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
POTEF	728378	broad.mit.edu	37	2	130877748	130877748	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:130877748T>A	ENST00000357462.5	-	1	434	c.341A>T	c.(340-342)aAg>aTg	p.K114M	POTEF_ENST00000409914.2_Missense_Mutation_p.K114M|POTEF_ENST00000360967.5_Missense_Mutation_p.K114M|POTEF_ENST00000361163.4_Missense_Mutation_p.K114M			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	114						cell cortex	ATP binding	p.K114M(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACCTTGCTCTTGCTGCTCCC	0.597000													12	88					0	0	0.479597	0	0
NAGK	55577	broad.mit.edu	37	2	71303832	71303832	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:71303832G>T	ENST00000418807.3	+	7	776		c.e7+1		NAGK_ENST00000244204.5_Splice_Site|NAGK_ENST00000455662.2_Splice_Site			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase						N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GATTGACCCGGTGAGTTGAGG	0.567000													3	16					6.4e-05	8.01135e-05	0.115264	1	0
SLC9C2	284525	broad.mit.edu	37	1	173493226	173493226	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:173493226A>G	ENST00000367714.3	-	21	2944	c.2522T>C	c.(2521-2523)cTt>cCt	p.L841P	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	841					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.L841P(1)									TAATTTTTTAAGAAGTACCTA	0.338000													11	55					0	0	0.435327	0	0
NEB	4703	broad.mit.edu	37	2	152551035	152551035	+	Splice_Site	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:152551035C>G	ENST00000397345.3	-	19	1985		c.e19+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCACACTCACATCGCTGGTG	0.507000													3	33					0	0	0.115264	0	0
DGCR2	9993	broad.mit.edu	37	22	19029328	19029328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr22:19029328C>A	ENST00000263196.7	-	8	1398	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	DGCR2_ENST00000537045.1_Missense_Mutation_p.G343V|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	384					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.G384V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACAGTTTGCTCCAATCAGGGA	0.637000													5	51					0.0215528	0.0229823	0.217242	1	0
ZNF805	390980	broad.mit.edu	37	19	57765064	57765064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:57765064G>T	ENST00000535550.1	+	4	974	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ZNF805_ENST00000354309.4_Nonsense_Mutation_p.G160*|ZNF805_ENST00000414468.2_Nonsense_Mutation_p.G293*	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G293*(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CAGTGAATGTGGAAAGGCCTT	0.493000													5	27					8.12818e-05	9.93445e-05	0.248553	1	0
RAB38	23682	broad.mit.edu	37	11	87847169	87847169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:87847169C>A	ENST00000243662.6	-	3	705	c.623G>T	c.(622-624)tGt>tTt	p.C208F	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	208		Not methylated.			protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	p.C208F(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGATTTGGCACAGCCAGAGCA	0.473000													19	93					6.49762e-13	1.22896e-12	0.539581	1	0
MUC2	4583	broad.mit.edu	37	11	1084795	1084795	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:1084795G>A	ENST00000441003.2	+	20	2617	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R	MUC2_ENST00000359061.5_Missense_Mutation_p.G864R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	864	VWFD 3.					inner mucus layer|outer mucus layer	protein binding	p.G864R(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCATTTACGGGAGTGGCCA	0.597000													3	7					0	0	0.115264	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	40					0	0	0.115264	0	0
HSPG2	3339	broad.mit.edu	37	1	22222444	22222444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:22222444C>A	ENST00000374695.3	-	3	294	c.215G>T	c.(214-216)gGg>gTg	p.G72V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	72					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.G72V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCCAGGTCCCCACTGCCCAG	0.567000													6	34					0.00198382	0.00225336	0.248553	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962328	69962328	+	Silent	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:69962328A>T	ENST00000305231.7	+	1	136	c.90A>T	c.(88-90)gcA>gcT	p.A30A	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.A30A	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	30					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A30A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTGTGGGCAGCAGAATACA	0.428000													16	99					0	0	0.539581	0	0
EPHA5	2044	broad.mit.edu	37	4	66201737	66201737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:66201737C>A	ENST00000273854.3	-	16	3365	c.2765G>T	c.(2764-2766)aGg>aTg	p.R922M	EPHA5_ENST00000511294.1_Missense_Mutation_p.R923M|EPHA5_ENST00000432638.2_Missense_Mutation_p.R759M|EPHA5_ENST00000354839.4_Missense_Mutation_p.R900M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	922	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R922M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAACTTGGGCCTGCTATTTCG	0.483000										TSP Lung(17;0.13)			9	46					7.48243e-07	1.06746e-06	0.335167	1	0
C9orf171	389799	broad.mit.edu	37	9	135447819	135447819	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:135447819G>A	ENST00000343036.2	+	7	933	c.885G>A	c.(883-885)caG>caA	p.Q295Q	C9orf171_ENST00000393216.2_Silent_p.Q259Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	295								p.Q295Q(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCGATCGCCAGAGAGCATTAA	0.627000													11	34					0	0	0.457914	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964255	148964255	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:148964255G>T	ENST00000434415.1	+	4	778	c.615G>T	c.(613-615)cgG>cgT	p.R205R		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	205					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R205L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTCTTGACCGGTGGGGCCAGG	0.562000													4	35					0.00909568	0.00995286	0.150653	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530683	5530683	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5530683A>T	ENST00000311659.4	-	2	253	c.106T>A	c.(106-108)Tca>Aca	p.S36T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	36	Ubiquitin-like.							p.S36T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTAACTGAGAAATCCTCC	0.522000													17	80					0	0	0.592651	0	0
COL6A3	1293	broad.mit.edu	37	2	238274635	238274635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:238274635G>T	ENST00000295550.4	-	12	5996	c.5544C>A	c.(5542-5544)gaC>gaA	p.D1848E	COL6A3_ENST00000472056.1_Missense_Mutation_p.D1241E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1642E|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1647E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1642E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1648E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1848	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D1848E(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAACATTCTGGTCTCTAGAAC	0.527000													17	101					1.56452e-12	2.89368e-12	0.557998	1	0
CNTN1	1272	broad.mit.edu	37	12	41327516	41327516	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:41327516G>C	ENST00000551295.2	+	9	938	c.821G>C	c.(820-822)cGa>cCa	p.R274P	CNTN1_ENST00000547702.1_Missense_Mutation_p.R274P|CNTN1_ENST00000347616.1_Missense_Mutation_p.R274P|CNTN1_ENST00000348761.2_Missense_Mutation_p.R263P|CNTN1_ENST00000547849.1_Missense_Mutation_p.R274P|CNTN1_ENST00000360099.3_Missense_Mutation_p.R274P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	274	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.R274P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCGGATATCCGATGGCGGAAG	0.373000													26	109					0	0	0.706142	0	0
DAPK3	1613	broad.mit.edu	37	19	3964952	3964952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:3964952C>A	ENST00000545797.2	-	3	343	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C	DAPK3_ENST00000301264.3_Missense_Mutation_p.G34C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	34	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	p.G34C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCGTGCCCTTCTGCCGG	0.662000													5	45					8.12818e-05	9.93445e-05	0.248553	1	0
MTOR	2475	broad.mit.edu	37	1	11308080	11308080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:11308080C>A	ENST00000361445.4	-	7	988	c.912G>T	c.(910-912)atG>atT	p.M304I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	304					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.M304I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTCCGAAGCCCATGAGATCTT	0.488000													16	122					1.5739e-10	2.66352e-10	0.500413	1	0
GPRIN1	114787	broad.mit.edu	37	5	176026691	176026691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:176026691G>T	ENST00000303991.4	-	2	322	c.145C>A	c.(145-147)Cag>Aag	p.Q49K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	49						growth cone|plasma membrane		p.Q49E(1)|p.Q49K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTTTTGCTGGGAGGGGCAG	0.662000													12	74					7.93312e-07	1.11651e-06	0.457914	1	0
NRAP	4892	broad.mit.edu	37	10	115383307	115383307	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:115383307T>C	ENST00000369358.4	-	23	2706	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	NRAP_ENST00000360478.3_Missense_Mutation_p.K778R|NRAP_ENST00000369360.3_Missense_Mutation_p.K786R|NRAP_ENST00000359988.3_Missense_Mutation_p.K813R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	813						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.K813R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGtccctcttggctttggc	0.512000													12	73					0	0	0.411799	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440260	104440260	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:104440260C>A	ENST00000372582.1	+	3	942	c.186C>A	c.(184-186)acC>acA	p.T62T	IL1RAPL2_ENST00000344799.4_Silent_p.T62T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	62	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.T62T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATATTCGTACCAACTATAGCA	0.473000													15	53					1.15088e-07	1.70591e-07	0.500413	1	0
QRICH2	84074	broad.mit.edu	37	17	74288678	74288678	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:74288678C>T	ENST00000262765.5	-	4	1811	c.1632G>A	c.(1630-1632)ttG>ttA	p.L544L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	544	Gln-rich.						protein binding	p.L544L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGATTGTACCAAACCATGCT	0.527000													9	50					0	0	0.307466	0	0
ALOX5	240	broad.mit.edu	37	10	45877968	45877968	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:45877968G>C	ENST00000374391.2	+	2	241	c.188G>C	c.(187-189)gGc>gCc	p.G63A	ALOX5_ENST00000542434.1_Missense_Mutation_p.G63A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	63	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G63A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAGGAACTGGGCGAGATCCAG	0.552000													7	27					0	0	0.278610	0	0
PTAFR	5724	broad.mit.edu	37	1	28477276	28477276	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:28477276G>T	ENST00000373857.3	-	2	891	c.257C>A	c.(256-258)cCc>cAc	p.P86H	PTAFR_ENST00000305392.3_Missense_Mutation_p.P86H|PTAFR_ENST00000539896.1_Missense_Mutation_p.P86H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	86					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.P86H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAATTTGGGGAGTATCCA	0.507000													4	43					1.024e-07	1.55084e-07	0.184627	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:52149086G>A	ENST00000360844.6	-	3	690	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	217	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R217C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642000													10	46					0	0	0.361761	0	0
CDH6	1004	broad.mit.edu	37	5	31294067	31294067	+	Splice_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:31294067A>T	ENST00000265071.2	+	3	493		c.e3-1		CDH6_ENST00000514738.1_Splice_Site	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.?(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCTACACTAGTTACATTCA	0.328000													6	71					0	0	0.248553	0	0
PSPH	5723	broad.mit.edu	37	7	56087349	56087349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:56087349C>A	ENST00000395471.3	-	5	1024	c.219G>T	c.(217-219)agG>agT	p.R73S	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.R73S			P78330	SERB_HUMAN	phosphoserine phosphatase	73					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.R73S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCACCTGCTCCCTGGAGGGCT	0.607000													5	32					1.23904e-05	1.6185e-05	0.184627	1	0
RGAG1	57529	broad.mit.edu	37	X	109697657	109697657	+	Missense_Mutation	SNP	G	G	T	rs34064910	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:109697657G>T	ENST00000465301.2	+	3	4058	c.3812G>T	c.(3811-3813)cGg>cTg	p.R1271L	RGAG1_ENST00000540313.1_Missense_Mutation_p.R1271L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1271								p.R1271L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCATTCTACGGACCAGGTTT	0.522000													31	137					8.88839e-20	1.84843e-19	0.750413	1	0
LILRA4	23547	broad.mit.edu	37	19	54849250	54849250	+	Nonsense_Mutation	SNP	G	G	T	rs149766788	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:54849250G>T	ENST00000291759.4	-	4	668	c.612C>A	c.(610-612)taC>taA	p.Y204*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	204	Ig-like C2-type 2.					integral to membrane	receptor activity	p.Y204*(1)		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)		CCGACCACACGTATGGGGTGT	0.552000													8	44					0.00621372	0.00687125	0.335167	1	0
ZNF208	7757	broad.mit.edu	37	19	22156079	22156079	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:22156079C>A	ENST00000397126.4	-	4	1905	c.1757G>T	c.(1756-1758)tGt>tTt	p.C586F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.C486F(2)|p.C586F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCTTTGCCACATTCTTCACA	0.348000													6	20					5.9392e-07	8.56064e-07	0.217242	1	0
IGKV3-7	28915	broad.mit.edu	37	2	89278502	89278502	+	RNA	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:89278502A>G	ENST00000390247.2	-	0	98																											TGGGGCTTCCATGGTTCCGTC	0.567000													7	67					0	0	0.361761	0	0
LILRB4	11006	broad.mit.edu	37	19	55175419	55175419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:55175419C>A	ENST00000391736.1	+	5	593	c.278C>A	c.(277-279)gCa>gAa	p.A93E	LILRB4_ENST00000391733.3_Missense_Mutation_p.A93E|LILRB4_ENST00000270452.2_Missense_Mutation_p.A93E|LILRB4_ENST00000430952.2_Missense_Mutation_p.A93E|LILRB4_ENST00000391734.3_Missense_Mutation_p.A93E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	93	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.A93E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGGACTATGCAGGGAGATAC	0.577000													24	173					5.62743e-28	1.21879e-27	0.717897	1	0
OR2A14	135941	broad.mit.edu	37	7	143827061	143827061	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:143827061C>A	ENST00000408899.2	+	1	911	c.856C>A	c.(856-858)Ccc>Acc	p.P286T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AATGCTGAACCCCCTGATATA	0.542000													41	171					1.15183e-24	2.44399e-24	0.847076	1	0
CCDC180	100499483	broad.mit.edu	37	9	100126312	100126312	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:100126312C>G	ENST00000357054.1	+	41	4784	c.3849C>G	c.(3847-3849)acC>acG	p.T1283T	CCDC180_ENST00000375202.2_Intron|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Intron					coiled-coil domain containing 180									p.T1283T(1)									TCCAGACCACCCACCCACCTT	0.627000													7	30					0	0	0.278610	0	0
DUSP22	56940	broad.mit.edu	37	6	348145	348145	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:348145C>T	ENST00000419235.2	+	6	384	c.306C>T	c.(304-306)taC>taT	p.Y102Y	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.Y102Y|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	102	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y102Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGATCGCATACATCATGACCG	0.612000													12	134					0	0	0.435327	0	0
CRIPT	9419	broad.mit.edu	37	2	46851311	46851311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:46851311C>A	ENST00000238892.3	+	5	383	c.251C>A	c.(250-252)gCg>gAg	p.A84E	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	84						cell junction|cytoplasm|dendritic spine		p.A84E(1)		kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGCATCTGTGCGATGTGTGGA	0.328000													21	93					1.55795e-14	3.08636e-14	0.608945	1	0
USP44	84101	broad.mit.edu	37	12	95927532	95927532	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:95927532T>C	ENST00000258499.3	-	2	789	c.501A>G	c.(499-501)gaA>gaG	p.E167E	USP44_ENST00000537435.2_Silent_p.E167E|USP44_ENST00000393091.2_Silent_p.E167E|USP44_ENST00000552440.1_Silent_p.E167E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	167					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E167E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGGGTGATTGTTCAAACCATG	0.383000													21	81					0	0	0.592651	0	0
TLN2	83660	broad.mit.edu	37	15	63132786	63132786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:63132786G>A	ENST00000561311.1	+	58	7836	c.7606G>A	c.(7606-7608)Gag>Aag	p.E2536K	TLN2_ENST00000306829.6_Missense_Mutation_p.E2536K|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2536					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E2536K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTACCCACCGAGCTGAGGGA	0.562000													4	19					0	0	0.150653	0	0
GABRG1	2565	broad.mit.edu	37	4	46086071	46086071	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:46086071C>A	ENST00000295452.4	-	3	421		c.e3-1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.?(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GTGGGCCTCACTGCAAAATAT	0.264000													4	10					0.014758	0.0159402	0.184627	1	0
SEMA3A	10371	broad.mit.edu	37	7	83636733	83636733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:83636733C>T	ENST00000265362.3	-	10	1390	c.1076G>A	c.(1075-1077)aGg>aAg	p.R359K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R359K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	359	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.R359K(1)		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						GGGTCCATCCCTGTGGGCATA	0.438000													36	73					0	0	0.804634	0	0
DNAH5	1767	broad.mit.edu	37	5	13786382	13786382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:13786382C>A	ENST00000265104.4	-	52	8830	c.8726G>T	c.(8725-8727)cGt>cTt	p.R2909L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2909					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2909H(1)|p.R2909L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATATTCAGACGCTCTTTTAG	0.433000									Kartagener syndrome				12	49					3.07112e-06	4.16794e-06	0.387290	1	0
TRBV7-1	28597	broad.mit.edu	37	7	142032319	142032319	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:142032319G>T	ENST00000547918.2	+	0	172																											TCCAATTTCAGGTCATAATGC	0.507000													7	12					5.4927e-09	8.83058e-09	0.307466	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751340	26751340	+	Silent	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:26751340T>G	ENST00000396641.2	+	2	769	c.177T>G	c.(175-177)ccT>ccG	p.P59P	LRRC3B_ENST00000456208.2_Silent_p.P59P|LRRC3B_ENST00000417744.1_Silent_p.P59P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	59	LRRNT.					integral to membrane		p.P59P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGGAAATACCTAGAGATCTTC	0.423000													9	42					0	0	0.307466	0	0
ENTPD1	953	broad.mit.edu	37	10	97583120	97583120	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:97583120A>T	ENST00000539125.1	+	0	467				ENTPD1_ENST00000371205.4_Splice_Site_p.K48_splice|ENTPD1_ENST00000453258.2_Splice_Site_p.K55_splice|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000371207.3_Splice_Site_p.K60_splice|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001164183.1	NP_001157655.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						cell adhesion	integral to plasma membrane	ATP binding	p.K48M(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GAAAACGTTAAGGTAAGTCAA	0.458000													11	56					0	0	0.387290	0	0
LILRA1	11024	broad.mit.edu	37	19	55107774	55107774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:55107774C>A	ENST00000251372.3	+	7	1261	c.1079C>A	c.(1078-1080)gCg>gAg	p.A360E	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	360	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.A360V(1)|p.A360E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGACCAAGGCGGGAGCAGCT	0.587000													14	60					2.31682e-05	2.98899e-05	0.479597	1	0
OR4K15	81127	broad.mit.edu	37	14	20443947	20443947	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:20443947G>C	ENST00000305051.5	+	1	345	c.270G>C	c.(268-270)ctG>ctC	p.L90L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L90L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCAAACCTGTCATTTATAG	0.453000													19	114					0	0	0.639603	0	0
KIAA1614	57710	broad.mit.edu	37	1	180886014	180886014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:180886014C>A	ENST00000367588.4	+	2	830	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	259								p.L259M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TAGCACATCCCTGACCTCCGA	0.582000													32	156					3.03874e-20	6.35097e-20	0.779181	1	0
BMPR1A	657	broad.mit.edu	37	10	88681386	88681386	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:88681386A>G	ENST00000372037.2	+	11	1813	c.1276A>G	c.(1276-1278)Atc>Gtc	p.I426V		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	426	Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	p.I426V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CCAGCCCTACATCATGGCTGA	0.488000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				19	120					0	0	0.592651	0	0
TMCO3	55002	broad.mit.edu	37	13	114193696	114193696	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:114193696A>T	ENST00000434316.2	+	10	1923	c.1564A>T	c.(1564-1566)Atg>Ttg	p.M522L	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	522						integral to membrane	solute:hydrogen antiporter activity	p.M522L(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGACGTCTCCATGGAGCTGGG	0.642000													10	45					0	0	0.411799	0	0
RAI2	10742	broad.mit.edu	37	X	17818841	17818841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:17818841C>A	ENST00000545871.1	-	3	1750	c.1290G>T	c.(1288-1290)atG>atT	p.M430I	RAI2_ENST00000415486.3_Missense_Mutation_p.M380I|RAI2_ENST00000360011.1_Missense_Mutation_p.M430I|RAI2_ENST00000451717.1_Missense_Mutation_p.M430I|RAI2_ENST00000331511.1_Missense_Mutation_p.M430I	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	430					embryo development			p.M430N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTCGCCCACCATCTCAATGT	0.547000													6	145					0.00116845	0.00134548	0.217242	1	0
SLC47A2	146802	broad.mit.edu	37	17	19611069	19611069	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:19611069C>G	ENST00000350657.5	-	8	891	c.717G>C	c.(715-717)gaG>gaC	p.E239D	SLC47A2_ENST00000325411.5_Missense_Mutation_p.E275D|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	275						integral to membrane|plasma membrane	drug:hydrogen antiporter activity	p.E275D(1)|p.E239D(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CTGCCCACGTCTCCAGGTGCA	0.632000													2	4					0	0	0.115264	0	0
OR2F1	26211	broad.mit.edu	37	7	143657537	143657537	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:143657537G>C	ENST00000392899.1	+	1	511	c.474G>C	c.(472-474)gtG>gtC	p.V158V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V158V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTCTCCTGTGCAGACTGCTA	0.527000													19	46					0	0	0.575678	0	0
NBAS	51594	broad.mit.edu	37	2	15358906	15358906	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:15358906G>A	ENST00000281513.5	-	48	6448	c.6423C>T	c.(6421-6423)ccC>ccT	p.P2141P	NBAS_ENST00000441750.1_Silent_p.P2021P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2141								p.P2141P(1)		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						CCTGTCTCTGGGGCCAGGAGG	0.493000													15	83					0	0	0.520397	0	0
PTPN5	84867	broad.mit.edu	37	11	18765712	18765712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:18765712G>T	ENST00000396170.1	-	4	1396	c.132C>A	c.(130-132)gaC>gaA	p.D44E	PTPN5_ENST00000396167.2_Missense_Mutation_p.D44E|PTPN5_ENST00000358540.2_Missense_Mutation_p.D44E|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.D20E|PTPN5_ENST00000396171.4_Missense_Mutation_p.D44E	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672000													24	124					1.85244e-09	3.03655e-09	0.654019	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	40					0	0	0.150653	0	0
GRAP2	9402	broad.mit.edu	37	22	40366981	40366981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr22:40366981G>T	ENST00000344138.4	+	8	1149	c.886G>T	c.(886-888)Gag>Tag	p.E296*	GRAP2_ENST00000399090.2_Nonsense_Mutation_p.E183*|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.E296*|GRAP2_ENST00000544756.1_Nonsense_Mutation_p.E224*|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000540310.1_Nonsense_Mutation_p.E230*	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	296	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.E296*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCACAGCGGGGAGGTGGTGGA	0.642000													10	35					4.68919e-08	7.15358e-08	0.361761	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493424	62493424	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:62493424C>G	ENST00000369916.3	+	1	859	c.531C>G	c.(529-531)tgC>tgG	p.C177W		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	177							hydrolase activity	p.C177W(1)		endometrium(2)|kidney(1)|lung(3)	6						TCATCTGCTGCGAAGGCAACG	0.672000													3	11					0	0	0.150653	0	0
LACC1	144811	broad.mit.edu	37	13	44457980	44457980	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:44457980A>G	ENST00000441843.1	+	4	1300	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	LACC1_ENST00000325686.6_Missense_Mutation_p.Q272R	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	272								p.Q272R(1)									ACCACAAATCAGAGAGGAGTC	0.408000													19	82					0	0	0.608945	0	0
ERP44	23071	broad.mit.edu	37	9	102778708	102778708	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:102778708C>A	ENST00000262455.6	-	8	857	c.658G>T	c.(658-660)Gat>Tat	p.D220Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	220					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	p.D220Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TACACCATATCCGGAGCAGAA	0.299000													10	51					0.00829132	0.00914451	0.361761	1	0
WASL	8976	broad.mit.edu	37	7	123349179	123349179	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:123349179T>C	ENST00000223023.4	-	2	548	c.216A>G	c.(214-216)ccA>ccG	p.P72P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	72	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P72P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGATCTCTGTGGATTGTCCT	0.343000													22	46					0	0	0.608945	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554575	42554575	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:42554575G>C	ENST00000381668.5	-	17	1697	c.1466C>G	c.(1465-1467)aCa>aGa	p.T489R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T474R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	489					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T489R(1)|p.T474R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCACTGCTGTGTGACAGAC	0.363000													11	68					0	0	0.435327	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534764	5534764	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:5534764C>A	ENST00000397747.3	+	3	323	c.75C>A	c.(73-75)gtC>gtA	p.V25V	PDCD1LG2_ENST00000397745.2_Silent_p.V25V	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	25	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.V25V(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CAGTGACAGTCCCTAAGGAAC	0.408000													8	58					3.09899e-07	4.54518e-07	0.307466	1	0
OR8H2	390151	broad.mit.edu	37	11	55873077	55873077	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:55873077C>A	ENST00000313503.1	+	1	559	c.559C>A	c.(559-561)Ctg>Atg	p.L187M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AATTTTAGCTCTGTCCTGCAC	0.403000										HNSCC(53;0.14)			36	187					2.87052e-16	5.82465e-16	0.812448	1	0
SLC5A7	60482	broad.mit.edu	37	2	108618444	108618444	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:108618444G>T	ENST00000264047.2	+	6	965	c.689G>T	c.(688-690)gGa>gTa	p.G230V	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G125V|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G230V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	230					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G230V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCGTGGCTGGGAACTGTTGAC	0.453000													11	51					6.42651e-13	1.22661e-12	0.387290	1	0
CRYAB	1410	broad.mit.edu	37	11	111782353	111782353	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:111782353C>A	ENST00000533475.1	-	2	545	c.96G>T	c.(94-96)ctG>ctT	p.L32L	CRYAB_ENST00000527950.1_Silent_p.L32L|CRYAB_ENST00000526180.1_Silent_p.L32L|CRYAB_ENST00000533971.1_Silent_p.L32L|CRYAB_ENST00000531198.1_Silent_p.L32L|CRYAB_ENST00000227251.3_Silent_p.L32L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	32					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.L32L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CAGACTCCAACAGGTGCTCTC	0.597000													4	9					0.014758	0.0159402	0.184627	1	0
XYLT1	64131	broad.mit.edu	37	16	17294435	17294435	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:17294435A>C	ENST00000261381.6	-	4	1074	c.990T>G	c.(988-990)ttT>ttG	p.F330L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	330					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.F330L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAGGACAAAGGCGATTC	0.552000													22	132					0	0	0.624587	0	0
UBE3C	9690	broad.mit.edu	37	7	157000138	157000138	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:157000138T>A	ENST00000348165.5	+	12	1825	c.1465T>A	c.(1465-1467)Tct>Act	p.S489T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	489					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCTCCTATGTCTTTTGAAGA	0.348000													24	194					0	0	0.667858	0	0
RNF40	9810	broad.mit.edu	37	16	30776605	30776605	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:30776605G>C	ENST00000324685.6	+	7	1310	c.875G>C	c.(874-876)cGa>cCa	p.R292P	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.R292P|RNF40_ENST00000563683.1_Missense_Mutation_p.R292P	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	292					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	p.R292P(1)|p.R292Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGCGGAAGCGAGAGCAAAAG	0.597000													9	36					0	0	0.361761	0	0
KRT77	374454	broad.mit.edu	37	12	53096691	53096691	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:53096691G>A	ENST00000341809.3	-	1	556	c.528C>T	c.(526-528)gcC>gcT	p.A176A	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	176	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.A176A(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						caatgaaggaggcaaacttgt	0.522000													10	106					0	0	0.361761	0	0
OLFM3	118427	broad.mit.edu	37	1	102270473	102270473	+	Splice_Site	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:102270473T>A	ENST00000370103.4	-	6	913		c.e6-2		OLFM3_ENST00000338858.5_Splice_Site|OLFM3_ENST00000536598.1_Splice_Site|OLFM3_ENST00000462354.1_Splice_Site	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region		p.?(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTACCAGACCTGAGAAGAAGG	0.353000													13	51					0	0	0.411799	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963752	73963752	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:73963752C>T	ENST00000373468.1	-	3	1291	c.640G>A	c.(640-642)Gca>Aca	p.A214T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A214T			Q5QGS0	K2022_HUMAN	KIAA2022	214					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A214T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTCTCCTGCCCTTGACTTA	0.448000													26	108					0	0	0.681144	0	0
CCDC108	255101	broad.mit.edu	37	2	219892628	219892628	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:219892628C>A	ENST00000341552.5	-	13	2038	c.1955G>T	c.(1954-1956)aGt>aTt	p.S652I	CCDC108_ENST00000453220.1_Missense_Mutation_p.S652I|CCDC108_ENST00000441968.1_Missense_Mutation_p.S652I|CCDC108_ENST00000409865.3_Missense_Mutation_p.S641I|CCDC108_ENST00000410037.1_Missense_Mutation_p.S587I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	652						integral to membrane	structural molecule activity	p.S652I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTCTACACTGATGGGCGG	0.612000													9	30					0.0809354	0.0845775	0.387290	1	0
HERC2P2	400322	broad.mit.edu	37	15	23300079	23300079	+	RNA	SNP	T	T	G	rs417713	by1000genomes	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:23300079T>G	ENST00000560464.1	-	0	4208																											GTGCTGCACGTTGACAGGCGT	0.607000													5	23					0	0	0.184627	0	0
NETO1	81832	broad.mit.edu	37	18	70451042	70451042	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:70451042T>A	ENST00000327305.6	-	7	1396	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	NETO1_ENST00000583169.1_Nonsense_Mutation_p.K247*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.K246*	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	247	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.K247*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AACTTAGCTTTCAAATCCTCC	0.468000													33	105					0	0	0.740014	0	0
TAC1	6863	broad.mit.edu	37	7	97362026	97362026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:97362026G>T	ENST00000319273.5	+	2	399	c.102G>T	c.(100-102)tgG>tgT	p.W34C	TAC1_ENST00000346867.4_Missense_Mutation_p.W34C|TAC1_ENST00000350485.4_Missense_Mutation_p.W34C	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	34					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		p.W34C(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GGTCCGACTGGTACGACAGCG	0.547000													22	60					1.50039e-11	2.66878e-11	0.608945	1	0
PAK4	10298	broad.mit.edu	37	19	39660361	39660361	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:39660361C>T	ENST00000599386.1	+	3	349	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PAK4_ENST00000358301.3_Silent_p.P56P|PAK4_ENST00000321944.4_Silent_p.P56P|PAK4_ENST00000593690.1_Silent_p.P56P|PAK4_ENST00000599470.1_Silent_p.P56P|PAK4_ENST00000360442.3_Silent_p.P56P|PAK4_ENST00000435673.2_Silent_p.P56P	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	56	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P56P(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCGTCGACCCCGCCTGCATCA	0.711000													9	23					0	0	0.361761	0	0
PWP1	11137	broad.mit.edu	37	12	108086637	108086637	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:108086637G>T	ENST00000412830.3	+	4	534	c.366G>T	c.(364-366)ggG>ggT	p.G122G	PWP1_ENST00000541166.1_Silent_p.G60G	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	122					transcription, DNA-dependent	nucleus		p.G122G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGGTCTACGGGAGTAATGATC	0.338000													7	71					1.12685e-05	1.49531e-05	0.307466	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76509915	76509915	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:76509915G>C	ENST00000307431.8	+	12	2117	c.1732G>C	c.(1732-1734)Ggt>Cgt	p.G578R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G582R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G506R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G530R|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	579	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G506R(1)|p.G554R(1)|p.G578R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAACACTGGTTACAGAGG	0.463000													5	57					0	0	0.278610	0	0
FCN2	2220	broad.mit.edu	37	9	137777622	137777622	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:137777622G>T	ENST00000350339.2	+	5	338	c.324G>T	c.(322-324)caG>caT	p.Q108H	FCN2_ENST00000291744.6_Missense_Mutation_p.Q146H	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	146	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.Q146H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGTTTTCCAGCGGAGGGTGG	0.652000													6	42					8.12818e-05	9.93445e-05	0.248553	1	0
NEDD1	121441	broad.mit.edu	37	12	97313900	97313900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:97313900C>A	ENST00000266742.4	+	6	825	c.486C>A	c.(484-486)aaC>aaA	p.N162K	NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000457368.2_Missense_Mutation_p.N73K|NEDD1_ENST00000411739.2_Missense_Mutation_p.N73K|NEDD1_ENST00000429527.2_Missense_Mutation_p.N162K|NEDD1_ENST00000557644.1_Missense_Mutation_p.N169K	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	162					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		p.N162K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATGGTAGTAACCAGGTACAGT	0.323000													13	98					7.93312e-07	1.11651e-06	0.457914	1	0
WWP2	11060	broad.mit.edu	37	16	69964119	69964119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:69964119G>T	ENST00000359154.2	+	13	1504	c.1403G>T	c.(1402-1404)cGc>cTc	p.R468L	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R352L|WWP2_ENST00000356003.2_Missense_Mutation_p.R468L|WWP2_ENST00000448661.1_Missense_Mutation_p.R468L|WWP2_ENST00000568684.1_Missense_Mutation_p.R29L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	468	WW 4.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.R468L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAATACCCGCACCACCACC	0.582000											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	49					0.00136819	0.00157117	0.411799	1	0
RAI2	10742	broad.mit.edu	37	X	17818842	17818842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:17818842A>T	ENST00000545871.1	-	3	1749	c.1289T>A	c.(1288-1290)aTg>aAg	p.M430K	RAI2_ENST00000415486.3_Missense_Mutation_p.M380K|RAI2_ENST00000360011.1_Missense_Mutation_p.M430K|RAI2_ENST00000451717.1_Missense_Mutation_p.M430K|RAI2_ENST00000331511.1_Missense_Mutation_p.M430K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	430					embryo development			p.M430N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTCGCCCACCATCTCAATGTT	0.547000													6	144					0	0	0.217242	0	0
ABCB5	340273	broad.mit.edu	37	7	20739552	20739552	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:20739552G>T	ENST00000404938.2	+	18	2911	c.2259_splice	c.e18+1	p.Q753_splice	ABCB5_ENST00000258738.6_Splice_Site_p.Q308_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	308	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.Q308H(1)|p.Q753H(1)		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						ATTTCATGCAGGTAAGCTTTT	0.289000													6	32					0.00198382	0.00225336	0.248553	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350316	76350316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:76350316G>T	ENST00000307431.8	+	3	474	c.89G>T	c.(88-90)tGt>tTt	p.C30F	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.C34F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.C6F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.C30F|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	31					cell adhesion|signal transduction	integral to membrane	receptor binding	p.C6F(2)|p.C30F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAGATGACTGTGATGATCCT	0.468000													8	28					7.48243e-07	1.06746e-06	0.335167	1	0
KIRREL3	84623	broad.mit.edu	37	11	126301280	126301280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:126301280C>A	ENST00000525704.2	-	14	2030	c.1730G>T	c.(1729-1731)gGg>gTg	p.G577V	KIRREL3_ENST00000416561.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525144.2_Intron	NM_001161707.1	NP_001155179.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	0					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.G577V(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTCTCTGTCCCCCTCCCTGA	0.602000													3	10					0.004672	0.00522165	0.115264	1	0
NFIC	4782	broad.mit.edu	37	19	3452574	3452574	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:3452574C>T	ENST00000589123.1	+	8	1272	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	NFIC_ENST00000395111.3_Silent_p.A384A|NFIC_ENST00000346156.5_Silent_p.A360A|NFIC_ENST00000341919.3_Silent_p.A393A|NFIC_ENST00000443272.2_Silent_p.A393A|NFIC_ENST00000590282.1_Silent_p.A393A|NFIC_ENST00000586919.1_Silent_p.A360A	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	393					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A384A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCACACGGCCATCCGCTACC	0.657000													27	118					0	0	0.729181	0	0
PCNX	22990	broad.mit.edu	37	14	71576295	71576295	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:71576295G>T	ENST00000304743.2	+	35	7317	c.6871G>T	c.(6871-6873)Ggc>Tgc	p.G2291C	PCNX_ENST00000238570.5_Missense_Mutation_p.G2219C|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.G2180C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2291						integral to membrane		p.G2291C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCCGCAGGAGGGCATGGAAGG	0.483000													5	26					2.7689e-08	4.25514e-08	0.248553	1	0
MAST1	22983	broad.mit.edu	37	19	12951814	12951814	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:12951814C>G	ENST00000251472.4	+	3	221	c.182C>G	c.(181-183)cCc>cGc	p.P61R	MAST1_ENST00000591495.1_Missense_Mutation_p.P57R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	61					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P61R(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCAGCAGTCCCCTGGACAGC	0.602000													7	74					0	0	0.248553	0	0
DOCK10	55619	broad.mit.edu	37	2	225710297	225710297	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:225710297G>A	ENST00000409592.3	-	20	2393	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	DOCK10_ENST00000258390.7_Silent_p.H766H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	766	DHR-1.						GTP binding	p.H766H(1)		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)		CACAGGTGACGTGATAAAAAG	0.408000													19	81					0	0	0.557998	0	0
ZNF548	147694	broad.mit.edu	37	19	57910758	57910758	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:57910758G>T	ENST00000366197.5	+	3	1353	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	ZNF548_ENST00000336128.7_Missense_Mutation_p.S380I|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S380I(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGAGTGCAGTGTATGTGGG	0.393000													8	44					5.18039e-06	7.00778e-06	0.278610	1	0
FAS	355	broad.mit.edu	37	10	90768652	90768652	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:90768652A>T	ENST00000355740.2	+	4	561	c.341A>T	c.(340-342)gAa>gTa	p.E114V	FAS_ENST00000352159.4_Missense_Mutation_p.E114V|FAS_ENST00000357339.2_Missense_Mutation_p.E114V|FAS_ENST00000355279.2_Missense_Mutation_p.E114V|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	114					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	p.E114V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CTAGGCTTAGAAGTGGAAATA	0.408000													57	340					0	0	0.870114	0	0
OR51M1	390059	broad.mit.edu	37	11	5410856	5410856	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5410856C>A	ENST00000328611.3	+	1	250	c.228C>A	c.(226-228)tcC>tcA	p.S76S	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	76						integral to membrane	olfactory receptor activity	p.S76S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTACTATCCTTGCTGGCCC	0.468000													22	90					7.45023e-12	1.33656e-11	0.592651	1	0
RAB4A	5867	broad.mit.edu	37	1	229438646	229438646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:229438646G>T	ENST00000366690.4	+	7	787	c.579G>T	c.(577-579)caG>caT	p.Q193H	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	188							GDP binding|GTP binding|GTPase activity	p.Q193H(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CAGGTATTCAGTACGGAGATG	0.502000													15	77					1.52009e-12	2.84932e-12	0.479597	1	0
PCSK5	5125	broad.mit.edu	37	9	78601129	78601129	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:78601129A>G	ENST00000545128.1	+	3	917	c.379A>G	c.(379-381)Aat>Gat	p.N127D	PCSK5_ENST00000376752.4_Missense_Mutation_p.N127D|PCSK5_ENST00000376767.3_Missense_Mutation_p.N127D	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	127	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.N127D(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACCTATTTCAATGATCCCAA	0.473000													14	67					0	0	0.539581	0	0
MYOM2	9172	broad.mit.edu	37	8	2057201	2057201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:2057201C>A	ENST00000262113.4	+	25	3200	c.3059C>A	c.(3058-3060)tCg>tAg	p.S1020*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.S445*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1020					muscle contraction	myosin filament	structural constituent of muscle	p.S1020*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTCTGAAATCGGAATTAGCT	0.413000													9	34					0.000442599	0.000521145	0.335167	1	0
RASIP1	54922	broad.mit.edu	37	19	49243435	49243435	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:49243435C>T	ENST00000222145.4	-	2	309	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	35					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.L35L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCGCCGCCCCAGCTTCGCCA	0.647000													6	52					0	0	0.278610	0	0
ATP9B	374868	broad.mit.edu	37	18	77133995	77133995	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:77133995G>T	ENST00000426216.2	+	28	3185	c.3168G>T	c.(3166-3168)ctG>ctT	p.L1056L	ATP9B_ENST00000543761.1_Silent_p.L377L|ATP9B_ENST00000307671.7_Silent_p.L1056L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1056					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1056L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCGAGCTGCTGATGGTGGCGC	0.597000													3	42					0.00909568	0.00995286	0.150653	1	0
OR2M7	391196	broad.mit.edu	37	1	248487473	248487473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:248487473G>T	ENST00000317965.2	-	1	426	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T133N(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGATTGGTGTATCTTAG	0.433000													36	178					3.76114e-14	7.38101e-14	0.796494	1	0
CHAMP1	283489	broad.mit.edu	37	13	115091623	115091623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:115091623G>T	ENST00000361283.1	+	3	2615	c.2306G>T	c.(2305-2307)cGt>cTt	p.R769L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.R769L(1)									AAATGTCCACGTTGTAATTTT	0.363000													15	58					1.5739e-10	2.66352e-10	0.500413	1	0
TTC40	54777	broad.mit.edu	37	10	134664738	134664738	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:134664738C>T	ENST00000368586.5	-	40	5746	c.5646G>A	c.(5644-5646)ctG>ctA	p.L1882L	TTC40_ENST00000263170.5_Silent_p.L43L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	43								p.L43L(1)|p.L1882L(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGAGCATGTCCAGAGCCATTT	0.612000													7	28					0	0	0.248553	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618297	175618297	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:175618297C>T	ENST00000348749.5	-	6	789	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	CHRNA1_ENST00000409542.1_Missense_Mutation_p.V156I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V238I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V238I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V263I|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	263					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V263I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGGATGATGACGTTGACGATG	0.577000													16	83					0	0	0.539581	0	0
PSPH	5723	broad.mit.edu	37	7	56087351	56087351	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:56087351T>A	ENST00000395471.3	-	5	1022	c.217A>T	c.(217-219)Agg>Tgg	p.R73W	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.R73W			P78330	SERB_HUMAN	phosphoserine phosphatase	73					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.R73W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCTGCTCCCTGGAGGGCTGG	0.607000													5	31					0	0	0.184627	0	0
SIRPG	55423	broad.mit.edu	37	20	1617081	1617081	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:1617081G>T	ENST00000381580.1	-	3	581	c.402C>A	c.(400-402)acC>acA	p.T134T	SIRPG_ENST00000381583.2_Silent_p.T167T|SIRPG_ENST00000303415.3_Silent_p.T167T|SIRPG_ENST00000216927.4_Silent_p.T167T|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	167	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.T167T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGACTCACAGGTGAAACTCA	0.547000													10	42					0.0581538	0.060923	0.335167	1	0
C12orf42	374470	broad.mit.edu	37	12	103699904	103699904	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:103699904T>A	ENST00000548048.1	-	8	774	c.278A>T	c.(277-279)cAg>cTg	p.Q93L	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.Q160L|C12orf42_ENST00000378113.2_Missense_Mutation_p.Q160L|C12orf42_ENST00000548789.1_5'UTR			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	160								p.Q160L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTTCCAAGCCTGCTTGGGTGC	0.493000													10	49					0	0	0.335167	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035123	52035123	+	RNA	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:52035123C>T	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000600477.1_RNA																							ATCCCCTTATCAAGGTGAATG	0.438000													5	21					0	0	0.217242	0	0
OR5L2	26338	broad.mit.edu	37	11	55595244	55595244	+	Missense_Mutation	SNP	C	C	A	rs142870159		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:55595244C>A	ENST00000378397.1	+	1	550	c.550C>A	c.(550-552)Ctc>Atc	p.L184I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTACCCCCTCTCCTAAGTCT	0.463000										HNSCC(27;0.073)			29	200					2.70662e-09	4.40221e-09	0.740014	1	0
LINC01098	285501	broad.mit.edu	37	4	178896990	178896990	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:178896990G>T	ENST00000507870.1	+	5	655	c.193G>T	c.(193-195)Gat>Tat	p.D65Y															p.D65Y(2)		lung(8)|prostate(1)	9						TAGAATGATGGATTGTCATCA	0.418000													18	83					5.35267e-07	7.79587e-07	0.557998	1	0
NRCAM	4897	broad.mit.edu	37	7	107871486	107871486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:107871486C>T	ENST00000379028.3	-	8	1009	c.539G>A	c.(538-540)tGg>tAg	p.W180*	NRCAM_ENST00000425651.2_Nonsense_Mutation_p.W180*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.W180*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.W180*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.W174*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.W180*			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	180	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.W174*(1)|p.W180*(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTATCCATCCAAAATATTAT	0.323000													4	56					0	0	0.150653	0	0
INSL5	10022	broad.mit.edu	37	1	67263820	67263820	+	Missense_Mutation	SNP	C	C	A	rs144286383		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:67263820C>A	ENST00000304526.2	-	2	318	c.284G>T	c.(283-285)gGt>gTt	p.G95V		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	95						extracellular region	hormone activity	p.G95V(1)		breast(2)|endometrium(1)|lung(5)	8						CATCTGTCCACCCCAAAGACG	0.478000													11	76					5.16669e-11	8.96131e-11	0.387290	1	0
OLFM1	10439	broad.mit.edu	37	9	138011774	138011774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:138011774G>T	ENST00000252854.4	+	6	1341	c.1154G>T	c.(1153-1155)gGg>gTg	p.G385V	OLFM1_ENST00000371796.3_Missense_Mutation_p.G376V|OLFM1_ENST00000371793.3_Missense_Mutation_p.G403V	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	403	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CGCAGCGCCGGGGAGGCCTTC	0.602000													4	34					0.150653	0.154725	0.150653	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926762	130926762	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:130926762A>T	ENST00000261655.4	-	8	1247	c.1084T>A	c.(1084-1086)Tgc>Agc	p.C362S	RIMBP2_ENST00000536002.1_Missense_Mutation_p.C270S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.C270S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	362	Fibronectin type-III 1.					cell junction|synapse		p.C362S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGTAGGTGCAGGCTGCCATG	0.622000													5	45					0	0	0.184627	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33959006	33959006	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:33959006C>T	ENST00000361328.3	+	7	1817	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	555					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P555L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCAGCCACCCACCAGGGACA	0.602000													4	69					0	0	0.150653	0	0
CORO1A	11151	broad.mit.edu	37	16	30198005	30198005	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:30198005C>T	ENST00000219150.5	+	3	590	c.285C>T	c.(283-285)aaC>aaT	p.N95N	CORO1A_ENST00000565497.1_Silent_p.N95N|CORO1A_ENST00000570045.1_Silent_p.N95N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	95					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	p.N95N(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACAATGACAACGTCATTGCCA	0.602000													5	16					0	0	0.184627	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701647	56701647	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:56701647C>T	ENST00000586855.2	-	5	1350	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.G346D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	346					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G346D(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTTCTTGGCCATCTGGGTG	0.547000													17	94					0	0	0.557998	0	0
SORCS1	114815	broad.mit.edu	37	10	108448049	108448049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:108448049G>T	ENST00000263054.6	-	10	1468	c.1461C>A	c.(1459-1461)aaC>aaA	p.N487K	SORCS1_ENST00000369698.1_Missense_Mutation_p.N22K|SORCS1_ENST00000344440.6_Missense_Mutation_p.N487K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	487				N -> Y (in Ref. 1; AAL56667).		integral to membrane	neuropeptide receptor activity|protein binding	p.N487K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTTCACTTGGTTGTCAATCT	0.463000													10	88					9.70103e-10	1.60278e-09	0.361761	1	0
MYH3	4621	broad.mit.edu	37	17	10543658	10543658	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:10543658C>G	ENST00000583535.1	-	21	2505	c.2418G>C	c.(2416-2418)gtG>gtC	p.V806V	MYH3_ENST00000226209.7_Silent_p.V806V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	806	IQ.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V806V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTCCTCTGCACCATCTTCT	0.522000													6	65					0	0	0.248553	0	0
DBN1	1627	broad.mit.edu	37	5	176887645	176887645	+	Splice_Site	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:176887645C>T	ENST00000292385.5	-	10	1446	c.837_splice	c.e10+1	p.E279_splice	DBN1_ENST00000393563.4_Splice_Site_p.E9_splice|DBN1_ENST00000393565.1_Splice_Site_p.E277_splice|DBN1_ENST00000309007.5_Splice_Site_p.E277_splice|DBN1_ENST00000512501.1_Splice_Site_p.E9_splice	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	277					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.E277E(1)|p.E279E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CAGCTCTCACCTCCACCTCCG	0.607000													5	39					0	0	0.217242	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708435	12708435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:12708435C>A	ENST00000380682.1	+	8	1309	c.803C>A	c.(802-804)aCt>aAt	p.T268N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	268	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.T258N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACAGGAGACTCTAACTCAG	0.502000													18	82					9.7654e-05	0.000119007	0.557998	1	0
PARP4	143	broad.mit.edu	37	13	25060347	25060347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:25060347C>A	ENST00000381989.3	-	11	1416	c.1311G>T	c.(1309-1311)ttG>ttT	p.L437F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	437	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.L437F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGAACCATGCAACAAGGGCC	0.403000													13	64					7.03913e-09	1.11877e-08	0.411799	1	0
SELL	6402	broad.mit.edu	37	1	169670773	169670773	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:169670773G>A	ENST00000236147.4	-	7	1208	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	337					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.P337S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACTGCCACTGGAATGAAGAGG	0.403000													4	11					0	0	0.150653	0	0
MMP2	4313	broad.mit.edu	37	16	55519270	55519270	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:55519270C>A	ENST00000219070.4	+	4	1098	c.589C>A	c.(589-591)Cca>Aca	p.P197T	MMP2_ENST00000437642.2_Missense_Mutation_p.P147T|MMP2_ENST00000570308.1_Missense_Mutation_p.P121T|MMP2_ENST00000543485.1_Missense_Mutation_p.P121T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	197	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.P197T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCCTTCGCCCCAGGCACTGG	0.577000													14	90					0.000422831	0.000499276	0.500413	1	0
MDGA2	161357	broad.mit.edu	37	14	47530708	47530708	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:47530708C>T	ENST00000426342.1	-	7	1121	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MDGA2_ENST00000357362.3_Silent_p.E125E|MDGA2_ENST00000439988.2_Silent_p.E354E|MDGA2_ENST00000399232.2_Silent_p.E423E	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	354	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.E125E(2)|p.E423E(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATATTTTCACCTCACGGCCAA	0.388000													9	57					0	0	0.307466	0	0
OR52N4	390072	broad.mit.edu	37	11	5776693	5776693	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5776693T>C	ENST00000317254.3	+	1	771	c.723T>C	c.(721-723)aaT>aaC	p.N241N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N241N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGGCCTTTAATACCTGCACTG	0.493000													15	138					0	0	0.457914	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960764	51960764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:51960764C>A	ENST00000321424.3	-	2	750	c.684G>T	c.(682-684)ttG>ttT	p.L228F	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	228	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L228F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTGTCCCAGGCAAGGTCACCT	0.647000													5	15					5.9392e-07	8.56064e-07	0.217242	1	0
LILRP2	79166	broad.mit.edu	37	19	55220481	55220481	+	RNA	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:55220481C>G	ENST00000413439.1	+	0	619																											CCTGGATACCCAGGGTTACTA	0.587000													3	10					0	0	0.115264	0	0
PUM1	9698	broad.mit.edu	37	1	31426788	31426788	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:31426788A>G	ENST00000373747.3	-	15	2466	c.2367T>C	c.(2365-2367)gcT>gcC	p.A789A	PUM1_ENST00000440538.2_Silent_p.A762A|PUM1_ENST00000257075.5_Silent_p.A788A|PUM1_ENST00000426105.2_Silent_p.A788A|PUM1_ENST00000424085.2_Silent_p.A546A|PUM1_ENST00000423018.2_Silent_p.A644A|PUM1_ENST00000373741.4_Silent_p.A824A|PUM1_ENST00000373742.2_Silent_p.A729A	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	788	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.A788A(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCGCCTGGAGCAGCAGAGA	0.507000													15	107					0	0	0.479597	0	0
KLHL30	377007	broad.mit.edu	37	2	239049495	239049495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:239049495G>T	ENST00000409223.1	+	2	207	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	KLHL30_ENST00000305959.4_Missense_Mutation_p.D16Y			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	34	BTB.							p.D34Y(2)		lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAAGCTGGCCGACGTCACACT	0.667000													5	28					0.184627	0.186862	0.184627	1	0
TTLL8	164714	broad.mit.edu	37	22	50470524	50470524	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr22:50470524C>A	ENST00000266182.6	-	11	1297	c.1298G>T	c.(1297-1299)tGc>tTc	p.C433F	TTLL8_ENST00000440475.1_Missense_Mutation_p.C413F					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GGCGTTGTTGCACAGGTGGAT	0.662000													4	86					0.184627	0.186862	0.184627	1	0
SLC26A3	1811	broad.mit.edu	37	7	107427872	107427872	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:107427872G>T	ENST00000340010.5	-	7	1002	c.818C>A	c.(817-819)tCc>tAc	p.S273Y	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S238Y	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	273					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.S273Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTAACAATGGATACAACCAA	0.348000													30	158					5.45727e-16	1.102e-15	0.729181	1	0
POT1	25913	broad.mit.edu	37	7	124503540	124503540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:124503540C>A	ENST00000357628.3	-	8	1008	c.410G>T	c.(409-411)cGt>cTt	p.R137L	POT1_ENST00000393329.1_Missense_Mutation_p.R6L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	137					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R137L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGCCCAAACACGTAAGGCTTC	0.438000													51	114					9.57592e-29	2.08476e-28	0.870114	1	0
ACCSL	390110	broad.mit.edu	37	11	44069676	44069676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:44069676G>T	ENST00000378832.1	+	1	146	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	30							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L30F(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCCAGCTGTTGGAGATAACGC	0.597000													5	49					0.014758	0.0159402	0.184627	1	0
XYLT1	64131	broad.mit.edu	37	16	17235204	17235204	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:17235204C>A	ENST00000261381.6	-	7	1477	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	465					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.D465Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGAGCCGATCCAGGCCCTGC	0.587000													12	46					0.00185496	0.00212431	0.435327	1	0
MYT1	4661	broad.mit.edu	37	20	62839561	62839561	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:62839561C>T	ENST00000536311.1	+	7	1376	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	MYT1_ENST00000328439.1_Missense_Mutation_p.P338S|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	338					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P338S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGTCCCAAGCCTGAGTACTC	0.582000													19	84					0	0	0.592651	0	0
LPIN1	23175	broad.mit.edu	37	2	11922600	11922600	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:11922600G>T	ENST00000256720.2	+	7	1216	c.1123G>T	c.(1123-1125)Gca>Tca	p.A375S	LPIN1_ENST00000396099.1_Missense_Mutation_p.A417S|LPIN1_ENST00000425416.2_Missense_Mutation_p.A381S|LPIN1_ENST00000396098.1_Missense_Mutation_p.A417S|LPIN1_ENST00000449576.2_Missense_Mutation_p.A460S|LPIN1_ENST00000396097.1_Missense_Mutation_p.A105S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	375					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.A375S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGTCCAGACAGCAAACAAGAC	0.522000													9	45					2.17888e-05	2.81972e-05	0.335167	1	0
OR10J3	441911	broad.mit.edu	37	1	159283954	159283954	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:159283954C>A	ENST00000332217.5	-	1	495	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G166C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATGGCAGGCCAAACACAGAT	0.502000													6	24					0.0215528	0.0229823	0.217242	1	0
ANKRD12	23253	broad.mit.edu	37	18	9257679	9257679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:9257679G>T	ENST00000383440.2	+	8	4602	c.4345G>T	c.(4345-4347)Gaa>Taa	p.E1449*	ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.E1472*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1449*	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1472						nucleus		p.E1472*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGCCAGACTGAACTGCCAGG	0.428000													12	45					1.08611e-07	1.62722e-07	0.387290	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321909	79321909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:79321909G>T	ENST00000428286.1	-	8	5404	c.4204C>A	c.(4204-4206)Caa>Aaa	p.Q1402K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q1761K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1761					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.Q1761K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTGCTTTGTTGATTGTCA	0.448000													5	46					8.12818e-05	9.93445e-05	0.248553	1	0
PACS1	55690	broad.mit.edu	37	11	65988115	65988115	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:65988115T>C	ENST00000320580.4	+	9	1085	c.1052T>C	c.(1051-1053)cTg>cCg	p.L351P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	351					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.L351P(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGCTTTGGGCTGGAGCATGTG	0.527000													6	44					0	0	0.248553	0	0
DCDC1	341019	broad.mit.edu	37	11	30932927	30932927	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:30932927C>A	ENST00000597505.1	-	26	3693	c.3694G>T	c.(3694-3696)Gtg>Ttg	p.V1232L	DCDC1_ENST00000339794.5_Missense_Mutation_p.V311L|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V311L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTCATAGACACTGCCAGCACA	0.403000													5	8					0.184627	0.186862	0.184627	1	0
ACVR1B	91	broad.mit.edu	37	12	52377917	52377917	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:52377917G>A	ENST00000257963.4	+	5	1023	c.946G>A	c.(946-948)Gca>Aca	p.A316T	ACVR1B_ENST00000415850.2_Missense_Mutation_p.A316T|ACVR1B_ENST00000542485.1_Missense_Mutation_p.A264T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A316T|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A357T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	316	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.A357T(1)|p.A316T(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TAGTGGGCTGGCACACCTGCA	0.542000													4	25					0	0	0.184627	0	0
PRPF40A	55660	broad.mit.edu	37	2	153535966	153535966	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:153535966G>T	ENST00000410080.1	-	7	1018	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	186	WW 1.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.P159P(1)|p.P55P(1)|p.P186P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATTCCTTCCAGGGGCATTTAG	0.328000													5	21					1.23904e-05	1.6185e-05	0.184627	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507107	74507107	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:74507107A>T	ENST00000354431.4	-	7	1699	c.1508T>A	c.(1507-1509)cTg>cAg	p.L503Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L503Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	503								p.L503Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTAGAAACAGAGCTTTTCT	0.333000													20	163					0	0	0.575678	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379988	379988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:379988G>T	ENST00000329962.6	+	16	2611	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.E871*(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TATGGACGTGGAGCGGGCCCT	0.682000													6	40					1.06961e-07	1.60827e-07	0.278610	1	0
COL1A2	1278	broad.mit.edu	37	7	94057003	94057003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:94057003G>T	ENST00000297268.6	+	49	3803	c.3332G>T	c.(3331-3333)gGt>gTt	p.G1111V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1111					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G1111V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TATGACTTTGGTTACGATGGA	0.537000										HNSCC(75;0.22)			29	75					2.24059e-21	4.73014e-21	0.706142	1	0
OR51I2	390064	broad.mit.edu	37	11	5475122	5475122	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5475122T>A	ENST00000341449.2	+	1	485	c.404T>A	c.(403-405)gTg>gAg	p.V135E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V135E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGCAACTGTGCTCACCACT	0.473000													21	103					0	0	0.624587	0	0
SC5D	6309	broad.mit.edu	37	11	121177914	121177914	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:121177914A>T	ENST00000264027.4	+	5	967	c.593A>T	c.(592-594)tAc>tTc	p.Y198F	SC5D_ENST00000534230.1_Missense_Mutation_p.Y198F|SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000392789.2_Missense_Mutation_p.Y198F	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		TTAAGTCTGTACATCTTGGTT	0.378000													6	166					0	0	0.248553	0	0
TOP3A	7156	broad.mit.edu	37	17	18196026	18196026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:18196026C>A	ENST00000321105.5	-	11	1428	c.1214G>T	c.(1213-1215)cGc>cTc	p.R405L	TOP3A_ENST00000542570.1_Missense_Mutation_p.R310L|TOP3A_ENST00000540524.1_Intron	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	405					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.R405L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTCCCATTGCGTGGGGTGGG	0.562000													11	52					0.000673444	0.000784121	0.361761	1	0
BMPR2	659	broad.mit.edu	37	2	203407114	203407114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:203407114G>T	ENST00000374580.4	+	10	1896	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	BMPR2_ENST00000374574.2_Missense_Mutation_p.V453L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	453	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.V453L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCAGGTTCTCGTGTCTAGGGA	0.423000													11	62					9.70103e-10	1.60278e-09	0.361761	1	0
CILP	8483	broad.mit.edu	37	15	65489472	65489472	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:65489472G>A	ENST00000261883.4	-	9	3318	c.3152C>T	c.(3151-3153)cCa>cTa	p.P1051L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1051					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P1051L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACTGCAAGTGGCAAGTGGTT	0.592000													7	54					0	0	0.248553	0	0
SCN3B	55800	broad.mit.edu	37	11	123513202	123513202	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:123513202G>T	ENST00000392770.2	-	3	1199	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	SCN3B_ENST00000299333.3_Missense_Mutation_p.P133T|SCN3B_ENST00000530277.1_Missense_Mutation_p.P133T	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	133	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.P133T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TTCACAAAGGGCCGATGCGCC	0.597000													16	33					6.72482e-11	1.15204e-10	0.479597	1	0
COL17A1	1308	broad.mit.edu	37	10	105794442	105794442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:105794442G>T	ENST00000353479.5	-	51	3993	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M	COL17A1_ENST00000369733.3_Missense_Mutation_p.L1153M	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1235	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.L1235M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAGGTTGCCAGGGCTCCTGAG	0.652000													6	16					5.9392e-07	8.56064e-07	0.217242	1	0
IFNL1	282618	broad.mit.edu	37	19	39788642	39788642	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:39788642C>A	ENST00000333625.2	+	3	385	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_172140.1	NP_742152.1			interferon, lambda 1									p.A96A(1)									CTGAGCTGGCCCTGACGCTGA	0.642000													5	48					8.12818e-05	9.93445e-05	0.248553	1	0
SIMC1	375484	broad.mit.edu	37	5	175716732	175716732	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:175716732A>G	ENST00000443967.1	+	4	555	c.148A>G	c.(148-150)Aga>Gga	p.R50G	SIMC1_ENST00000429602.2_Missense_Mutation_p.R69G|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1									p.R50G(1)									TGACCTGACAAGAGCTGAGGG	0.448000													5	14					0	0	0.184627	0	0
TMTC1	83857	broad.mit.edu	37	12	29670372	29670372	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:29670372G>T	ENST00000256062.5	-	14	2306	c.1833C>A	c.(1831-1833)ctC>ctA	p.L611L	TMTC1_ENST00000551659.1_Silent_p.L781L|TMTC1_ENST00000539277.1_Silent_p.L719L|TMTC1_ENST00000552618.1_Silent_p.L743L|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	719						integral to membrane	binding	p.L611L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTGCCAAGCGGAGCTCCCTCT	0.517000													12	92					7.03913e-09	1.11877e-08	0.411799	1	0
ITGAD	3681	broad.mit.edu	37	16	31422734	31422734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:31422734C>A	ENST00000389202.2	+	14	1652	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	535					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L535M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGGACAAGCTGATAGACGT	0.637000													23	181					2.21704e-12	4.08247e-12	0.639603	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961404	73961404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:73961404C>A	ENST00000373468.1	-	3	3639	c.2988G>T	c.(2986-2988)atG>atT	p.M996I	KIAA2022_ENST00000055682.5_Missense_Mutation_p.M996I			Q5QGS0	K2022_HUMAN	KIAA2022	996					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.M996I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGTGGGGCCATTGAATCAA	0.438000													14	48					2.61681e-11	4.61531e-11	0.457914	1	0
SYT3	84258	broad.mit.edu	37	19	51135639	51135639	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:51135639C>A	ENST00000338916.4	-	2	1211	c.578G>T	c.(577-579)gGa>gTa	p.G193V	SYT3_ENST00000593901.1_Missense_Mutation_p.G193V|SYT3_ENST00000544769.1_Missense_Mutation_p.G193V|SYT3_ENST00000600079.1_Missense_Mutation_p.G193V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	193						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G193V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGAGCCTGCTCCCCCCTCAGA	0.637000													8	38					1.06961e-07	1.60827e-07	0.278610	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896252	151896252	+	RNA	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:151896252C>T	ENST00000361201.4	-	0	478					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CCACTCCATTCCTCAGGTTTT	0.522000													11	41					0	0	0.435327	0	0
GRM5	2915	broad.mit.edu	37	11	88300971	88300971	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:88300971A>T	ENST00000418177.2	-	8	2247	c.1880T>A	c.(1879-1881)cTg>cAg	p.L627Q	GRM5_ENST00000305447.4_Missense_Mutation_p.L627Q|GRM5_ENST00000393297.1_Missense_Mutation_p.L627Q|GRM5_ENST00000455756.2_Missense_Mutation_p.L627Q|GRM5_ENST00000305432.5_Missense_Mutation_p.L627Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	627					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	p.L627Q(2)		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)	TAAGTAGCCCAGGCAGATGCC	0.473000													6	26					0	0	0.278610	0	0
SNX18	112574	broad.mit.edu	37	5	53815085	53815085	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:53815085A>T	ENST00000343017.6	+	1	1497	c.1303A>T	c.(1303-1305)Acc>Tcc	p.T435S	SNX18_ENST00000326277.3_Missense_Mutation_p.T435S|SNX18_ENST00000381410.4_Missense_Mutation_p.T435S	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	435	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.T435S(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAAGTGCTTCACCAAGAAGAT	0.607000													4	35					0	0	0.150653	0	0
SPTA1	6708	broad.mit.edu	37	1	158592830	158592830	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:158592830C>A	ENST00000368148.3	-	43	6243	c.6063G>T	c.(6061-6063)ctG>ctT	p.L2021L	SPTA1_ENST00000368147.3_Silent_p.L2018L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2021					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	p.L2021L(1)		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)					CCGAGGCTTCCAGCAACTGTT	0.468000													55	261					1.46156e-29	3.19859e-29	0.870114	1	0
DMD	1756	broad.mit.edu	37	X	32503071	32503071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:32503071G>T	ENST00000357033.4	-	21	2974	c.2768C>A	c.(2767-2769)tCt>tAt	p.S923Y	DMD_ENST00000378677.2_Missense_Mutation_p.S919Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	923					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.S918Y(1)|p.S919Y(1)|p.S923Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCACATCAGAAAAGACTTG	0.388000													3	42					0.115264	0.118671	0.115264	1	0
PRELP	5549	broad.mit.edu	37	1	203453067	203453067	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:203453067A>G	ENST00000343110.2	+	2	882	c.755A>G	c.(754-756)aAc>aGc	p.N252S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	252					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.N252S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGGACAGTAACAAGATTGAG	0.532000													18	106					0	0	0.575678	0	0
PPM1E	22843	broad.mit.edu	37	17	57050271	57050271	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:57050271G>C	ENST00000308249.2	+	6	1324	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	408	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.V399L(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTCTGTCGGTTTCCAGAGC	0.433000													14	64					0	0	0.479597	0	0
ABCC5	10057	broad.mit.edu	37	3	183689508	183689508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:183689508C>A	ENST00000334444.6	-	11	1844	c.1604G>T	c.(1603-1605)cGc>cTc	p.R535L	ABCC5_ENST00000265586.6_Missense_Mutation_p.R535L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	535						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R535L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCTCAGTGCGCTGCAGCTG	0.582000													16	38					2.4624e-09	4.02063e-09	0.575678	1	0
SPTBN4	57731	broad.mit.edu	37	19	41063082	41063082	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:41063082G>A	ENST00000352632.3	+	26	5529	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1815T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A558T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A491T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1815T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1815T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1815					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A491T(1)|p.A1815T(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAACGAGGCCTGGGCTGA	0.632000													6	25					0	0	0.278610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427385	25427385	+	RNA	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:25427385C>A	ENST00000424208.1	+	0	182					NR_003305.1																						CCCAATGGCCCCAGGTCAGCG	0.597000													4	11					0.184627	0.186862	0.184627	1	0
CERKL	375298	broad.mit.edu	37	2	182412572	182412572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:182412572C>A	ENST00000410087.3	-	9	1236	c.1136G>T	c.(1135-1137)aGg>aTg	p.R379M	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R361M|CERKL_ENST00000374969.2_Missense_Mutation_p.R266M|CERKL_ENST00000374970.2_Missense_Mutation_p.R310M|CERKL_ENST00000339098.5_Missense_Mutation_p.R405M	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	405					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R405M(1)|p.R379M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCCTGTGCCCTCCTAAAAGA	0.393000													29	187					7.26314e-15	1.44571e-14	0.717897	1	0
OR5K3	403277	broad.mit.edu	37	3	98109906	98109906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:98109906C>A	ENST00000383695.1	+	1	397	c.397C>A	c.(397-399)Cac>Aac	p.H133N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H133N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTGCAGTACCACACCATGAT	0.468000													51	84					1.91693e-13	3.70961e-13	0.870114	1	0
HIPK1	204851	broad.mit.edu	37	1	114505013	114505013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:114505013G>C	ENST00000369558.1	+	9	2288	c.2056G>C	c.(2056-2058)Gca>Cca	p.A686P	HIPK1_ENST00000369559.4_Missense_Mutation_p.A686P|HIPK1_ENST00000369561.4_Missense_Mutation_p.A652P|HIPK1_ENST00000340480.4_Missense_Mutation_p.A312P|HIPK1_ENST00000426820.2_Missense_Mutation_p.A686P|HIPK1_ENST00000406344.1_Missense_Mutation_p.A292P|HIPK1_ENST00000369555.2_Missense_Mutation_p.A686P|HIPK1_ENST00000369553.1_Missense_Mutation_p.A292P|HIPK1_ENST00000369554.2_Missense_Mutation_p.A686P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A686P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACCCCAGGCACCAGCTGC	0.443000													13	48					0	0	0.411799	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177129	89177129	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:89177129G>T	ENST00000561129.2	+	1	175	c.45G>T	c.(43-45)gtG>gtT	p.V15V	TGIF2LX_ENST00000283891.5_Silent_p.V15V			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V15V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAAGCCCGGTGGAAAAAGACA	0.527000													4	27					0.184627	0.186862	0.184627	1	0
GSDMD	79792	broad.mit.edu	37	8	144641996	144641996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:144641996G>C	ENST00000526406.1	+	6	1150	c.267G>C	c.(265-267)caG>caC	p.Q89H	GSDMD_ENST00000262580.4_Missense_Mutation_p.Q89H|GSDMD_ENST00000533063.1_Missense_Mutation_p.Q137H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	89								p.Q89H(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGGATGGGCAGATACAGGGCA	0.642000													4	23					0	0	0.217242	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543134	133543134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:133543134G>T	ENST00000409261.1	-	14	1623	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P417H|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	417							protein binding	p.P417Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACTGATGGGGGTTCAAGTAA	0.408000													14	86					1.15088e-07	1.70591e-07	0.500413	1	0
PLBD2	196463	broad.mit.edu	37	12	113812724	113812724	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:113812724C>T	ENST00000280800.3	+	5	802	c.771C>T	c.(769-771)ctC>ctT	p.L257L	PLBD2_ENST00000547163.1_3'UTR|PLBD2_ENST00000545182.2_Silent_p.L257L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	257					lipid catabolic process	lysosomal lumen	hydrolase activity	p.L257L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGAGTGACCTCCTGGTTGCCC	0.577000													12	53					0	0	0.435327	0	0
SAMD9	54809	broad.mit.edu	37	7	92733294	92733294	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:92733294A>T	ENST00000379958.2	-	3	2386	c.2117T>A	c.(2116-2118)gTc>gAc	p.V706D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	706						cytoplasm		p.V706D(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCTTTTGACAAAAGGTGA	0.358000													56	145					0	0	0.870114	0	0
CCDC122	160857	broad.mit.edu	37	13	44411449	44411449	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:44411449G>T	ENST00000444614.3	-	7	1047	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	263								p.E264K(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTCTTAATTCGGCTGCAGTTT	0.383000													6	71					0.00116845	0.00134548	0.217242	1	0
KRT20	54474	broad.mit.edu	37	17	39034618	39034618	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:39034618C>A	ENST00000167588.3	-	6	960		c.e6-1			NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20						apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACTCTTTCTATGAGCACA	0.468000													7	61					0.0381472	0.0403685	0.278610	1	0
GPR55	9290	broad.mit.edu	37	2	231774831	231774831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:231774831G>T	ENST00000392040.1	-	2	1039	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	GPR55_ENST00000392039.2_Missense_Mutation_p.L283M	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	283					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.L283M(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AAAACATCCAGGCAGCAGTTG	0.507000													15	81					3.45872e-05	4.44844e-05	0.500413	1	0
GBA3	57733	broad.mit.edu	37	4	22749245	22749245	+	RNA	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:22749245T>C	ENST00000508166.1	+	0	715				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_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	p.W205R(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCCAGATCCTGGCACAGCTA	0.453000													26	115					0	0	0.693898	0	0
DYSF	8291	broad.mit.edu	37	2	71753445	71753445	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:71753445G>C	ENST00000258104.3	+	12	1426	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	DYSF_ENST00000409582.3_Silent_p.L414L|DYSF_ENST00000410041.1_Silent_p.L415L|DYSF_ENST00000409651.1_Silent_p.L415L|DYSF_ENST00000409366.1_Silent_p.L384L|DYSF_ENST00000394120.2_Silent_p.L384L|DYSF_ENST00000410020.3_Silent_p.L415L|DYSF_ENST00000429174.2_Silent_p.L383L|DYSF_ENST00000409762.1_Silent_p.L414L|DYSF_ENST00000413539.2_Silent_p.L414L|DYSF_ENST00000409744.1_Silent_p.L384L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	383	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L383L(1)|p.L415L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTTCTGCCTGAAGGTCTTCC	0.657000													28	151					0	0	0.729181	0	0
NRG3	10718	broad.mit.edu	37	10	84745264	84745264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:84745264C>A	ENST00000372142.2	+	11	1677	c.1403C>A	c.(1402-1404)aCa>aAa	p.T468K	NRG3_ENST00000404547.1_Missense_Mutation_p.T689K|NRG3_ENST00000404576.2_Missense_Mutation_p.T469K|NRG3_ENST00000537893.1_Missense_Mutation_p.T315K|NRG3_ENST00000372141.2_Missense_Mutation_p.T665K|NRG3_ENST00000545131.1_Missense_Mutation_p.T315K|NRG3_ENST00000556918.1_Missense_Mutation_p.T495K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	689					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T468K(1)|p.T665K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCGAAAACACAGCCTTTCTC	0.488000													8	47					0.000157383	0.000189041	0.278610	1	0
PDE3A	5139	broad.mit.edu	37	12	20522824	20522824	+	Silent	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:20522824A>T	ENST00000359062.3	+	1	646	c.606A>T	c.(604-606)acA>acT	p.T202T	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	202					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T202T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCGCCGCGACATGGCTGGTGC	0.652000													4	23					0	0	0.184627	0	0
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:130872806T>C	ENST00000357462.5	-	2	710	c.617A>G	c.(616-618)aAg>aGg	p.K206R	POTEF_ENST00000409914.2_Missense_Mutation_p.K206R|POTEF_ENST00000360967.5_Missense_Mutation_p.K206R|POTEF_ENST00000361163.4_Missense_Mutation_p.K206R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206						cell cortex	ATP binding	p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403000													10	80					0	0	0.479597	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98799743	98799743	+	Splice_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:98799743A>T	ENST00000453547.2	-	31	3574		c.e31+1		SLIT1_ENST00000371070.4_Splice_Site|SLIT1_ENST00000266058.4_Splice_Site														p.?(1)									TGAGCTACTCACAGTTCTGTG	0.642000													8	43					0	0	0.335167	0	0
MRC2	9902	broad.mit.edu	37	17	60754845	60754845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:60754845A>T	ENST00000303375.5	+	12	2452	c.2050A>T	c.(2050-2052)Aag>Tag	p.K684*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	684	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K684*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTATTGCTATAAGGTAGGGCA	0.642000													3	21					0	0	0.150653	0	0
VPS13A	23230	broad.mit.edu	37	9	79933209	79933209	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:79933209A>C	ENST00000360280.3	+	41	5275	c.5015A>C	c.(5014-5016)aAg>aCg	p.K1672T	VPS13A_ENST00000376634.4_Missense_Mutation_p.K1672T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.K1672T|VPS13A_ENST00000376636.3_Missense_Mutation_p.K1633T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1672					Golgi to endosome transport|protein transport	intracellular	protein binding	p.K1672T(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATACAACTAAGGAAACCATC	0.308000													16	87					0	0	0.539581	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027589	150027589	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:150027589A>G	ENST00000343855.4	+	1	652	c.96A>G	c.(94-96)acA>acG	p.T32T	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like									p.T32T(1)									AGGTTCACACACACTTTCAGG	0.642000													36	162					0	0	0.819951	0	0
ZNF778	197320	broad.mit.edu	37	16	89293777	89293777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:89293777G>T	ENST00000433976.2	+	6	1329	c.997G>T	c.(997-999)Gga>Tga	p.G333*	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G291*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G333*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AACAGACCCTGGACAGAAGCC	0.468000													15	91					6.72482e-11	1.15204e-10	0.479597	1	0
ZIK1	284307	broad.mit.edu	37	19	58101972	58101972	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:58101972A>G	ENST00000597850.1	+	4	1008	c.793A>G	c.(793-795)Agg>Ggg	p.R265G	ZIK1_ENST00000599456.1_Missense_Mutation_p.R210G|ZIK1_ENST00000536878.2_Missense_Mutation_p.R252G|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R265G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTGGAGAAAGGCCTTGGGA	0.468000													5	37					0	0	0.184627	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073661	60073661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:60073661G>T	ENST00000355131.3	+	7	801	c.578G>T	c.(577-579)tGt>tTt	p.C193F	MS4A4A_ENST00000337908.4_Missense_Mutation_p.C212F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.C159F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.C193F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	212						integral to membrane	receptor activity	p.C193F(1)|p.C212F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GTGCTCTGTTGTACCCCTGGT	0.453000													12	83					7.93312e-07	1.11651e-06	0.457914	1	0
ZNF292	23036	broad.mit.edu	37	6	87967002	87967002	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:87967002G>T	ENST00000369577.3	+	8	3698	c.3655G>T	c.(3655-3657)Gat>Tat	p.D1219Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.D1214Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1074Y(1)|p.D1219Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTTCTCAGGATAAAAATGA	0.398000													11	15					1.58986e-06	2.19328e-06	0.361761	1	0
XPO5	57510	broad.mit.edu	37	6	43538667	43538667	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:43538667T>A	ENST00000265351.7	-	4	575	c.365A>T	c.(364-366)gAa>gTa	p.E122V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	122					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.E122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTTGATCATTTCCACTACAAT	0.398000													43	97					0	0	0.847076	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:187712479G>T	ENST00000295131.2	-	2	248	c.209C>A	c.(208-210)cCg>cAg	p.P70Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348000													10	93					5.16669e-11	8.96131e-11	0.387290	1	0
TRUB1	142940	broad.mit.edu	37	10	116698036	116698036	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:116698036G>T	ENST00000298746.3	+	1	85	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	8					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.V8V(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGGCGGCGGTGGTGTCTTCGC	0.587000													3	27					6.4e-05	8.01135e-05	0.115264	1	0
SLC23A1	9963	broad.mit.edu	37	5	138713677	138713677	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:138713677G>T	ENST00000353963.3	-	12	1490	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SLC23A1_ENST00000348729.3_Silent_p.G480G	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	480					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.G484G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TATTGATGGCGCCAGGGTTGG	0.547000													3	13					6.4e-05	8.01135e-05	0.115264	1	0
C7orf62	219557	broad.mit.edu	37	7	88424136	88424136	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:88424136G>T	ENST00000297203.2	-	2	306	c.121C>A	c.(121-123)Cac>Aac	p.H41N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	41								p.H41N(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTTAGGTGTAGTCGTTGT	0.408000													34	133					1.836e-18	3.78054e-18	0.788014	1	0
CDK17	5128	broad.mit.edu	37	12	96707200	96707200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:96707200C>A	ENST00000261211.3	-	4	919	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	CDK17_ENST00000543119.2_Missense_Mutation_p.D106Y|CDK17_ENST00000542666.1_Missense_Mutation_p.D53Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	106							ATP binding|cyclin-dependent protein kinase activity	p.D106Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CTCTCACCATCTGATCCCATT	0.333000													4	44					0.00024832	0.00029488	0.150653	1	0
TBR1	10716	broad.mit.edu	37	2	162274296	162274296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:162274296G>T	ENST00000389554.3	+	2	1119	c.802G>T	c.(802-804)Gga>Tga	p.G268*		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G268*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAGGTTTCAAGGAGGCAAATG	0.413000													12	79					3.07112e-06	4.16794e-06	0.387290	1	0
CLCA1	1179	broad.mit.edu	37	1	86951077	86951077	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:86951077C>A	ENST00000234701.3	+	7	1138	c.787C>A	c.(787-789)Caa>Aaa	p.Q263K	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q263K			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	263					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.Q263K(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCCAAACAAGCAAAATCAAAA	0.373000													17	70					1.56452e-12	2.89368e-12	0.557998	1	0
TRIP13	9319	broad.mit.edu	37	5	908506	908506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:908506G>T	ENST00000166345.3	+	9	1152	c.796G>T	c.(796-798)Gcg>Tcg	p.A266S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.A266S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGCCTGCAGGGCGGGCACCGA	0.562000													8	44					1.12685e-05	1.49531e-05	0.307466	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362786	19362786	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:19362786G>C	ENST00000454498.2	-	4	1573	c.560C>G	c.(559-561)gCc>gGc	p.A187G	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A187G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	187					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.A187G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGTCTCCAAGGCTGATTCAAT	0.542000													6	49					0	0	0.248553	0	0
CDH10	1008	broad.mit.edu	37	5	24509704	24509704	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:24509704C>A	ENST00000264463.4	-	7	1734	c.1227G>T	c.(1225-1227)agG>agT	p.R409S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	409	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R409R(1)|p.R409S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATCTGGGTCCCTTGCCATTA	0.453000										HNSCC(23;0.051)			15	63					6.49762e-13	1.22896e-12	0.539581	1	0
IL1F10	84639	broad.mit.edu	37	2	113832335	113832335	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:113832335C>G	ENST00000393197.2	+	3	575	c.154C>G	c.(154-156)Cgc>Ggc	p.R52G	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52G|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R52G(1)		endometrium(1)|lung(6)|ovary(1)	8						AGGCTTGGCCCGCACCAAGGT	0.582000													8	99					0	0	0.608945	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918928	12918928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:12918928G>C	ENST00000240189.2	+	2	151	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	22								p.A22P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGACCAGGCCTTGTCCAT	0.567000													11	86					0	0	0.387290	0	0
IGSF1	3547	broad.mit.edu	37	X	130409975	130409975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:130409975C>A	ENST00000370904.1	-	21	3739	c.2829G>T	c.(2827-2829)agG>agT	p.R943S	IGSF1_ENST00000370903.3_Missense_Mutation_p.R957S|IGSF1_ENST00000361420.3_Missense_Mutation_p.R952S|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Missense_Mutation_p.R943S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	952	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.R952S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATATGACCCCCTGTTTGACA	0.512000													11	53					3.86212e-05	4.89202e-05	0.361761	1	0
ZNF551	90233	broad.mit.edu	37	19	58196642	58196642	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:58196642G>T	ENST00000282296.5	+	2	279	c.94G>T	c.(94-96)Gag>Tag	p.E32*	ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Nonsense_Mutation_p.E16*|ZNF551_ENST00000356715.4_Nonsense_Mutation_p.E16*	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E16*(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGACCTTTGAGGATGTGGC	0.493000													19	101					1.67942e-08	2.59998e-08	0.539581	1	0
CSMD3	114788	broad.mit.edu	37	8	113299383	113299383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:113299383C>A	ENST00000297405.5	-	58	9485	c.9241G>T	c.(9241-9243)Gct>Tct	p.A3081S	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2912S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3041S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3011S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3081	Sushi 22.					integral to membrane|plasma membrane		p.A3041S(1)|p.A3081S(1)		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						GTATCACAAGCATAACGTACA	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	86					4.26978e-12	7.75986e-12	0.654019	1	0
ZNF534	147658	broad.mit.edu	37	19	52941035	52941035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:52941035C>T	ENST00000332323.6	+	4	422	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q108*|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q121*(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACTTAAAAATCAACATGGATT	0.353000													4	34					0	0	0.184627	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41103887	41103887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:41103887C>A	ENST00000421990.2	-	16	1900	c.1555G>T	c.(1555-1557)Ggc>Tgc	p.G519C	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.G519C|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.G458C|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.G428C|AARSD1_ENST00000427569.2_Missense_Mutation_p.G345C	NM_001136042.2	NP_001129514.2												p.G458C(1)									TTCTCATCGCCCACAGTTAAG	0.522000													7	28					0.00307968	0.00348863	0.278610	1	0
LRP1B	53353	broad.mit.edu	37	2	141533673	141533673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:141533673G>T	ENST00000389484.3	-	33	6465	c.5494C>A	c.(5494-5496)Cag>Aag	p.Q1832K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1832					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q1832K(1)		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)		TTACCTTGCTGTGCTTCTTTA	0.388000										TSP Lung(27;0.18)			11	98					4.68919e-08	7.15358e-08	0.361761	1	0
KCNA2	3737	broad.mit.edu	37	1	111146095	111146095	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:111146095T>G	ENST00000485317.1	-	3	1983	c.1310A>C	c.(1309-1311)aAg>aCg	p.K437T	KCNA2_ENST00000440270.1_Missense_Mutation_p.K437T|KCNA2_ENST00000316361.4_Missense_Mutation_p.K437T|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	437						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.K437T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGATGGGATCTTTGGACAGCT	0.463000													27	106					0	0	0.706142	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185358	32185358	+	Missense_Mutation	SNP	C	C	A	rs140820436	by1000genomes	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr21:32185358C>A	ENST00000329621.4	-	1	212	c.181G>T	c.(181-183)Gct>Tct	p.A61S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	61						intermediate filament		p.A61S(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CAGTAGAGAGCAAATGGCGAG	0.562000													17	52					7.07596e-05	8.82911e-05	0.539581	1	0
FAM171B	165215	broad.mit.edu	37	2	187615876	187615876	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:187615876A>T	ENST00000304698.5	+	5	943	c.740A>T	c.(739-741)gAa>gTa	p.E247V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	247						integral to membrane	DNA binding	p.E247V(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAAAACATTGAATTGACTCCT	0.318000													18	126					0	0	0.624587	0	0
HEPH	9843	broad.mit.edu	37	X	65474945	65474945	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:65474945G>T	ENST00000519389.1	+	16	2973	c.2794G>T	c.(2794-2796)Gtt>Ttt	p.V932F	HEPH_ENST00000336279.5_Missense_Mutation_p.V611F|HEPH_ENST00000419594.1_Missense_Mutation_p.V689F|HEPH_ENST00000343002.2_Missense_Mutation_p.V878F|HEPH_ENST00000441993.2_Missense_Mutation_p.V881F|HEPH_ENST00000374727.3_Missense_Mutation_p.V881F			Q9BQS7	HEPH_HUMAN	hephaestin	878	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.V878F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTGCTTGTGTTTCCTGGAT	0.483000													6	42					2.0095e-06	2.754e-06	0.248553	1	0
PXDNL	137902	broad.mit.edu	37	8	52325734	52325734	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:52325734G>C	ENST00000356297.4	-	15	1980	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	PXDNL_ENST00000543296.1_Missense_Mutation_p.S627C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	627					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S627C(1)		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)				TCTTCGTGTGGAGTTAATTGC	0.348000													13	42					0	0	0.479597	0	0
OR2L3	391192	broad.mit.edu	37	1	248224588	248224588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:248224588C>A	ENST00000359959.3	+	1	605	c.605C>A	c.(604-606)aCc>aAc	p.T202N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTTGAGCACCACCATCTTT	0.488000													14	108					1.5842e-08	2.46169e-08	0.435327	1	0
PDE11A	50940	broad.mit.edu	37	2	178528660	178528660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:178528660G>T	ENST00000286063.5	-	19	2897	c.2580C>A	c.(2578-2580)aaC>aaA	p.N860K	PDE11A_ENST00000409504.1_Missense_Mutation_p.N502K|PDE11A_ENST00000389683.3_Missense_Mutation_p.N416K|PDE11A_ENST00000358450.4_Missense_Mutation_p.N610K|PDE11A_ENST00000450799.2_Missense_Mutation_p.N51K|PDE11A_ENST00000449286.2_Missense_Mutation_p.N502K	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	860	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.N610K(1)|p.N860K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATCCTTCCGGTTCCGATCAA	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				13	48					1.49906e-05	1.95205e-05	0.457914	1	0
POSTN	10631	broad.mit.edu	37	13	38143960	38143960	+	Splice_Site	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:38143960T>C	ENST00000379747.4	-	20	2387		c.e20-2		POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTCAGGACCTATGAGAAGGA	0.378000													21	76					0	0	0.639603	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355074	77355074	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:77355074C>A	ENST00000282849.5	-	15	2607	c.2189G>T	c.(2188-2190)gGc>gTc	p.G730V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	730	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G730V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTTTAGAGCCTAGTTCATG	0.388000													14	104					6.31663e-08	9.60127e-08	0.479597	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543133	133543133	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:133543133G>T	ENST00000409261.1	-	14	1624	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	NCKAP5_ENST00000317721.6_Silent_p.P417P|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	417							protein binding	p.P417Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCACTGATGGGGGTTCAAGTA	0.413000													14	85					1.15088e-07	1.70591e-07	0.500413	1	0
KHDC3L	154288	broad.mit.edu	37	6	74073549	74073549	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:74073549G>T	ENST00000370367.3	+	3	673	c.620G>T	c.(619-621)cGc>cTc	p.R207L		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.R207L(1)									CAGCGGTTTCGCGAGGATGCC	0.622000													8	29					3.09899e-07	4.54518e-07	0.307466	1	0
OLFM1	10439	broad.mit.edu	37	9	138011775	138011775	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:138011775G>T	ENST00000252854.4	+	6	1342	c.1155G>T	c.(1153-1155)ggG>ggT	p.G385G	OLFM1_ENST00000371796.3_Silent_p.G376G|OLFM1_ENST00000371793.3_Silent_p.G403G	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	403	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCAGCGCCGGGGAGGCCTTCA	0.602000													3	34					0.115264	0.118671	0.115264	1	0
KCNK2	3776	broad.mit.edu	37	1	215408346	215408346	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:215408346G>T	ENST00000444842.2	+	7	1289	c.1139G>T	c.(1138-1140)tGt>tTt	p.C380F	KCNK2_ENST00000391894.2_Missense_Mutation_p.C365F|KCNK2_ENST00000391895.2_Missense_Mutation_p.C376F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	380	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity	p.C380F(1)|p.C365F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTGACTCCTTGTAGGAGGACC	0.532000													7	42					8.12818e-05	9.93445e-05	0.248553	1	0
DNAH9	1770	broad.mit.edu	37	17	11592948	11592948	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:11592948C>A	ENST00000262442.3	+	20	3877	c.3809C>A	c.(3808-3810)tCc>tAc	p.S1270Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1270Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	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	p.S1270*(1)		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)		CAGATGGAATCCACTATGGCC	0.488000													13	72					1.5842e-08	2.46169e-08	0.435327	1	0
BRINP1	1620	broad.mit.edu	37	9	122075577	122075577	+	Silent	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:122075577T>A	ENST00000265922.3	-	2	518	c.57A>T	c.(55-57)tcA>tcT	p.S19S	DBC1_ENST00000373964.2_Silent_p.S19S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		19					cell cycle arrest|cell death	cytoplasm	protein binding	p.S19S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGGCTGCACTGAGATACGGC	0.512000													23	68					0	0	0.654019	0	0
SERPING1	710	broad.mit.edu	37	11	57381888	57381888	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:57381888T>A	ENST00000403558.1	+	7	1832	c.1466T>A	c.(1465-1467)gTg>gAg	p.V489E	SERPING1_ENST00000278407.4_Missense_Mutation_p.V446E|SERPING1_ENST00000378323.4_Missense_Mutation_p.V451E|SERPING1_ENST00000378324.2_Missense_Mutation_p.V394E|SERPING1_ENST00000340687.6_Missense_Mutation_p.V409E	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	446			P -> R (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.V446E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CACCAGACAGTGCTGGAACTG	0.557000													9	49					0	0	0.307466	0	0
FBXL13	222235	broad.mit.edu	37	7	102667916	102667916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:102667916T>C	ENST00000393772.2	-	5	733	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E	FBXL13_ENST00000436908.1_Missense_Mutation_p.K103E|FBXL13_ENST00000455112.2_Missense_Mutation_p.K103E|FBXL13_ENST00000456695.1_Missense_Mutation_p.K103E|FBXL13_ENST00000313221.4_Missense_Mutation_p.K103E|FBXL13_ENST00000379306.3_Missense_Mutation_p.K103E|FBXL13_ENST00000379305.3_Missense_Mutation_p.K103E|FBXL13_ENST00000379308.3_Missense_Mutation_p.K103E|FBXL13_ENST00000471074.1_5'UTR			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	103								p.K103E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTTTCTTTTTACTCTTATGT	0.333000													13	74					0	0	0.479597	0	0
PTPRA	5786	broad.mit.edu	37	20	3018722	3018722	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:3018722C>T	ENST00000216877.6	+	23	2725	c.2325C>T	c.(2323-2325)tgC>tgT	p.C775C	PTPRA_ENST00000356147.3_Silent_p.C775C|PTPRA_ENST00000380393.3_Silent_p.C784C|PTPRA_ENST00000318266.5_Silent_p.C775C|PTPRA_ENST00000425918.2_Silent_p.C795C|PTPRA_ENST00000358719.4_Silent_p.C640C|PTPRA_ENST00000399903.2_Silent_p.C784C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	784	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.C784C(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGAGTTCTGCTACAAGGTGG	0.428000													15	71					0	0	0.520397	0	0
FTMT	94033	broad.mit.edu	37	5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731000													5	10					0	0	0.217242	0	0
DAXX	1616	broad.mit.edu	37	6	33287401	33287401	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:33287401G>A	ENST00000374542.5	-	6	1900	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.L566F|DAXX_ENST00000414083.2_Missense_Mutation_p.L491F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	566	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.L566F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGCTCAAAGAGCTGAGACACA	0.542000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								31	65					0	0	0.729181	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950105	123950105	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:123950105C>G	ENST00000526639.2	+	2	597	c.18C>G	c.(16-18)ccC>ccG	p.P6P	SNRNP35_ENST00000350887.5_Silent_p.P6P|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Silent_p.P11P	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	6					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	p.P6P(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ATTGGATGCCCATCGCCAAGG	0.517000													9	37					0	0	0.361761	0	0
OR4N4	283694	broad.mit.edu	37	15	22383396	22383396	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:22383396T>A	ENST00000328795.4	+	1	1015	c.924T>A	c.(922-924)tgT>tgA	p.C308*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C308*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGTAGTCTGTCAAGTGGATT	0.373000													12	62					0	0	0.387290	0	0
SCARA5	286133	broad.mit.edu	37	8	27737266	27737266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:27737266T>C	ENST00000354914.3	-	8	1656	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	SCARA5_ENST00000380385.2_Missense_Mutation_p.M166V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	391					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.M391V(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CGGATCATCATCGGGGCCTCC	0.657000													5	14					0	0	0.217242	0	0
PCLO	27445	broad.mit.edu	37	7	82583854	82583854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:82583854C>G	ENST00000423517.2	-	5	6752	c.6415G>C	c.(6415-6417)Gaa>Caa	p.E2139Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E2139Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2070					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2139Q(2)|p.E2070Q(1)		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						TCAATTTCTTCTGTTGAAAAA	0.393000													11	44					0	0	0.387290	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309479	89309479	+	RNA	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:89309479A>T	ENST00000493819.1	-	0	408																											ACACTGTGGGAGGGTAACTAT	0.512000													25	94					0	0	0.681144	0	0
SPRR3	6707	broad.mit.edu	37	1	152975939	152975939	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:152975939A>T	ENST00000331860.3	+	3	593	c.443A>T	c.(442-444)aAg>aTg	p.K148M	SPRR3_ENST00000542696.1_Missense_Mutation_p.K140M|SPRR3_ENST00000295367.4_Missense_Mutation_p.K148M	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	148	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.K148M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTACACAAAGCTACCAGAG	0.517000													8	21					0	0	0.278610	0	0
AADACL2	344752	broad.mit.edu	37	3	151474791	151474791	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:151474791T>C	ENST00000356517.3	+	5	724	c.615T>C	c.(613-615)gaT>gaC	p.D205D	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	205						extracellular region|integral to membrane	carboxylesterase activity	p.D183D(1)|p.D205D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGCAGAATGATGCTGAAATAA	0.313000													28	40					0	0	0.740014	0	0
DHX9	1660	broad.mit.edu	37	1	182827319	182827319	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:182827319C>T	ENST00000367549.3	+	8	864	c.754C>T	c.(754-756)Cat>Tat	p.H252Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	252	DRBM 2.|Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.H252Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACAACTGTACCATCTTGGAGT	0.418000													16	84					0	0	0.520397	0	0
LRRC46	90506	broad.mit.edu	37	17	45913760	45913760	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:45913760C>A	ENST00000269025.4	+	7	877	c.514C>A	c.(514-516)Cgc>Agc	p.R172S		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	172	LRRCT.							p.R172S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGTGGTGGAGCGCTGGATTTC	0.602000													9	29					0.00621372	0.00687125	0.335167	1	0
UBE2D2	7322	broad.mit.edu	37	5	138994325	138994325	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:138994325A>G	ENST00000253815.2	+	5	954	c.77A>G	c.(76-78)cAt>cGt	p.H26R	UBE2D2_ENST00000511725.1_Missense_Mutation_p.H26R|UBE2D2_ENST00000505548.1_Missense_Mutation_p.H26R|UBE2D2_ENST00000398733.3_Missense_Mutation_p.H55R	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	55					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	p.H55R(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGACAATTCATTTCCCAACA	0.313000													16	56					0	0	0.557998	0	0
PTPRD	5789	broad.mit.edu	37	9	8465644	8465644	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:8465644C>G	ENST00000381196.4	-	29	4079	c.3536G>C	c.(3535-3537)aGc>aCc	p.S1179T	PTPRD_ENST00000486161.1_Missense_Mutation_p.S768T|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1179T|PTPRD_ENST00000355233.5_Missense_Mutation_p.S768T|PTPRD_ENST00000397606.3_Missense_Mutation_p.S758T|PTPRD_ENST00000397611.3_Missense_Mutation_p.S765T|PTPRD_ENST00000397617.3_Missense_Mutation_p.S758T|PTPRD_ENST00000540109.1_Missense_Mutation_p.S1179T|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1166T|PTPRD_ENST00000537002.1_Missense_Mutation_p.S765T|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1157T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1179					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1179T(2)|p.S768T(1)|p.S650T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAACGGATGCTTCTGCGCTT	0.398000										TSP Lung(15;0.13)			9	79					0	0	0.411799	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163799	32163799	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:32163799G>T	ENST00000564145.1	-	0	35																											GCAAAGCTGTGGGTGATGGAG	0.527000													4	56					0.0215528	0.0229823	0.217242	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735507	55735507	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:55735507G>T	ENST00000312345.2	-	1	483	c.433C>A	c.(433-435)Cct>Act	p.P145T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P145T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTACTACAGGAATTGTGATG	0.418000													9	54					1.12685e-05	1.49531e-05	0.307466	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89246973	89246973	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:89246973G>T	ENST00000496168.1	-	0	377																											CAGGAGCTTAGGGGCTTTCCC	0.522000													14	50					1.3612e-06	1.89661e-06	0.479597	1	0
SLIT1	6585	broad.mit.edu	37	10	98778813	98778813	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:98778813G>T	ENST00000266058.4	-	27	3043	c.2798C>A	c.(2797-2799)cCg>cAg	p.P933Q	SLIT1_ENST00000371070.4_Missense_Mutation_p.P933Q|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	933	EGF-like 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.P933Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCTGGCACGGACTGGACAA	0.652000													5	21					1.23904e-05	1.6185e-05	0.184627	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597526	136597526	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:136597526T>C	ENST00000531224.1	-	5	1389	c.1137A>G	c.(1135-1137)gaA>gaG	p.E379E	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.E379E|BCLAF1_ENST00000392348.2_Silent_p.E377E|BCLAF1_ENST00000353331.4_Silent_p.E377E|BCLAF1_ENST00000527759.1_Silent_p.E377E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	379					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E379E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATCTAGAGCTTCCTGATCTT	0.428000													37	472					0	0	0.819951	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300080	23300080	+	RNA	SNP	T	T	C	rs28482434	by1000genomes	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:23300080T>C	ENST00000560464.1	-	0	4207																											TGCTGCACGTTGACAGGCGTG	0.612000													5	23					0	0	0.184627	0	0
USH1C	10083	broad.mit.edu	37	11	17517185	17517185	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:17517185C>A	ENST00000005226.7	-	26	2585	c.2586G>T	c.(2584-2586)ccG>ccT	p.P862P	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.P862P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTTTCGGACCGGTTGGGGGC	0.582000													24	120					4.26978e-12	7.75986e-12	0.654019	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74876920	74876920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:74876920T>A	ENST00000289575.5	+	4	769	c.374T>A	c.(373-375)gTg>gAg	p.V125E	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V103E|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.V9E|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.V9E|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V9E|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	125					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.V125E(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCTATCCTTGTGGCCCTGGCG	0.592000													25	113					0	0	0.667858	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821419	12821419	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:12821419G>T	ENST00000319264.3	+	2	1042	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	119								p.R116L(1)									AGGCTCATGCGCCAGTTGCTT	0.483000													28	145					4.87955e-14	9.53109e-14	0.693898	1	0
C18orf25	147339	broad.mit.edu	37	18	43796479	43796479	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:43796479G>T	ENST00000282059.6	+	2	1007	c.633G>T	c.(631-633)ctG>ctT	p.L211L	C18orf25_ENST00000321319.6_Silent_p.L211L	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	211								p.L211L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATAGTGACCTGACTTGTGACT	0.478000													6	38					3.59834e-05	4.57175e-05	0.217242	1	0
NPAP1	23742	broad.mit.edu	37	15	24923779	24923779	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:24923779C>G	ENST00000329468.2	+	1	3239	c.2765C>G	c.(2764-2766)cCa>cGa	p.P922R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P922R(1)									CCAGCAACCCCAGCACCAGTT	0.468000													8	104					0	0	0.278610	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	61					0	0	0.217242	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661496	21661496	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:21661496G>T	ENST00000229314.5	+	3	405		c.e3+1		GOLT1B_ENST00000542038.1_Splice_Site|GOLT1B_ENST00000540141.1_Splice_Site|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B						positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	p.?(1)		large_intestine(2)|lung(3)	5						TCTTGTTCAGGTAAGGCATAT	0.353000													12	86					6.40141e-05	8.01135e-05	0.387290	1	0
IL22	50616	broad.mit.edu	37	12	68647059	68647059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:68647059A>G	ENST00000538666.1	-	2	240	c.170T>C	c.(169-171)tTc>tCc	p.F57S	IL22_ENST00000328087.4_Missense_Mutation_p.F57S			Q9GZX6	IL22_HUMAN	interleukin 22	57					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	p.F57S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		AGCCAGCATGAAGGTGCGGTT	0.493000													5	42					0	0	0.184627	0	0
TUBB8	347688	broad.mit.edu	37	10	93408	93408	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:93408G>T	ENST00000447903.2	-	4	1023	c.708C>A	c.(706-708)ggC>ggA	p.G236G	TUBB8_ENST00000309812.4_Silent_p.G308G			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	308					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.G308G(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTAGGTAGCGGCCGTGACGGG	0.552000													31	94					6.68952e-21	1.40514e-20	0.864702	1	0
PADI2	11240	broad.mit.edu	37	1	17410262	17410262	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:17410262C>A	ENST00000375486.4	-	9	1072	c.1009G>T	c.(1009-1011)Gtc>Ttc	p.V337F	PADI2_ENST00000444885.2_Missense_Mutation_p.V221F|PADI2_ENST00000375481.1_Missense_Mutation_p.V337F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	337					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.V337F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGGAAGCAGACCTTCAGCTCA	0.532000													10	80					7.03913e-09	1.11877e-08	0.411799	1	0
PNPLA1	285848	broad.mit.edu	37	6	36274107	36274107	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:36274107G>T	ENST00000394571.2	+	7	1423	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	PNPLA1_ENST00000312917.5_Missense_Mutation_p.V389L|PNPLA1_ENST00000388715.3_Missense_Mutation_p.V380L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	475					lipid catabolic process		hydrolase activity	p.V475L(1)|p.V380L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAAGCGCCGTGCCTCTGGT	0.478000													28	120					1.39649e-27	2.9935e-27	0.760397	1	0
PLXNA4	91584	broad.mit.edu	37	7	132169704	132169704	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:132169704C>A	ENST00000378539.5	-	5	1816	c.1440G>T	c.(1438-1440)ggG>ggT	p.G480G	PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane		p.G480G(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAATGTTCGCCCCAGGTGGGT	0.483000													28	61					2.81731e-10	4.74854e-10	0.750413	1	0
MAGEC3	139081	broad.mit.edu	37	X	140926218	140926218	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:140926218G>T	ENST00000298296.1	+	1	117	c.117G>T	c.(115-117)caG>caT	p.Q39H		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	39								p.Q39H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCACCTCAGCCCCAGGTGT	0.537000													25	93					1.26454e-06	1.77375e-06	0.693898	1	0
PLCB4	5332	broad.mit.edu	37	20	9459613	9459613	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:9459613C>A	ENST00000378501.2	+	36	3557	c.3542C>A	c.(3541-3543)cCg>cAg	p.P1181Q	PLCB4_ENST00000378493.1_Missense_Mutation_p.R1169S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.P1181Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.R1169S|PLCB4_ENST00000378473.3_Missense_Mutation_p.R1181S|PLCB4_ENST00000414679.2_Missense_Mutation_p.R1181S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.P1181Q(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGAGATGGACCGCAGACCAGC	0.443000													5	21					0.0215528	0.0229823	0.217242	1	0
RABGGTB	5876	broad.mit.edu	37	1	76253183	76253183	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:76253183G>T	ENST00000319942.3	+	2	76	c.3_splice	c.e2-1	p.G2_splice	RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Splice_Site_p.G2_splice|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	2					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	p.G2V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTTTGAAAGGGCACTCCACAG	0.378000													25	69					6.32553e-13	1.21288e-12	0.681144	1	0
KLRC3	3823	broad.mit.edu	37	12	10568380	10568380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:10568380C>A	ENST00000396439.2	-	6	645	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	NKG2-E_ENST00000539033.1_Missense_Mutation_p.D201Y|KLRC3_ENST00000381903.2_Missense_Mutation_p.D201Y|KLRC3_ENST00000381904.2_Missense_Mutation_p.D201Y	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.D201Y(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCATGATCTGAGTCTTTT	0.348000													7	55					0.0293803	0.03117	0.248553	1	0
PTPRO	5800	broad.mit.edu	37	12	15747894	15747894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:15747894G>T	ENST00000281171.4	+	26	3900	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PTPRO_ENST00000348962.2_Missense_Mutation_p.Q1162H|PTPRO_ENST00000544244.1_Missense_Mutation_p.Q351H|PTPRO_ENST00000442921.2_Missense_Mutation_p.Q379H|PTPRO_ENST00000542557.1_Missense_Mutation_p.Q351H|PTPRO_ENST00000445537.2_Missense_Mutation_p.Q379H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1190	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1190H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATCCATCAGTGTGTGCAAC	0.373000													9	64					0.0581538	0.060923	0.335167	1	0
SPHK1	8877	broad.mit.edu	37	17	74383634	74383634	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:74383634C>G	ENST00000545180.1	+	8	1931	c.1122C>G	c.(1120-1122)ccC>ccG	p.P374P	SPHK1_ENST00000392496.3_Silent_p.P374P|SPHK1_ENST00000592299.1_Silent_p.P374P|SPHK1_ENST00000323374.4_Silent_p.P460P|SPHK1_ENST00000590959.1_Silent_p.P388P			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	374					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	p.P460P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GCTGGAAGCCCCAGCAGATGC	0.632000													5	56					0	0	0.217242	0	0
POT1	25913	broad.mit.edu	37	7	124510993	124510993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:124510993C>A	ENST00000357628.3	-	7	825	c.227G>T	c.(226-228)gGa>gTa	p.G76V	POT1_ENST00000393329.1_Intron	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	76					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.G76V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AACAATATCTCCATTTTTATA	0.333000													14	89					2.61681e-11	4.61531e-11	0.457914	1	0
ANO3	63982	broad.mit.edu	37	11	26669345	26669345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:26669345C>A	ENST00000256737.3	+	24	3370	c.2518C>A	c.(2518-2520)Cgt>Agt	p.R840S	ANO3_ENST00000531568.1_Missense_Mutation_p.R694S|ANO3_ENST00000537978.1_Missense_Mutation_p.R824S|ANO3_ENST00000525139.1_Missense_Mutation_p.R824S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	840						chloride channel complex	chloride channel activity	p.R840S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTACATCCCACGTTTTGTTTA	0.348000													13	61					0.00010058	0.00012116	0.411799	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42107526	42107526	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:42107526G>T	ENST00000457542.2	+	11	1526	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D420Y|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D297Y|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D414Y	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	420								p.D414Y(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCTCCTCAGACAACACCAT	0.597000													9	34					1.76689e-08	2.72532e-08	0.335167	1	0
KCNU1	157855	broad.mit.edu	37	8	36663793	36663793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:36663793G>T	ENST00000399881.3	+	5	512	c.475G>T	c.(475-477)Gca>Tca	p.A159S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	159						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.A159S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATAGTTTATGGCAGCTGATGA	0.338000													5	20					0.000602214	0.000705114	0.184627	1	0
COL22A1	169044	broad.mit.edu	37	8	139609156	139609156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:139609156G>T	ENST00000303045.6	-	62	4869	c.4423C>A	c.(4423-4425)Cag>Aag	p.Q1475K	COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1455K|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1475	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.Q1475K(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTCAAGCTGCTTCCCCAGC	0.507000										HNSCC(7;0.00092)			68	183					5.41795e-27	1.15546e-26	0.870114	1	0
OR52E2	119678	broad.mit.edu	37	11	5080580	5080580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5080580C>A	ENST00000321522.2	-	1	277	c.278G>T	c.(277-279)gGg>gTg	p.G93V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G93V(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAAGATGATCCCTCTGAGGTT	0.483000													6	12					3.59834e-05	4.57175e-05	0.217242	1	0
UBXN7	26043	broad.mit.edu	37	3	196089416	196089416	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:196089416C>A	ENST00000296328.4	-	9	1051	c.977G>T	c.(976-978)aGt>aTt	p.S326I	UBXN7_ENST00000428095.1_Missense_Mutation_p.S164I|UBXN7_ENST00000535858.1_Missense_Mutation_p.S178I	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	326							protein binding	p.S326I(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAACTCCTCACTGCCAGAAAA	0.428000													47	104					2.52991e-16	5.15854e-16	0.870114	1	0
CCDC108	255101	broad.mit.edu	37	2	219890775	219890775	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:219890775T>A	ENST00000341552.5	-	14	2401	c.2318A>T	c.(2317-2319)cAc>cTc	p.H773L	CCDC108_ENST00000453220.1_Missense_Mutation_p.H773L|CCDC108_ENST00000441968.1_Missense_Mutation_p.H773L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	773						integral to membrane	structural molecule activity	p.H773L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGGGGATGTGGTGCTCAAA	0.592000													6	45					0	0	0.278610	0	0
WDR96	80217	broad.mit.edu	37	10	105952008	105952008	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:105952008A>G	ENST00000357060.3	-	12	1610	c.1495T>C	c.(1495-1497)Ttt>Ctt	p.F499L	WDR96_ENST00000428666.1_Missense_Mutation_p.F500L|WDR96_ENST00000278064.2_Missense_Mutation_p.F430L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	499								p.F499L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGATAATAAAGACTTTTCCT	0.318000													10	84					0	0	0.500413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444453	25444453	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:25444453G>T	ENST00000424208.1	+	0	1726				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AATGGACCCAGGCCAGTGGCC	0.592000													5	25					1.23904e-05	1.6185e-05	0.184627	1	0
CCDC122	160857	broad.mit.edu	37	13	44411448	44411448	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:44411448C>T	ENST00000444614.3	-	7	1048	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	264								p.E264K(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTTCTTAATTCGGCTGCAGTT	0.383000													6	69					0	0	0.217242	0	0
CDK8	1024	broad.mit.edu	37	13	26974649	26974649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:26974649G>T	ENST00000381527.3	+	10	1496	c.993G>T	c.(991-993)caG>caT	p.Q331H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	331	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.Q331H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGGCTATGCAGGACCCCTATT	0.428000													20	123					7.45023e-12	1.33656e-11	0.592651	1	0
DHX32	55760	broad.mit.edu	37	10	127530320	127530320	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:127530320A>C	ENST00000284690.3	-	7	2025	c.1535T>G	c.(1534-1536)aTg>aGg	p.M512R	BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_3'UTR|DHX32_ENST00000368721.1_Missense_Mutation_p.M136R|BCCIP_ENST00000429863.2_3'UTR|DHX32_ENST00000284688.6_Missense_Mutation_p.M431R	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	512						mitochondrion|nucleus	ATP binding|helicase activity	p.M512R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACCTGTTACCATGGCTGCGAT	0.378000													11	69					0	0	0.387290	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389498	140389498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:140389498C>T	ENST00000406427.1	-	19	2450	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	PNPLA7_ENST00000277531.4_Missense_Mutation_p.R680H|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R286H	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	680					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R680H(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGTACCTGCGCTTGATGGA	0.657000													11	41					0	0	0.361761	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417793	25417793	+	RNA	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:25417793G>A	ENST00000549301.1	+	0	503				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA																							GGTCGATGATGAGAAGCTTCT	0.517000													9	121					0	0	0.361761	0	0
SALL1	6299	broad.mit.edu	37	16	51173276	51173276	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:51173276G>T	ENST00000440970.1	-	2	2997	c.2566C>A	c.(2566-2568)Cca>Aca	p.P856T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P953T|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	953					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P953T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGCTTGGGACCGCTCTC	0.512000													9	21					0.0581538	0.060923	0.335167	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124244	142124244	+	RNA	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:142124244G>A	ENST00000390376.2	-	0	233																											AGCCATTGGGGACTTCTTTGT	0.502000													28	168					0	0	0.693898	0	0
OR1J1	347168	broad.mit.edu	37	9	125239270	125239270	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:125239270A>G	ENST00000259357.2	-	1	965	c.936T>C	c.(934-936)gcT>gcC	p.A312A		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						tacaggcatgagccactgcgc	0.502000													3	74					0	0	0.115264	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072004	34072004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:34072004C>A	ENST00000254466.6	-	6	2539	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.E822*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	838					cell cycle arrest	cytoplasm|cytoskeleton		p.E838*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		tcctcctcctcctcACCTACT	0.627000													9	32					1.58986e-06	2.19328e-06	0.361761	1	0
MUC16	94025	broad.mit.edu	37	19	9090511	9090511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:9090511G>T	ENST00000397910.4	-	1	1507	c.1304C>A	c.(1303-1305)aCa>aAa	p.T435K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	435	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T435K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAGATGTATTCAAAGT	0.483000													20	73					1.56452e-12	2.89368e-12	0.557998	1	0
BRSK1	84446	broad.mit.edu	37	19	55805585	55805585	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:55805585C>A	ENST00000309383.1	+	6	856	c.579C>A	c.(577-579)tcC>tcA	p.S193S	BRSK1_ENST00000585418.1_Silent_p.S193S|BRSK1_ENST00000590333.1_Silent_p.S209S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	193	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.S193S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTCAGGTCCCCCCATTATG	0.622000													16	81					6.94344e-10	1.15632e-09	0.539581	1	0
PAK6	56924	broad.mit.edu	37	15	40568142	40568142	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:40568142G>T	ENST00000455577.2	+	10	2670	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L	PAK6_ENST00000441369.1_Silent_p.L631L|PAK6_ENST00000260404.4_Silent_p.L631L|PAK6_ENST00000560346.1_Silent_p.L631L|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000542403.2_Silent_p.L631L|PAK6_ENST00000453867.1_Silent_p.L631L	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCCCAGTGCTGCGAGACTTCC	0.577000													6	70					3.59834e-05	4.57175e-05	0.217242	1	0
RP1L1	94137	broad.mit.edu	37	8	10468155	10468155	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:10468155G>C	ENST00000382483.3	-	4	3676	c.3453C>G	c.(3451-3453)ctC>ctG	p.L1151L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1151					intracellular signal transduction			p.L1151L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGAGATGCTGAGCAGCTCCT	0.567000													4	43					0	0	0.150653	0	0
ALOX12	239	broad.mit.edu	37	17	6913416	6913416	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:6913416T>A	ENST00000251535.6	+	13	1836	c.1783T>A	c.(1783-1785)Tgg>Agg	p.W595R	AC027763.2_ENST00000574377.1_Start_Codon_SNP_p.M1L|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	595	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	p.S594fs*1(1)|p.W595R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GGCCATCTCATGGCATCTGAG	0.582000													8	20					0	0	0.278610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329776	88329776	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:88329776C>A	ENST00000325089.6	+	2	2352	c.2133C>A	c.(2131-2133)aaC>aaA	p.N711K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N470K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	711						integral to membrane		p.N711K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTCCTTTAACATGCAGTACA	0.667000													4	24					0.184627	0.186862	0.184627	1	0
NTRK3	4916	broad.mit.edu	37	15	88679799	88679799	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:88679799G>T	ENST00000394480.1	-	8	985	c.664C>A	c.(664-666)Cga>Aga	p.R222R	NTRK3_ENST00000540489.2_Silent_p.R222R|NTRK3_ENST00000355254.2_Silent_p.R222R|NTRK3_ENST00000360948.2_Silent_p.R222R|NTRK3_ENST00000317501.3_Silent_p.R222R|NTRK3_ENST00000357724.2_Silent_p.R222R|NTRK3_ENST00000558676.1_Silent_p.R222R|NTRK3_ENST00000557856.1_Silent_p.R222R|NTRK3_ENST00000542733.2_Silent_p.R124R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	222	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R222R(3)	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)			TCACCCTCTCGTACGGTCAGG	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			3	30					0.115264	0.118671	0.115264	1	0
KCNK6	9424	broad.mit.edu	37	19	38817960	38817960	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:38817960G>T	ENST00000263372.3	+	3	966	c.859G>T	c.(859-861)Gtg>Ttg	p.V287L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	287						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.V287L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGACGATCGGGTGGACATCCT	0.667000													9	45					0.000673444	0.000784121	0.361761	1	0
C7orf33	202865	broad.mit.edu	37	7	148312477	148312477	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:148312477G>A	ENST00000307003.2	+	3	879	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	173								p.R173K(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGGATTTCCAGAACTGACAGC	0.383000													16	116					0	0	0.520397	0	0
DGKZ	8525	broad.mit.edu	37	11	46398736	46398736	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:46398736C>T	ENST00000454345.1	+	26	3005	c.2880C>T	c.(2878-2880)ccC>ccT	p.P960P	DGKZ_ENST00000543978.1_Silent_p.P124P|DGKZ_ENST00000421244.2_Silent_p.P772P|DGKZ_ENST00000343674.6_Silent_p.P788P|DGKZ_ENST00000318201.8_Silent_p.P749P|DGKZ_ENST00000532868.2_Silent_p.P776P|DGKZ_ENST00000528615.1_Silent_p.P550P|DGKZ_ENST00000527911.1_Silent_p.P772P|DGKZ_ENST00000456247.2_Silent_p.P771P|DGKZ_ENST00000395574.3_Silent_p.P738P	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	960					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.P960P(1)|p.P788P(1)|p.P772P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCCTCTCCCCACCTCACCCT	0.627000													6	18					0	0	0.248553	0	0
COL26A1	136227	broad.mit.edu	37	7	101090977	101090977	+	RNA	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:101090977G>A	ENST00000313669.7	+	0	486				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1									p.L98L(1)									ACAGGACTCTGATCAGACCCA	0.592000													3	7					0	0	0.115264	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875626	75875626	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:75875626G>C	ENST00000266659.3	+	2	388	c.187G>C	c.(187-189)Gca>Cca	p.A63P		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	63					cellular lipid metabolic process	extracellular region|integral to membrane		p.A63P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TTGGGACCCAGCACTAGCCCA	0.453000													28	171					0	0	0.750413	0	0
CDH20	28316	broad.mit.edu	37	18	59217255	59217255	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:59217255C>A	ENST00000262717.4	+	11	2091	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	CDH20_ENST00000538374.1_Missense_Mutation_p.Q565K|CDH20_ENST00000536675.2_Missense_Mutation_p.Q565K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	565	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q565K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTCCGGCAGCAGGAGCAGAG	0.522000													4	31					0.00909568	0.00995286	0.150653	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38621383	38621383	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:38621383C>A	ENST00000222345.6	+	10	3623	c.3114C>A	c.(3112-3114)atC>atA	p.I1038I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1038	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I1038I(1)		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)			TGGTCATCATCCCGCCTTTTG	0.627000													10	38					1.58986e-06	2.19328e-06	0.361761	1	0
KIAA0586	9786	broad.mit.edu	37	14	58941420	58941420	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:58941420A>G	ENST00000423743.3	+	20	2856	c.2598A>G	c.(2596-2598)ccA>ccG	p.P866P	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Silent_p.P895P|KIAA0586_ENST00000354386.6_Silent_p.P963P|KIAA0586_ENST00000261244.5_Silent_p.P834P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	834								p.P963P(1)|p.P834P(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATGGTCCTCCATTTCCGCCAG	0.363000													9	40					0	0	0.361761	0	0
NUP205	23165	broad.mit.edu	37	7	135311040	135311040	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:135311040G>C	ENST00000285968.6	+	33	4750	c.4724G>C	c.(4723-4725)aGa>aCa	p.R1575T		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1575					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R1575T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGCTGCTAAGATCAGGGGTG	0.443000													27	79					0	0	0.693898	0	0
TECPR1	25851	broad.mit.edu	37	7	97852406	97852406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:97852406C>A	ENST00000447648.2	-	21	3123	c.2824G>T	c.(2824-2826)Gag>Tag	p.E942*	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Nonsense_Mutation_p.E944*			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	942						integral to membrane	protein binding	p.E943*(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCGGGCTCTCCGGGATGATG	0.672000													3	12					0.115264	0.118671	0.115264	1	0
FAM71A	149647	broad.mit.edu	37	1	212798394	212798394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:212798394G>A	ENST00000294829.3	+	1	606	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	59								p.V59M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAGGGGAGAAGTGATTGATGT	0.522000													14	69					0	0	0.520397	0	0
INTS4P1	285905	broad.mit.edu	37	7	64639799	64639799	+	RNA	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:64639799T>C	ENST00000587624.1	+	0	682																											CTGCAGTCCATACATACCATG	0.448000													8	63					0	0	0.361761	0	0
ANKFY1	51479	broad.mit.edu	37	17	4075872	4075872	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:4075872G>A	ENST00000341657.4	-	22	3153	c.3118C>T	c.(3118-3120)Ccg>Tcg	p.P1040S	ANKFY1_ENST00000570535.1_Missense_Mutation_p.P1082S|ANKFY1_ENST00000574367.1_Missense_Mutation_p.P1041S|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1040						endosome membrane	metal ion binding|protein binding	p.P1041S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGCATCCGGCTTGTCCAGA	0.562000													3	53					0	0	0.184627	0	0
NXPE4	54827	broad.mit.edu	37	11	114453728	114453728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:114453728T>A	ENST00000375478.3	-	3	292	c.112A>T	c.(112-114)Aac>Tac	p.N38Y	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.N38Y(1)									ATGGATAAGTTTAGAGCAGAC	0.388000													7	163					0	0	0.248553	0	0
DNAH9	1770	broad.mit.edu	37	17	11592949	11592949	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:11592949C>A	ENST00000262442.3	+	20	3878	c.3810C>A	c.(3808-3810)tcC>tcA	p.S1270S	DNAH9_ENST00000454412.2_Silent_p.S1270S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	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	p.S1270*(1)		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)		AGATGGAATCCACTATGGCCT	0.488000													13	74					1.5842e-08	2.46169e-08	0.435327	1	0
IL1RL1	9173	broad.mit.edu	37	2	102964500	102964500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:102964500G>A	ENST00000233954.1	+	9	1337	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	356					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E356K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTTCTGGATTGAGGCCACTCT	0.363000													5	67					0	0	0.217242	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151219439	151219439	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:151219439C>T	ENST00000409426.1	+	14	2093	c.1648C>T	c.(1648-1650)Cat>Tat	p.550_550insY	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.562_562insY|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.500_500insY|PIP5K1A_ENST00000414290.2_Silent_p.P170P|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.522_522insY			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	0					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.H562Y(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGTTCACCCATGTGAGTAT	0.408000													17	98					0	0	0.557998	0	0
EPHB6	2051	broad.mit.edu	37	7	142562114	142562114	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:142562114G>C	ENST00000392957.2	+	7	1343	c.556G>C	c.(556-558)Gct>Cct	p.A186P	EPHB6_ENST00000442129.1_Missense_Mutation_p.A186P|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	186						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A171P(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACCCCACGGGGCTGGGCAGCG	0.637000													38	297					0	0	0.864702	0	0
AKNA	80709	broad.mit.edu	37	9	117124771	117124771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:117124771C>G	ENST00000307564.4	-	8	1992	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	AKNA_ENST00000374088.3_Missense_Mutation_p.E611Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E530Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E611Q|AKNA_ENST00000223791.3_Missense_Mutation_p.E71Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E611Q(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTCAGGTACTCCTCCTCTAGG	0.652000													3	7					0	0	0.115264	0	0
TGM4	7047	broad.mit.edu	37	3	44948497	44948497	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:44948497A>G	ENST00000296125.4	+	10	1200	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	378					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.I378V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGACATCTTTATTGTCTATGA	0.527000													6	64					0	0	0.217242	0	0
USH2A	7399	broad.mit.edu	37	1	216424377	216424377	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:216424377C>T	ENST00000366943.2	-	12	2421	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	USH2A_ENST00000307340.3_Missense_Mutation_p.G679R|USH2A_ENST00000366942.3_Missense_Mutation_p.G679R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	679	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G679R(1)		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)		TTGTAGAATCCATTCTGGCAC	0.438000										HNSCC(13;0.011)			11	51					0	0	0.361761	0	0
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617000													4	38					0	0	0.150653	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652348	34652348	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:34652348G>T	ENST00000314891.6	-	12	1383	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	402					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	p.G402G(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCAGGCTCCTGCCCCCATCCA	0.602000													4	81					0.000602214	0.000705114	0.184627	1	0
LPPR4	9890	broad.mit.edu	37	1	99771542	99771542	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:99771542C>T	ENST00000370185.3	+	7	1765	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P265L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P365L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		423							phosphatidate phosphatase activity	p.P423L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCCAATACCCCATCTGTAGAA	0.483000													6	43					0	0	0.248553	0	0
UBR4	23352	broad.mit.edu	37	1	19449430	19449430	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:19449430C>A	ENST00000375267.2	-	66	9716	c.9713G>T	c.(9712-9714)cGt>cTt	p.R3238L	UBR4_ENST00000375217.2_Missense_Mutation_p.R3231L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3214L|UBR4_ENST00000375254.3_Missense_Mutation_p.R3238L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3238					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3238L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGATCCCACGCACGTGAGA	0.547000													13	54					0.00316338	0.00357376	0.479597	1	0
CA4	762	broad.mit.edu	37	17	58234889	58234889	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:58234889A>T	ENST00000300900.4	+	4	469	c.370A>T	c.(370-372)Aag>Tag	p.K124*		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	124					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.K124*(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTGCCATATAAGGGCTCGGA	0.607000													23	127					0	0	0.639603	0	0
VIL1	7429	broad.mit.edu	37	2	219294032	219294032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:219294032C>T	ENST00000248444.5	+	7	680	c.592C>T	c.(592-594)Cga>Tga	p.R198*	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Nonsense_Mutation_p.R198*	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	198	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R198*(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGGAGATCCGAGACCAGGA	0.622000													6	70					0	0	0.307466	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753949	140753949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:140753949C>A	ENST00000517434.1	+	1	299	c.299C>A	c.(298-300)cCg>cAg	p.P100Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P100Q(1)|p.P100L(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCCCGCGGTGTCTG	0.512000													13	57					0.00010058	0.00012116	0.411799	1	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													3	14					0	0	0.115264	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486066	41486066	+	Silent	SNP	C	C	G	rs148645268		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:41486066C>G	ENST00000359345.1	-	1	2843	c.267G>C	c.(265-267)ccG>ccC	p.P89P	SLFNL1_ENST00000439569.2_Silent_p.P89P|SLFNL1_ENST00000397197.2_Silent_p.P89P|SLFNL1_ENST00000372611.1_Silent_p.P89P|SLFNL1_ENST00000372613.2_Silent_p.P89P|SLFNL1_ENST00000302946.8_Silent_p.P89P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	89							ATP binding	p.P89P(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				AGGCCTTCCGCGGCCGCCTCA	0.672000													8	55					0	0	0.278610	0	0
INHBE	83729	broad.mit.edu	37	12	57850274	57850274	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:57850274G>T	ENST00000266646.2	+	2	912	c.696G>T	c.(694-696)cgG>cgT	p.R232R	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	232					growth	extracellular region	growth factor activity|hormone activity	p.R232R(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GAGCAGGCCGGGCCAGGAGGA	0.607000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	75					1.52009e-12	2.84932e-12	0.479597	1	0
SPNS1	83985	broad.mit.edu	37	16	28990742	28990742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:28990742G>T	ENST00000311008.11	+	5	990	c.613G>T	c.(613-615)Gca>Tca	p.A205S	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.A132S|SPNS1_ENST00000334536.8_Missense_Mutation_p.A205S|SPNS1_ENST00000352260.7_Missense_Mutation_p.A183S|SPNS1_ENST00000565975.1_Missense_Mutation_p.A250S|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	205					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	p.A205S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGCTACATTGCAGGCTCCAA	0.617000													16	72					1.33834e-09	2.20246e-09	0.557998	1	0
ZNF831	128611	broad.mit.edu	37	20	57768948	57768948	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:57768948G>C	ENST00000371030.2	+	1	2874	c.2874G>C	c.(2872-2874)tgG>tgC	p.W958C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	958						intracellular	nucleic acid binding|zinc ion binding	p.W958C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCATTCCCTGGGGACCAAGGC	0.592000													10	57					0	0	0.435327	0	0
PBX1	5087	broad.mit.edu	37	1	164789369	164789369	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:164789369T>G	ENST00000420696.2	+	7	1246	c.1058T>G	c.(1057-1059)cTc>cGc	p.L353R	PBX1_ENST00000560641.1_Missense_Mutation_p.L248R|PBX1_ENST00000540236.1_Missense_Mutation_p.L353R|PBX1_ENST00000540246.1_Missense_Mutation_p.L248R|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	353					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L353R(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GTGCAGTCACTCAATGGGGAT	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								6	76					0	0	0.217242	0	0
GH2	2689	broad.mit.edu	37	17	61958500	61958500	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:61958500G>T	ENST00000332800.7	-	3	313	c.180C>A	c.(178-180)gcC>gcA	p.A60A	GH2_ENST00000456543.2_Silent_p.A60A|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Silent_p.A60A	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	60						extracellular region	hormone activity	p.A60A(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCAGGATATAGGCTTCTTCCT	0.517000													48	234					1.32667e-27	2.8585e-27	0.870114	1	0
FRG1	2483	broad.mit.edu	37	4	190883020	190883020	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:190883020A>G	ENST00000226798.4	+	8	895	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	225					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.K225E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TAAAATAAGTAAAGAAGACAG	0.308000													22	203					0	0	0.667858	0	0
MAP2	4133	broad.mit.edu	37	2	210561275	210561275	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:210561275G>T	ENST00000360351.4	+	8	4696	c.4190G>T	c.(4189-4191)aGg>aTg	p.R1397M	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R1393M|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1397					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	p.R1397M(1)		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)	GATGATGATAGGAGCATCATG	0.343000													7	64					0.0477658	0.0504194	0.307466	1	0
LILRA2	11027	broad.mit.edu	37	19	55086241	55086241	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:55086241G>C	ENST00000251377.3	+	5	529	c.396G>C	c.(394-396)gtG>gtC	p.V132V	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Silent_p.V132V|LILRA2_ENST00000251376.3_Silent_p.V132V|LILRA2_ENST00000391737.1_Silent_p.V120V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V132V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCAGCCCTGTGGTGACCTTAG	0.562000													22	79					0	0	0.681144	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518073	113518073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:113518073C>A	ENST00000284601.3	-	4	3142	c.3074G>T	c.(3073-3075)aGg>aTg	p.R1025M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1025					glycogen metabolic process	integral to membrane		p.R1025M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTTCATGCCTTGCTTCTTC	0.398000													34	222					1.61788e-16	3.31507e-16	0.760397	1	0
OR52B6	340980	broad.mit.edu	37	11	5603032	5603032	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:5603032C>T	ENST00000345043.2	+	1	926	c.926C>T	c.(925-927)cCc>cTc	p.P309L	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P309L(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAATCCCGTTATTTAT	0.438000													25	127					0	0	0.667858	0	0
MYO5B	4645	broad.mit.edu	37	18	47390574	47390574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr18:47390574C>G	ENST00000285039.7	-	28	4079	c.3780G>C	c.(3778-3780)gaG>gaC	p.E1260D	MYO5B_ENST00000324581.6_Missense_Mutation_p.E401D|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1260					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E1260D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGATGAGCACCTCCTCCTTGC	0.667000													15	47					0	0	0.479597	0	0
CPNE4	131034	broad.mit.edu	37	3	131404802	131404802	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr3:131404802C>A	ENST00000512055.1	-	10	2634	c.507_splice	c.e10-1	p.D170_splice	CPNE4_ENST00000502818.1_Splice_Site_p.D188_splice|CPNE4_ENST00000511604.1_Splice_Site_p.D170_splice|CPNE4_ENST00000512332.1_Splice_Site_p.D188_splice|CPNE4_ENST00000429747.1_Splice_Site_p.D170_splice			Q96A23	CPNE4_HUMAN	copine IV	170	C2 2.							p.D170Y(1)		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						CTGAAGAAATCCTAAAATAGA	0.373000													14	29					9.31168e-06	1.25154e-05	0.435327	1	0
VIT	5212	broad.mit.edu	37	2	37032694	37032694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:37032694G>T	ENST00000379242.3	+	14	1578	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	VIT_ENST00000497382.1_Nonsense_Mutation_p.E80*|VIT_ENST00000379241.3_Nonsense_Mutation_p.E389*|VIT_ENST00000404084.1_Nonsense_Mutation_p.E363*|VIT_ENST00000389975.3_Nonsense_Mutation_p.E411*|VIT_ENST00000401530.1_Nonsense_Mutation_p.E390*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	411	VWFA 1.					proteinaceous extracellular matrix		p.E426*(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGACAAAGTGGAGGAGGCTTC	0.498000													12	73					3.07112e-06	4.16794e-06	0.387290	1	0
HMGA2	8091	broad.mit.edu	37	12	66221815	66221815	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:66221815G>T	ENST00000541363.1	+	2	519	c.146G>T	c.(145-147)aGg>aTg	p.R49M	HMGA2_ENST00000536545.1_Missense_Mutation_p.R49M|HMGA2_ENST00000403681.2_Missense_Mutation_p.R49M|HMGA2_ENST00000425208.2_Missense_Mutation_p.R49M|HMGA2_ENST00000393577.3_Missense_Mutation_p.R49M|HMGA2_ENST00000354636.3_Missense_Mutation_p.R49M|HMGA2_ENST00000393578.3_Missense_Mutation_p.R49M			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	49	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	p.R49M(2)	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AAGAGACCCAGGGGAAGACCC	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								7	35					0.00621372	0.00687125	0.335167	1	0
FRMPD1	22844	broad.mit.edu	37	9	37746166	37746166	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:37746166C>A	ENST00000539465.1	+	16	4730	c.4137C>A	c.(4135-4137)ccC>ccA	p.P1379P	FRMPD1_ENST00000377765.3_Silent_p.P1379P|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1379						cytoskeleton|cytosol|plasma membrane		p.P1379P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGTTCTGCCCTGGAGGCCTG	0.652000													16	70					1.3612e-06	1.89661e-06	0.479597	1	0
RRP12	23223	broad.mit.edu	37	10	99144970	99144970	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:99144970C>A	ENST00000370992.4	-	10	1272	c.1161G>T	c.(1159-1161)ctG>ctT	p.L387L	RRP12_ENST00000414986.1_Silent_p.L326L|RRP12_ENST00000536831.1_Silent_p.L105L|RRP12_ENST00000315563.6_Silent_p.L287L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	387						integral to membrane|nuclear membrane|nucleolus	protein binding	p.L387L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCCAGGCTAGCAGGGGTTGTA	0.537000													18	97					3.62473e-10	6.08489e-10	0.608945	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748556	20748556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr16:20748556C>A	ENST00000381337.2	-	4	1052	c.708G>T	c.(706-708)caG>caT	p.Q236H	THUMPD1_ENST00000431224.2_Missense_Mutation_p.Q322H|THUMPD1_ENST00000396083.2_Missense_Mutation_p.Q236H	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	236	THUMP.							p.Q236H(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CCACTGTGTACTGTGGATTGG	0.388000													13	81					4.3838e-07	6.40709e-07	0.435327	1	0
PAMR1	25891	broad.mit.edu	37	11	35515796	35515796	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:35515796C>A	ENST00000378880.2	-	2	543	c.98G>T	c.(97-99)tGc>tTc	p.C33F	PAMR1_ENST00000278360.3_Missense_Mutation_p.C33F|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Missense_Mutation_p.C33F|PAMR1_ENST00000532848.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	33					proteolysis	extracellular region	serine-type endopeptidase activity	p.C33F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCCAGGGCAGGCTTCATT	0.483000													14	60					6.94344e-10	1.15632e-09	0.539581	1	0
GPR55	9290	broad.mit.edu	37	2	231775406	231775406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:231775406G>T	ENST00000392040.1	-	2	464	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	GPR55_ENST00000392039.2_Missense_Mutation_p.P91Q	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	91					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.P91Q(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCACAGGGACGGGAAGGGGGA	0.567000													3	45					0.115264	0.118671	0.115264	1	0
ZNF347	84671	broad.mit.edu	37	19	53643937	53643937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:53643937C>A	ENST00000452676.2	-	5	2573	c.2147G>T	c.(2146-2148)gGg>gTg	p.G716V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G716V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G715V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G715V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTGATT	0.428000													20	141					7.41877e-09	1.17464e-08	0.608945	1	0
COL5A2	1290	broad.mit.edu	37	2	189943287	189943287	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:189943287C>A	ENST00000374866.3	-	16	1288	c.1014G>T	c.(1012-1014)agG>agT	p.R338S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	338					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R338S(1)		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)			CTGGCATTCCCCTCGGACCCT	0.428000													26	148					3.65163e-15	7.33837e-15	0.706142	1	0
PHLDB1	23187	broad.mit.edu	37	11	118498623	118498623	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:118498623A>T	ENST00000361417.2	+	7	1495	c.1084A>T	c.(1084-1086)Agc>Tgc	p.S362C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S362C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	362								p.S362C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGGCCATCAGCCTGAGTGA	0.627000													13	33					0	0	0.411799	0	0
RXFP1	59350	broad.mit.edu	37	4	159568062	159568062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:159568062G>A	ENST00000307765.5	+	16	1716	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	RXFP1_ENST00000448688.2_Missense_Mutation_p.G384R|RXFP1_ENST00000343542.5_Missense_Mutation_p.G441R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G456R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G408R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	489						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.G489R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGCTTGTAGGATCTTTGGC	0.388000													11	92					0	0	0.387290	0	0
TCERG1L	256536	broad.mit.edu	37	10	132891506	132891506	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr10:132891506C>A	ENST00000368642.4	-	12	1765	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	560	FF 2.							p.Q519H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AAAAATGCTCCTGGTCCTTTC	0.398000													20	86					1.87028e-06	2.57164e-06	0.608945	1	0
ZNF479	90827	broad.mit.edu	37	7	57188426	57188426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:57188426T>A	ENST00000331162.4	-	5	966	c.696A>T	c.(694-696)aaA>aaT	p.K232N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K232N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATGAATTATTTTATGTGTAG	0.383000													4	24					0	0	0.217242	0	0
OR10T2	128360	broad.mit.edu	37	1	158368884	158368884	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:158368884C>A	ENST00000334438.1	-	1	372	c.373G>T	c.(373-375)Gta>Tta	p.V125L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V125L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAATTGCTACATAGCGATCA	0.473000													25	93					5.45024e-15	1.09005e-14	0.654019	1	0
DCHS2	54798	broad.mit.edu	37	4	155226379	155226379	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:155226379G>T	ENST00000357232.3	-	16	3899	c.3900C>A	c.(3898-3900)gtC>gtA	p.V1300V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1300	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1300V(1)		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)		GCTTGGAATTGACTCCTTAAG	0.338000													6	28					0.0215528	0.0229823	0.217242	1	0
CPA2	1358	broad.mit.edu	37	7	129919383	129919383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:129919383G>T	ENST00000222481.4	+	9	923	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	290					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.V288L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAAATCCATAGTGGACTTCAT	0.493000													23	63					3.5997e-14	7.09752e-14	0.624587	1	0
ELF2	1998	broad.mit.edu	37	4	139980359	139980359	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:139980359C>A	ENST00000394235.2	-	10	2026	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.Q508H|ELF2_ENST00000358635.3_Missense_Mutation_p.Q460H|ELF2_ENST00000379549.2_Missense_Mutation_p.Q431H|ELF2_ENST00000379550.1_Missense_Mutation_p.Q520H|ELF2_ENST00000510408.1_Missense_Mutation_p.Q448H	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	520					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	p.Q508H(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GAGGAGGAGTCTGGCCAGATG	0.478000													24	104					2.89027e-11	5.07618e-11	0.624587	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281193	49281193	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr13:49281193G>T	ENST00000282018.3	+	1	243	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	80					immune response	integral to membrane|plasma membrane		p.L80L(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGCTAAATCTGGCCATTTCAG	0.428000													15	64					7.93312e-07	1.11651e-06	0.457914	1	0
IL36RN	26525	broad.mit.edu	37	2	113820090	113820090	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:113820090C>A	ENST00000393200.2	+	5	465	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	IL36RN_ENST00000346807.3_Silent_p.R102R	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	102						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R102R(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTTCTACCGGCGGGACAT	0.612000													6	31					0.248553	0.250954	0.248553	1	0
SPEF2	79925	broad.mit.edu	37	5	35753776	35753776	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:35753776G>T	ENST00000440995.2	+	24	3366	c.3366G>T	c.(3364-3366)gcG>gcT	p.A1122A	SPEF2_ENST00000356031.3_Silent_p.A1127A|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.A1127A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGAGGCGGAGCAGGAGC	0.493000													22	114					1.22574e-08	1.92616e-08	0.624587	1	0
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512000		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)			6	16					0.0293803	0.03117	0.248553	1	0
ALDH3B2	222	broad.mit.edu	37	11	67432013	67432013	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr11:67432013C>G	ENST00000349015.3	-	8	1165	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.V243L	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	243					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.V243L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTCCTGCACGTCCACCAGC	0.662000													8	31					0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9061893	9061893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr19:9061893G>T	ENST00000397910.4	-	3	25756	c.25553C>A	c.(25552-25554)aCc>aAc	p.T8518N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8520	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8518N(2)|p.T4151N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCAAAAGGTTGTTGTTGA	0.502000													21	86					1.37657e-19	2.84854e-19	0.608945	1	0
MYOM2	9172	broad.mit.edu	37	8	2020568	2020568	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr8:2020568C>T	ENST00000262113.4	+	9	1078	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	313	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.R313C(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGTGCAGCCGCGCGCCGAGTG	0.592000													5	17					0	0	0.248553	0	0
AMER3	205147	broad.mit.edu	37	2	131519959	131519959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:131519959C>A	ENST00000423981.1	+	2	424	c.314C>A	c.(313-315)aCg>aAg	p.T105K	AMER3_ENST00000321420.4_Missense_Mutation_p.T105K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.T105K(1)									GGCAGGGCCACGGCTGCCACA	0.662000													5	13					0.00116845	0.00134548	0.217242	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	19					0.00198382	0.00225336	0.248553	1	0
MSH6	2956	broad.mit.edu	37	2	48026966	48026966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:48026966G>T	ENST00000234420.4	+	4	1996	c.1844G>T	c.(1843-1845)tGt>tTt	p.C615F	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.C485F|MSH6_ENST00000538136.1_Missense_Mutation_p.C313F	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	615					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATTGTCCTGTTCTCTTCAG	0.393000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	124					0.00116845	0.00134548	0.217242	1	0
LYST	1130	broad.mit.edu	37	1	235918893	235918893	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:235918893T>A	ENST00000389794.3	-	25	7288	c.7114A>T	c.(7114-7116)Aag>Tag	p.K2372*	LYST_ENST00000389793.2_Nonsense_Mutation_p.K2372*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2372					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.K2372*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCACGATTCTTCAGAAATTTA	0.308000													57	251					0	0	0.870114	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712478	187712478	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:187712478C>T	ENST00000295131.2	-	2	249	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353000													11	93					0	0	0.411799	0	0
IL31RA	133396	broad.mit.edu	37	5	55168177	55168177	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:55168177C>A	ENST00000396834.1	+	6	791	c.295C>A	c.(295-297)Cca>Aca	p.P99T	IL31RA_ENST00000447346.2_Missense_Mutation_p.P118T|IL31RA_ENST00000354961.4_Missense_Mutation_p.P99T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000396836.2_Missense_Mutation_p.P118T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000359040.5_Missense_Mutation_p.P118T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	86	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.P118T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTTTCCTTCCAAGAATAAC	0.348000													18	63					9.16793e-09	1.44611e-08	0.520397	1	0
AKAP9	10142	broad.mit.edu	37	7	91712731	91712731	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:91712731G>T	ENST00000359028.2	+	34	8669	c.8444G>T	c.(8443-8445)gGa>gTa	p.G2815V	AKAP9_ENST00000358100.2_Missense_Mutation_p.G2815V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G2803V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2815					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.G2803V(1)|p.G2815V(1)		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)			AAAAATGCAGGAATACAAATT	0.358000			T	BRAF	papillary thyroid								15	56					4.93089e-13	9.49821e-13	0.457914	1	0
REC8	9985	broad.mit.edu	37	14	24648811	24648811	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:24648811G>A	ENST00000311457.3	+	18	1926	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	REC8_ENST00000559939.1_3'UTR|REC8_ENST00000559919.1_Missense_Mutation_p.E443K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	444	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		p.E443K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GGCCTGGCCTGAGGTGGAGGC	0.622000													9	46					0	0	0.361761	0	0
RASAL1	8437	broad.mit.edu	37	12	113557022	113557022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:113557022C>A	ENST00000546530.1	-	8	838	c.553G>T	c.(553-555)Gag>Tag	p.E185*	RASAL1_ENST00000261729.5_Nonsense_Mutation_p.E185*|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.E185*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.E185*	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	185	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.E185*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCCGCAGCTCCAGCACTTCA	0.617000													13	36					9.31168e-06	1.25154e-05	0.435327	1	0
KIF21B	23046	broad.mit.edu	37	1	200960046	200960046	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:200960046G>T	ENST00000332129.2	-	18	3002	c.2687_splice	c.e18+1	p.R896_splice	KIF21B_ENST00000461742.2_Splice_Site_p.R896_splice|KIF21B_ENST00000422435.2_Splice_Site_p.R896_splice|KIF21B_ENST00000360529.5_Splice_Site_p.R896_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R896R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTTACCGGGCAGGACGG	0.647000													12	44					2.80697e-09	4.54773e-09	0.387290	1	0
LRSAM1	90678	broad.mit.edu	37	9	130251778	130251778	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:130251778A>G	ENST00000323301.4	+	18	2007	c.1403A>G	c.(1402-1404)cAt>cGt	p.H468R	LRSAM1_ENST00000373324.4_Missense_Mutation_p.H468R|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H468R|LRSAM1_ENST00000373322.1_Missense_Mutation_p.H468R|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	468					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.H468R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACCTGATGCATCGGCAGATC	0.647000													3	8					0	0	0.115264	0	0
RHAG	6005	broad.mit.edu	37	6	49586929	49586929	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:49586929G>T	ENST00000371175.4	-	2	330	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	RHAG_ENST00000229810.7_Missense_Mutation_p.Q102K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	102					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.Q102K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CCCTGGCTTTGCAGGATTCCC	0.443000													14	47					4.7546e-09	7.67345e-09	0.500413	1	0
ASPM	259266	broad.mit.edu	37	1	197112663	197112663	+	Missense_Mutation	SNP	G	G	A	rs140646088		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:197112663G>A	ENST00000367409.4	-	3	975	c.719C>T	c.(718-720)tCt>tTt	p.S240F	ASPM_ENST00000294732.7_Missense_Mutation_p.S240F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	240					mitosis	cytoplasm|nucleus	calmodulin binding	p.S240F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGACGTACAGAGAGTGGCAA	0.363000													27	136					0	0	0.706142	0	0
TGFB2	7042	broad.mit.edu	37	1	218607527	218607527	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr1:218607527A>T	ENST00000366929.4	+	4	1165	c.698A>T	c.(697-699)gAt>gTt	p.D233V	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Missense_Mutation_p.D205V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	205					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.D205V(1)|p.D233V(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATGTAACTGATGCTGTTCAT	0.423000													27	125					0	0	0.667858	0	0
OTOF	9381	broad.mit.edu	37	2	26689581	26689581	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:26689581C>A	ENST00000272371.2	-	36	4627		c.e36+1		OTOF_ENST00000402415.3_Splice_Site|OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGTCTCACCCGGACCACA	0.587000													5	29					0.014758	0.0159402	0.184627	1	0
HOXA1	3198	broad.mit.edu	37	7	27135409	27135409	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr7:27135409C>A	ENST00000343060.4	-	1	184	c.123G>T	c.(121-123)gcG>gcT	p.A41A	HOXA1_ENST00000355633.5_Silent_p.A41A|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	41						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A41A(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGCGCTGACCGCGCACGACT	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	39					7.48243e-07	1.06746e-06	0.335167	1	0
LRFN5	145581	broad.mit.edu	37	14	42356224	42356224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr14:42356224C>A	ENST00000554171.1	+	5	2828	c.396C>A	c.(394-396)aaC>aaA	p.N132K	LRFN5_ENST00000554120.1_Missense_Mutation_p.N132K|LRFN5_ENST00000298119.4_Missense_Mutation_p.N132K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	132						integral to membrane		p.N132K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TACTGAACAACAATCAGCTGA	0.373000										HNSCC(30;0.082)			6	64					8.12818e-05	9.93445e-05	0.248553	1	0
IL36G	56300	broad.mit.edu	37	2	113742478	113742478	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr2:113742478G>A	ENST00000259205.4	+	5	431	c.362G>A	c.(361-363)cGt>cAt	p.R121H	IL36G_ENST00000376489.2_Missense_Mutation_p.R86H	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	121					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R121H(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTTTTCTACCGTGCCAAGACT	0.512000													12	60					0	0	0.479597	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45566945	45566945	+	RNA	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:45566945C>A	ENST00000256692.5	-	0	1740					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATCATACAACCTCATCAGAT	0.403000													7	47					3.09899e-07	4.54518e-07	0.307466	1	0
KCNB1	3745	broad.mit.edu	37	20	47989564	47989564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr20:47989564G>T	ENST00000371741.4	-	2	2699	c.2533C>A	c.(2533-2535)Cca>Aca	p.P845T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	845					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P845T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTCCCCCTGGCAACACACGG	0.532000													4	37					0.00024832	0.00029488	0.150653	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85518290	85518290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:85518290G>T	ENST00000393217.2	+	17	4061	c.4000G>T	c.(4000-4002)Gaa>Taa	p.E1334*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334								p.E1334*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAGCCTAGTGAAAAAATGTA	0.328000													30	196					4.22769e-11	7.39404e-11	0.706142	1	0
POTEF	728378	broad.mit.edu	37	2	130877748	130877748	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:130877748T>A	ENST00000357462.5	-	1	434	c.341A>T	c.(340-342)aAg>aTg	p.K114M	POTEF_ENST00000360967.5_Missense_Mutation_p.K114M|POTEF_ENST00000409914.2_Missense_Mutation_p.K114M|POTEF_ENST00000361163.4_Missense_Mutation_p.K114M			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	114						cell cortex	ATP binding	p.K114M(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CACCTTGCTCTTGCTGCTCCC	0.597000													12	88					0	0	0.479597	0	0
NAGK	55577	broad.mit.edu	37	2	71303832	71303832	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:71303832G>T	ENST00000418807.3	+	7	776		c.e7+1		NAGK_ENST00000244204.5_Splice_Site|NAGK_ENST00000455662.2_Splice_Site			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase						N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GATTGACCCGGTGAGTTGAGG	0.567000													3	16					6.4e-05	8.01618e-05	0.115264	1	0
SLC9C2	284525	broad.mit.edu	37	1	173493226	173493226	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:173493226A>G	ENST00000367714.3	-	21	2944	c.2522T>C	c.(2521-2523)cTt>cCt	p.L841P	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	841					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.L841P(1)									TAATTTTTTAAGAAGTACCTA	0.338000													11	55					0	0	0.435327	0	0
NEB	4703	broad.mit.edu	37	2	152551035	152551035	+	Splice_Site	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:152551035C>G	ENST00000397345.3	-	19	1985		c.e19+1		NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.?(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCACACTCACATCGCTGGTG	0.507000													3	33					0	0	0.115264	0	0
DGCR2	9993	broad.mit.edu	37	22	19029328	19029328	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr22:19029328C>A	ENST00000263196.7	-	8	1398	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.G343V	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	384					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.G384V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACAGTTTGCTCCAATCAGGGA	0.637000													5	51					0.0215528	0.0230449	0.217242	1	0
ZNF805	390980	broad.mit.edu	37	19	57765064	57765064	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:57765064G>T	ENST00000535550.1	+	4	974	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ZNF805_ENST00000414468.2_Nonsense_Mutation_p.G293*|ZNF805_ENST00000354309.4_Nonsense_Mutation_p.G160*	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G293*(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CAGTGAATGTGGAAAGGCCTT	0.493000													5	27					8.12818e-05	9.93974e-05	0.248553	1	0
RAB38	23682	broad.mit.edu	37	11	87847169	87847169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:87847169C>A	ENST00000243662.6	-	3	705	c.623G>T	c.(622-624)tGt>tTt	p.C208F	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	208		Not methylated.			protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	p.C208F(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGATTTGGCACAGCCAGAGCA	0.473000													19	93					6.49762e-13	1.23722e-12	0.539581	1	0
MUC2	4583	broad.mit.edu	37	11	1084795	1084795	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:1084795G>A	ENST00000441003.2	+	20	2617	c.2590G>A	c.(2590-2592)Ggg>Agg	p.G864R	MUC2_ENST00000359061.5_Missense_Mutation_p.G864R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	864	VWFD 3.					inner mucus layer|outer mucus layer	protein binding	p.G864R(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCATTTACGGGAGTGGCCA	0.597000													3	7					0	0	0.115264	0	0
HSPG2	3339	broad.mit.edu	37	1	22222444	22222444	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:22222444C>A	ENST00000374695.3	-	3	294	c.215G>T	c.(214-216)gGg>gTg	p.G72V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	72					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.G72V(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCCAGGTCCCCACTGCCCAG	0.567000													6	34					0.00198382	0.00225409	0.248553	1	0
UGT2B7	7364	broad.mit.edu	37	4	69962328	69962328	+	Silent	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:69962328A>T	ENST00000305231.7	+	1	136	c.90A>T	c.(88-90)gcA>gcT	p.A30A	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.A30A	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	30					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A30A(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGTGTGGGCAGCAGAATACA	0.428000													16	99					0	0	0.539581	0	0
EPHA5	2044	broad.mit.edu	37	4	66201737	66201737	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:66201737C>A	ENST00000273854.3	-	16	3365	c.2765G>T	c.(2764-2766)aGg>aTg	p.R922M	EPHA5_ENST00000511294.1_Missense_Mutation_p.R923M|EPHA5_ENST00000354839.4_Missense_Mutation_p.R900M|EPHA5_ENST00000432638.2_Missense_Mutation_p.R759M	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	922	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.R922M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAACTTGGGCCTGCTATTTCG	0.483000										TSP Lung(17;0.13)			9	46					7.48243e-07	1.06855e-06	0.335167	1	0
C9orf171	389799	broad.mit.edu	37	9	135447819	135447819	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:135447819G>A	ENST00000343036.2	+	7	933	c.885G>A	c.(883-885)caG>caA	p.Q295Q	C9orf171_ENST00000393216.2_Silent_p.Q259Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	295								p.Q295Q(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCGATCGCCAGAGAGCATTAA	0.627000													11	34					0	0	0.457914	0	0
ZNF783	100289678	broad.mit.edu	37	7	148964255	148964255	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:148964255G>T	ENST00000434415.1	+	4	778	c.615G>T	c.(613-615)cgG>cgT	p.R205R		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	205					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R205L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GTCTTGACCGGTGGGGCCAGG	0.562000													4	35					0.00909568	0.00995511	0.150653	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530683	5530683	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5530683A>T	ENST00000311659.4	-	2	253	c.106T>A	c.(106-108)Tca>Aca	p.S36T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	36	Ubiquitin-like.							p.S36T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGTAACTGAGAAATCCTCC	0.522000													17	80					0	0	0.592651	0	0
COL6A3	1293	broad.mit.edu	37	2	238274635	238274635	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:238274635G>T	ENST00000295550.4	-	12	5996	c.5544C>A	c.(5542-5544)gaC>gaA	p.D1848E	COL6A3_ENST00000472056.1_Missense_Mutation_p.D1241E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1642E|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1647E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1648E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1642E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1848	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D1848E(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAACATTCTGGTCTCTAGAAC	0.527000													17	101					1.56452e-12	2.91253e-12	0.557998	1	0
CNTN1	1272	broad.mit.edu	37	12	41327516	41327516	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:41327516G>C	ENST00000551295.2	+	9	938	c.821G>C	c.(820-822)cGa>cCa	p.R274P	CNTN1_ENST00000547849.1_Missense_Mutation_p.R274P|CNTN1_ENST00000347616.1_Missense_Mutation_p.R274P|CNTN1_ENST00000547702.1_Missense_Mutation_p.R274P|CNTN1_ENST00000360099.3_Missense_Mutation_p.R274P|CNTN1_ENST00000348761.2_Missense_Mutation_p.R263P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	274	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.R274P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCGGATATCCGATGGCGGAAG	0.373000													26	109					0	0	0.706142	0	0
DAPK3	1613	broad.mit.edu	37	19	3964952	3964952	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:3964952C>A	ENST00000545797.2	-	3	343	c.100G>T	c.(100-102)Ggc>Tgc	p.G34C	DAPK3_ENST00000301264.3_Missense_Mutation_p.G34C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	34	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	p.G34C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCGTGCCCTTCTGCCGG	0.662000													5	45					8.12818e-05	9.93974e-05	0.248553	1	0
MTOR	2475	broad.mit.edu	37	1	11308080	11308080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:11308080C>A	ENST00000361445.4	-	7	988	c.912G>T	c.(910-912)atG>atT	p.M304I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	304					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.M304I(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTCCGAAGCCCATGAGATCTT	0.488000													16	122					1.5739e-10	2.67884e-10	0.500413	1	0
GPRIN1	114787	broad.mit.edu	37	5	176026691	176026691	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:176026691G>T	ENST00000303991.4	-	2	322	c.145C>A	c.(145-147)Cag>Aag	p.Q49K		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	49						growth cone|plasma membrane		p.Q49E(1)|p.Q49K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTTTTGCTGGGAGGGGCAG	0.662000													12	74					7.93312e-07	1.11761e-06	0.457914	1	0
NRAP	4892	broad.mit.edu	37	10	115383307	115383307	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:115383307T>C	ENST00000369358.4	-	23	2706	c.2462A>G	c.(2461-2463)aAg>aGg	p.K821R	NRAP_ENST00000369360.3_Missense_Mutation_p.K786R|NRAP_ENST00000360478.3_Missense_Mutation_p.K778R|NRAP_ENST00000359988.3_Missense_Mutation_p.K813R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	813						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.K813R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGtccctcttggctttggc	0.512000													12	73					0	0	0.411799	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440260	104440260	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:104440260C>A	ENST00000372582.1	+	3	942	c.186C>A	c.(184-186)acC>acA	p.T62T	IL1RAPL2_ENST00000344799.4_Silent_p.T62T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	62	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.T62T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATATTCGTACCAACTATAGCA	0.473000													15	53					1.15088e-07	1.70789e-07	0.500413	1	0
QRICH2	84074	broad.mit.edu	37	17	74288678	74288678	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:74288678C>T	ENST00000262765.5	-	4	1811	c.1632G>A	c.(1630-1632)ttG>ttA	p.L544L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	544	Gln-rich.						protein binding	p.L544L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGATTGTACCAAACCATGCT	0.527000													9	50					0	0	0.307466	0	0
ALOX5	240	broad.mit.edu	37	10	45877968	45877968	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:45877968G>C	ENST00000374391.2	+	2	241	c.188G>C	c.(187-189)gGc>gCc	p.G63A	ALOX5_ENST00000542434.1_Missense_Mutation_p.G63A	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	63	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.G63A(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAGGAACTGGGCGAGATCCAG	0.552000													7	27					0	0	0.278610	0	0
PTAFR	5724	broad.mit.edu	37	1	28477276	28477276	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:28477276G>T	ENST00000373857.3	-	2	891	c.257C>A	c.(256-258)cCc>cAc	p.P86H	PTAFR_ENST00000305392.3_Missense_Mutation_p.P86H|PTAFR_ENST00000539896.1_Missense_Mutation_p.P86H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	86					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.P86H(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAATTTGGGGAGTATCCA	0.507000													4	43					1.024e-07	1.55276e-07	0.184627	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:52149086G>A	ENST00000360844.6	-	3	690	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	217	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R217C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642000													10	46					0	0	0.361761	0	0
CDH6	1004	broad.mit.edu	37	5	31294067	31294067	+	Splice_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:31294067A>T	ENST00000265071.2	+	3	493		c.e3-1		CDH6_ENST00000514738.1_Splice_Site	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.?(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTCTACACTAGTTACATTCA	0.328000													6	71					0	0	0.248553	0	0
PSPH	5723	broad.mit.edu	37	7	56087349	56087349	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:56087349C>A	ENST00000395471.3	-	5	1024	c.219G>T	c.(217-219)agG>agT	p.R73S	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.R73S			P78330	SERB_HUMAN	phosphoserine phosphatase	73					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.R73S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCACCTGCTCCCTGGAGGGCT	0.607000													5	32					1.23904e-05	1.61969e-05	0.184627	1	0
RGAG1	57529	broad.mit.edu	37	X	109697657	109697657	+	Missense_Mutation	SNP	G	G	T	rs34064910	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:109697657G>T	ENST00000465301.2	+	3	4058	c.3812G>T	c.(3811-3813)cGg>cTg	p.R1271L	RGAG1_ENST00000540313.1_Missense_Mutation_p.R1271L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1271								p.R1271L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCATTCTACGGACCAGGTTT	0.522000													31	137					8.88839e-20	1.86254e-19	0.750413	1	0
LILRA4	23547	broad.mit.edu	37	19	54849250	54849250	+	Nonsense_Mutation	SNP	G	G	T	rs149766788	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:54849250G>T	ENST00000291759.4	-	4	668	c.612C>A	c.(610-612)taC>taA	p.Y204*		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	204	Ig-like C2-type 2.					integral to membrane	receptor activity	p.Y204*(1)		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)		CCGACCACACGTATGGGGTGT	0.552000													8	44					0.00621372	0.006873	0.335167	1	0
ZNF208	7757	broad.mit.edu	37	19	22156079	22156079	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:22156079C>A	ENST00000397126.4	-	4	1905	c.1757G>T	c.(1756-1758)tGt>tTt	p.C586F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.C486F(2)|p.C586F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCTTTGCCACATTCTTCACA	0.348000													6	20					5.9392e-07	8.56971e-07	0.217242	1	0
IGKV3-7	28915	broad.mit.edu	37	2	89278502	89278502	+	RNA	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:89278502A>G	ENST00000390247.2	-	0	98																											TGGGGCTTCCATGGTTCCGTC	0.567000													7	67					0	0	0.361761	0	0
LILRB4	11006	broad.mit.edu	37	19	55175419	55175419	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:55175419C>A	ENST00000391736.1	+	5	593	c.278C>A	c.(277-279)gCa>gAa	p.A93E	LILRB4_ENST00000391733.3_Missense_Mutation_p.A93E|LILRB4_ENST00000430952.2_Missense_Mutation_p.A93E|LILRB4_ENST00000270452.2_Missense_Mutation_p.A93E|LILRB4_ENST00000391734.3_Missense_Mutation_p.A93E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	93	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.A93E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGGACTATGCAGGGAGATAC	0.577000													24	173					5.62743e-28	1.22861e-27	0.717897	1	0
OR2A14	135941	broad.mit.edu	37	7	143827061	143827061	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:143827061C>A	ENST00000408899.2	+	1	911	c.856C>A	c.(856-858)Ccc>Acc	p.P286T		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P286T(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AATGCTGAACCCCCTGATATA	0.542000													41	171					1.15183e-24	2.46315e-24	0.847076	1	0
CCDC180	100499483	broad.mit.edu	37	9	100126312	100126312	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:100126312C>G	ENST00000357054.1	+	41	4784	c.3849C>G	c.(3847-3849)acC>acG	p.T1283T	CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000529487.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180									p.T1283T(1)									TCCAGACCACCCACCCACCTT	0.627000													7	30					0	0	0.278610	0	0
DUSP22	56940	broad.mit.edu	37	6	348145	348145	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:348145C>T	ENST00000419235.2	+	6	384	c.306C>T	c.(304-306)taC>taT	p.Y102Y	DUSP22_ENST00000344450.5_Silent_p.Y102Y|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	102	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y102Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGATCGCATACATCATGACCG	0.612000													12	134					0	0	0.435327	0	0
CRIPT	9419	broad.mit.edu	37	2	46851311	46851311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:46851311C>A	ENST00000238892.3	+	5	383	c.251C>A	c.(250-252)gCg>gAg	p.A84E	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	84						cell junction|cytoplasm|dendritic spine		p.A84E(1)		kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGCATCTGTGCGATGTGTGGA	0.328000													21	93					1.55795e-14	3.10844e-14	0.608945	1	0
USP44	84101	broad.mit.edu	37	12	95927532	95927532	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:95927532T>C	ENST00000258499.3	-	2	789	c.501A>G	c.(499-501)gaA>gaG	p.E167E	USP44_ENST00000537435.2_Silent_p.E167E|USP44_ENST00000393091.2_Silent_p.E167E|USP44_ENST00000552440.1_Silent_p.E167E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	167					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E167E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						TGGGTGATTGTTCAAACCATG	0.383000													21	81					0	0	0.592651	0	0
TLN2	83660	broad.mit.edu	37	15	63132786	63132786	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:63132786G>A	ENST00000561311.1	+	58	7836	c.7606G>A	c.(7606-7608)Gag>Aag	p.E2536K	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E2536K			Q9Y4G6	TLN2_HUMAN	talin 2	2536					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E2536K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTTACCCACCGAGCTGAGGGA	0.562000													4	19					0	0	0.150653	0	0
GABRG1	2565	broad.mit.edu	37	4	46086071	46086071	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:46086071C>A	ENST00000295452.4	-	3	421		c.e3-1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.?(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GTGGGCCTCACTGCAAAATAT	0.264000													4	10					0.014758	0.0159432	0.184627	1	0
SEMA3A	10371	broad.mit.edu	37	7	83636733	83636733	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:83636733C>T	ENST00000265362.3	-	10	1390	c.1076G>A	c.(1075-1077)aGg>aAg	p.R359K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R359K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	359	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.R359K(1)		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						GGGTCCATCCCTGTGGGCATA	0.438000													36	73					0	0	0.804634	0	0
DNAH5	1767	broad.mit.edu	37	5	13786382	13786382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:13786382C>A	ENST00000265104.4	-	52	8830	c.8726G>T	c.(8725-8727)cGt>cTt	p.R2909L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2909					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2909H(1)|p.R2909L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATATTCAGACGCTCTTTTAG	0.433000									Kartagener syndrome				12	49					3.07112e-06	4.17152e-06	0.387290	1	0
TRBV7-1	28597	broad.mit.edu	37	7	142032319	142032319	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:142032319G>T	ENST00000547918.2	+	0	172																											TCCAATTTCAGGTCATAATGC	0.507000													7	12					5.4927e-09	8.84346e-09	0.307466	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751340	26751340	+	Silent	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:26751340T>G	ENST00000396641.2	+	2	769	c.177T>G	c.(175-177)ccT>ccG	p.P59P	LRRC3B_ENST00000456208.2_Silent_p.P59P|LRRC3B_ENST00000417744.1_Silent_p.P59P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	59	LRRNT.					integral to membrane		p.P59P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGGAAATACCTAGAGATCTTC	0.423000													9	42					0	0	0.307466	0	0
ENTPD1	953	broad.mit.edu	37	10	97583120	97583120	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:97583120A>T	ENST00000539125.1	+	0	467				ENTPD1_ENST00000543964.1_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000371205.4_Splice_Site_p.K48_splice|ENTPD1_ENST00000453258.2_Splice_Site_p.K55_splice|ENTPD1_ENST00000371207.3_Splice_Site_p.K60_splice	NM_001164183.1	NP_001157655.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1						cell adhesion	integral to plasma membrane	ATP binding	p.K48M(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GAAAACGTTAAGGTAAGTCAA	0.458000													11	56					0	0	0.387290	0	0
LILRA1	11024	broad.mit.edu	37	19	55107774	55107774	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:55107774C>A	ENST00000251372.3	+	7	1261	c.1079C>A	c.(1078-1080)gCg>gAg	p.A360E	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	360	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.A360V(1)|p.A360E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGACCAAGGCGGGAGCAGCT	0.587000													14	60					2.31682e-05	2.99107e-05	0.479597	1	0
OR4K15	81127	broad.mit.edu	37	14	20443947	20443947	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:20443947G>C	ENST00000305051.5	+	1	345	c.270G>C	c.(268-270)ctG>ctC	p.L90L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L90L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCAAACCTGTCATTTATAG	0.453000													19	114					0	0	0.639603	0	0
KIAA1614	57710	broad.mit.edu	37	1	180886014	180886014	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:180886014C>A	ENST00000367588.4	+	2	830	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	259								p.L259M(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TAGCACATCCCTGACCTCCGA	0.582000													32	156					3.03874e-20	6.39977e-20	0.779181	1	0
BMPR1A	657	broad.mit.edu	37	10	88681386	88681386	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:88681386A>G	ENST00000372037.2	+	11	1813	c.1276A>G	c.(1276-1278)Atc>Gtc	p.I426V		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	426	Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	p.I426V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						CCAGCCCTACATCATGGCTGA	0.488000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				19	120					0	0	0.592651	0	0
TMCO3	55002	broad.mit.edu	37	13	114193696	114193696	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:114193696A>T	ENST00000434316.2	+	10	1923	c.1564A>T	c.(1564-1566)Atg>Ttg	p.M522L	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	522						integral to membrane	solute:hydrogen antiporter activity	p.M522L(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGACGTCTCCATGGAGCTGGG	0.642000													10	45					0	0	0.411799	0	0
RAI2	10742	broad.mit.edu	37	X	17818841	17818841	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:17818841C>A	ENST00000545871.1	-	3	1750	c.1290G>T	c.(1288-1290)atG>atT	p.M430I	RAI2_ENST00000415486.3_Missense_Mutation_p.M380I|RAI2_ENST00000360011.1_Missense_Mutation_p.M430I|RAI2_ENST00000451717.1_Missense_Mutation_p.M430I|RAI2_ENST00000331511.1_Missense_Mutation_p.M430I	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	430					embryo development			p.M430N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTCGCCCACCATCTCAATGT	0.547000													6	145					0.00116845	0.00134597	0.217242	1	0
OR2F1	26211	broad.mit.edu	37	7	143657537	143657537	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:143657537G>C	ENST00000392899.1	+	1	511	c.474G>C	c.(472-474)gtG>gtC	p.V158V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V158V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCTCTCCTGTGCAGACTGCTA	0.527000													19	46					0	0	0.575678	0	0
NBAS	51594	broad.mit.edu	37	2	15358906	15358906	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:15358906G>A	ENST00000281513.5	-	48	6448	c.6423C>T	c.(6421-6423)ccC>ccT	p.P2141P	NBAS_ENST00000441750.1_Silent_p.P2021P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2141								p.P2141P(1)		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						CCTGTCTCTGGGGCCAGGAGG	0.493000													15	83					0	0	0.520397	0	0
PTPN5	84867	broad.mit.edu	37	11	18765712	18765712	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:18765712G>T	ENST00000396170.1	-	4	1396	c.132C>A	c.(130-132)gaC>gaA	p.D44E	PTPN5_ENST00000396168.1_Missense_Mutation_p.D20E|PTPN5_ENST00000396167.2_Missense_Mutation_p.D44E|PTPN5_ENST00000396171.4_Missense_Mutation_p.D44E|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.D44E	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672000													24	124					1.85244e-09	3.04121e-09	0.654019	1	0
GRAP2	9402	broad.mit.edu	37	22	40366981	40366981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr22:40366981G>T	ENST00000344138.4	+	8	1149	c.886G>T	c.(886-888)Gag>Tag	p.E296*	GRAP2_ENST00000399090.2_Nonsense_Mutation_p.E183*|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.E296*|GRAP2_ENST00000543252.1_Intron|GRAP2_ENST00000544756.1_Nonsense_Mutation_p.E224*|GRAP2_ENST00000540310.1_Nonsense_Mutation_p.E230*	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	296	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	p.E296*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCACAGCGGGGAGGTGGTGGA	0.642000													10	35					4.68919e-08	7.16261e-08	0.361761	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493424	62493424	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:62493424C>G	ENST00000369916.3	+	1	859	c.531C>G	c.(529-531)tgC>tgG	p.C177W		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	177							hydrolase activity	p.C177W(1)		endometrium(2)|kidney(1)|lung(3)	6						TCATCTGCTGCGAAGGCAACG	0.672000													3	11					0	0	0.150653	0	0
LACC1	144811	broad.mit.edu	37	13	44457980	44457980	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:44457980A>G	ENST00000441843.1	+	4	1300	c.815A>G	c.(814-816)cAg>cGg	p.Q272R	LACC1_ENST00000325686.6_Missense_Mutation_p.Q272R	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	272								p.Q272R(1)									ACCACAAATCAGAGAGGAGTC	0.408000													19	82					0	0	0.608945	0	0
ERP44	23071	broad.mit.edu	37	9	102778708	102778708	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:102778708C>A	ENST00000262455.6	-	8	857	c.658G>T	c.(658-660)Gat>Tat	p.D220Y		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	220					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity	p.D220Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TACACCATATCCGGAGCAGAA	0.299000													10	51					0.00829132	0.00914677	0.361761	1	0
WASL	8976	broad.mit.edu	37	7	123349179	123349179	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:123349179T>C	ENST00000223023.4	-	2	548	c.216A>G	c.(214-216)ccA>ccG	p.P72P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	72	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.P72P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGATCTCTGTGGATTGTCCT	0.343000													22	46					0	0	0.608945	0	0
ATP8A1	10396	broad.mit.edu	37	4	42554575	42554575	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:42554575G>C	ENST00000381668.5	-	17	1697	c.1466C>G	c.(1465-1467)aCa>aGa	p.T489R	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T474R	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	489					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.T489R(1)|p.T474R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCACTGCTGTGTGACAGAC	0.363000													11	68					0	0	0.435327	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534764	5534764	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:5534764C>A	ENST00000397747.3	+	3	323	c.75C>A	c.(73-75)gtC>gtA	p.V25V	PDCD1LG2_ENST00000397745.2_Silent_p.V25V	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	25	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.V25V(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CAGTGACAGTCCCTAAGGAAC	0.408000													8	58					3.09899e-07	4.55027e-07	0.307466	1	0
OR8H2	390151	broad.mit.edu	37	11	55873077	55873077	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:55873077C>A	ENST00000313503.1	+	1	559	c.559C>A	c.(559-561)Ctg>Atg	p.L187M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L187M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AATTTTAGCTCTGTCCTGCAC	0.403000										HNSCC(53;0.14)			36	187					2.87052e-16	5.86768e-16	0.812448	1	0
SLC5A7	60482	broad.mit.edu	37	2	108618444	108618444	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:108618444G>T	ENST00000264047.2	+	6	965	c.689G>T	c.(688-690)gGa>gTa	p.G230V	SLC5A7_ENST00000540517.1_Missense_Mutation_p.G125V|SLC5A7_ENST00000409059.1_Missense_Mutation_p.G230V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	230					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.G230V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCGTGGCTGGGAACTGTTGAC	0.453000													11	51					6.42651e-13	1.23496e-12	0.387290	1	0
CRYAB	1410	broad.mit.edu	37	11	111782353	111782353	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:111782353C>A	ENST00000533475.1	-	2	545	c.96G>T	c.(94-96)ctG>ctT	p.L32L	CRYAB_ENST00000227251.3_Silent_p.L32L|CRYAB_ENST00000527950.1_Silent_p.L32L|CRYAB_ENST00000531198.1_Silent_p.L32L|CRYAB_ENST00000526180.1_Silent_p.L32L|CRYAB_ENST00000533971.1_Silent_p.L32L	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	32					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.L32L(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CAGACTCCAACAGGTGCTCTC	0.597000													4	9					0.014758	0.0159432	0.184627	1	0
XYLT1	64131	broad.mit.edu	37	16	17294435	17294435	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:17294435A>C	ENST00000261381.6	-	4	1074	c.990T>G	c.(988-990)ttT>ttG	p.F330L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	330					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.F330L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCACCAGGACAAAGGCGATTC	0.552000													22	132					0	0	0.624587	0	0
UBE3C	9690	broad.mit.edu	37	7	157000138	157000138	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:157000138T>A	ENST00000348165.5	+	12	1825	c.1465T>A	c.(1465-1467)Tct>Act	p.S489T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	489					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTCTCCTATGTCTTTTGAAGA	0.348000													24	194					0	0	0.667858	0	0
RNF40	9810	broad.mit.edu	37	16	30776605	30776605	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:30776605G>C	ENST00000324685.6	+	7	1310	c.875G>C	c.(874-876)cGa>cCa	p.R292P	RNF40_ENST00000357890.5_Missense_Mutation_p.R292P|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.R292P	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	292					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	p.R292P(1)|p.R292Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGCGGAAGCGAGAGCAAAAG	0.597000													9	36					0	0	0.361761	0	0
KRT77	374454	broad.mit.edu	37	12	53096691	53096691	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:53096691G>A	ENST00000341809.3	-	1	556	c.528C>T	c.(526-528)gcC>gcT	p.A176A	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	176	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.A176A(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						caatgaaggaggcaaacttgt	0.522000													10	106					0	0	0.361761	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963752	73963752	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:73963752C>T	ENST00000373468.1	-	3	1291	c.640G>A	c.(640-642)Gca>Aca	p.A214T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A214T			Q5QGS0	K2022_HUMAN	KIAA2022	214					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.A214T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTCTCCTGCCCTTGACTTA	0.448000													26	108					0	0	0.681144	0	0
CCDC108	255101	broad.mit.edu	37	2	219892628	219892628	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:219892628C>A	ENST00000341552.5	-	13	2038	c.1955G>T	c.(1954-1956)aGt>aTt	p.S652I	CCDC108_ENST00000409865.3_Missense_Mutation_p.S641I|CCDC108_ENST00000453220.1_Missense_Mutation_p.S652I|CCDC108_ENST00000410037.1_Missense_Mutation_p.S587I|CCDC108_ENST00000441968.1_Missense_Mutation_p.S652I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	652						integral to membrane	structural molecule activity	p.S652I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTCTACACTGATGGGCGG	0.612000													9	30					0.0809354	0.0847991	0.387290	1	0
OLFM3	118427	broad.mit.edu	37	1	102270473	102270473	+	Splice_Site	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:102270473T>A	ENST00000370103.4	-	6	913		c.e6-2		OLFM3_ENST00000462354.1_Splice_Site|OLFM3_ENST00000338858.5_Splice_Site|OLFM3_ENST00000536598.1_Splice_Site	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region		p.?(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GTACCAGACCTGAGAAGAAGG	0.353000													13	51					0	0	0.411799	0	0
NETO1	81832	broad.mit.edu	37	18	70451042	70451042	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:70451042T>A	ENST00000327305.6	-	7	1396	c.739A>T	c.(739-741)Aaa>Taa	p.K247*	NETO1_ENST00000299430.2_Nonsense_Mutation_p.K246*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.K247*	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	247	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.K247*(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AACTTAGCTTTCAAATCCTCC	0.468000													33	105					0	0	0.740014	0	0
TAC1	6863	broad.mit.edu	37	7	97362026	97362026	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:97362026G>T	ENST00000319273.5	+	2	399	c.102G>T	c.(100-102)tgG>tgT	p.W34C	TAC1_ENST00000346867.4_Missense_Mutation_p.W34C|TAC1_ENST00000350485.4_Missense_Mutation_p.W34C	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	34					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		p.W34C(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	GGTCCGACTGGTACGACAGCG	0.547000													22	60					1.50039e-11	2.68525e-11	0.608945	1	0
PAK4	10298	broad.mit.edu	37	19	39660361	39660361	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:39660361C>T	ENST00000599386.1	+	3	349	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PAK4_ENST00000593690.1_Silent_p.P56P|PAK4_ENST00000435673.2_Silent_p.P56P|PAK4_ENST00000360442.3_Silent_p.P56P|PAK4_ENST00000358301.3_Silent_p.P56P|PAK4_ENST00000321944.4_Silent_p.P56P|PAK4_ENST00000599470.1_Silent_p.P56P	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	56	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P56P(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TCGTCGACCCCGCCTGCATCA	0.711000													9	23					0	0	0.361761	0	0
PWP1	11137	broad.mit.edu	37	12	108086637	108086637	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:108086637G>T	ENST00000412830.3	+	4	534	c.366G>T	c.(364-366)ggG>ggT	p.G122G	PWP1_ENST00000541166.1_Silent_p.G60G	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	122					transcription, DNA-dependent	nucleus		p.G122G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGGTCTACGGGAGTAATGATC	0.338000													7	71					1.12685e-05	1.49649e-05	0.307466	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76509915	76509915	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:76509915G>C	ENST00000307431.8	+	12	2117	c.1732G>C	c.(1732-1734)Ggt>Cgt	p.G578R	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G530R|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G506R|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G582R|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	579	EGF-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G506R(1)|p.G554R(1)|p.G578R(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAACACTGGTTACAGAGG	0.463000													5	57					0	0	0.278610	0	0
FCN2	2220	broad.mit.edu	37	9	137777622	137777622	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:137777622G>T	ENST00000350339.2	+	5	338	c.324G>T	c.(322-324)caG>caT	p.Q108H	FCN2_ENST00000291744.6_Missense_Mutation_p.Q146H	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	146	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.Q146H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGTTTTCCAGCGGAGGGTGG	0.652000													6	42					8.12818e-05	9.93974e-05	0.248553	1	0
NEDD1	121441	broad.mit.edu	37	12	97313900	97313900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:97313900C>A	ENST00000266742.4	+	6	825	c.486C>A	c.(484-486)aaC>aaA	p.N162K	NEDD1_ENST00000457368.2_Missense_Mutation_p.N73K|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000411739.2_Missense_Mutation_p.N73K|NEDD1_ENST00000557644.1_Missense_Mutation_p.N169K|NEDD1_ENST00000429527.2_Missense_Mutation_p.N162K	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	162					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		p.N162K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATGGTAGTAACCAGGTACAGT	0.323000													13	98					7.93312e-07	1.11761e-06	0.457914	1	0
WWP2	11060	broad.mit.edu	37	16	69964119	69964119	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:69964119G>T	ENST00000359154.2	+	13	1504	c.1403G>T	c.(1402-1404)cGc>cTc	p.R468L	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.R468L|WWP2_ENST00000568684.1_Missense_Mutation_p.R29L|WWP2_ENST00000542271.1_Missense_Mutation_p.R352L|WWP2_ENST00000356003.2_Missense_Mutation_p.R468L	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	468	WW 4.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	p.R468L(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAATACCCGCACCACCACC	0.582000											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	49					0.00136819	0.00157173	0.411799	1	0
RAI2	10742	broad.mit.edu	37	X	17818842	17818842	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:17818842A>T	ENST00000545871.1	-	3	1749	c.1289T>A	c.(1288-1290)aTg>aAg	p.M430K	RAI2_ENST00000415486.3_Missense_Mutation_p.M380K|RAI2_ENST00000360011.1_Missense_Mutation_p.M430K|RAI2_ENST00000451717.1_Missense_Mutation_p.M430K|RAI2_ENST00000331511.1_Missense_Mutation_p.M430K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	430					embryo development			p.M430N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTCGCCCACCATCTCAATGTT	0.547000													6	144					0	0	0.217242	0	0
ABCB5	340273	broad.mit.edu	37	7	20739552	20739552	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:20739552G>T	ENST00000404938.2	+	18	2911	c.2259_splice	c.e18+1	p.Q753_splice	ABCB5_ENST00000258738.6_Splice_Site_p.Q308_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	308	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.Q308H(1)|p.Q753H(1)		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						ATTTCATGCAGGTAAGCTTTT	0.289000													6	32					0.00198382	0.00225409	0.248553	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76350316	76350316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:76350316G>T	ENST00000307431.8	+	3	474	c.89G>T	c.(88-90)tGt>tTt	p.C30F	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.C30F|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.C6F|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.C34F|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	31					cell adhesion|signal transduction	integral to membrane	receptor binding	p.C6F(2)|p.C30F(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAGATGACTGTGATGATCCT	0.468000													8	28					7.48243e-07	1.06855e-06	0.335167	1	0
KIRREL3	84623	broad.mit.edu	37	11	126301280	126301280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:126301280C>A	ENST00000525704.2	-	14	2030	c.1730G>T	c.(1729-1731)gGg>gTg	p.G577V	KIRREL3_ENST00000525144.2_Intron|KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000416561.2_Intron	NM_001161707.1	NP_001155179.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	0					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.G577V(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTTCTCTGTCCCCCTCCCTGA	0.602000													3	10					0.004672	0.00522312	0.115264	1	0
NFIC	4782	broad.mit.edu	37	19	3452574	3452574	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:3452574C>T	ENST00000589123.1	+	8	1272	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	NFIC_ENST00000590282.1_Silent_p.A393A|NFIC_ENST00000443272.2_Silent_p.A393A|NFIC_ENST00000395111.3_Silent_p.A384A|NFIC_ENST00000586919.1_Silent_p.A360A|NFIC_ENST00000346156.5_Silent_p.A360A|NFIC_ENST00000341919.3_Silent_p.A393A	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	393					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A384A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCACACGGCCATCCGCTACC	0.657000													27	118					0	0	0.729181	0	0
PCNX	22990	broad.mit.edu	37	14	71576295	71576295	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:71576295G>T	ENST00000304743.2	+	35	7317	c.6871G>T	c.(6871-6873)Ggc>Tgc	p.G2291C	PCNX_ENST00000238570.5_Missense_Mutation_p.G2219C|PCNX_ENST00000439984.3_Missense_Mutation_p.G2180C|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2291						integral to membrane		p.G2291C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCCGCAGGAGGGCATGGAAGG	0.483000													5	26					2.7689e-08	4.26063e-08	0.248553	1	0
MAST1	22983	broad.mit.edu	37	19	12951814	12951814	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:12951814C>G	ENST00000251472.4	+	3	221	c.182C>G	c.(181-183)cCc>cGc	p.P61R	MAST1_ENST00000591495.1_Missense_Mutation_p.P57R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	61					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P61R(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGCAGCAGTCCCCTGGACAGC	0.602000													7	74					0	0	0.248553	0	0
DOCK10	55619	broad.mit.edu	37	2	225710297	225710297	+	Silent	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:225710297G>A	ENST00000409592.3	-	20	2393	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	DOCK10_ENST00000258390.7_Silent_p.H766H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	766	DHR-1.						GTP binding	p.H766H(1)		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)		CACAGGTGACGTGATAAAAAG	0.408000													19	81					0	0	0.557998	0	0
ZNF548	147694	broad.mit.edu	37	19	57910758	57910758	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:57910758G>T	ENST00000366197.5	+	3	1353	c.1103G>T	c.(1102-1104)aGt>aTt	p.S368I	AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S380I|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S380I(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGAGTGCAGTGTATGTGGG	0.393000													8	44					5.18039e-06	7.01371e-06	0.278610	1	0
FAS	355	broad.mit.edu	37	10	90768652	90768652	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:90768652A>T	ENST00000355740.2	+	4	561	c.341A>T	c.(340-342)gAa>gTa	p.E114V	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.E114V|FAS_ENST00000355279.2_Missense_Mutation_p.E114V|FAS_ENST00000352159.4_Missense_Mutation_p.E114V	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	114					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	p.E114V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CTAGGCTTAGAAGTGGAAATA	0.408000													57	340					0	0	0.870114	0	0
OR51M1	390059	broad.mit.edu	37	11	5410856	5410856	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5410856C>A	ENST00000328611.3	+	1	250	c.228C>A	c.(226-228)tcC>tcA	p.S76S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	76						integral to membrane	olfactory receptor activity	p.S76S(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTACTATCCTTGCTGGCCC	0.468000													22	90					7.45023e-12	1.34491e-11	0.592651	1	0
RAB4A	5867	broad.mit.edu	37	1	229438646	229438646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:229438646G>T	ENST00000366690.4	+	7	787	c.579G>T	c.(577-579)caG>caT	p.Q193H	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	188							GDP binding|GTP binding|GTPase activity	p.Q193H(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CAGGTATTCAGTACGGAGATG	0.502000													15	77					1.52009e-12	2.86823e-12	0.479597	1	0
PCSK5	5125	broad.mit.edu	37	9	78601129	78601129	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:78601129A>G	ENST00000545128.1	+	3	917	c.379A>G	c.(379-381)Aat>Gat	p.N127D	PCSK5_ENST00000376767.3_Missense_Mutation_p.N127D|PCSK5_ENST00000376752.4_Missense_Mutation_p.N127D	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	127	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.N127D(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TACCTATTTCAATGATCCCAA	0.473000													14	67					0	0	0.539581	0	0
MYOM2	9172	broad.mit.edu	37	8	2057201	2057201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:2057201C>A	ENST00000262113.4	+	25	3200	c.3059C>A	c.(3058-3060)tCg>tAg	p.S1020*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.S445*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1020					muscle contraction	myosin filament	structural constituent of muscle	p.S1020*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTCTGAAATCGGAATTAGCT	0.413000													9	34					0.000442599	0.000521367	0.335167	1	0
RASIP1	54922	broad.mit.edu	37	19	49243435	49243435	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:49243435C>T	ENST00000222145.4	-	2	309	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	35					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.L35L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCGCCGCCCCAGCTTCGCCA	0.647000													6	52					0	0	0.278610	0	0
ATP9B	374868	broad.mit.edu	37	18	77133995	77133995	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:77133995G>T	ENST00000426216.2	+	28	3185	c.3168G>T	c.(3166-3168)ctG>ctT	p.L1056L	ATP9B_ENST00000543761.1_Silent_p.L377L|ATP9B_ENST00000307671.7_Silent_p.L1056L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1056					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.L1056L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCGAGCTGCTGATGGTGGCGC	0.597000													3	42					0.00909568	0.00995511	0.150653	1	0
OR2M7	391196	broad.mit.edu	37	1	248487473	248487473	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:248487473G>T	ENST00000317965.2	-	1	426	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T133N(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGATTGGTGTATCTTAG	0.433000													36	178					3.76114e-14	7.43315e-14	0.796494	1	0
CHAMP1	283489	broad.mit.edu	37	13	115091623	115091623	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:115091623G>T	ENST00000361283.1	+	3	2615	c.2306G>T	c.(2305-2307)cGt>cTt	p.R769L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	769	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	p.R769L(1)									AAATGTCCACGTTGTAATTTT	0.363000													15	58					1.5739e-10	2.67884e-10	0.500413	1	0
TTC40	54777	broad.mit.edu	37	10	134664738	134664738	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:134664738C>T	ENST00000368586.5	-	40	5746	c.5646G>A	c.(5644-5646)ctG>ctA	p.L1882L	TTC40_ENST00000263170.5_Silent_p.L43L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	43								p.L43L(1)|p.L1882L(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGAGCATGTCCAGAGCCATTT	0.612000													7	28					0	0	0.248553	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618297	175618297	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:175618297C>T	ENST00000348749.5	-	6	789	c.712G>A	c.(712-714)Gtc>Atc	p.V238I	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V156I|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V238I|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V238I|CHRNA1_ENST00000261007.5_Missense_Mutation_p.V263I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	263					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V263I(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGGATGATGACGTTGACGATG	0.577000													16	83					0	0	0.539581	0	0
PSPH	5723	broad.mit.edu	37	7	56087351	56087351	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:56087351T>A	ENST00000395471.3	-	5	1022	c.217A>T	c.(217-219)Agg>Tgg	p.R73W	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.R73W			P78330	SERB_HUMAN	phosphoserine phosphatase	73					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.R73W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACCTGCTCCCTGGAGGGCTGG	0.607000													5	31					0	0	0.184627	0	0
SIRPG	55423	broad.mit.edu	37	20	1617081	1617081	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:1617081G>T	ENST00000381580.1	-	3	581	c.402C>A	c.(400-402)acC>acA	p.T134T	SIRPG_ENST00000303415.3_Silent_p.T167T|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Silent_p.T167T|SIRPG_ENST00000216927.4_Silent_p.T167T|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	167	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	p.T167T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGGACTCACAGGTGAAACTCA	0.547000													10	42					0.0581538	0.0610834	0.335167	1	0
C12orf42	374470	broad.mit.edu	37	12	103699904	103699904	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:103699904T>A	ENST00000548048.1	-	8	774	c.278A>T	c.(277-279)cAg>cTg	p.Q93L	C12orf42_ENST00000378113.2_Missense_Mutation_p.Q160L|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.Q160L			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	160								p.Q160L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTTCCAAGCCTGCTTGGGTGC	0.493000													10	49					0	0	0.335167	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035123	52035123	+	RNA	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:52035123C>T	ENST00000594959.1	+	0	411				RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593709.1_RNA																							ATCCCCTTATCAAGGTGAATG	0.438000													5	21					0	0	0.217242	0	0
OR5L2	26338	broad.mit.edu	37	11	55595244	55595244	+	Missense_Mutation	SNP	C	C	A	rs142870159		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:55595244C>A	ENST00000378397.1	+	1	550	c.550C>A	c.(550-552)Ctc>Atc	p.L184I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L184I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCTACCCCCTCTCCTAAGTCT	0.463000										HNSCC(27;0.073)			29	200					2.70662e-09	4.40883e-09	0.740014	1	0
LINC01098	285501	broad.mit.edu	37	4	178896990	178896990	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:178896990G>T	ENST00000507870.1	+	5	655	c.193G>T	c.(193-195)Gat>Tat	p.D65Y															p.D65Y(2)		lung(8)|prostate(1)	9						TAGAATGATGGATTGTCATCA	0.418000													18	83					5.35267e-07	7.80441e-07	0.557998	1	0
NRCAM	4897	broad.mit.edu	37	7	107871486	107871486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:107871486C>T	ENST00000379028.3	-	8	1009	c.539G>A	c.(538-540)tGg>tAg	p.W180*	NRCAM_ENST00000379024.4_Nonsense_Mutation_p.W180*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.W174*|NRCAM_ENST00000425651.2_Nonsense_Mutation_p.W180*|NRCAM_ENST00000379022.4_Nonsense_Mutation_p.W180*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.W180*			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	180	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.W174*(1)|p.W180*(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTATCCATCCAAAATATTAT	0.323000													4	56					0	0	0.150653	0	0
INSL5	10022	broad.mit.edu	37	1	67263820	67263820	+	Missense_Mutation	SNP	C	C	A	rs144286383		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:67263820C>A	ENST00000304526.2	-	2	318	c.284G>T	c.(283-285)gGt>gTt	p.G95V		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	95						extracellular region	hormone activity	p.G95V(1)		breast(2)|endometrium(1)|lung(5)	8						CATCTGTCCACCCCAAAGACG	0.478000													11	76					5.16669e-11	9.01468e-11	0.387290	1	0
OLFM1	10439	broad.mit.edu	37	9	138011774	138011774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:138011774G>T	ENST00000252854.4	+	6	1341	c.1154G>T	c.(1153-1155)gGg>gTg	p.G385V	OLFM1_ENST00000371793.3_Missense_Mutation_p.G403V|OLFM1_ENST00000371796.3_Missense_Mutation_p.G376V	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	403	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CGCAGCGCCGGGGAGGCCTTC	0.602000													4	34					0.150653	0.154735	0.150653	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926762	130926762	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:130926762A>T	ENST00000261655.4	-	8	1247	c.1084T>A	c.(1084-1086)Tgc>Agc	p.C362S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.C270S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.C270S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	362	Fibronectin type-III 1.					cell junction|synapse		p.C362S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGTAGGTGCAGGCTGCCATG	0.622000													5	45					0	0	0.184627	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33959006	33959006	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:33959006C>T	ENST00000361328.3	+	7	1817	c.1664C>T	c.(1663-1665)cCa>cTa	p.P555L		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	555					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P555L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGCAGCCACCCACCAGGGACA	0.602000													4	69					0	0	0.150653	0	0
CORO1A	11151	broad.mit.edu	37	16	30198005	30198005	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:30198005C>T	ENST00000219150.5	+	3	590	c.285C>T	c.(283-285)aaC>aaT	p.N95N	CORO1A_ENST00000570045.1_Silent_p.N95N|CORO1A_ENST00000565497.1_Silent_p.N95N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	95					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	p.N95N(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACAATGACAACGTCATTGCCA	0.602000													5	16					0	0	0.184627	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701647	56701647	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:56701647C>T	ENST00000586855.2	-	5	1350	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.G346D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	346					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G346D(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTTCTTGGCCATCTGGGTG	0.547000													17	94					0	0	0.557998	0	0
SORCS1	114815	broad.mit.edu	37	10	108448049	108448049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:108448049G>T	ENST00000263054.6	-	10	1468	c.1461C>A	c.(1459-1461)aaC>aaA	p.N487K	SORCS1_ENST00000344440.6_Missense_Mutation_p.N487K|SORCS1_ENST00000369698.1_Missense_Mutation_p.N22K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	487				N -> Y (in Ref. 1; AAL56667).		integral to membrane	neuropeptide receptor activity|protein binding	p.N487K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCTTCACTTGGTTGTCAATCT	0.463000													10	88					9.70103e-10	1.61168e-09	0.361761	1	0
MYH3	4621	broad.mit.edu	37	17	10543658	10543658	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:10543658C>G	ENST00000583535.1	-	21	2505	c.2418G>C	c.(2416-2418)gtG>gtC	p.V806V	MYH3_ENST00000226209.7_Silent_p.V806V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	806	IQ.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V806V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTCCTCTGCACCATCTTCT	0.522000													6	65					0	0	0.248553	0	0
DBN1	1627	broad.mit.edu	37	5	176887645	176887645	+	Splice_Site	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:176887645C>T	ENST00000292385.5	-	10	1446	c.837_splice	c.e10+1	p.E279_splice	DBN1_ENST00000393563.4_Splice_Site_p.E9_splice|DBN1_ENST00000309007.5_Splice_Site_p.E277_splice|DBN1_ENST00000393565.1_Splice_Site_p.E277_splice|DBN1_ENST00000512501.1_Splice_Site_p.E9_splice	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	277					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	p.E277E(1)|p.E279E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			CAGCTCTCACCTCCACCTCCG	0.607000													5	39					0	0	0.217242	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708435	12708435	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:12708435C>A	ENST00000380682.1	+	8	1309	c.803C>A	c.(802-804)aCt>aAt	p.T268N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	268	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.T258N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACAGGAGACTCTAACTCAG	0.502000													18	82					9.7654e-05	0.000119069	0.557998	1	0
PARP4	143	broad.mit.edu	37	13	25060347	25060347	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:25060347C>A	ENST00000381989.3	-	11	1416	c.1311G>T	c.(1309-1311)ttG>ttT	p.L437F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	437	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.L437F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGAACCATGCAACAAGGGCC	0.403000													13	64					7.03913e-09	1.12035e-08	0.411799	1	0
SELL	6402	broad.mit.edu	37	1	169670773	169670773	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:169670773G>A	ENST00000236147.4	-	7	1208	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	337					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	p.P337S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					ACTGCCACTGGAATGAAGAGG	0.403000													4	11					0	0	0.150653	0	0
MMP2	4313	broad.mit.edu	37	16	55519270	55519270	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:55519270C>A	ENST00000219070.4	+	4	1098	c.589C>A	c.(589-591)Cca>Aca	p.P197T	MMP2_ENST00000437642.2_Missense_Mutation_p.P147T|MMP2_ENST00000570308.1_Missense_Mutation_p.P121T|MMP2_ENST00000543485.1_Missense_Mutation_p.P121T	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	197	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.P197T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCCTTCGCCCCAGGCACTGG	0.577000													14	90					0.000422831	0.000499492	0.500413	1	0
MDGA2	161357	broad.mit.edu	37	14	47530708	47530708	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:47530708C>T	ENST00000426342.1	-	7	1121	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MDGA2_ENST00000357362.3_Silent_p.E125E|MDGA2_ENST00000439988.2_Silent_p.E354E|MDGA2_ENST00000399232.2_Silent_p.E423E	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	354	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.E125E(2)|p.E423E(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATATTTTCACCTCACGGCCAA	0.388000													9	57					0	0	0.307466	0	0
OR52N4	390072	broad.mit.edu	37	11	5776693	5776693	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5776693T>C	ENST00000317254.3	+	1	771	c.723T>C	c.(721-723)aaT>aaC	p.N241N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N241N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGGCCTTTAATACCTGCACTG	0.493000													15	138					0	0	0.457914	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960764	51960764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:51960764C>A	ENST00000321424.3	-	2	750	c.684G>T	c.(682-684)ttG>ttT	p.L228F	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	228	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L228F(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTGTCCCAGGCAAGGTCACCT	0.647000													5	15					5.9392e-07	8.56971e-07	0.217242	1	0
LILRP2	79166	broad.mit.edu	37	19	55220481	55220481	+	RNA	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:55220481C>G	ENST00000413439.1	+	0	619																											CCTGGATACCCAGGGTTACTA	0.587000													3	10					0	0	0.115264	0	0
PUM1	9698	broad.mit.edu	37	1	31426788	31426788	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:31426788A>G	ENST00000373747.3	-	15	2466	c.2367T>C	c.(2365-2367)gcT>gcC	p.A789A	PUM1_ENST00000373742.2_Silent_p.A729A|PUM1_ENST00000440538.2_Silent_p.A762A|PUM1_ENST00000257075.5_Silent_p.A788A|PUM1_ENST00000426105.2_Silent_p.A788A|PUM1_ENST00000424085.2_Silent_p.A546A|PUM1_ENST00000423018.2_Silent_p.A644A|PUM1_ENST00000373741.4_Silent_p.A824A	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	788	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	p.A788A(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCGCCTGGAGCAGCAGAGA	0.507000													15	107					0	0	0.479597	0	0
KLHL30	377007	broad.mit.edu	37	2	239049495	239049495	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:239049495G>T	ENST00000409223.1	+	2	207	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	KLHL30_ENST00000305959.4_Missense_Mutation_p.D16Y			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	34	BTB.							p.D34Y(2)		lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAAGCTGGCCGACGTCACACT	0.667000													5	28					0.184627	0.186868	0.184627	1	0
TTLL8	164714	broad.mit.edu	37	22	50470524	50470524	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr22:50470524C>A	ENST00000266182.6	-	11	1297	c.1298G>T	c.(1297-1299)tGc>tTc	p.C433F	TTLL8_ENST00000440475.1_Missense_Mutation_p.C413F					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GGCGTTGTTGCACAGGTGGAT	0.662000													4	86					0.184627	0.186868	0.184627	1	0
SLC26A3	1811	broad.mit.edu	37	7	107427872	107427872	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:107427872G>T	ENST00000340010.5	-	7	1002	c.818C>A	c.(817-819)tCc>tAc	p.S273Y	SLC26A3_ENST00000422236.2_Missense_Mutation_p.S238Y	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	273					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.S273Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTTAACAATGGATACAACCAA	0.348000													30	158					5.45727e-16	1.11009e-15	0.729181	1	0
POT1	25913	broad.mit.edu	37	7	124503540	124503540	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:124503540C>A	ENST00000357628.3	-	8	1008	c.410G>T	c.(409-411)cGt>cTt	p.R137L	POT1_ENST00000393329.1_Missense_Mutation_p.R6L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	137					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.R137L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGCCCAAACACGTAAGGCTTC	0.438000													51	114					9.57592e-29	2.10166e-28	0.870114	1	0
ACCSL	390110	broad.mit.edu	37	11	44069676	44069676	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:44069676G>T	ENST00000378832.1	+	1	146	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	30							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.L30F(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCCAGCTGTTGGAGATAACGC	0.597000													5	49					0.014758	0.0159432	0.184627	1	0
XYLT1	64131	broad.mit.edu	37	16	17235204	17235204	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:17235204C>A	ENST00000261381.6	-	7	1477	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	465					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.D465Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGAGCCGATCCAGGCCCTGC	0.587000													12	46					0.00185496	0.00212505	0.435327	1	0
MYT1	4661	broad.mit.edu	37	20	62839561	62839561	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:62839561C>T	ENST00000536311.1	+	7	1376	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.P338S			Q01538	MYT1_HUMAN	myelin transcription factor 1	338					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P338S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGTCCCAAGCCTGAGTACTC	0.582000													19	84					0	0	0.592651	0	0
LPIN1	23175	broad.mit.edu	37	2	11922600	11922600	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:11922600G>T	ENST00000256720.2	+	7	1216	c.1123G>T	c.(1123-1125)Gca>Tca	p.A375S	LPIN1_ENST00000449576.2_Missense_Mutation_p.A460S|LPIN1_ENST00000396097.1_Missense_Mutation_p.A105S|LPIN1_ENST00000396098.1_Missense_Mutation_p.A417S|LPIN1_ENST00000425416.2_Missense_Mutation_p.A381S|LPIN1_ENST00000396099.1_Missense_Mutation_p.A417S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	375					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.A375S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGTCCAGACAGCAAACAAGAC	0.522000													9	45					2.17888e-05	2.82171e-05	0.335167	1	0
OR10J3	441911	broad.mit.edu	37	1	159283954	159283954	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:159283954C>A	ENST00000332217.5	-	1	495	c.496G>T	c.(496-498)Ggc>Tgc	p.G166C		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G166C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATGGCAGGCCAAACACAGAT	0.502000													6	24					0.0215528	0.0230449	0.217242	1	0
ANKRD12	23253	broad.mit.edu	37	18	9257679	9257679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:9257679G>T	ENST00000383440.2	+	8	4602	c.4345G>T	c.(4345-4347)Gaa>Taa	p.E1449*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1449*|ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.E1472*	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1472						nucleus		p.E1472*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GCGCCAGACTGAACTGCCAGG	0.428000													12	45					1.08611e-07	1.62916e-07	0.387290	1	0
PRUNE2	158471	broad.mit.edu	37	9	79321909	79321909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:79321909G>T	ENST00000428286.1	-	8	5404	c.4204C>A	c.(4204-4206)Caa>Aaa	p.Q1402K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.Q1761K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1761					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.Q1761K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTGCTTTGTTGATTGTCA	0.448000													5	46					8.12818e-05	9.93974e-05	0.248553	1	0
PACS1	55690	broad.mit.edu	37	11	65988115	65988115	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:65988115T>C	ENST00000320580.4	+	9	1085	c.1052T>C	c.(1051-1053)cTg>cCg	p.L351P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	351					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.L351P(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GGCTTTGGGCTGGAGCATGTG	0.527000													6	44					0	0	0.248553	0	0
DCDC1	341019	broad.mit.edu	37	11	30932927	30932927	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:30932927C>A	ENST00000597505.1	-	26	3693	c.3694G>T	c.(3694-3696)Gtg>Ttg	p.V1232L	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.V311L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.V311L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTCATAGACACTGCCAGCACA	0.403000													5	8					0.184627	0.186868	0.184627	1	0
ACVR1B	91	broad.mit.edu	37	12	52377917	52377917	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:52377917G>A	ENST00000257963.4	+	5	1023	c.946G>A	c.(946-948)Gca>Aca	p.A316T	ACVR1B_ENST00000542485.1_Missense_Mutation_p.A264T|ACVR1B_ENST00000541224.1_Missense_Mutation_p.A357T|ACVR1B_ENST00000426655.2_Missense_Mutation_p.A316T|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000415850.2_Missense_Mutation_p.A316T	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	316	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	p.A357T(1)|p.A316T(1)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TAGTGGGCTGGCACACCTGCA	0.542000													4	25					0	0	0.184627	0	0
PRPF40A	55660	broad.mit.edu	37	2	153535966	153535966	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:153535966G>T	ENST00000410080.1	-	7	1018	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	186	WW 1.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.P159P(1)|p.P55P(1)|p.P186P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATTCCTTCCAGGGGCATTTAG	0.328000													5	21					1.23904e-05	1.61969e-05	0.184627	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507107	74507107	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:74507107A>T	ENST00000354431.4	-	7	1699	c.1508T>A	c.(1507-1509)cTg>cAg	p.L503Q	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L503Q	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	503								p.L503Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTAGAAACAGAGCTTTTCT	0.333000													20	163					0	0	0.575678	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379988	379988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:379988G>T	ENST00000329962.6	+	16	2611	c.2611G>T	c.(2611-2613)Gag>Tag	p.E871*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	871						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.E871*(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TATGGACGTGGAGCGGGCCCT	0.682000													6	40					1.06961e-07	1.61021e-07	0.278610	1	0
COL1A2	1278	broad.mit.edu	37	7	94057003	94057003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:94057003G>T	ENST00000297268.6	+	49	3803	c.3332G>T	c.(3331-3333)gGt>gTt	p.G1111V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1111					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G1111V(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TATGACTTTGGTTACGATGGA	0.537000										HNSCC(75;0.22)			29	75					2.24059e-21	4.76698e-21	0.706142	1	0
OR51I2	390064	broad.mit.edu	37	11	5475122	5475122	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5475122T>A	ENST00000341449.2	+	1	485	c.404T>A	c.(403-405)gTg>gAg	p.V135E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V135E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGCAACTGTGCTCACCACT	0.473000													21	103					0	0	0.624587	0	0
SC5D	6309	broad.mit.edu	37	11	121177914	121177914	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:121177914A>T	ENST00000264027.4	+	5	967	c.593A>T	c.(592-594)tAc>tTc	p.Y198F	SC5D_ENST00000528991.1_3'UTR|SC5D_ENST00000392789.2_Missense_Mutation_p.Y198F|SC5D_ENST00000534230.1_Missense_Mutation_p.Y198F	NM_006918.4	NP_008849.2			sterol-C5-desaturase																		TTAAGTCTGTACATCTTGGTT	0.378000													6	166					0	0	0.248553	0	0
TOP3A	7156	broad.mit.edu	37	17	18196026	18196026	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:18196026C>A	ENST00000321105.5	-	11	1428	c.1214G>T	c.(1213-1215)cGc>cTc	p.R405L	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.R310L	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	405					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	p.R405L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTCCCATTGCGTGGGGTGGG	0.562000													11	52					0.000673444	0.000784431	0.361761	1	0
BMPR2	659	broad.mit.edu	37	2	203407114	203407114	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:203407114G>T	ENST00000374580.4	+	10	1896	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	BMPR2_ENST00000374574.2_Missense_Mutation_p.V453L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	453	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	p.V453L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCAGGTTCTCGTGTCTAGGGA	0.423000													11	62					9.70103e-10	1.61168e-09	0.361761	1	0
CILP	8483	broad.mit.edu	37	15	65489472	65489472	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:65489472G>A	ENST00000261883.4	-	9	3318	c.3152C>T	c.(3151-3153)cCa>cTa	p.P1051L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1051					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.P1051L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACTGCAAGTGGCAAGTGGTT	0.592000													7	54					0	0	0.248553	0	0
SCN3B	55800	broad.mit.edu	37	11	123513202	123513202	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:123513202G>T	ENST00000392770.2	-	3	1199	c.397C>A	c.(397-399)Ccc>Acc	p.P133T	SCN3B_ENST00000299333.3_Missense_Mutation_p.P133T|SCN3B_ENST00000530277.1_Missense_Mutation_p.P133T	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	133	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.P133T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TTCACAAAGGGCCGATGCGCC	0.597000													16	33					6.72482e-11	1.15878e-10	0.479597	1	0
COL17A1	1308	broad.mit.edu	37	10	105794442	105794442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:105794442G>T	ENST00000353479.5	-	51	3993	c.3703C>A	c.(3703-3705)Ctg>Atg	p.L1235M	COL17A1_ENST00000369733.3_Missense_Mutation_p.L1153M	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1235	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.L1235M(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAGGTTGCCAGGGCTCCTGAG	0.652000													6	16					5.9392e-07	8.56971e-07	0.217242	1	0
IFNL1	282618	broad.mit.edu	37	19	39788642	39788642	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:39788642C>A	ENST00000333625.2	+	3	385	c.288C>A	c.(286-288)gcC>gcA	p.A96A		NM_172140.1	NP_742152.1			interferon, lambda 1									p.A96A(1)									CTGAGCTGGCCCTGACGCTGA	0.642000													5	48					8.12818e-05	9.93974e-05	0.248553	1	0
SIMC1	375484	broad.mit.edu	37	5	175716732	175716732	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:175716732A>G	ENST00000443967.1	+	4	555	c.148A>G	c.(148-150)Aga>Gga	p.R50G	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R69G|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR					SUMO-interacting motifs containing 1									p.R50G(1)									TGACCTGACAAGAGCTGAGGG	0.448000													5	14					0	0	0.184627	0	0
TMTC1	83857	broad.mit.edu	37	12	29670372	29670372	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:29670372G>T	ENST00000256062.5	-	14	2306	c.1833C>A	c.(1831-1833)ctC>ctA	p.L611L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.L719L|TMTC1_ENST00000552618.1_Silent_p.L743L|TMTC1_ENST00000551659.1_Silent_p.L781L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	719						integral to membrane	binding	p.L611L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTGCCAAGCGGAGCTCCCTCT	0.517000													12	92					7.03913e-09	1.12035e-08	0.411799	1	0
ITGAD	3681	broad.mit.edu	37	16	31422734	31422734	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:31422734C>A	ENST00000389202.2	+	14	1652	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	535					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.L535M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGGACAAGCTGATAGACGT	0.637000													23	181					2.21704e-12	4.10891e-12	0.639603	1	0
KIAA2022	340533	broad.mit.edu	37	X	73961404	73961404	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:73961404C>A	ENST00000373468.1	-	3	3639	c.2988G>T	c.(2986-2988)atG>atT	p.M996I	KIAA2022_ENST00000055682.5_Missense_Mutation_p.M996I			Q5QGS0	K2022_HUMAN	KIAA2022	996					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.M996I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGTGGGGCCATTGAATCAA	0.438000													14	48					2.61681e-11	4.64345e-11	0.457914	1	0
SYT3	84258	broad.mit.edu	37	19	51135639	51135639	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:51135639C>A	ENST00000338916.4	-	2	1211	c.578G>T	c.(577-579)gGa>gTa	p.G193V	SYT3_ENST00000600079.1_Missense_Mutation_p.G193V|SYT3_ENST00000593901.1_Missense_Mutation_p.G193V|SYT3_ENST00000544769.1_Missense_Mutation_p.G193V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	193						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G193V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGAGCCTGCTCCCCCCTCAGA	0.637000													8	38					1.06961e-07	1.61021e-07	0.278610	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896252	151896252	+	RNA	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:151896252C>T	ENST00000361201.4	-	0	478					NR_073432.1															endometrium(2)|kidney(2)|lung(1)	5						CCACTCCATTCCTCAGGTTTT	0.522000													11	41					0	0	0.435327	0	0
GRM5	2915	broad.mit.edu	37	11	88300971	88300971	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:88300971A>T	ENST00000418177.2	-	8	2247	c.1880T>A	c.(1879-1881)cTg>cAg	p.L627Q	GRM5_ENST00000305432.5_Missense_Mutation_p.L627Q|GRM5_ENST00000455756.2_Missense_Mutation_p.L627Q|GRM5_ENST00000393297.1_Missense_Mutation_p.L627Q|GRM5_ENST00000305447.4_Missense_Mutation_p.L627Q			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	627					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	p.L627Q(2)		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)	TAAGTAGCCCAGGCAGATGCC	0.473000													6	26					0	0	0.278610	0	0
SNX18	112574	broad.mit.edu	37	5	53815085	53815085	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:53815085A>T	ENST00000343017.6	+	1	1497	c.1303A>T	c.(1303-1305)Acc>Tcc	p.T435S	SNX18_ENST00000381410.4_Missense_Mutation_p.T435S|SNX18_ENST00000326277.3_Missense_Mutation_p.T435S	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	435	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.T435S(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CAAGTGCTTCACCAAGAAGAT	0.607000													4	35					0	0	0.150653	0	0
SPTA1	6708	broad.mit.edu	37	1	158592830	158592830	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:158592830C>A	ENST00000368148.3	-	43	6243	c.6063G>T	c.(6061-6063)ctG>ctT	p.L2021L	SPTA1_ENST00000368147.3_Silent_p.L2018L|SPTA1_ENST00000461624.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2021					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	p.L2021L(1)		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)					CCGAGGCTTCCAGCAACTGTT	0.468000													55	261					1.46156e-29	3.22471e-29	0.870114	1	0
DMD	1756	broad.mit.edu	37	X	32503071	32503071	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:32503071G>T	ENST00000357033.4	-	21	2974	c.2768C>A	c.(2767-2769)tCt>tAt	p.S923Y	DMD_ENST00000378677.2_Missense_Mutation_p.S919Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	923					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.S918Y(1)|p.S919Y(1)|p.S923Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCACATCAGAAAAGACTTG	0.388000													3	42					0.115264	0.118679	0.115264	1	0
PRELP	5549	broad.mit.edu	37	1	203453067	203453067	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:203453067A>G	ENST00000343110.2	+	2	882	c.755A>G	c.(754-756)aAc>aGc	p.N252S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	252					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.N252S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGGACAGTAACAAGATTGAG	0.532000													18	106					0	0	0.575678	0	0
PPM1E	22843	broad.mit.edu	37	17	57050271	57050271	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:57050271G>C	ENST00000308249.2	+	6	1324	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	408	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.V399L(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTCTGTCGGTTTCCAGAGC	0.433000													14	64					0	0	0.479597	0	0
ABCC5	10057	broad.mit.edu	37	3	183689508	183689508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:183689508C>A	ENST00000334444.6	-	11	1844	c.1604G>T	c.(1603-1605)cGc>cTc	p.R535L	ABCC5_ENST00000265586.6_Missense_Mutation_p.R535L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	535						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R535L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCTCAGTGCGCTGCAGCTG	0.582000													16	38					2.4624e-09	4.02674e-09	0.575678	1	0
SPTBN4	57731	broad.mit.edu	37	19	41063082	41063082	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:41063082G>A	ENST00000352632.3	+	26	5529	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T	SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1815T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A558T|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A491T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1815T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1815T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1815					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A491T(1)|p.A1815T(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAACGAGGCCTGGGCTGA	0.632000													6	25					0	0	0.278610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427385	25427385	+	RNA	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:25427385C>A	ENST00000424208.1	+	0	182					NR_003305.1																						CCCAATGGCCCCAGGTCAGCG	0.597000													4	11					0.184627	0.186868	0.184627	1	0
CERKL	375298	broad.mit.edu	37	2	182412572	182412572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:182412572C>A	ENST00000410087.3	-	9	1236	c.1136G>T	c.(1135-1137)aGg>aTg	p.R379M	CERKL_ENST00000374970.2_Missense_Mutation_p.R310M|CERKL_ENST00000339098.5_Missense_Mutation_p.R405M|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R361M|CERKL_ENST00000374969.2_Missense_Mutation_p.R266M	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	405					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R405M(1)|p.R379M(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCCTGTGCCCTCCTAAAAGA	0.393000													29	187					7.26314e-15	1.45612e-14	0.717897	1	0
OR5K3	403277	broad.mit.edu	37	3	98109906	98109906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:98109906C>A	ENST00000383695.1	+	1	397	c.397C>A	c.(397-399)Cac>Aac	p.H133N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H133N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTGCAGTACCACACCATGAT	0.468000													51	84					1.91693e-13	3.73532e-13	0.870114	1	0
HIPK1	204851	broad.mit.edu	37	1	114505013	114505013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:114505013G>C	ENST00000369558.1	+	9	2288	c.2056G>C	c.(2056-2058)Gca>Cca	p.A686P	HIPK1_ENST00000426820.2_Missense_Mutation_p.A686P|HIPK1_ENST00000369553.1_Missense_Mutation_p.A292P|HIPK1_ENST00000369559.4_Missense_Mutation_p.A686P|HIPK1_ENST00000369555.2_Missense_Mutation_p.A686P|HIPK1_ENST00000369554.2_Missense_Mutation_p.A686P|HIPK1_ENST00000406344.1_Missense_Mutation_p.A292P|HIPK1_ENST00000369561.4_Missense_Mutation_p.A652P|HIPK1_ENST00000340480.4_Missense_Mutation_p.A312P			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.A686P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACCCCAGGCACCAGCTGC	0.443000													13	48					0	0	0.411799	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177129	89177129	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:89177129G>T	ENST00000561129.2	+	1	175	c.45G>T	c.(43-45)gtG>gtT	p.V15V	TGIF2LX_ENST00000283891.5_Silent_p.V15V			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V15V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAAGCCCGGTGGAAAAAGACA	0.527000													4	27					0.184627	0.186868	0.184627	1	0
GSDMD	79792	broad.mit.edu	37	8	144641996	144641996	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:144641996G>C	ENST00000526406.1	+	6	1150	c.267G>C	c.(265-267)caG>caC	p.Q89H	GSDMD_ENST00000533063.1_Missense_Mutation_p.Q137H|GSDMD_ENST00000262580.4_Missense_Mutation_p.Q89H	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	89								p.Q89H(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGGATGGGCAGATACAGGGCA	0.642000													4	23					0	0	0.217242	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543134	133543134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:133543134G>T	ENST00000409261.1	-	14	1623	c.1250C>A	c.(1249-1251)cCc>cAc	p.P417H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.P417H|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	417							protein binding	p.P417Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CACTGATGGGGGTTCAAGTAA	0.408000													14	86					1.15088e-07	1.70789e-07	0.500413	1	0
PLBD2	196463	broad.mit.edu	37	12	113812724	113812724	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:113812724C>T	ENST00000280800.3	+	5	802	c.771C>T	c.(769-771)ctC>ctT	p.L257L	PLBD2_ENST00000545182.2_Silent_p.L257L|PLBD2_ENST00000547163.1_3'UTR	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	257					lipid catabolic process	lysosomal lumen	hydrolase activity	p.L257L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGAGTGACCTCCTGGTTGCCC	0.577000													12	53					0	0	0.435327	0	0
SAMD9	54809	broad.mit.edu	37	7	92733294	92733294	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:92733294A>T	ENST00000379958.2	-	3	2386	c.2117T>A	c.(2116-2118)gTc>gAc	p.V706D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	706						cytoplasm		p.V706D(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCTTTTGACAAAAGGTGA	0.358000													56	145					0	0	0.870114	0	0
CCDC122	160857	broad.mit.edu	37	13	44411449	44411449	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:44411449G>T	ENST00000444614.3	-	7	1047	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	263								p.E264K(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTCTTAATTCGGCTGCAGTTT	0.383000													6	71					0.00116845	0.00134597	0.217242	1	0
KRT20	54474	broad.mit.edu	37	17	39034618	39034618	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:39034618C>A	ENST00000167588.3	-	6	960		c.e6-1			NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20						apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	p.?(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AAGACTCTTTCTATGAGCACA	0.468000													7	61					0.0381472	0.0404768	0.278610	1	0
GPR55	9290	broad.mit.edu	37	2	231774831	231774831	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:231774831G>T	ENST00000392040.1	-	2	1039	c.847C>A	c.(847-849)Ctg>Atg	p.L283M	GPR55_ENST00000392039.2_Missense_Mutation_p.L283M	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	283					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.L283M(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AAAACATCCAGGCAGCAGTTG	0.507000													15	81					3.45872e-05	4.4515e-05	0.500413	1	0
GBA3	57733	broad.mit.edu	37	4	22749245	22749245	+	RNA	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:22749245T>C	ENST00000511446.1	+	0	616				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	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	p.W205R(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCCAGATCCTGGCACAGCTA	0.453000													26	115					0	0	0.693898	0	0
DYSF	8291	broad.mit.edu	37	2	71753445	71753445	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:71753445G>C	ENST00000258104.3	+	12	1426	c.1149G>C	c.(1147-1149)ctG>ctC	p.L383L	DYSF_ENST00000394120.2_Silent_p.L384L|DYSF_ENST00000409651.1_Silent_p.L415L|DYSF_ENST00000413539.2_Silent_p.L414L|DYSF_ENST00000409366.1_Silent_p.L384L|DYSF_ENST00000409582.3_Silent_p.L414L|DYSF_ENST00000410020.3_Silent_p.L415L|DYSF_ENST00000409762.1_Silent_p.L414L|DYSF_ENST00000410041.1_Silent_p.L415L|DYSF_ENST00000409744.1_Silent_p.L384L|DYSF_ENST00000429174.2_Silent_p.L383L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	383	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L383L(1)|p.L415L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACTTCTGCCTGAAGGTCTTCC	0.657000													28	151					0	0	0.729181	0	0
NRG3	10718	broad.mit.edu	37	10	84745264	84745264	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:84745264C>A	ENST00000372142.2	+	11	1677	c.1403C>A	c.(1402-1404)aCa>aAa	p.T468K	NRG3_ENST00000404547.1_Missense_Mutation_p.T689K|NRG3_ENST00000404576.2_Missense_Mutation_p.T469K|NRG3_ENST00000372141.2_Missense_Mutation_p.T665K|NRG3_ENST00000537893.1_Missense_Mutation_p.T315K|NRG3_ENST00000545131.1_Missense_Mutation_p.T315K|NRG3_ENST00000556918.1_Missense_Mutation_p.T495K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	689					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T468K(1)|p.T665K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCGAAAACACAGCCTTTCTC	0.488000													8	47					0.000157383	0.000189132	0.278610	1	0
PDE3A	5139	broad.mit.edu	37	12	20522824	20522824	+	Silent	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:20522824A>T	ENST00000359062.3	+	1	646	c.606A>T	c.(604-606)acA>acT	p.T202T	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	202					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.T202T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCGCCGCGACATGGCTGGTGC	0.652000													4	23					0	0	0.184627	0	0
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:130872806T>C	ENST00000357462.5	-	2	710	c.617A>G	c.(616-618)aAg>aGg	p.K206R	POTEF_ENST00000360967.5_Missense_Mutation_p.K206R|POTEF_ENST00000409914.2_Missense_Mutation_p.K206R|POTEF_ENST00000361163.4_Missense_Mutation_p.K206R			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206						cell cortex	ATP binding	p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403000													10	80					0	0	0.479597	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98799743	98799743	+	Splice_Site	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:98799743A>T	ENST00000453547.2	-	31	3574		c.e31+1		SLIT1_ENST00000371070.4_Splice_Site|SLIT1_ENST00000266058.4_Splice_Site														p.?(1)									TGAGCTACTCACAGTTCTGTG	0.642000													8	43					0	0	0.335167	0	0
MRC2	9902	broad.mit.edu	37	17	60754845	60754845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:60754845A>T	ENST00000303375.5	+	12	2452	c.2050A>T	c.(2050-2052)Aag>Tag	p.K684*		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	684	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.K684*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTATTGCTATAAGGTAGGGCA	0.642000													3	21					0	0	0.150653	0	0
VPS13A	23230	broad.mit.edu	37	9	79933209	79933209	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:79933209A>C	ENST00000360280.3	+	41	5275	c.5015A>C	c.(5014-5016)aAg>aCg	p.K1672T	VPS13A_ENST00000376634.4_Missense_Mutation_p.K1672T|VPS13A_ENST00000376636.3_Missense_Mutation_p.K1633T|VPS13A_ENST00000357409.5_Missense_Mutation_p.K1672T|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1672					Golgi to endosome transport|protein transport	intracellular	protein binding	p.K1672T(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATACAACTAAGGAAACCATC	0.308000													16	87					0	0	0.539581	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027589	150027589	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:150027589A>G	ENST00000343855.4	+	1	652	c.96A>G	c.(94-96)acA>acG	p.T32T	LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like									p.T32T(1)									AGGTTCACACACACTTTCAGG	0.642000													36	162					0	0	0.819951	0	0
ZNF778	197320	broad.mit.edu	37	16	89293777	89293777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:89293777G>T	ENST00000433976.2	+	6	1329	c.997G>T	c.(997-999)Gga>Tga	p.G333*	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Nonsense_Mutation_p.G291*	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G333*(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AACAGACCCTGGACAGAAGCC	0.468000													15	91					6.72482e-11	1.15878e-10	0.479597	1	0
ZIK1	284307	broad.mit.edu	37	19	58101972	58101972	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:58101972A>G	ENST00000597850.1	+	4	1008	c.793A>G	c.(793-795)Agg>Ggg	p.R265G	ZIK1_ENST00000536878.2_Missense_Mutation_p.R252G|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.R210G	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R265G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTGGAGAAAGGCCTTGGGA	0.468000													5	37					0	0	0.184627	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073661	60073661	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:60073661G>T	ENST00000355131.3	+	7	801	c.578G>T	c.(577-579)tGt>tTt	p.C193F	MS4A4A_ENST00000532114.1_Missense_Mutation_p.C159F|MS4A4A_ENST00000337908.4_Missense_Mutation_p.C212F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.C193F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	212						integral to membrane	receptor activity	p.C193F(1)|p.C212F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GTGCTCTGTTGTACCCCTGGT	0.453000													12	83					7.93312e-07	1.11761e-06	0.457914	1	0
ZNF292	23036	broad.mit.edu	37	6	87967002	87967002	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:87967002G>T	ENST00000369577.3	+	8	3698	c.3655G>T	c.(3655-3657)Gat>Tat	p.D1219Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.D1214Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1074Y(1)|p.D1219Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTTCTCAGGATAAAAATGA	0.398000													11	15					1.58986e-06	2.19528e-06	0.361761	1	0
XPO5	57510	broad.mit.edu	37	6	43538667	43538667	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:43538667T>A	ENST00000265351.7	-	4	575	c.365A>T	c.(364-366)gAa>gTa	p.E122V		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	122					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	p.E122V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTTGATCATTTCCACTACAAT	0.398000													43	97					0	0	0.847076	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:187712479G>T	ENST00000295131.2	-	2	248	c.209C>A	c.(208-210)cCg>cAg	p.P70Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348000													10	93					5.16669e-11	9.01468e-11	0.387290	1	0
TRUB1	142940	broad.mit.edu	37	10	116698036	116698036	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:116698036G>T	ENST00000298746.3	+	1	85	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	8					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.V8V(1)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGGCGGCGGTGGTGTCTTCGC	0.587000													3	27					6.4e-05	8.01618e-05	0.115264	1	0
SLC23A1	9963	broad.mit.edu	37	5	138713677	138713677	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:138713677G>T	ENST00000353963.3	-	12	1490	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SLC23A1_ENST00000348729.3_Silent_p.G480G	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	480					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.G484G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TATTGATGGCGCCAGGGTTGG	0.547000													3	13					6.4e-05	8.01618e-05	0.115264	1	0
C7orf62	219557	broad.mit.edu	37	7	88424136	88424136	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:88424136G>T	ENST00000297203.2	-	2	306	c.121C>A	c.(121-123)Cac>Aac	p.H41N	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	41								p.H41N(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTTAGGTGTAGTCGTTGT	0.408000													34	133					1.836e-18	3.80902e-18	0.788014	1	0
CDK17	5128	broad.mit.edu	37	12	96707200	96707200	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:96707200C>A	ENST00000261211.3	-	4	919	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	CDK17_ENST00000543119.2_Missense_Mutation_p.D106Y|CDK17_ENST00000542666.1_Missense_Mutation_p.D53Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	106							ATP binding|cyclin-dependent protein kinase activity	p.D106Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CTCTCACCATCTGATCCCATT	0.333000													4	44					0.00024832	0.000295013	0.150653	1	0
TBR1	10716	broad.mit.edu	37	2	162274296	162274296	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:162274296G>T	ENST00000389554.3	+	2	1119	c.802G>T	c.(802-804)Gga>Tga	p.G268*		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	268						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G268*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GAGGTTTCAAGGAGGCAAATG	0.413000													12	79					3.07112e-06	4.17152e-06	0.387290	1	0
CLCA1	1179	broad.mit.edu	37	1	86951077	86951077	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:86951077C>A	ENST00000234701.3	+	7	1138	c.787C>A	c.(787-789)Caa>Aaa	p.Q263K	CLCA1_ENST00000394711.1_Missense_Mutation_p.Q263K			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	263					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.Q263K(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCCAAACAAGCAAAATCAAAA	0.373000													17	70					1.56452e-12	2.91253e-12	0.557998	1	0
TRIP13	9319	broad.mit.edu	37	5	908506	908506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:908506G>T	ENST00000166345.3	+	9	1152	c.796G>T	c.(796-798)Gcg>Tcg	p.A266S		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.A266S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGCCTGCAGGGCGGGCACCGA	0.562000													8	44					1.12685e-05	1.49649e-05	0.307466	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362786	19362786	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:19362786G>C	ENST00000454498.2	-	4	1573	c.560C>G	c.(559-561)gCc>gGc	p.A187G	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.A187G|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.A187G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	187					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	p.A187G(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGTCTCCAAGGCTGATTCAAT	0.542000													6	49					0	0	0.248553	0	0
CDH10	1008	broad.mit.edu	37	5	24509704	24509704	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:24509704C>A	ENST00000264463.4	-	7	1734	c.1227G>T	c.(1225-1227)agG>agT	p.R409S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	409	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R409R(1)|p.R409S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATCTGGGTCCCTTGCCATTA	0.453000										HNSCC(23;0.051)			15	63					6.49762e-13	1.23722e-12	0.539581	1	0
IL1F10	84639	broad.mit.edu	37	2	113832335	113832335	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:113832335C>G	ENST00000393197.2	+	3	575	c.154C>G	c.(154-156)Cgc>Ggc	p.R52G	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52G|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R52G(1)		endometrium(1)|lung(6)|ovary(1)	8						AGGCTTGGCCCGCACCAAGGT	0.582000													8	99					0	0	0.608945	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12918928	12918928	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:12918928G>C	ENST00000240189.2	+	2	151	c.64G>C	c.(64-66)Gcc>Ccc	p.A22P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	22								p.A22P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGACCAGGCCTTGTCCAT	0.567000													11	86					0	0	0.387290	0	0
IGSF1	3547	broad.mit.edu	37	X	130409975	130409975	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:130409975C>A	ENST00000370904.1	-	21	3739	c.2829G>T	c.(2827-2829)agG>agT	p.R943S	IGSF1_ENST00000361420.3_Missense_Mutation_p.R952S|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.R957S|IGSF1_ENST00000370910.1_Missense_Mutation_p.R943S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	952	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.R952S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATATGACCCCCTGTTTGACA	0.512000													11	53					3.86212e-05	4.89515e-05	0.361761	1	0
ZNF551	90233	broad.mit.edu	37	19	58196642	58196642	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:58196642G>T	ENST00000282296.5	+	2	279	c.94G>T	c.(94-96)Gag>Tag	p.E32*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.E16*|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Nonsense_Mutation_p.E16*	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E16*(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGACCTTTGAGGATGTGGC	0.493000													19	101					1.67942e-08	2.60341e-08	0.539581	1	0
CSMD3	114788	broad.mit.edu	37	8	113299383	113299383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:113299383C>A	ENST00000297405.5	-	58	9485	c.9241G>T	c.(9241-9243)Gct>Tct	p.A3081S	CSMD3_ENST00000455883.2_Missense_Mutation_p.A2912S|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3041S|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3011S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3081	Sushi 22.					integral to membrane|plasma membrane		p.A3041S(1)|p.A3081S(1)		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						GTATCACAAGCATAACGTACA	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	86					4.26978e-12	7.8092e-12	0.654019	1	0
ZNF534	147658	broad.mit.edu	37	19	52941035	52941035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:52941035C>T	ENST00000332323.6	+	4	422	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q108*|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q121*(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACTTAAAAATCAACATGGATT	0.353000													4	34					0	0	0.184627	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41103887	41103887	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:41103887C>A	ENST00000421990.2	-	16	1900	c.1555G>T	c.(1555-1557)Ggc>Tgc	p.G519C	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.G519C|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.G458C|AARSD1_ENST00000427569.2_Missense_Mutation_p.G345C|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.G428C	NM_001136042.2	NP_001129514.2												p.G458C(1)									TTCTCATCGCCCACAGTTAAG	0.522000													7	28					0.00307968	0.00348975	0.278610	1	0
LRP1B	53353	broad.mit.edu	37	2	141533673	141533673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:141533673G>T	ENST00000389484.3	-	33	6465	c.5494C>A	c.(5494-5496)Cag>Aag	p.Q1832K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1832					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q1832K(1)		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)		TTACCTTGCTGTGCTTCTTTA	0.388000										TSP Lung(27;0.18)			11	98					4.68919e-08	7.16261e-08	0.361761	1	0
KCNA2	3737	broad.mit.edu	37	1	111146095	111146095	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:111146095T>G	ENST00000485317.1	-	3	1983	c.1310A>C	c.(1309-1311)aAg>aCg	p.K437T	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.K437T|KCNA2_ENST00000316361.4_Missense_Mutation_p.K437T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	437						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.K437T(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GGATGGGATCTTTGGACAGCT	0.463000													27	106					0	0	0.706142	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185358	32185358	+	Missense_Mutation	SNP	C	C	A	rs140820436	by1000genomes	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr21:32185358C>A	ENST00000329621.4	-	1	212	c.181G>T	c.(181-183)Gct>Tct	p.A61S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	61						intermediate filament		p.A61S(1)		central_nervous_system(1)|large_intestine(1)|lung(4)	6						CAGTAGAGAGCAAATGGCGAG	0.562000													17	52					7.07596e-05	8.83436e-05	0.539581	1	0
FAM171B	165215	broad.mit.edu	37	2	187615876	187615876	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:187615876A>T	ENST00000304698.5	+	5	943	c.740A>T	c.(739-741)gAa>gTa	p.E247V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	247						integral to membrane	DNA binding	p.E247V(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAAAACATTGAATTGACTCCT	0.318000													18	126					0	0	0.624587	0	0
HEPH	9843	broad.mit.edu	37	X	65474945	65474945	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:65474945G>T	ENST00000519389.1	+	16	2973	c.2794G>T	c.(2794-2796)Gtt>Ttt	p.V932F	HEPH_ENST00000441993.2_Missense_Mutation_p.V881F|HEPH_ENST00000343002.2_Missense_Mutation_p.V878F|HEPH_ENST00000374727.3_Missense_Mutation_p.V881F|HEPH_ENST00000336279.5_Missense_Mutation_p.V611F|HEPH_ENST00000419594.1_Missense_Mutation_p.V689F			Q9BQS7	HEPH_HUMAN	hephaestin	878	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.V878F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCTGCTTGTGTTTCCTGGAT	0.483000													6	42					2.0095e-06	2.75645e-06	0.248553	1	0
PXDNL	137902	broad.mit.edu	37	8	52325734	52325734	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:52325734G>C	ENST00000356297.4	-	15	1980	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	PXDNL_ENST00000543296.1_Missense_Mutation_p.S627C	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	627					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.S627C(1)		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)				TCTTCGTGTGGAGTTAATTGC	0.348000													13	42					0	0	0.479597	0	0
OR2L3	391192	broad.mit.edu	37	1	248224588	248224588	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:248224588C>A	ENST00000359959.3	+	1	605	c.605C>A	c.(604-606)aCc>aAc	p.T202N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTTGAGCACCACCATCTTT	0.488000													14	108					1.5842e-08	2.46497e-08	0.435327	1	0
PDE11A	50940	broad.mit.edu	37	2	178528660	178528660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:178528660G>T	ENST00000286063.5	-	19	2897	c.2580C>A	c.(2578-2580)aaC>aaA	p.N860K	PDE11A_ENST00000409504.1_Missense_Mutation_p.N502K|PDE11A_ENST00000449286.2_Missense_Mutation_p.N502K|PDE11A_ENST00000450799.2_Missense_Mutation_p.N51K|PDE11A_ENST00000389683.3_Missense_Mutation_p.N416K|PDE11A_ENST00000358450.4_Missense_Mutation_p.N610K	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	860	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.N610K(1)|p.N860K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CATCCTTCCGGTTCCGATCAA	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				13	48					1.49906e-05	1.95346e-05	0.457914	1	0
POSTN	10631	broad.mit.edu	37	13	38143960	38143960	+	Splice_Site	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:38143960T>C	ENST00000379747.4	-	20	2387		c.e20-2		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000497145.1_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTCAGGACCTATGAGAAGGA	0.378000													21	76					0	0	0.639603	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77355074	77355074	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:77355074C>A	ENST00000282849.5	-	15	2607	c.2189G>T	c.(2188-2190)gGc>gTc	p.G730V		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	730	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G730V(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTTTAGAGCCTAGTTCATG	0.388000													14	104					6.31663e-08	9.61326e-08	0.479597	1	0
NCKAP5	344148	broad.mit.edu	37	2	133543133	133543133	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:133543133G>T	ENST00000409261.1	-	14	1624	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	NCKAP5_ENST00000317721.6_Silent_p.P417P|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	417							protein binding	p.P417Q(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCACTGATGGGGGTTCAAGTA	0.413000													14	85					1.15088e-07	1.70789e-07	0.500413	1	0
KHDC3L	154288	broad.mit.edu	37	6	74073549	74073549	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:74073549G>T	ENST00000370367.3	+	3	673	c.620G>T	c.(619-621)cGc>cTc	p.R207L		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.R207L(1)									CAGCGGTTTCGCGAGGATGCC	0.622000													8	29					3.09899e-07	4.55027e-07	0.307466	1	0
OLFM1	10439	broad.mit.edu	37	9	138011775	138011775	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:138011775G>T	ENST00000252854.4	+	6	1342	c.1155G>T	c.(1153-1155)ggG>ggT	p.G385G	OLFM1_ENST00000371793.3_Silent_p.G403G|OLFM1_ENST00000371796.3_Silent_p.G376G	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	403	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding	p.G385V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCAGCGCCGGGGAGGCCTTCA	0.602000													3	34					0.115264	0.118679	0.115264	1	0
KCNK2	3776	broad.mit.edu	37	1	215408346	215408346	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:215408346G>T	ENST00000444842.2	+	7	1289	c.1139G>T	c.(1138-1140)tGt>tTt	p.C380F	KCNK2_ENST00000391894.2_Missense_Mutation_p.C365F|KCNK2_ENST00000391895.2_Missense_Mutation_p.C376F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	380	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity	p.C380F(1)|p.C365F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTGACTCCTTGTAGGAGGACC	0.532000													7	42					8.12818e-05	9.93974e-05	0.248553	1	0
DNAH9	1770	broad.mit.edu	37	17	11592948	11592948	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:11592948C>A	ENST00000262442.3	+	20	3877	c.3809C>A	c.(3808-3810)tCc>tAc	p.S1270Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1270Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	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	p.S1270*(1)		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)		CAGATGGAATCCACTATGGCC	0.488000													13	72					1.5842e-08	2.46497e-08	0.435327	1	0
BRINP1	1620	broad.mit.edu	37	9	122075577	122075577	+	Silent	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:122075577T>A	ENST00000265922.3	-	2	518	c.57A>T	c.(55-57)tcA>tcT	p.S19S	DBC1_ENST00000373964.2_Silent_p.S19S	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		19					cell cycle arrest|cell death	cytoplasm	protein binding	p.S19S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGGCTGCACTGAGATACGGC	0.512000													23	68					0	0	0.654019	0	0
SERPING1	710	broad.mit.edu	37	11	57381888	57381888	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:57381888T>A	ENST00000403558.1	+	7	1832	c.1466T>A	c.(1465-1467)gTg>gAg	p.V489E	SERPING1_ENST00000378323.4_Missense_Mutation_p.V451E|SERPING1_ENST00000378324.2_Missense_Mutation_p.V394E|SERPING1_ENST00000340687.6_Missense_Mutation_p.V409E|SERPING1_ENST00000278407.4_Missense_Mutation_p.V446E	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	446			P -> R (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.V446E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CACCAGACAGTGCTGGAACTG	0.557000													9	49					0	0	0.307466	0	0
FBXL13	222235	broad.mit.edu	37	7	102667916	102667916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:102667916T>C	ENST00000393772.2	-	5	733	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E	FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.K103E|FBXL13_ENST00000456695.1_Missense_Mutation_p.K103E|FBXL13_ENST00000379306.3_Missense_Mutation_p.K103E|FBXL13_ENST00000455112.2_Missense_Mutation_p.K103E|FBXL13_ENST00000436908.1_Missense_Mutation_p.K103E|FBXL13_ENST00000313221.4_Missense_Mutation_p.K103E|FBXL13_ENST00000379305.3_Missense_Mutation_p.K103E			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	103								p.K103E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTTTCTTTTTACTCTTATGT	0.333000													13	74					0	0	0.479597	0	0
PTPRA	5786	broad.mit.edu	37	20	3018722	3018722	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:3018722C>T	ENST00000216877.6	+	23	2725	c.2325C>T	c.(2323-2325)tgC>tgT	p.C775C	PTPRA_ENST00000399903.2_Silent_p.C784C|PTPRA_ENST00000380393.3_Silent_p.C784C|PTPRA_ENST00000356147.3_Silent_p.C775C|PTPRA_ENST00000318266.5_Silent_p.C775C|PTPRA_ENST00000358719.4_Silent_p.C640C|PTPRA_ENST00000425918.2_Silent_p.C795C	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	784	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.C784C(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGAGTTCTGCTACAAGGTGG	0.428000													15	71					0	0	0.520397	0	0
FTMT	94033	broad.mit.edu	37	5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731000													5	10					0	0	0.217242	0	0
DAXX	1616	broad.mit.edu	37	6	33287401	33287401	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:33287401G>A	ENST00000374542.5	-	6	1900	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Missense_Mutation_p.L491F|DAXX_ENST00000266000.6_Missense_Mutation_p.L566F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	566	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.L566F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGCTCAAAGAGCTGAGACACA	0.542000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								31	65					0	0	0.729181	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950105	123950105	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:123950105C>G	ENST00000526639.2	+	2	597	c.18C>G	c.(16-18)ccC>ccG	p.P6P	SNRNP35_ENST00000412157.2_Silent_p.P11P|SNRNP35_ENST00000350887.5_Silent_p.P6P|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	6					mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	p.P6P(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ATTGGATGCCCATCGCCAAGG	0.517000													9	37					0	0	0.361761	0	0
OR4N4	283694	broad.mit.edu	37	15	22383396	22383396	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:22383396T>A	ENST00000328795.4	+	1	1015	c.924T>A	c.(922-924)tgT>tgA	p.C308*	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C308*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGTAGTCTGTCAAGTGGATT	0.373000													12	62					0	0	0.387290	0	0
SCARA5	286133	broad.mit.edu	37	8	27737266	27737266	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:27737266T>C	ENST00000354914.3	-	8	1656	c.1171A>G	c.(1171-1173)Atg>Gtg	p.M391V	SCARA5_ENST00000380385.2_Missense_Mutation_p.M166V	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	391					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.M391V(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CGGATCATCATCGGGGCCTCC	0.657000													5	14					0	0	0.217242	0	0
PCLO	27445	broad.mit.edu	37	7	82583854	82583854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:82583854C>G	ENST00000423517.2	-	5	6752	c.6415G>C	c.(6415-6417)Gaa>Caa	p.E2139Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E2139Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2070					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2139Q(2)|p.E2070Q(1)		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						TCAATTTCTTCTGTTGAAAAA	0.393000													11	44					0	0	0.387290	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309479	89309479	+	RNA	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:89309479A>T	ENST00000493819.1	-	0	408																											ACACTGTGGGAGGGTAACTAT	0.512000													25	94					0	0	0.681144	0	0
SPRR3	6707	broad.mit.edu	37	1	152975939	152975939	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:152975939A>T	ENST00000331860.3	+	3	593	c.443A>T	c.(442-444)aAg>aTg	p.K148M	SPRR3_ENST00000542696.1_Missense_Mutation_p.K140M|SPRR3_ENST00000295367.4_Missense_Mutation_p.K148M	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	148	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.K148M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTACACAAAGCTACCAGAG	0.517000													8	21					0	0	0.278610	0	0
AADACL2	344752	broad.mit.edu	37	3	151474791	151474791	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:151474791T>C	ENST00000356517.3	+	5	724	c.615T>C	c.(613-615)gaT>gaC	p.D205D	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	205						extracellular region|integral to membrane	carboxylesterase activity	p.D183D(1)|p.D205D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGCAGAATGATGCTGAAATAA	0.313000													28	40					0	0	0.740014	0	0
DHX9	1660	broad.mit.edu	37	1	182827319	182827319	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:182827319C>T	ENST00000367549.3	+	8	864	c.754C>T	c.(754-756)Cat>Tat	p.H252Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	252	DRBM 2.|Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.H252Y(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACAACTGTACCATCTTGGAGT	0.418000													16	84					0	0	0.520397	0	0
LRRC46	90506	broad.mit.edu	37	17	45913760	45913760	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:45913760C>A	ENST00000269025.4	+	7	877	c.514C>A	c.(514-516)Cgc>Agc	p.R172S		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	172	LRRCT.							p.R172S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGTGGTGGAGCGCTGGATTTC	0.602000													9	29					0.00621372	0.006873	0.335167	1	0
UBE2D2	7322	broad.mit.edu	37	5	138994325	138994325	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:138994325A>G	ENST00000253815.2	+	5	954	c.77A>G	c.(76-78)cAt>cGt	p.H26R	UBE2D2_ENST00000398733.3_Missense_Mutation_p.H55R|UBE2D2_ENST00000511725.1_Missense_Mutation_p.H26R|UBE2D2_ENST00000505548.1_Missense_Mutation_p.H26R	NM_181838.1	NP_862821.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	55					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	p.H55R(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGACAATTCATTTCCCAACA	0.313000													16	56					0	0	0.557998	0	0
PTPRD	5789	broad.mit.edu	37	9	8465644	8465644	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:8465644C>G	ENST00000381196.4	-	29	4079	c.3536G>C	c.(3535-3537)aGc>aCc	p.S1179T	PTPRD_ENST00000540109.1_Missense_Mutation_p.S1179T|PTPRD_ENST00000537002.1_Missense_Mutation_p.S765T|PTPRD_ENST00000397617.3_Missense_Mutation_p.S758T|PTPRD_ENST00000360074.4_Missense_Mutation_p.S1166T|PTPRD_ENST00000358503.5_Missense_Mutation_p.S1157T|PTPRD_ENST00000356435.5_Missense_Mutation_p.S1179T|PTPRD_ENST00000397606.3_Missense_Mutation_p.S758T|PTPRD_ENST00000355233.5_Missense_Mutation_p.S768T|PTPRD_ENST00000397611.3_Missense_Mutation_p.S765T|PTPRD_ENST00000486161.1_Missense_Mutation_p.S768T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1179					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S1179T(2)|p.S768T(1)|p.S650T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATAACGGATGCTTCTGCGCTT	0.398000										TSP Lung(15;0.13)			9	79					0	0	0.411799	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163799	32163799	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:32163799G>T	ENST00000564145.1	-	0	35																											GCAAAGCTGTGGGTGATGGAG	0.527000													4	56					0.0215528	0.0230449	0.217242	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735507	55735507	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:55735507G>T	ENST00000312345.2	-	1	483	c.433C>A	c.(433-435)Cct>Act	p.P145T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P145T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATTACTACAGGAATTGTGATG	0.418000													9	54					1.12685e-05	1.49649e-05	0.307466	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89246973	89246973	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:89246973G>T	ENST00000496168.1	-	0	377																											CAGGAGCTTAGGGGCTTTCCC	0.522000													14	50					1.3612e-06	1.8984e-06	0.479597	1	0
SLIT1	6585	broad.mit.edu	37	10	98778813	98778813	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:98778813G>T	ENST00000266058.4	-	27	3043	c.2798C>A	c.(2797-2799)cCg>cAg	p.P933Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P933Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	933	EGF-like 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.P933Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCTGGCACGGACTGGACAA	0.652000													5	21					1.23904e-05	1.61969e-05	0.184627	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597526	136597526	+	Silent	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:136597526T>C	ENST00000531224.1	-	5	1389	c.1137A>G	c.(1135-1137)gaA>gaG	p.E379E	BCLAF1_ENST00000527759.1_Silent_p.E377E|BCLAF1_ENST00000392348.2_Silent_p.E377E|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.E379E|BCLAF1_ENST00000353331.4_Silent_p.E377E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	379					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.E379E(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AATCTAGAGCTTCCTGATCTT	0.428000													37	472					0	0	0.819951	0	0
USH1C	10083	broad.mit.edu	37	11	17517185	17517185	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:17517185C>A	ENST00000005226.7	-	26	2585	c.2586G>T	c.(2584-2586)ccG>ccT	p.P862P	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.P862P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTTTCGGACCGGTTGGGGGC	0.582000													24	120					4.26978e-12	7.8092e-12	0.654019	1	0
SLCO2B1	11309	broad.mit.edu	37	11	74876920	74876920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:74876920T>A	ENST00000289575.5	+	4	769	c.374T>A	c.(373-375)gTg>gAg	p.V125E	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.V9E|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.V9E|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.V103E|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.V9E|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	125					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.V125E(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GCTATCCTTGTGGCCCTGGCG	0.592000													25	113					0	0	0.667858	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821419	12821419	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:12821419G>T	ENST00000319264.3	+	2	1042	c.347G>T	c.(346-348)cGc>cTc	p.R116L		NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	119								p.R116L(1)									AGGCTCATGCGCCAGTTGCTT	0.483000													28	145					4.87955e-14	9.59799e-14	0.693898	1	0
C18orf25	147339	broad.mit.edu	37	18	43796479	43796479	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:43796479G>T	ENST00000282059.6	+	2	1007	c.633G>T	c.(631-633)ctG>ctT	p.L211L	C18orf25_ENST00000321319.6_Silent_p.L211L	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	211								p.L211L(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATAGTGACCTGACTTGTGACT	0.478000													6	38					3.59834e-05	4.57471e-05	0.217242	1	0
NPAP1	23742	broad.mit.edu	37	15	24923779	24923779	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:24923779C>G	ENST00000329468.2	+	1	3239	c.2765C>G	c.(2764-2766)cCa>cGa	p.P922R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P922R(1)									CCAGCAACCCCAGCACCAGTT	0.468000													8	104					0	0	0.278610	0	0
GOLT1B	51026	broad.mit.edu	37	12	21661496	21661496	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:21661496G>T	ENST00000229314.5	+	3	405		c.e3+1		GOLT1B_ENST00000542038.1_Splice_Site|GOLT1B_ENST00000540141.1_Splice_Site|GOLT1B_ENST00000535593.1_Intron	NM_016072.4	NP_057156.1	Q9Y3E0	GOT1B_HUMAN	golgi transport 1B						positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity	p.?(1)		large_intestine(2)|lung(3)	5						TCTTGTTCAGGTAAGGCATAT	0.353000													12	86					6.40141e-05	8.01618e-05	0.387290	1	0
IL22	50616	broad.mit.edu	37	12	68647059	68647059	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:68647059A>G	ENST00000538666.1	-	2	240	c.170T>C	c.(169-171)tTc>tCc	p.F57S	IL22_ENST00000328087.4_Missense_Mutation_p.F57S			Q9GZX6	IL22_HUMAN	interleukin 22	57					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	p.F57S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		AGCCAGCATGAAGGTGCGGTT	0.493000													5	42					0	0	0.184627	0	0
TUBB8	347688	broad.mit.edu	37	10	93408	93408	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:93408G>T	ENST00000447903.2	-	4	1023	c.708C>A	c.(706-708)ggC>ggA	p.G236G	TUBB8_ENST00000309812.4_Silent_p.G308G			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	308					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.G308G(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTAGGTAGCGGCCGTGACGGG	0.552000													31	94					6.68952e-21	1.41601e-20	0.864702	1	0
PADI2	11240	broad.mit.edu	37	1	17410262	17410262	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:17410262C>A	ENST00000375486.4	-	9	1072	c.1009G>T	c.(1009-1011)Gtc>Ttc	p.V337F	PADI2_ENST00000375481.1_Missense_Mutation_p.V337F|PADI2_ENST00000444885.2_Missense_Mutation_p.V221F	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	337					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.V337F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TGGAAGCAGACCTTCAGCTCA	0.532000													10	80					7.03913e-09	1.12035e-08	0.411799	1	0
PNPLA1	285848	broad.mit.edu	37	6	36274107	36274107	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:36274107G>T	ENST00000394571.2	+	7	1423	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	PNPLA1_ENST00000388715.3_Missense_Mutation_p.V380L|PNPLA1_ENST00000312917.5_Missense_Mutation_p.V389L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	475					lipid catabolic process		hydrolase activity	p.V475L(1)|p.V380L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAAGCGCCGTGCCTCTGGT	0.478000													28	120					1.39649e-27	3.01728e-27	0.760397	1	0
PLXNA4	91584	broad.mit.edu	37	7	132169704	132169704	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:132169704C>A	ENST00000378539.5	-	5	1816	c.1440G>T	c.(1438-1440)ggG>ggT	p.G480G	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000321063.4_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane		p.G480G(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAATGTTCGCCCCAGGTGGGT	0.483000													28	61					2.81731e-10	4.77569e-10	0.750413	1	0
MAGEC3	139081	broad.mit.edu	37	X	140926218	140926218	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:140926218G>T	ENST00000298296.1	+	1	117	c.117G>T	c.(115-117)caG>caT	p.Q39H		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	39								p.Q39H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCACCTCAGCCCCAGGTGT	0.537000													25	93					1.26454e-06	1.77547e-06	0.693898	1	0
RABGGTB	5876	broad.mit.edu	37	1	76253183	76253183	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:76253183G>T	ENST00000319942.3	+	2	76	c.3_splice	c.e2-1	p.G2_splice	RABGGTB_ENST00000370826.3_Splice_Site_p.G2_splice|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	2					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	p.G2V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTTTGAAAGGGCACTCCACAG	0.378000													25	69					6.32553e-13	1.22118e-12	0.681144	1	0
KLRC3	3823	broad.mit.edu	37	12	10568380	10568380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:10568380C>A	ENST00000396439.2	-	6	645	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	KLRC3_ENST00000381903.2_Missense_Mutation_p.D201Y|NKG2-E_ENST00000539033.1_Missense_Mutation_p.D201Y|KLRC3_ENST00000381904.2_Missense_Mutation_p.D201Y	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.D201Y(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCATGATCTGAGTCTTTT	0.348000													7	55					0.0293803	0.0312541	0.248553	1	0
PTPRO	5800	broad.mit.edu	37	12	15747894	15747894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:15747894G>T	ENST00000281171.4	+	26	3900	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PTPRO_ENST00000544244.1_Missense_Mutation_p.Q351H|PTPRO_ENST00000445537.2_Missense_Mutation_p.Q379H|PTPRO_ENST00000542557.1_Missense_Mutation_p.Q351H|PTPRO_ENST00000442921.2_Missense_Mutation_p.Q379H|PTPRO_ENST00000348962.2_Missense_Mutation_p.Q1162H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1190	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1190H(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATCCATCAGTGTGTGCAAC	0.373000													9	64					0.0581538	0.0610834	0.335167	1	0
SPHK1	8877	broad.mit.edu	37	17	74383634	74383634	+	Silent	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:74383634C>G	ENST00000545180.1	+	8	1931	c.1122C>G	c.(1120-1122)ccC>ccG	p.P374P	SPHK1_ENST00000392496.3_Silent_p.P374P|SPHK1_ENST00000592299.1_Silent_p.P374P|SPHK1_ENST00000590959.1_Silent_p.P388P|SPHK1_ENST00000323374.4_Silent_p.P460P			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	374					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	p.P460P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GCTGGAAGCCCCAGCAGATGC	0.632000													5	56					0	0	0.217242	0	0
POT1	25913	broad.mit.edu	37	7	124510993	124510993	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:124510993C>A	ENST00000357628.3	-	7	825	c.227G>T	c.(226-228)gGa>gTa	p.G76V	POT1_ENST00000393329.1_Intron	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	76					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.G76V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AACAATATCTCCATTTTTATA	0.333000													14	89					2.61681e-11	4.64345e-11	0.457914	1	0
ANO3	63982	broad.mit.edu	37	11	26669345	26669345	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:26669345C>A	ENST00000256737.3	+	24	3370	c.2518C>A	c.(2518-2520)Cgt>Agt	p.R840S	ANO3_ENST00000525139.1_Missense_Mutation_p.R824S|ANO3_ENST00000531568.1_Missense_Mutation_p.R694S|ANO3_ENST00000537978.1_Missense_Mutation_p.R824S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	840						chloride channel complex	chloride channel activity	p.R840S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTACATCCCACGTTTTGTTTA	0.348000													13	61					0.00010058	0.000121219	0.411799	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42107526	42107526	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:42107526G>T	ENST00000457542.2	+	11	1526	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.D420Y|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.D297Y|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.D414Y	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	420								p.D414Y(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCTCCTCAGACAACACCAT	0.597000													9	34					1.76689e-08	2.72887e-08	0.335167	1	0
KCNU1	157855	broad.mit.edu	37	8	36663793	36663793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:36663793G>T	ENST00000399881.3	+	5	512	c.475G>T	c.(475-477)Gca>Tca	p.A159S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	159						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.A159S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATAGTTTATGGCAGCTGATGA	0.338000													5	20					0.000602214	0.000705403	0.184627	1	0
KLHL1	57626	broad.mit.edu	37	13	70281875	70281875	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:70281875C>A	ENST00000377844.4	-	10	2828	c.2069G>T	c.(2068-2070)aGa>aTa	p.R690I	KLHL1_ENST00000545028.1_Missense_Mutation_p.R497I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	690					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R690I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AACAGCATCTCTGGGCATACT	0.413000													20	64					1.33834e-09	2.20588e-09	0.557998	1	0
COL22A1	169044	broad.mit.edu	37	8	139609156	139609156	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:139609156G>T	ENST00000303045.6	-	62	4869	c.4423C>A	c.(4423-4425)Cag>Aag	p.Q1475K	COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1455K|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1475	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.Q1475K(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTCAAGCTGCTTCCCCAGC	0.507000										HNSCC(7;0.00092)			68	183					5.41795e-27	1.16458e-26	0.870114	1	0
OR52E2	119678	broad.mit.edu	37	11	5080580	5080580	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5080580C>A	ENST00000321522.2	-	1	277	c.278G>T	c.(277-279)gGg>gTg	p.G93V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G93V(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AAAGATGATCCCTCTGAGGTT	0.483000													6	12					3.59834e-05	4.57471e-05	0.217242	1	0
UBXN7	26043	broad.mit.edu	37	3	196089416	196089416	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:196089416C>A	ENST00000296328.4	-	9	1051	c.977G>T	c.(976-978)aGt>aTt	p.S326I	UBXN7_ENST00000428095.1_Missense_Mutation_p.S164I|UBXN7_ENST00000535858.1_Missense_Mutation_p.S178I	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	326							protein binding	p.S326I(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GAACTCCTCACTGCCAGAAAA	0.428000													47	104					2.52991e-16	5.1969e-16	0.870114	1	0
CCDC108	255101	broad.mit.edu	37	2	219890775	219890775	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:219890775T>A	ENST00000341552.5	-	14	2401	c.2318A>T	c.(2317-2319)cAc>cTc	p.H773L	CCDC108_ENST00000453220.1_Missense_Mutation_p.H773L|CCDC108_ENST00000441968.1_Missense_Mutation_p.H773L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	773						integral to membrane	structural molecule activity	p.H773L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGGGGATGTGGTGCTCAAA	0.592000													6	45					0	0	0.278610	0	0
WDR96	80217	broad.mit.edu	37	10	105952008	105952008	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:105952008A>G	ENST00000357060.3	-	12	1610	c.1495T>C	c.(1495-1497)Ttt>Ctt	p.F499L	WDR96_ENST00000278064.2_Missense_Mutation_p.F430L|WDR96_ENST00000428666.1_Missense_Mutation_p.F500L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	499								p.F499L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGATAATAAAGACTTTTCCT	0.318000													10	84					0	0	0.500413	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444453	25444453	+	RNA	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:25444453G>T	ENST00000424208.1	+	0	1726				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AATGGACCCAGGCCAGTGGCC	0.592000													5	25					1.23904e-05	1.61969e-05	0.184627	1	0
CCDC122	160857	broad.mit.edu	37	13	44411448	44411448	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:44411448C>T	ENST00000444614.3	-	7	1048	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	264								p.E264K(1)		endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		TTTCTTAATTCGGCTGCAGTT	0.383000													6	69					0	0	0.217242	0	0
CDK8	1024	broad.mit.edu	37	13	26974649	26974649	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:26974649G>T	ENST00000381527.3	+	10	1496	c.993G>T	c.(991-993)caG>caT	p.Q331H	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	331	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.Q331H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGGCTATGCAGGACCCCTATT	0.428000													20	123					7.45023e-12	1.34491e-11	0.592651	1	0
DHX32	55760	broad.mit.edu	37	10	127530320	127530320	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:127530320A>C	ENST00000284690.3	-	7	2025	c.1535T>G	c.(1534-1536)aTg>aGg	p.M512R	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.M136R|DHX32_ENST00000284688.6_Missense_Mutation_p.M431R|BCCIP_ENST00000429863.2_3'UTR|BCCIP_ENST00000299130.3_3'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	512						mitochondrion|nucleus	ATP binding|helicase activity	p.M512R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACCTGTTACCATGGCTGCGAT	0.378000													11	69					0	0	0.387290	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389498	140389498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:140389498C>T	ENST00000406427.1	-	19	2450	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	PNPLA7_ENST00000371457.1_Missense_Mutation_p.R286H|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R680H	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	680					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R680H(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGTACCTGCGCTTGATGGA	0.657000													11	41					0	0	0.361761	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417793	25417793	+	RNA	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:25417793G>A	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							GGTCGATGATGAGAAGCTTCT	0.517000													9	121					0	0	0.361761	0	0
SALL1	6299	broad.mit.edu	37	16	51173276	51173276	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:51173276G>T	ENST00000440970.1	-	2	2997	c.2566C>A	c.(2566-2568)Cca>Aca	p.P856T	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P953T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	953					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P953T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGCTTGGGACCGCTCTC	0.512000													9	21					0.0581538	0.0610834	0.335167	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124244	142124244	+	RNA	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:142124244G>A	ENST00000390376.2	-	0	233																											AGCCATTGGGGACTTCTTTGT	0.502000													28	168					0	0	0.693898	0	0
OR1J1	347168	broad.mit.edu	37	9	125239270	125239270	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:125239270A>G	ENST00000259357.2	-	1	965	c.936T>C	c.(934-936)gcT>gcC	p.A312A		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						tacaggcatgagccactgcgc	0.502000													3	74					0	0	0.115264	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072004	34072004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:34072004C>A	ENST00000254466.6	-	6	2539	c.2512G>T	c.(2512-2514)Gag>Tag	p.E838*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.E822*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	838					cell cycle arrest	cytoplasm|cytoskeleton		p.E838*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		tcctcctcctcctcACCTACT	0.627000													9	32					1.58986e-06	2.19528e-06	0.361761	1	0
MUC16	94025	broad.mit.edu	37	19	9090511	9090511	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:9090511G>T	ENST00000397910.4	-	1	1507	c.1304C>A	c.(1303-1305)aCa>aAa	p.T435K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	435	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T435K(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCATAGATGTATTCAAAGT	0.483000													20	73					1.56452e-12	2.91253e-12	0.557998	1	0
BRSK1	84446	broad.mit.edu	37	19	55805585	55805585	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:55805585C>A	ENST00000309383.1	+	6	856	c.579C>A	c.(577-579)tcC>tcA	p.S193S	BRSK1_ENST00000590333.1_Silent_p.S209S|BRSK1_ENST00000585418.1_Silent_p.S193S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	193	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.S193S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTCAGGTCCCCCCATTATG	0.622000													16	81					6.94344e-10	1.16282e-09	0.539581	1	0
PAK6	56924	broad.mit.edu	37	15	40568142	40568142	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:40568142G>T	ENST00000455577.2	+	10	2670	c.1758G>T	c.(1756-1758)ctG>ctT	p.L586L	PAK6_ENST00000560346.1_Silent_p.L631L|PAK6_ENST00000260404.4_Silent_p.L631L|PAK6_ENST00000542403.2_Silent_p.L631L|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Silent_p.L631L|PAK6_ENST00000441369.1_Silent_p.L631L	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCCCAGTGCTGCGAGACTTCC	0.577000													6	70					3.59834e-05	4.57471e-05	0.217242	1	0
RP1L1	94137	broad.mit.edu	37	8	10468155	10468155	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:10468155G>C	ENST00000382483.3	-	4	3676	c.3453C>G	c.(3451-3453)ctC>ctG	p.L1151L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1151					intracellular signal transduction			p.L1151L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGAGATGCTGAGCAGCTCCT	0.567000													4	43					0	0	0.150653	0	0
ALOX12	239	broad.mit.edu	37	17	6913416	6913416	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:6913416T>A	ENST00000251535.6	+	13	1836	c.1783T>A	c.(1783-1785)Tgg>Agg	p.W595R	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Start_Codon_SNP_p.M1L|AC027763.2_ENST00000573939.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	595	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	p.S594fs*1(1)|p.W595R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GGCCATCTCATGGCATCTGAG	0.582000													8	20					0	0	0.278610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329776	88329776	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:88329776C>A	ENST00000325089.6	+	2	2352	c.2133C>A	c.(2131-2133)aaC>aaA	p.N711K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N470K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	711						integral to membrane		p.N711K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCTCCTTTAACATGCAGTACA	0.667000													4	24					0.184627	0.186868	0.184627	1	0
NTRK3	4916	broad.mit.edu	37	15	88679799	88679799	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:88679799G>T	ENST00000394480.1	-	8	985	c.664C>A	c.(664-666)Cga>Aga	p.R222R	NTRK3_ENST00000355254.2_Silent_p.R222R|NTRK3_ENST00000540489.2_Silent_p.R222R|NTRK3_ENST00000360948.2_Silent_p.R222R|NTRK3_ENST00000357724.2_Silent_p.R222R|NTRK3_ENST00000317501.3_Silent_p.R222R|NTRK3_ENST00000558676.1_Silent_p.R222R|NTRK3_ENST00000542733.2_Silent_p.R124R|NTRK3_ENST00000557856.1_Silent_p.R222R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	222	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R222R(3)	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)			TCACCCTCTCGTACGGTCAGG	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			3	30					0.115264	0.118679	0.115264	1	0
KCNK6	9424	broad.mit.edu	37	19	38817960	38817960	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:38817960G>T	ENST00000263372.3	+	3	966	c.859G>T	c.(859-861)Gtg>Ttg	p.V287L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	287						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.V287L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGACGATCGGGTGGACATCCT	0.667000													9	45					0.000673444	0.000784431	0.361761	1	0
C7orf33	202865	broad.mit.edu	37	7	148312477	148312477	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:148312477G>A	ENST00000307003.2	+	3	879	c.518G>A	c.(517-519)aGa>aAa	p.R173K		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	173								p.R173K(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGGATTTCCAGAACTGACAGC	0.383000													16	116					0	0	0.520397	0	0
DGKZ	8525	broad.mit.edu	37	11	46398736	46398736	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:46398736C>T	ENST00000454345.1	+	26	3005	c.2880C>T	c.(2878-2880)ccC>ccT	p.P960P	DGKZ_ENST00000527911.1_Silent_p.P772P|DGKZ_ENST00000532868.2_Silent_p.P776P|DGKZ_ENST00000343674.6_Silent_p.P788P|DGKZ_ENST00000318201.8_Silent_p.P749P|DGKZ_ENST00000395574.3_Silent_p.P738P|DGKZ_ENST00000421244.2_Silent_p.P772P|DGKZ_ENST00000528615.1_Silent_p.P550P|DGKZ_ENST00000456247.2_Silent_p.P771P|DGKZ_ENST00000543978.1_Silent_p.P124P	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	960					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	p.P960P(1)|p.P788P(1)|p.P772P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCCCTCTCCCCACCTCACCCT	0.627000													6	18					0	0	0.248553	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875626	75875626	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:75875626G>C	ENST00000266659.3	+	2	388	c.187G>C	c.(187-189)Gca>Cca	p.A63P		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	63					cellular lipid metabolic process	extracellular region|integral to membrane		p.A63P(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TTGGGACCCAGCACTAGCCCA	0.453000													28	171					0	0	0.750413	0	0
TMEM63A	9725	broad.mit.edu	37	1	226041437	226041437	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:226041437C>G	ENST00000366835.3	-	19	1960	c.1690G>C	c.(1690-1692)Gcc>Ccc	p.A564P		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	564						integral to membrane|lysosomal membrane	nucleotide binding	p.A564P(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CCGATGAAGGCCGAGGCGATG	0.592000													2	10					0	0	0.115264	0	0
CDH20	28316	broad.mit.edu	37	18	59217255	59217255	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:59217255C>A	ENST00000262717.4	+	11	2091	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	CDH20_ENST00000536675.2_Missense_Mutation_p.Q565K|CDH20_ENST00000538374.1_Missense_Mutation_p.Q565K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	565	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q565K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTCCGGCAGCAGGAGCAGAG	0.522000													4	31					0.00909568	0.00995511	0.150653	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38621383	38621383	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:38621383C>A	ENST00000222345.6	+	10	3623	c.3114C>A	c.(3112-3114)atC>atA	p.I1038I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1038	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.I1038I(1)		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)			TGGTCATCATCCCGCCTTTTG	0.627000													10	38					1.58986e-06	2.19528e-06	0.361761	1	0
KIAA0586	9786	broad.mit.edu	37	14	58941420	58941420	+	Silent	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:58941420A>G	ENST00000423743.3	+	20	2856	c.2598A>G	c.(2596-2598)ccA>ccG	p.P866P	KIAA0586_ENST00000261244.5_Silent_p.P834P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.P963P|KIAA0586_ENST00000556134.1_Silent_p.P895P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	834								p.P963P(1)|p.P834P(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATGGTCCTCCATTTCCGCCAG	0.363000													9	40					0	0	0.361761	0	0
NUP205	23165	broad.mit.edu	37	7	135311040	135311040	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:135311040G>C	ENST00000285968.6	+	33	4750	c.4724G>C	c.(4723-4725)aGa>aCa	p.R1575T		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1575					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R1575T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGCTGCTAAGATCAGGGGTG	0.443000													27	79					0	0	0.693898	0	0
TECPR1	25851	broad.mit.edu	37	7	97852406	97852406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:97852406C>A	ENST00000447648.2	-	21	3123	c.2824G>T	c.(2824-2826)Gag>Tag	p.E942*	TECPR1_ENST00000379795.3_Nonsense_Mutation_p.E944*|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	942						integral to membrane	protein binding	p.E943*(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCGGGCTCTCCGGGATGATG	0.672000													3	12					0.115264	0.118679	0.115264	1	0
FAM71A	149647	broad.mit.edu	37	1	212798394	212798394	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:212798394G>A	ENST00000294829.3	+	1	606	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	59								p.V59M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AAGGGGAGAAGTGATTGATGT	0.522000													14	69					0	0	0.520397	0	0
INTS4P1	285905	broad.mit.edu	37	7	64639799	64639799	+	RNA	SNP	T	T	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:64639799T>C	ENST00000587624.1	+	0	682																											CTGCAGTCCATACATACCATG	0.448000													8	63					0	0	0.361761	0	0
EDA2R	60401	broad.mit.edu	37	X	65822556	65822556	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:65822556G>T	ENST00000374719.3	-	5	492	c.436C>A	c.(436-438)Ctg>Atg	p.L146M	EDA2R_ENST00000456230.2_Missense_Mutation_p.L146M|EDA2R_ENST00000450752.1_Missense_Mutation_p.L146M|EDA2R_ENST00000253392.5_Missense_Mutation_p.L146M|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000396050.1_Missense_Mutation_p.L146M	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	146					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.L146M(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACCACTAGCAGGCTGCTCACC	0.532000													3	11					0.115264	0.118679	0.115264	1	0
ANKFY1	51479	broad.mit.edu	37	17	4075872	4075872	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:4075872G>A	ENST00000341657.4	-	22	3153	c.3118C>T	c.(3118-3120)Ccg>Tcg	p.P1040S	ANKFY1_ENST00000574367.1_Missense_Mutation_p.P1041S|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.P1082S	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1040						endosome membrane	metal ion binding|protein binding	p.P1041S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTGCATCCGGCTTGTCCAGA	0.562000													3	53					0	0	0.184627	0	0
NXPE4	54827	broad.mit.edu	37	11	114453728	114453728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:114453728T>A	ENST00000375478.3	-	3	292	c.112A>T	c.(112-114)Aac>Tac	p.N38Y	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4									p.N38Y(1)									ATGGATAAGTTTAGAGCAGAC	0.388000													7	163					0	0	0.248553	0	0
DNAH9	1770	broad.mit.edu	37	17	11592949	11592949	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:11592949C>A	ENST00000262442.3	+	20	3878	c.3810C>A	c.(3808-3810)tcC>tcA	p.S1270S	DNAH9_ENST00000454412.2_Silent_p.S1270S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1270	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	p.S1270*(1)		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)		AGATGGAATCCACTATGGCCT	0.488000													13	74					1.5842e-08	2.46497e-08	0.435327	1	0
IL1RL1	9173	broad.mit.edu	37	2	102964500	102964500	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:102964500G>A	ENST00000233954.1	+	9	1337	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	356					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E356K(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTTCTGGATTGAGGCCACTCT	0.363000													5	67					0	0	0.217242	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151219439	151219439	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:151219439C>T	ENST00000409426.1	+	14	2093	c.1648C>T	c.(1648-1650)Cat>Tat	p.550_550insY	PIP5K1A_ENST00000368888.4_Missense_Mutation_p.562_562insY|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.500_500insY|PIP5K1A_ENST00000414290.2_Silent_p.P170P|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.522_522insY			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	0					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.H562Y(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGTTCACCCATGTGAGTAT	0.408000													17	98					0	0	0.557998	0	0
EPHB6	2051	broad.mit.edu	37	7	142562114	142562114	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:142562114G>C	ENST00000392957.2	+	7	1343	c.556G>C	c.(556-558)Gct>Cct	p.A186P	EPHB6_ENST00000442129.1_Missense_Mutation_p.A186P|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	186						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A171P(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACCCCACGGGGCTGGGCAGCG	0.637000													38	297					0	0	0.864702	0	0
AKNA	80709	broad.mit.edu	37	9	117124771	117124771	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:117124771C>G	ENST00000307564.4	-	8	1992	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	AKNA_ENST00000312033.3_Missense_Mutation_p.E611Q|AKNA_ENST00000223791.3_Missense_Mutation_p.E71Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E530Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E611Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E611Q(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTCAGGTACTCCTCCTCTAGG	0.652000													3	7					0	0	0.115264	0	0
TGM4	7047	broad.mit.edu	37	3	44948497	44948497	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:44948497A>G	ENST00000296125.4	+	10	1200	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	378					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.I378V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TGACATCTTTATTGTCTATGA	0.527000													6	64					0	0	0.217242	0	0
USH2A	7399	broad.mit.edu	37	1	216424377	216424377	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:216424377C>T	ENST00000366943.2	-	12	2421	c.2035G>A	c.(2035-2037)Gga>Aga	p.G679R	USH2A_ENST00000307340.3_Missense_Mutation_p.G679R|USH2A_ENST00000366942.3_Missense_Mutation_p.G679R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	679	Laminin EGF-like 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G679R(1)		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)		TTGTAGAATCCATTCTGGCAC	0.438000										HNSCC(13;0.011)			11	51					0	0	0.361761	0	0
CTNND2	1501	broad.mit.edu	37	5	11364898	11364898	+	Missense_Mutation	SNP	C	C	T	rs148824970	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:11364898C>T	ENST00000304623.8	-	8	1471	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	428					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V428I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCTGATAGACGCGGTCTTCA	0.617000													4	38					0	0	0.150653	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652348	34652348	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:34652348G>T	ENST00000314891.6	-	12	1383	c.1206C>A	c.(1204-1206)ggC>ggA	p.G402G		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	402					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	p.G402G(1)		NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCAGGCTCCTGCCCCCATCCA	0.602000													4	81					0.000602214	0.000705403	0.184627	1	0
LPPR4	9890	broad.mit.edu	37	1	99771542	99771542	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:99771542C>T	ENST00000370185.3	+	7	1765	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	LPPR4_ENST00000457765.1_Missense_Mutation_p.P365L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P265L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		423							phosphatidate phosphatase activity	p.P423L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCCAATACCCCATCTGTAGAA	0.483000													6	43					0	0	0.248553	0	0
UBR4	23352	broad.mit.edu	37	1	19449430	19449430	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:19449430C>A	ENST00000375267.2	-	66	9716	c.9713G>T	c.(9712-9714)cGt>cTt	p.R3238L	UBR4_ENST00000375254.3_Missense_Mutation_p.R3238L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3214L|UBR4_ENST00000375217.2_Missense_Mutation_p.R3231L			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3238					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3238L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGATCCCACGCACGTGAGA	0.547000													13	54					0.00316338	0.00357488	0.479597	1	0
CA4	762	broad.mit.edu	37	17	58234889	58234889	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:58234889A>T	ENST00000300900.4	+	4	469	c.370A>T	c.(370-372)Aag>Tag	p.K124*		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	124					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.K124*(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTGCCATATAAGGGCTCGGA	0.607000													23	127					0	0	0.639603	0	0
VIL1	7429	broad.mit.edu	37	2	219294032	219294032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:219294032C>T	ENST00000248444.5	+	7	680	c.592C>T	c.(592-594)Cga>Tga	p.R198*	VIL1_ENST00000440053.1_Nonsense_Mutation_p.R198*|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	198	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R198*(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGGAGATCCGAGACCAGGA	0.622000													6	70					0	0	0.307466	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140753949	140753949	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:140753949C>A	ENST00000517434.1	+	1	299	c.299C>A	c.(298-300)cCg>cAg	p.P100Q	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P100Q(1)|p.P100L(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGAGCCCGCGGTGTCTG	0.512000													13	57					0.00010058	0.000121219	0.411799	1	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													3	14					0	0	0.115264	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486066	41486066	+	Silent	SNP	C	C	G	rs148645268		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:41486066C>G	ENST00000359345.1	-	1	2843	c.267G>C	c.(265-267)ccG>ccC	p.P89P	SLFNL1_ENST00000302946.8_Silent_p.P89P|SLFNL1_ENST00000372611.1_Silent_p.P89P|SLFNL1_ENST00000439569.2_Silent_p.P89P|SLFNL1_ENST00000397197.2_Silent_p.P89P|SLFNL1_ENST00000372613.2_Silent_p.P89P	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	89							ATP binding	p.P89P(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				AGGCCTTCCGCGGCCGCCTCA	0.672000													8	55					0	0	0.278610	0	0
INHBE	83729	broad.mit.edu	37	12	57850274	57850274	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:57850274G>T	ENST00000266646.2	+	2	912	c.696G>T	c.(694-696)cgG>cgT	p.R232R	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	232					growth	extracellular region	growth factor activity|hormone activity	p.R232R(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GAGCAGGCCGGGCCAGGAGGA	0.607000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	75					1.52009e-12	2.86823e-12	0.479597	1	0
SPNS1	83985	broad.mit.edu	37	16	28990742	28990742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:28990742G>T	ENST00000311008.11	+	5	990	c.613G>T	c.(613-615)Gca>Tca	p.A205S	SPNS1_ENST00000352260.7_Missense_Mutation_p.A183S|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A205S|SPNS1_ENST00000323081.8_Missense_Mutation_p.A132S|SPNS1_ENST00000565975.1_Missense_Mutation_p.A250S|SPNS1_ENST00000561868.1_3'UTR	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	205					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	p.A205S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGCTACATTGCAGGCTCCAA	0.617000													16	72					1.33834e-09	2.20588e-09	0.557998	1	0
ZNF831	128611	broad.mit.edu	37	20	57768948	57768948	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:57768948G>C	ENST00000371030.2	+	1	2874	c.2874G>C	c.(2872-2874)tgG>tgC	p.W958C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	958						intracellular	nucleic acid binding|zinc ion binding	p.W958C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCATTCCCTGGGGACCAAGGC	0.592000													10	57					0	0	0.435327	0	0
PBX1	5087	broad.mit.edu	37	1	164789369	164789369	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:164789369T>G	ENST00000420696.2	+	7	1246	c.1058T>G	c.(1057-1059)cTc>cGc	p.L353R	PBX1_ENST00000540236.1_Missense_Mutation_p.L353R|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.L248R|PBX1_ENST00000540246.1_Missense_Mutation_p.L248R	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	353					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L353R(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GTGCAGTCACTCAATGGGGAT	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								6	76					0	0	0.217242	0	0
GH2	2689	broad.mit.edu	37	17	61958500	61958500	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:61958500G>T	ENST00000332800.7	-	3	313	c.180C>A	c.(178-180)gcC>gcA	p.A60A	GH2_ENST00000449787.2_Intron|GH2_ENST00000456543.2_Silent_p.A60A|GH2_ENST00000423893.2_Silent_p.A60A	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	60						extracellular region	hormone activity	p.A60A(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCAGGATATAGGCTTCTTCCT	0.517000													48	234					1.32667e-27	2.88136e-27	0.870114	1	0
FRG1	2483	broad.mit.edu	37	4	190883020	190883020	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:190883020A>G	ENST00000226798.4	+	8	895	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	225					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.K225E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TAAAATAAGTAAAGAAGACAG	0.308000													22	203					0	0	0.667858	0	0
MAP2	4133	broad.mit.edu	37	2	210561275	210561275	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:210561275G>T	ENST00000360351.4	+	8	4696	c.4190G>T	c.(4189-4191)aGg>aTg	p.R1397M	MAP2_ENST00000447185.1_Missense_Mutation_p.R1393M|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1397					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	p.R1397M(1)		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)	GATGATGATAGGAGCATCATG	0.343000													7	64					0.0477658	0.0505541	0.307466	1	0
LILRA2	11027	broad.mit.edu	37	19	55086241	55086241	+	Silent	SNP	G	G	C			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:55086241G>C	ENST00000251377.3	+	5	529	c.396G>C	c.(394-396)gtG>gtC	p.V132V	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.V132V|LILRA2_ENST00000251376.3_Silent_p.V132V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.V120V|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V132V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCAGCCCTGTGGTGACCTTAG	0.562000													22	79					0	0	0.681144	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518073	113518073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:113518073C>A	ENST00000284601.3	-	4	3142	c.3074G>T	c.(3073-3075)aGg>aTg	p.R1025M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1025					glycogen metabolic process	integral to membrane		p.R1025M(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTTCATGCCTTGCTTCTTC	0.398000													34	222					1.61788e-16	3.33988e-16	0.760397	1	0
OR52B6	340980	broad.mit.edu	37	11	5603032	5603032	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:5603032C>T	ENST00000345043.2	+	1	926	c.926C>T	c.(925-927)cCc>cTc	p.P309L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P309L(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTCAATCCCGTTATTTAT	0.438000													25	127					0	0	0.667858	0	0
MYO5B	4645	broad.mit.edu	37	18	47390574	47390574	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr18:47390574C>G	ENST00000285039.7	-	28	4079	c.3780G>C	c.(3778-3780)gaG>gaC	p.E1260D	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.E401D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1260					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.E1260D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGATGAGCACCTCCTCCTTGC	0.667000													15	47					0	0	0.479597	0	0
CPNE4	131034	broad.mit.edu	37	3	131404802	131404802	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr3:131404802C>A	ENST00000512055.1	-	10	2634	c.507_splice	c.e10-1	p.D170_splice	CPNE4_ENST00000429747.1_Splice_Site_p.D170_splice|CPNE4_ENST00000511604.1_Splice_Site_p.D170_splice|CPNE4_ENST00000502818.1_Splice_Site_p.D188_splice|CPNE4_ENST00000512332.1_Splice_Site_p.D188_splice			Q96A23	CPNE4_HUMAN	copine IV	170	C2 2.							p.D170Y(1)		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						CTGAAGAAATCCTAAAATAGA	0.373000													14	29					9.31168e-06	1.25257e-05	0.435327	1	0
VIT	5212	broad.mit.edu	37	2	37032694	37032694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:37032694G>T	ENST00000379242.3	+	14	1578	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	VIT_ENST00000401530.1_Nonsense_Mutation_p.E390*|VIT_ENST00000389975.3_Nonsense_Mutation_p.E411*|VIT_ENST00000404084.1_Nonsense_Mutation_p.E363*|VIT_ENST00000379241.3_Nonsense_Mutation_p.E389*|VIT_ENST00000497382.1_Nonsense_Mutation_p.E80*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	411	VWFA 1.					proteinaceous extracellular matrix		p.E426*(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGACAAAGTGGAGGAGGCTTC	0.498000													12	73					3.07112e-06	4.17152e-06	0.387290	1	0
HMGA2	8091	broad.mit.edu	37	12	66221815	66221815	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:66221815G>T	ENST00000541363.1	+	2	519	c.146G>T	c.(145-147)aGg>aTg	p.R49M	HMGA2_ENST00000536545.1_Missense_Mutation_p.R49M|HMGA2_ENST00000425208.2_Missense_Mutation_p.R49M|HMGA2_ENST00000403681.2_Missense_Mutation_p.R49M|HMGA2_ENST00000393578.3_Missense_Mutation_p.R49M|HMGA2_ENST00000393577.3_Missense_Mutation_p.R49M|HMGA2_ENST00000354636.3_Missense_Mutation_p.R49M			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	49	Interaction with E4F1.				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	p.R49M(2)	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AAGAGACCCAGGGGAAGACCC	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								7	35					0.00621372	0.006873	0.335167	1	0
FRMPD1	22844	broad.mit.edu	37	9	37746166	37746166	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:37746166C>A	ENST00000539465.1	+	16	4730	c.4137C>A	c.(4135-4137)ccC>ccA	p.P1379P	FRMPD1_ENST00000377765.3_Silent_p.P1379P|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1379						cytoskeleton|cytosol|plasma membrane		p.P1379P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TGGTTCTGCCCTGGAGGCCTG	0.652000													16	70					1.3612e-06	1.8984e-06	0.479597	1	0
RRP12	23223	broad.mit.edu	37	10	99144970	99144970	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:99144970C>A	ENST00000370992.4	-	10	1272	c.1161G>T	c.(1159-1161)ctG>ctT	p.L387L	RRP12_ENST00000536831.1_Silent_p.L105L|RRP12_ENST00000315563.6_Silent_p.L287L|RRP12_ENST00000414986.1_Silent_p.L326L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	387						integral to membrane|nuclear membrane|nucleolus	protein binding	p.L387L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCCAGGCTAGCAGGGGTTGTA	0.537000													18	97					3.62473e-10	6.11949e-10	0.608945	1	0
THUMPD1	55623	broad.mit.edu	37	16	20748556	20748556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr16:20748556C>A	ENST00000381337.2	-	4	1052	c.708G>T	c.(706-708)caG>caT	p.Q236H	THUMPD1_ENST00000396083.2_Missense_Mutation_p.Q236H|THUMPD1_ENST00000431224.2_Missense_Mutation_p.Q322H	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	236	THUMP.							p.Q236H(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CCACTGTGTACTGTGGATTGG	0.388000													13	81					4.3838e-07	6.41419e-07	0.435327	1	0
PAMR1	25891	broad.mit.edu	37	11	35515796	35515796	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:35515796C>A	ENST00000378880.2	-	2	543	c.98G>T	c.(97-99)tGc>tTc	p.C33F	PAMR1_ENST00000378878.3_Missense_Mutation_p.C33F|PAMR1_ENST00000278360.3_Missense_Mutation_p.C33F|PAMR1_ENST00000532848.1_5'UTR|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	33					proteolysis	extracellular region	serine-type endopeptidase activity	p.C33F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCCAGGGCAGGCTTCATT	0.483000													14	60					6.94344e-10	1.16282e-09	0.539581	1	0
GPR55	9290	broad.mit.edu	37	2	231775406	231775406	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:231775406G>T	ENST00000392040.1	-	2	464	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	GPR55_ENST00000392039.2_Missense_Mutation_p.P91Q	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	91					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	p.P91Q(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCACAGGGACGGGAAGGGGGA	0.567000													3	45					0.115264	0.118679	0.115264	1	0
ZNF347	84671	broad.mit.edu	37	19	53643937	53643937	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:53643937C>A	ENST00000452676.2	-	5	2573	c.2147G>T	c.(2146-2148)gGg>gTg	p.G716V	ZNF347_ENST00000601469.2_Missense_Mutation_p.G716V|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G715V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G715V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTGATT	0.428000													20	141					7.41877e-09	1.17628e-08	0.608945	1	0
COL5A2	1290	broad.mit.edu	37	2	189943287	189943287	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:189943287C>A	ENST00000374866.3	-	16	1288	c.1014G>T	c.(1012-1014)agG>agT	p.R338S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	338					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.R338S(1)		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)			CTGGCATTCCCCTCGGACCCT	0.428000													26	148					3.65163e-15	7.39189e-15	0.706142	1	0
PHLDB1	23187	broad.mit.edu	37	11	118498623	118498623	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:118498623A>T	ENST00000361417.2	+	7	1495	c.1084A>T	c.(1084-1086)Agc>Tgc	p.S362C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S362C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	362								p.S362C(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGGCCATCAGCCTGAGTGA	0.627000													13	33					0	0	0.411799	0	0
RXFP1	59350	broad.mit.edu	37	4	159568062	159568062	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:159568062G>A	ENST00000307765.5	+	16	1716	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R	RXFP1_ENST00000448688.2_Missense_Mutation_p.G384R|RXFP1_ENST00000343542.5_Missense_Mutation_p.G441R|RXFP1_ENST00000460056.2_Missense_Mutation_p.G408R|RXFP1_ENST00000470033.1_Missense_Mutation_p.G456R	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	489						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.G489R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCAGCTTGTAGGATCTTTGGC	0.388000													11	92					0	0	0.387290	0	0
TCERG1L	256536	broad.mit.edu	37	10	132891506	132891506	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr10:132891506C>A	ENST00000368642.4	-	12	1765	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	560	FF 2.							p.Q519H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		AAAAATGCTCCTGGTCCTTTC	0.398000													20	86					1.87028e-06	2.57395e-06	0.608945	1	0
ZNF479	90827	broad.mit.edu	37	7	57188426	57188426	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:57188426T>A	ENST00000331162.4	-	5	966	c.696A>T	c.(694-696)aaA>aaT	p.K232N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K232N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATGAATTATTTTATGTGTAG	0.383000													4	24					0	0	0.217242	0	0
OR10T2	128360	broad.mit.edu	37	1	158368884	158368884	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:158368884C>A	ENST00000334438.1	-	1	372	c.373G>T	c.(373-375)Gta>Tta	p.V125L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V125L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAATTGCTACATAGCGATCA	0.473000													25	93					5.45024e-15	1.09795e-14	0.654019	1	0
DCHS2	54798	broad.mit.edu	37	4	155226379	155226379	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:155226379G>T	ENST00000357232.3	-	16	3899	c.3900C>A	c.(3898-3900)gtC>gtA	p.V1300V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1300	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V1300V(1)		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)		GCTTGGAATTGACTCCTTAAG	0.338000													6	28					0.0215528	0.0230449	0.217242	1	0
CPA2	1358	broad.mit.edu	37	7	129919383	129919383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:129919383G>T	ENST00000222481.4	+	9	923	c.868G>T	c.(868-870)Gtg>Ttg	p.V290L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	290					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.V288L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAAATCCATAGTGGACTTCAT	0.493000													23	63					3.5997e-14	7.14797e-14	0.624587	1	0
ELF2	1998	broad.mit.edu	37	4	139980359	139980359	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:139980359C>A	ENST00000394235.2	-	10	2026	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ELF2_ENST00000265495.4_Missense_Mutation_p.Q508H|ELF2_ENST00000358635.3_Missense_Mutation_p.Q460H|ELF2_ENST00000379550.1_Missense_Mutation_p.Q520H|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Missense_Mutation_p.Q448H|ELF2_ENST00000379549.2_Missense_Mutation_p.Q431H	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	520					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	p.Q508H(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GAGGAGGAGTCTGGCCAGATG	0.478000													24	104					2.89027e-11	5.10696e-11	0.624587	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281193	49281193	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr13:49281193G>T	ENST00000282018.3	+	1	243	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	80					immune response	integral to membrane|plasma membrane		p.L80L(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGCTAAATCTGGCCATTTCAG	0.428000													15	64					7.93312e-07	1.11761e-06	0.457914	1	0
IL36RN	26525	broad.mit.edu	37	2	113820090	113820090	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:113820090C>A	ENST00000393200.2	+	5	465	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	IL36RN_ENST00000346807.3_Silent_p.R102R	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	102						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R102R(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTTCTACCGGCGGGACAT	0.612000													6	31					0.248553	0.25096	0.248553	1	0
SPEF2	79925	broad.mit.edu	37	5	35753776	35753776	+	Silent	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:35753776G>T	ENST00000440995.2	+	24	3366	c.3366G>T	c.(3364-3366)gcG>gcT	p.A1122A	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.A1127A			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1127					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.A1127A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGAGGCGGAGCAGGAGC	0.493000													22	114					1.22574e-08	1.9288e-08	0.624587	1	0
TP53	7157	broad.mit.edu	37	17	7574034	7574034	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:7574034C>A	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512000		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)			6	16					0.0293803	0.0312541	0.248553	1	0
ALDH3B2	222	broad.mit.edu	37	11	67432013	67432013	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr11:67432013C>G	ENST00000349015.3	-	8	1165	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.V243L	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	243					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.V243L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTCCTGCACGTCCACCAGC	0.662000													8	31					0	0	0.278610	0	0
MUC16	94025	broad.mit.edu	37	19	9061893	9061893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr19:9061893G>T	ENST00000397910.4	-	3	25756	c.25553C>A	c.(25552-25554)aCc>aAc	p.T8518N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8520	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8518N(2)|p.T4151N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCAAAAGGTTGTTGTTGA	0.502000													21	86					1.37657e-19	2.87014e-19	0.608945	1	0
MYOM2	9172	broad.mit.edu	37	8	2020568	2020568	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr8:2020568C>T	ENST00000262113.4	+	9	1078	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	313	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.R313C(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGTGCAGCCGCGCGCCGAGTG	0.592000													5	17					0	0	0.248553	0	0
AMER3	205147	broad.mit.edu	37	2	131519959	131519959	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:131519959C>A	ENST00000423981.1	+	2	424	c.314C>A	c.(313-315)aCg>aAg	p.T105K	AMER3_ENST00000321420.4_Missense_Mutation_p.T105K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.T105K(1)									GGCAGGGCCACGGCTGCCACA	0.662000													5	13					0.00116845	0.00134597	0.217242	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	19					0.00198382	0.00225409	0.248553	1	0
MSH6	2956	broad.mit.edu	37	2	48026966	48026966	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:48026966G>T	ENST00000234420.4	+	4	1996	c.1844G>T	c.(1843-1845)tGt>tTt	p.C615F	MSH6_ENST00000540021.1_Missense_Mutation_p.C485F|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.C313F	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	615					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCATTGTCCTGTTCTCTTCAG	0.393000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	124					0.00116845	0.00134597	0.217242	1	0
LYST	1130	broad.mit.edu	37	1	235918893	235918893	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:235918893T>A	ENST00000389794.3	-	25	7288	c.7114A>T	c.(7114-7116)Aag>Tag	p.K2372*	LYST_ENST00000389793.2_Nonsense_Mutation_p.K2372*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2372					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.K2372*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCACGATTCTTCAGAAATTTA	0.308000													57	251					0	0	0.870114	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712478	187712478	+	Silent	SNP	C	C	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:187712478C>T	ENST00000295131.2	-	2	249	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353000													11	93					0	0	0.411799	0	0
IL31RA	133396	broad.mit.edu	37	5	55168177	55168177	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:55168177C>A	ENST00000396834.1	+	6	791	c.295C>A	c.(295-297)Cca>Aca	p.P99T	IL31RA_ENST00000396836.2_Missense_Mutation_p.P118T|IL31RA_ENST00000354961.4_Missense_Mutation_p.P99T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.P118T|IL31RA_ENST00000359040.5_Missense_Mutation_p.P118T|IL31RA_ENST00000297015.3_5'UTR	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	86	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.P118T(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTTTCCTTCCAAGAATAAC	0.348000													18	63					9.16793e-09	1.44812e-08	0.520397	1	0
AKAP9	10142	broad.mit.edu	37	7	91712731	91712731	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:91712731G>T	ENST00000359028.2	+	34	8669	c.8444G>T	c.(8443-8445)gGa>gTa	p.G2815V	AKAP9_ENST00000358100.2_Missense_Mutation_p.G2815V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G2803V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2815					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.G2803V(1)|p.G2815V(1)		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)			AAAAATGCAGGAATACAAATT	0.358000			T	BRAF	papillary thyroid								15	56					4.93089e-13	9.56363e-13	0.457914	1	0
REC8	9985	broad.mit.edu	37	14	24648811	24648811	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:24648811G>A	ENST00000311457.3	+	18	1926	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	REC8_ENST00000559919.1_Missense_Mutation_p.E443K|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	444	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		p.E443K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GGCCTGGCCTGAGGTGGAGGC	0.622000													9	46					0	0	0.361761	0	0
RASAL1	8437	broad.mit.edu	37	12	113557022	113557022	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:113557022C>A	ENST00000546530.1	-	8	838	c.553G>T	c.(553-555)Gag>Tag	p.E185*	RASAL1_ENST00000548055.1_Nonsense_Mutation_p.E185*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.E185*|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.E185*|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	185	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.E185*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCCCGCAGCTCCAGCACTTCA	0.617000													13	36					9.31168e-06	1.25257e-05	0.435327	1	0
KIF21B	23046	broad.mit.edu	37	1	200960046	200960046	+	Splice_Site	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:200960046G>T	ENST00000332129.2	-	18	3002	c.2687_splice	c.e18+1	p.R896_splice	KIF21B_ENST00000422435.2_Splice_Site_p.R896_splice|KIF21B_ENST00000360529.5_Splice_Site_p.R896_splice|KIF21B_ENST00000461742.2_Splice_Site_p.R896_splice	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R896R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCACCTTACCGGGCAGGACGG	0.647000													12	44					2.80697e-09	4.55451e-09	0.387290	1	0
LRSAM1	90678	broad.mit.edu	37	9	130251778	130251778	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:130251778A>G	ENST00000323301.4	+	18	2007	c.1403A>G	c.(1402-1404)cAt>cGt	p.H468R	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.H468R|LRSAM1_ENST00000373324.4_Missense_Mutation_p.H468R|LRSAM1_ENST00000300417.6_Missense_Mutation_p.H468R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	468					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.H468R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACCTGATGCATCGGCAGATC	0.647000													3	8					0	0	0.115264	0	0
RHAG	6005	broad.mit.edu	37	6	49586929	49586929	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:49586929G>T	ENST00000371175.4	-	2	330	c.304C>A	c.(304-306)Caa>Aaa	p.Q102K	RHAG_ENST00000229810.7_Missense_Mutation_p.Q102K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	102					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.Q102K(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CCCTGGCTTTGCAGGATTCCC	0.443000													14	47					4.7546e-09	7.68477e-09	0.500413	1	0
ASPM	259266	broad.mit.edu	37	1	197112663	197112663	+	Missense_Mutation	SNP	G	G	A	rs140646088		TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:197112663G>A	ENST00000367409.4	-	3	975	c.719C>T	c.(718-720)tCt>tTt	p.S240F	ASPM_ENST00000294732.7_Missense_Mutation_p.S240F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	240					mitosis	cytoplasm|nucleus	calmodulin binding	p.S240F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGACGTACAGAGAGTGGCAA	0.363000													27	136					0	0	0.706142	0	0
TGFB2	7042	broad.mit.edu	37	1	218607527	218607527	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr1:218607527A>T	ENST00000366929.4	+	4	1165	c.698A>T	c.(697-699)gAt>gTt	p.D233V	TGFB2_ENST00000366930.4_Missense_Mutation_p.D205V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	205					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.D205V(1)|p.D233V(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GATGTAACTGATGCTGTTCAT	0.423000													27	125					0	0	0.667858	0	0
OTOF	9381	broad.mit.edu	37	2	26689581	26689581	+	Splice_Site	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:26689581C>A	ENST00000272371.2	-	36	4627		c.e36+1		OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000402415.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.?(3)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGTCTCACCCGGACCACA	0.587000													5	29					0.014758	0.0159432	0.184627	1	0
HOXA1	3198	broad.mit.edu	37	7	27135409	27135409	+	Silent	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr7:27135409C>A	ENST00000343060.4	-	1	184	c.123G>T	c.(121-123)gcG>gcT	p.A41A	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.A41A	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	41						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A41A(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGCGCTGACCGCGCACGACT	0.642000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	39					7.48243e-07	1.06855e-06	0.335167	1	0
LRFN5	145581	broad.mit.edu	37	14	42356224	42356224	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr14:42356224C>A	ENST00000554171.1	+	5	2828	c.396C>A	c.(394-396)aaC>aaA	p.N132K	LRFN5_ENST00000554120.1_Missense_Mutation_p.N132K|LRFN5_ENST00000298119.4_Missense_Mutation_p.N132K			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	132						integral to membrane		p.N132K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TACTGAACAACAATCAGCTGA	0.373000										HNSCC(30;0.082)			6	64					8.12818e-05	9.93974e-05	0.248553	1	0
IL36G	56300	broad.mit.edu	37	2	113742478	113742478	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr2:113742478G>A	ENST00000259205.4	+	5	431	c.362G>A	c.(361-363)cGt>cAt	p.R121H	IL36G_ENST00000376489.2_Missense_Mutation_p.R86H	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	121					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R121H(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTTTTCTACCGTGCCAAGACT	0.512000													12	60					0	0	0.479597	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45566945	45566945	+	RNA	SNP	C	C	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:45566945C>A	ENST00000256692.5	-	0	1740					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATCATACAACCTCATCAGAT	0.403000													7	47					3.09899e-07	4.55027e-07	0.307466	1	0
KCNB1	3745	broad.mit.edu	37	20	47989564	47989564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr20:47989564G>T	ENST00000371741.4	-	2	2699	c.2533C>A	c.(2533-2535)Cca>Aca	p.P845T		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	845					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P845T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCTCCCCCTGGCAACACACGG	0.532000													4	37					0.00024832	0.000295013	0.150653	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85518290	85518290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:85518290G>T	ENST00000393217.2	+	17	4061	c.4000G>T	c.(4000-4002)Gaa>Taa	p.E1334*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334								p.E1334*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAGCCTAGTGAAAAAATGTA	0.328000													30	196					4.22769e-11	7.4386e-11	0.706142	1	0
WDR19	57728	broad.mit.edu	37	4	39247011	39247011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr4:39247011delC	ENST00000399820.3	+	24	2822	c.2668delC	c.(2668-2670)ccfs	p.P890fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.P730fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	890					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGATCTTCTGCCCCACGTTTC	0.413													7	24	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26902602	26902602	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr5:26902602delG	ENST00000231021.4	-	7	1408	c.1236delC	c.(1234-1236)gcfs	p.A412fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	412	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						AATTGTTCCTGGCATCTGGAT	0.333													21	75	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	69666012	69666012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:69666012delC	ENST00000370598.1	+	7	2113	c.1292delC	c.(1291-1293)gcfs	p.A431fs		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	431	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCAGCTGCCCATGGAGGC	0.552													7	28	---	---	---	---					
AK9	221264	broad.mit.edu	37	6	109814724	109814726	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr6:109814724_109814726delTCT	ENST00000424296.2	-	41	5658_5660	c.5582_5584delAGA	c.(5581-5586)atg>a	p.KM1861del	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AACTGCTCCATCTTCTTCTTATA	0.369													44	136	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													3	5	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													3	3	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57963420	57963420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr12:57963420delG	ENST00000455537.2	+	11	1345	c.1071delG	c.(1069-1071)aafs	p.K357fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.K268fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	357					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						aggcccagaaggagaCGATTG	0.512													11	58	---	---	---	---					
NDN	4692	broad.mit.edu	37	15	23932034	23932034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr15:23932034delC	ENST00000331837.4	-	1	416	c.331delG	c.(331-333)tcfs	p.V111fs		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	111	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGGTCCTTGACCAGCACGTAC	0.652									Prader-Willi syndrome				10	49	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4713016	4713016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr17:4713016delC	ENST00000263088.6	+	8	776	c.645delC	c.(643-645)ggfs	p.G215fs	PLD2_ENST00000572940.1_Frame_Shift_Del_p.G215fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	215	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCTCAGGTGGCCACCGTGTTC	0.637													30	129	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													3	4	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37026894	37026894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:37026894delG	ENST00000358047.3	+	1	463	c.411delG	c.(409-411)ctfs	p.L137fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	137										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCCCAATCTGGGAGAAGATA	0.567													16	69	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	47ac71a9-20e1-43a4-b77c-c3d45a7df4d6	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													7	183	---	---	---	---					
WDR19	57728	broad.mit.edu	37	4	39247011	39247011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr4:39247011delC	ENST00000399820.3	+	24	2822	c.2668delC	c.(2668-2670)ccfs	p.P890fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.P730fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	890					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGATCTTCTGCCCCACGTTTC	0.413													7	24	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26902602	26902602	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr5:26902602delG	ENST00000231021.4	-	7	1408	c.1236delC	c.(1234-1236)gcfs	p.A412fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	412	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						AATTGTTCCTGGCATCTGGAT	0.333													21	75	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	69666012	69666012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr6:69666012delC	ENST00000370598.1	+	7	2113	c.1292delC	c.(1291-1293)gcfs	p.A431fs		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	431	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCAGCTGCCCATGGAGGC	0.552													7	28	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													3	5	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57963420	57963420	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr12:57963420delG	ENST00000455537.2	+	11	1345	c.1071delG	c.(1069-1071)aafs	p.K357fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.K268fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	357					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						aggcccagaaggagaCGATTG	0.512													11	58	---	---	---	---					
NDN	4692	broad.mit.edu	37	15	23932034	23932034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr15:23932034delC	ENST00000331837.4	-	1	416	c.331delG	c.(331-333)tcfs	p.V111fs		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	111	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGGTCCTTGACCAGCACGTAC	0.652									Prader-Willi syndrome				10	49	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4713016	4713016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chr17:4713016delC	ENST00000263088.6	+	8	776	c.645delC	c.(643-645)ggfs	p.G215fs	PLD2_ENST00000572940.1_Frame_Shift_Del_p.G215fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	215	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCTCAGGTGGCCACCGTGTTC	0.637													30	129	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37026894	37026894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6145-01A-11D-1753-08	TCGA-44-6145-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	220dc947-4afc-4485-bcc7-cea046100b4b	c6640ed6-0e4c-4905-b9ee-0c32fd6fa7ca	g.chrX:37026894delG	ENST00000358047.3	+	1	463	c.411delG	c.(409-411)ctfs	p.L137fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	137										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACCCCAATCTGGGAGAAGATA	0.567													16	69	---	---	---	---					
