mutation_p.L94M	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	126			L -> P (in Quong Sze; causes alpha- thalassemia).|L -> R (in Plasencia; family with moderate microcytosis and hypochromia).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GCACGCCTCCCTGGACAAGTT	0.652000											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	25					3.8784e-16	4.68909e-16	0.608945	1	0
CNTN4	152330	broad.mit.edu	37	3	2778011	2778011	+	Silent	SNP	A	A	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:2778011A>T	ENST00000397461.1	+	4	552	c.168A>T	c.(166-168)ccA>ccT	p.P56P	CNTN4_ENST00000418658.1_Silent_p.P56P|CNTN4_ENST00000427331.1_Silent_p.P56P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	56	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAGGAAATCCAAAACCTCATA	0.338000													32	105					0	0	0.740014	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994507	140994507	+	Silent	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chrX:140994507C>T	ENST00000285879.4	+	4	1603	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	439							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTTTCCCCAGTCTCCTC	0.453000										HNSCC(15;0.026)			108	106					0	0	0.870114	0	0
MGAT3	4248	broad.mit.edu	37	22	39883967	39883967	+	Silent	SNP	G	G	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:39883967G>A	ENST00000341184.6	+	2	830	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	205					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGGAGGTGCCGCGCCGCGTCA	0.677000													6	16					0	0	0.217242	0	0
CADM1	23705	broad.mit.edu	37	11	115047259	115047259	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:115047259T>C	ENST00000542447.2	-	9	1308	c.1180A>G	c.(1180-1182)Aca>Gca	p.T394A	CADM1_ENST00000536727.1_Missense_Mutation_p.T423A|CADM1_ENST00000537058.1_Missense_Mutation_p.T433A|CADM1_ENST00000452722.2_Missense_Mutation_p.T422A|CADM1_ENST00000331581.6_Missense_Mutation_p.T451A|CADM1_ENST00000537140.1_Intron	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	422					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ATTATAGCTGTGTCTGCGTCT	0.463000													61	145					0	0	0.870114	0	0
MGAM	8972	broad.mit.edu	37	7	141754696	141754696	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr7:141754696C>A	ENST00000475668.2	+	27	3356	c.3302C>A	c.(3301-3303)aCa>aAa	p.T1101K	MGAM_ENST00000549489.2_Missense_Mutation_p.T1101K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1101	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CGGAAGAGTACAGGCACTATA	0.488000													29	96					2.42023e-17	2.95419e-17	0.779181	1	0
SLC6A9	6536	broad.mit.edu	37	1	44467985	44467985	+	Splice_Site	SNP	C	C	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:44467985C>T	ENST00000372310.3	-	8	1127	c.962_splice	c.e8+1	p.R321_splice	SLC6A9_ENST00000537678.1_Splice_Site_p.R256_splice|SLC6A9_ENST00000360584.2_Splice_Site_p.R394_splice|SLC6A9_ENST00000357730.2_Splice_Site_p.R340_splice|SLC6A9_ENST00000475075.2_Splice_Site_p.R210_splice|SLC6A9_ENST00000372307.3_Splice_Site_p.R256_splice|SLC6A9_ENST00000372306.3_Splice_Site_p.R321_splice	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	394						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAGCACTCACCGGTAACAGTT	0.607000													12	74					0	0	0.387290	0	0
OR52I2	143502	broad.mit.edu	37	11	4608360	4608360	+	Silent	SNP	G	G	C	rs149411057	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:4608360G>C	ENST00000312614.4	+	1	340	c.318G>C	c.(316-318)tcG>tcC	p.S106S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTCCTCGGTGGTACCCA	0.493000													68	204					0	0	0.870114	0	0
SPG11	80208	broad.mit.edu	37	15	44941067	44941067	+	Silent	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:44941067T>A	ENST00000261866.7	-	7	1615	c.1599A>T	c.(1597-1599)ctA>ctT	p.L533L	SPG11_ENST00000559193.1_Silent_p.L533L|SPG11_ENST00000558319.1_Silent_p.L533L|SPG11_ENST00000427534.2_Silent_p.L533L|SPG11_ENST00000535302.2_Silent_p.L533L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	533					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTGTTACCTCTAGTGCATGTA	0.363000													47	108					0	0	0.870114	0	0
LINGO2	158038	broad.mit.edu	37	9	27949987	27949987	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:27949987T>A	ENST00000379992.2	-	6	1132	c.683A>T	c.(682-684)aAa>aTa	p.K228I	LINGO2_ENST00000308675.3_Missense_Mutation_p.K228I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	228						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTCTAGGTGTTTCAGGTGGAA	0.473000													27	119					0	0	0.667858	0	0
CELSR2	1952	broad.mit.edu	37	1	109806838	109806839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:109806838_109806839insA	ENST00000271332.3	+	10	5201_5202	c.5140_5141insA	c.(5140-5142)tgcfs	p.C1714fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1714	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGCCCGGCCATGCCATTCTG	0.644											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	132	---	---	---	---					
SELE	6401	broad.mit.edu	37	1	169698381	169698381	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:169698381delG	ENST00000333360.7	-	7	1175	c.1036delC	c.(1036-1038)agfs	p.Q346fs	SELE_ENST00000367777.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367781.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367776.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367780.4_Frame_Shift_Del_p.Q284fs|SELE_ENST00000367779.4_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367782.4_Frame_Shift_Del_p.Q346fs|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Frame_Shift_Del_p.Q346fs|SELE_ENST00000367775.1_Frame_Shift_Del_p.Q284fs	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	346	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATTCAACCTGGGCTGGTCCC	0.488													31	140	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													10	174	---	---	---	---					
IVNS1ABP	10625	broad.mit.edu	37	1	185268838	185268850	+	Splice_Site	DEL	TCACCATTAAGAA	TCACCATTAAGAA	-	rs146125180	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:185268838_185268850delTCACCATTAAGAA	ENST00000367498.3	-	14	2289_2298	c.1675_splice	c.e14+1	p.556_splice	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Splice_Site_p.338_splice	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	556					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATCCCAACACTCACCATTAAGAACAGCCACTCC	0.413													10	228	---	---	---	---					
OR14A16	284532	broad.mit.edu	37	1	247978121	247978121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr1:247978121delC	ENST00000357627.1	-	1	910	c.911delG	c.(910-912)gafs	p.G304fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G304E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGTGAGCTTTCCCTTTATCAA	0.343													34	104	---	---	---	---					
ALK	238	broad.mit.edu	37	2	30143057	30143058	+	Frame_Shift_Ins	INS	-	-	C	rs74774946		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:30143057_30143058insC	ENST00000389048.3	-	1	1374_1375	c.468_469insG	c.(466-471)ggccccfs	p.GP156fs	ALK_ENST00000431873.1_Frame_Shift_Ins_p.GP156fs	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	156					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCCCCGGGGGGCCCGACGCAAC	0.663			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	63	---	---	---	---					
SH3RF3	344558	broad.mit.edu	37	2	110036087	110036088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:110036087_110036088insT	ENST00000309415.6	+	5	1392_1393	c.1392_1393insT	c.(1390-1395)ctccctfs	p.LP464fs		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	464	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGGTCCAGCTGCCCCTCAACGT	0.663													8	14	---	---	---	---					
EPHA4	2043	broad.mit.edu	37	2	222307601	222307602	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr2:222307601_222307602insA	ENST00000281821.2	-	11	2062_2063	c.2021_2022insT	c.(2020-2022)aggfs	p.R674fs	EPHA4_ENST00000409938.1_Frame_Shift_Ins_p.R674fs|EPHA4_ENST00000409854.1_Frame_Shift_Ins_p.R674fs|EPHA4_ENST00000392071.4_Frame_Shift_Ins_p.R623fs	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	674	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAAACTGTCCCATGATGCTGGC	0.480													25	183	---	---	---	---					
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.380													10	64	---	---	---	---					
KIAA1257	57501	broad.mit.edu	37	3	128711936	128711937	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:128711936_128711937insG	ENST00000265068.5	-	2	378_379	c.211_212insC	c.(211-213)cgtfs	p.R71fs	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Frame_Shift_Ins_p.R71fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	71										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGGACCACGTGGGGCACGTCG	0.574													105	327	---	---	---	---					
ATP13A5	344905	broad.mit.edu	37	3	193007781	193007782	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr3:193007781_193007782insG	ENST00000342358.4	-	26	3032_3033	c.2915_2916insC	c.(2914-2916)cttfs	p.L972fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	972					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAAGCAGTAAAGGGGGAGAAAG	0.421													29	124	---	---	---	---					
DGKQ	1609	broad.mit.edu	37	4	954932	954932	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:954932delG	ENST00000273814.3	-	22	2705	c.2632delC	c.(2632-2634)gafs	p.R878fs		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	878					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCGTGACTCGGAAGTAGGAA	0.692													18	57	---	---	---	---					
DOK7	285489	broad.mit.edu	37	4	3494670	3494671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:3494670_3494671insA	ENST00000340083.5	+	7	1022_1023	c.957_958insA	c.(955-960)ccagccfs	p.A320fs	DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Frame_Shift_Ins_p.A320fs	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	320	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACCCCCCAAGCCGCTGCG	0.688													3	5	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				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						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			85	500	---	---	---	---					
SLC9A3	6550	broad.mit.edu	37	5	524328	524328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:524328delC	ENST00000264938.3	-	1	119	c.110delG	c.(109-111)gcfs	p.G37fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.G37fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	37						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCGCTCTCGCCGTGCGCGCC	0.761													4	8	---	---	---	---					
CTD-2066L21.3	0	broad.mit.edu	37	5	33090432	33090433	+	RNA	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:33090432_33090433insG	ENST00000510327.1	-	0	346																											ATGAATTTCTTGAACACGTGGC	0.450													5	3	---	---	---	---					
CTD-2066L21.3	0	broad.mit.edu	37	5	33111479	33111480	+	RNA	DEL	GT	GT	-	rs10544573		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:33111479_33111480delGT	ENST00000510327.1	-	0	346																											attaaataaggtgtgtgtgtgt	0.465													2	4	---	---	---	---					
DNAJC21	134218	broad.mit.edu	37	5	34954712	34954712	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr5:34954712delC	ENST00000382021.2	+	13	1851	c.1624delC	c.(1624-1626)ttfs	p.L542fs	DNAJC21_ENST00000342382.4_Frame_Shift_Del_p.L497fs|DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.L510fs	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	497					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCGGAATAAACTTTTTGACCA	0.383													10	235	---	---	---	---					
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													9	279	---	---	---	---					
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													4	4	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8175731	8175732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:8175731_8175732insC	ENST00000520004.1	-	6	4417_4418	c.4153_4154insG	c.(4153-4155)gtcfs	p.V1385fs	SGK223_ENST00000330777.4_Frame_Shift_Ins_p.V1385fs			Q86YV5	SG223_HUMAN		1385							ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCCGCAGACGCCAGGTACTGG	0.649													39	88	---	---	---	---					
ARC	23237	broad.mit.edu	37	8	143694532	143694533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr8:143694532_143694533insC	ENST00000356613.2	-	1	2300_2301	c.1100_1101insG	c.(1099-1101)gccfs	p.A367fs		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	367					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGAGGTGGGGGCCGGCCGGCTC	0.708													8	44	---	---	---	---					
RP11-383M4.6	0	broad.mit.edu	37	9	84564610	84564610	+	RNA	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:84564610delG	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GCAACTACATGGCTCCCTCCT	0.507													13	24	---	---	---	---					
SVEP1	79987	broad.mit.edu	37	9	113168483	113168483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr9:113168483delC	ENST00000401783.2	-	38	9733	c.9397delG	c.(9397-9399)cafs	p.A3133fs	SVEP1_ENST00000297826.5_Frame_Shift_Del_p.A1059fs|SVEP1_ENST00000374469.1_Frame_Shift_Del_p.A3110fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3133	Sushi 29.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCAGTTGCCACTGCATTG	0.512													55	139	---	---	---	---					
ITIH5	80760	broad.mit.edu	37	10	7708782	7708782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:7708782delC	ENST00000256861.6	-	1	152	c.74delG	c.(73-75)gcfs	p.G25fs	ITIH5_ENST00000397146.2_Frame_Shift_Del_p.G25fs|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.G25fs|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	25					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGAAGAGTGGCCCCAGCTCTG	0.766													18	57	---	---	---	---					
HTR7	3363	broad.mit.edu	37	10	92617175	92617175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr10:92617175delC	ENST00000371721.3	-	1	496	c.254delG	c.(253-255)gcfs	p.G85fs	HTR7_ENST00000277874.6_Frame_Shift_Del_p.G85fs|HTR7_ENST00000336152.3_Frame_Shift_Del_p.G85fs|HTR7_ENST00000371719.2_Frame_Shift_Del_p.G85fs			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	85					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CAGGATGGAGCCGATCACAAC	0.632													34	69	---	---	---	---					
OR4C6	219432	broad.mit.edu	37	11	55433099	55433100	+	Frame_Shift_Ins	INS	-	-	A	rs149652704		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:55433099_55433100insA	ENST00000314259.3	+	1	486_487	c.457_458insA	c.(457-459)cgcfs	p.R153fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGGATTTATGCACGCAATGATA	0.470													17	171	---	---	---	---					
SLCO2B1	11309	broad.mit.edu	37	11	74873807	74873807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr11:74873807delC	ENST00000289575.5	+	2	519	c.124delC	c.(124-126)cafs	p.P42fs	SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Frame_Shift_Del_p.P20fs|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	42					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGACGTGCGGCCAAGTGTGTT	0.582													60	153	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49444267	49444268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr12:49444267_49444268insG	ENST00000301067.7	-	11	3102_3103	c.3103_3104insC	c.(3103-3105)aaafs	p.K1035fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGGGAGTTTTGGGGAACCAGG	0.619													30	59	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106208061	106208061	+	RNA	DEL	G	G	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr14:106208061delG	ENST00000390548.2	-	0	741																											AGGCAGGTCAGGCTGACCTGG	0.617													97	167	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25477651	25477651	+	RNA	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr15:25477651delC	ENST00000453082.2	+	0	1700					NR_003343.1																						GACACTGGGTCCCGAAGCCCC	0.517													73	230	---	---	---	---					
NLRC3	197358	broad.mit.edu	37	16	3594163	3594163	+	RNA	DEL	A	A	-	rs60164526		TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr16:3594163delA	ENST00000301749.7	-	0	3261				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						tgtctcgaggaaaaaaaaaaa	0.488													4	7	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr17:56056587_56056589delTGT	ENST00000584396.1	-	5	1123_1125	c.1035_1037delACA	c.(1033-1038)cat>ca	p.QH345del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473													10	390	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328	byFrequency	TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)ggc>g	p.EG705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													7	306	---	---	---	---					
MSANTD2P1	100130310	broad.mit.edu	37	21	24474163	24474163	+	RNA	DEL	C	C	-			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr21:24474163delC	ENST00000421604.1	+	0	297																											TCAGGAATCACAAAGAGAAAA	0.522													15	46	---	---	---	---					
ZNRF3	84133	broad.mit.edu	37	22	29446545	29446546	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5356-01A-01D-1434-08	TCGA-CN-5356-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aad13fa4-b2e7-4c89-9936-57cf7a5e16a4	5f41279c-51ec-45fc-9046-a5111226eab5	g.chr22:29446545_29446546insG	ENST00000544604.2	+	8	2551_2552	c.2376_2377insG	c.(2374-2379)ggggggfs	p.GG792fs	ZNRF3_ENST00000332811.4_Frame_Shift_Ins_p.GG692fs|ZNRF3_ENST00000406323.3_Frame_Shift_Ins_p.GG692fs|ZNRF3_ENST00000402174.1_Frame_Shift_Ins_p.GG692fs	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	792						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCGGGGGCGGAGGGGGCAGCGG	0.658													7	27	---	---	---	---