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
KIAA1456	57604	broad.mit.edu	37	8	12879335	12879335	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:12879335G>A	ENST00000524591.2	+	5	1636	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	383							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTCTGCAGTTGATTCCACAGA	0.413000													8	20					0	0	0.003080	0	0
FRMD3	257019	broad.mit.edu	37	9	86153022	86153022	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:86153022G>C	ENST00000304195.3	-	1	331	c.125C>G	c.(124-126)tCg>tGg	p.S42W	FRMD3_ENST00000376438.1_Missense_Mutation_p.S42W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	42	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGAGATCTCCGAGTCGTCCAG	0.652000													4	3					0	0	0.000248	0	0
SPINT2	10653	broad.mit.edu	37	19	38779813	38779813	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:38779813G>A	ENST00000301244.7	+	4	808	c.373G>A	c.(373-375)Gat>Aat	p.D125N	CTB-102L5.4_ENST00000591889.1_Silent_p.A2A|SPINT2_ENST00000454580.3_Missense_Mutation_p.D68N|SPINT2_ENST00000587090.1_Missense_Mutation_p.D75N	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	125					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACTCCAGCGATATGTTCAA	0.557000													40	53					0	0	0.002222	0	0
TMEM176A	55365	broad.mit.edu	37	7	150498696	150498696	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:150498696G>C	ENST00000484928.1	+	2	639	c.58G>C	c.(58-60)Gat>Cat	p.D20H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.D20H|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	20						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCACATCGATGTGCACAT	0.652000													8	21					0	0	0.004482	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793565	100793565	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:100793565C>T	ENST00000361529.3	+	4	263	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	62					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCCGTGTGCACGGTGTCCCTG	0.667000													15	99					0	0	0.004007	0	0
OR10H2	26538	broad.mit.edu	37	19	15839226	15839226	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:15839226G>A	ENST00000305899.3	+	1	393	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGCTACGTGGCCATCTGCCA	0.642000													15	13					0	0	0.002780	0	0
ZNF664	144348	broad.mit.edu	37	12	124497004	124497004	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:124497004C>T	ENST00000539644.1	+	6	2143	c.313C>T	c.(313-315)Cat>Tat	p.H105Y	ZNF664_ENST00000337815.4_Missense_Mutation_p.H105Y|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.H105Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.H105Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCTTCAAATTCATATGAGAGT	0.408000													11	68					0	0	0.001368	0	0
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:112154981G>C	ENST00000457016.1	+	10	1632	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	APC_ENST00000508376.2_Missense_Mutation_p.E418Q|APC_ENST00000257430.4_Missense_Mutation_p.E418Q			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			6	26					0	0	0.003080	0	0
SERPINB10	5273	broad.mit.edu	37	18	61582871	61582871	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr18:61582871T>C	ENST00000238508.3	+	2	186	c.127T>C	c.(127-129)Tat>Cat	p.Y43H		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GACCATAGTGTATTTGGGCGC	0.453000													17	17					0	0	0.004990	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248311	70248311	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:70248311G>A	ENST00000265870.2	-	7	784	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SLC25A16_ENST00000539557.1_Missense_Mutation_p.S131L|SLC25A16_ENST00000493963.1_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	229					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATTGTCTGATGAAGGTCTGCC	0.383000													5	31					0	0	0.003080	0	0
OR14J1	442191	broad.mit.edu	37	6	29274772	29274772	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:29274772C>T	ENST00000377160.2	+	1	370	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTTTCTTCTTCATAGCTCTGG	0.438000													16	213					0	0	0.004990	0	0
GOSR2	9570	broad.mit.edu	37	17	45016025	45016025	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:45016025C>T	ENST00000576910.2	+	5	473	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	GOSR2_ENST00000393456.2_Missense_Mutation_p.R180W|GOSR2_ENST00000225567.4_Missense_Mutation_p.R180W|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R180W|GOSR2_ENST00000439730.2_Missense_Mutation_p.R180W			O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	180					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CACAGTGATGCGGCTCATCGA	0.493000													41	139					0	0	0.001951	0	0
GRIK1	2897	broad.mit.edu	37	21	30933950	30933950	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:30933950G>A	ENST00000399914.1	-	14	2827	c.2306C>T	c.(2305-2307)cCt>cTt	p.P769L	GRIK1_ENST00000389125.3_Missense_Mutation_p.P769L|GRIK1_ENST00000327783.4_Missense_Mutation_p.P784L|GRIK1_ENST00000309434.7_Missense_Mutation_p.P786L|GRIK1_ENST00000535441.1_Missense_Mutation_p.P786L|GRIK1_ENST00000399909.1_Missense_Mutation_p.P769L|GRIK1_ENST00000389124.2_Missense_Mutation_p.P784L|GRIK1_ENST00000399907.1_Missense_Mutation_p.P784L|GRIK1_ENST00000399913.1_Missense_Mutation_p.P784L			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	784					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTACCAATAGGTGTTCCCAC	0.468000													6	11					0	0	0.001168	0	0
STMN1	3925	broad.mit.edu	37	1	26228095	26228095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:26228095C>A	ENST00000399728.1	-	4	628	c.265G>T	c.(265-267)Gag>Tag	p.E89*	STMN1_ENST00000455785.2_Nonsense_Mutation_p.E89*|STMN1_ENST00000357865.2_Nonsense_Mutation_p.E89*|STMN1_ENST00000426559.2_Nonsense_Mutation_p.E89*|STMN1_ENST00000374291.1_Nonsense_Mutation_p.E89*|STMN1_ENST00000465604.1_5'UTR	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	89					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTGTTCTCTTCTATTGCC	0.438000													25	57					3.7963e-18	8.47934e-18	0.003330	1	0
SLC4A3	6508	broad.mit.edu	37	2	220494078	220494078	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:220494078G>A	ENST00000358055.3	+	4	942	c.430G>A	c.(430-432)Gag>Aag	p.E144K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E144K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E144K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E144K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E144K|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	144	Poly-Glu.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agaggaggaagaggaAGGAGA	0.617000													3	9					0	0	0.000602	0	0
NLK	51701	broad.mit.edu	37	17	26512286	26512286	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:26512286G>C	ENST00000407008.3	+	8	1949	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	411	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GTTGGTCTTTGATCCAGTAAG	0.333000													3	8					0	0	0.004672	0	0
ENG	2022	broad.mit.edu	37	9	130581094	130581094	+	Silent	SNP	G	G	C	rs45502392		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:130581094G>C	ENST00000344849.3	-	11	1609	c.1329C>G	c.(1327-1329)ctC>ctG	p.L443L	RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000373203.4_Silent_p.L443L|ENG_ENST00000480266.1_Intron|RP11-228B15.4_ENST00000425991.1_RNA			P17813	EGLN_HUMAN	endoglin	443	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGTCCATGTTGAGGCAGTGCA	0.627000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				34	155					0	0	0.004878	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	35					0	0	0.000602	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	40					0	0	0.000602	0	0
REV3L	5980	broad.mit.edu	37	6	111714122	111714122	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:111714122G>C	ENST00000435970.1	-	7	1201	c.385C>G	c.(385-387)Ctt>Gtt	p.L129V	REV3L_ENST00000358835.3_Missense_Mutation_p.L207V|REV3L_ENST00000368805.1_Missense_Mutation_p.L207V|REV3L_ENST00000368802.3_Missense_Mutation_p.L207V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	207					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTATCAGCAAGAGAATTTCCT	0.313000								DNA polymerases (catalytic subunits)					5	16					0	0	0.001168	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228143	140228143	+	Silent	SNP	C	C	T	rs146722772		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140228143C>T	ENST00000378122.3	+	1	787	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.L21L	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATCCTCGCAATGTGGG	0.562000													30	48					0	0	0.001786	0	0
LSG1	55341	broad.mit.edu	37	3	194392802	194392802	+	Silent	SNP	A	A	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:194392802A>T	ENST00000265245.5	-	1	404	c.90T>A	c.(88-90)acT>acA	p.T30T	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	30					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CCCAGGAGTCAGTGTGACGAT	0.562000													9	62					0	0	0.006214	0	0
C6orf226	441150	broad.mit.edu	37	6	42858486	42858486	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:42858486G>C	ENST00000408925.2	-	1	68	c.41C>G	c.(40-42)tCt>tGt	p.S14C		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	14										lung(2)	2						AGCTGAGGCAGAGGCCGGGGC	0.672000													14	92					0	0	0.003163	0	0
RAD50	10111	broad.mit.edu	37	5	131978009	131978009	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:131978009G>C	ENST00000378823.3	+	25	4293	c.3475G>C	c.(3475-3477)Gag>Cag	p.E1159Q	RAD50_ENST00000265335.6_Missense_Mutation_p.E1298Q|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000435042.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1298					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGTGCTCAGAGATTGTGAA	0.358000								Homologous recombination					6	22					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152599341	152599341	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:152599341C>T	ENST00000367255.5	-	98	19057	c.18456G>A	c.(18454-18456)ctG>ctA	p.L6152L	SYNE1_ENST00000448038.1_Silent_p.L6081L|SYNE1_ENST00000423061.1_Silent_p.L6081L|SYNE1_ENST00000265368.4_Silent_p.L6152L|SYNE1_ENST00000341594.5_Silent_p.L5764L|SYNE1_ENST00000356820.4_Silent_p.L676L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6152					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCCCTCCAGCAGCAGGT	0.522000										HNSCC(10;0.0054)			31	89					0	0	0.001786	0	0
GALNT8	26290	broad.mit.edu	37	12	4835792	4835792	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:4835792G>A	ENST00000252318.2	+	2	643	c.306G>A	c.(304-306)atG>atA	p.M102I	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	102						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TAAAGGCAATGGAAACCAAGG	0.453000													10	4					0	0	0.006214	0	0
PRIM1	5557	broad.mit.edu	37	12	57135352	57135352	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:57135352G>A	ENST00000338193.6	-	9	885	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	283					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TGTCATTTTTGATGTTATTCT	0.378000													6	62					0	0	0.001984	0	0
NBEA	26960	broad.mit.edu	37	13	36125086	36125086	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:36125086C>G	ENST00000540320.1	+	43	7257	c.6723C>G	c.(6721-6723)ttC>ttG	p.F2241L	NBEA_ENST00000400445.3_Missense_Mutation_p.F2241L|NBEA_ENST00000379939.2_Missense_Mutation_p.F2238L|NBEA_ENST00000310336.4_Missense_Mutation_p.F2241L|NBEA_ENST00000537702.1_Missense_Mutation_p.F34L			Q8NFP9	NBEA_HUMAN	neurobeachin	2241						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTTTAATTTCCCTGATCAAG	0.388000													14	27					0	0	0.002450	0	0
LGALSL	29094	broad.mit.edu	37	2	64685477	64685477	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:64685477T>C	ENST00000238875.5	+	5	888	c.434T>C	c.(433-435)tTt>tCt	p.F145S	LGALSL_ENST00000409537.2_Silent_p.L86L	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	145	Galectin.					intracellular	sugar binding										CACCAACTTTTTGATTTTTAC	0.393000													62	96					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)			14	8					0	0	0.004007	0	0
C3orf56	285311	broad.mit.edu	37	3	126915686	126915686	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:126915686C>A	ENST00000398112.1	+	2	398	c.158C>A	c.(157-159)aCt>aAt	p.T53N		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAGCCTGTAACTGACCTGGCC	0.612000													11	5					1.58986e-06	3.26509e-06	0.000673	1	0
SLC20A1	6574	broad.mit.edu	37	2	113420601	113420601	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:113420601G>A	ENST00000272542.3	+	11	2578	c.2039G>A	c.(2038-2040)tGa>tAa	p.*680*		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	0					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTCAGAATGTGAAGCTGTTTG	0.403000													13	78					0	0	0.003163	0	0
UBA2	10054	broad.mit.edu	37	19	34936003	34936003	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:34936003G>T	ENST00000439527.2	+	8	958	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	UBA2_ENST00000246548.4_Missense_Mutation_p.D250Y			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	250					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AACTGGATATGATCCAGTTAA	0.358000													23	35					7.88262e-20	1.77359e-19	0.003330	1	0
C12orf52	84934	broad.mit.edu	37	12	113629333	113629333	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:113629333C>T	ENST00000548278.1	+	4	1213	c.521C>T	c.(520-522)cCg>cTg	p.P174L	C12orf52_ENST00000549621.1_Missense_Mutation_p.P174L|C12orf52_ENST00000552495.1_Missense_Mutation_p.P198L|RP11-545P7.4_ENST00000552525.1_RNA	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	174	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						AAGACAGAGCCGGGGCCAGCG	0.637000													4	29					0	0	0.000248	0	0
SETD8	387893	broad.mit.edu	37	12	123892161	123892161	+	Silent	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:123892161C>A	ENST00000402868.3	+	8	1396	c.970C>A	c.(970-972)Cga>Aga	p.R324R	SETD8_ENST00000330479.4_Silent_p.R324R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	365	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CATCGCCTCCCGAGACATCGC	0.572000													4	28					0.00116845	0.00232172	0.001168	1	0
RNASE12	493901	broad.mit.edu	37	14	21058512	21058512	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:21058512G>A	ENST00000556526.1	-	1	470	c.371C>T	c.(370-372)tCc>tTc	p.S124F	AL163195.3_ENST00000555283.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000335950.4_5'UTR|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTCTGTGGGGGAATAGTGGTA	0.458000													10	55					0	0	0.000978	0	0
STRIP2	57464	broad.mit.edu	37	7	129122844	129122844	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:129122844G>C	ENST00000249344.2	+	20	2251	c.2211G>C	c.(2209-2211)caG>caC	p.Q737H	STRIP2_ENST00000435494.2_Missense_Mutation_p.Q737H	NM_020704.2	NP_065755.1			striatin interacting protein 2																		CCATTTACCAGAAAGTGCGTC	0.468000													4	19					0	0	0.000248	0	0
GLYAT	10249	broad.mit.edu	37	11	58480243	58480243	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:58480243T>C	ENST00000344743.3	-	4	447	c.306A>G	c.(304-306)ttA>ttG	p.L102L	GLYAT_ENST00000278400.3_Silent_p.L102L|GLYAT_ENST00000529732.1_Silent_p.L102L	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	102					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTTGAATCTGTAAATGCTGTT	0.408000													15	39					0	0	0.003163	0	0
RELN	5649	broad.mit.edu	37	7	103207077	103207077	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:103207077G>A	ENST00000428762.1	-	32	4877	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M	RELN_ENST00000343529.5_Missense_Mutation_p.T1573M|RELN_ENST00000424685.2_Missense_Mutation_p.T1573M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1573					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAAATGCCGTTGCAGGTGT	0.498000													15	28					0	0	0.003163	0	0
RET	5979	broad.mit.edu	37	10	43596058	43596058	+	Silent	SNP	G	G	A	rs151267865	byFrequency	TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:43596058G>A	ENST00000355710.3	+	2	457	c.225G>A	c.(223-225)acG>acA	p.T75T	RET_ENST00000340058.5_Silent_p.T75T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	75					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCTACGGCACGTACCGCACAC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	26					0	0	0.001984	0	0
ZNF552	79818	broad.mit.edu	37	19	58319454	58319454	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:58319454G>T	ENST00000391701.1	-	3	1347	c.1178C>A	c.(1177-1179)tCt>tAt	p.S393Y	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACGAAGTGAAGAGATTTGCCT	0.413000													11	70					7.03913e-09	1.53855e-08	0.001368	1	0
ANKHD1	54882	broad.mit.edu	37	5	139876307	139876307	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:139876307G>C	ENST00000297183.6	+	15	2572	c.2448G>C	c.(2446-2448)aaG>aaC	p.K816N	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.K816N|ANKHD1_ENST00000360839.2_Missense_Mutation_p.K816N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGATAAGATAGAAGAAC	0.373000													16	30					0	0	0.006122	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672051	61672051	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:61672051A>T	ENST00000394836.2	-	7	1023	c.866T>A	c.(865-867)gTg>gAg	p.V289E	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.V263E	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	289							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GGCCACCTTCACTGTGGGCAG	0.617000													23	19					0	0	0.002780	0	0
DNAH5	1767	broad.mit.edu	37	5	13830323	13830323	+	Splice_Site	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:13830323C>T	ENST00000265104.4	-	37	6166		c.e37-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCCAGTCCTTCGAAAGGA	0.363000									Kartagener syndrome				13	11					0	0	0.001855	0	0
ZAK	51776	broad.mit.edu	37	2	174081930	174081930	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:174081930A>C	ENST00000338983.3	+	11	1134	c.939A>C	c.(937-939)agA>agC	p.R313S	MLTK_ENST00000409176.2_Missense_Mutation_p.R313S|MLTK_ENST00000375213.3_Missense_Mutation_p.R313S|MLTK_ENST00000431503.2_Missense_Mutation_p.R212S|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000539448.1_Missense_Mutation_p.R313S	NM_133646.2	NP_598407.1																					AACGAGAAAGACGTTTAAAGA	0.522000													8	32					0	0	0.004482	0	0
VWA8	23078	broad.mit.edu	37	13	42277540	42277540	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:42277540G>T	ENST00000379310.3	-	27	3192	c.3124C>A	c.(3124-3126)Ctg>Atg	p.L1042M		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGTTCTGGCAGAGTCAACCTG	0.368000													8	15					9.70103e-10	2.13562e-09	0.000673	1	0
USH2A	7399	broad.mit.edu	37	1	216172259	216172259	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:216172259T>C	ENST00000366943.2	-	34	7013	c.6627A>G	c.(6625-6627)ttA>ttG	p.L2209L	USH2A_ENST00000307340.3_Silent_p.L2209L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2209	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATTACCAGGTAAAACGTATT	0.373000										HNSCC(13;0.011)			9	23					0	0	0.006214	0	0
GLG1	2734	broad.mit.edu	37	16	74525005	74525005	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:74525005A>G	ENST00000422840.2	-	8	1342	c.1343T>C	c.(1342-1344)aTt>aCt	p.I448T	GLG1_ENST00000447066.2_Missense_Mutation_p.I437T|GLG1_ENST00000205061.5_Missense_Mutation_p.I448T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	448						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATGGTGTTCAATCTCCCCCCG	0.522000													19	64					0	0	0.001216	0	0
NXF1	10482	broad.mit.edu	37	11	62566046	62566046	+	Splice_Site	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:62566046C>T	ENST00000532297.1	-	12	1647	c.1016_splice	c.e12-1	p.A340_splice	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Splice_Site_p.A340_splice			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	340	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGCGAATGGCGCTGTCAAGA	0.502000													30	59					0	0	0.002096	0	0
ISM2	145501	broad.mit.edu	37	14	77942387	77942387	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:77942387G>T	ENST00000393684.3	-	8	1394	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	ISM2_ENST00000342219.4_Missense_Mutation_p.L423M|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.L342M|ISM2_ENST00000412904.1_Missense_Mutation_p.L342M			Q6H9L7	ISM2_HUMAN	isthmin 2	423	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						AGGTCCCGCAGCATCTGGCTC	0.607000													67	12					7.577e-32	1.74328e-31	0.003610	1	0
C2CD3	26005	broad.mit.edu	37	11	73849987	73849987	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:73849987C>T	ENST00000334126.7	-	5	959	c.733G>A	c.(733-735)Gag>Aag	p.E245K	C2CD3_ENST00000313663.7_Missense_Mutation_p.E245K|C2CD3_ENST00000539061.1_Missense_Mutation_p.E245K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	245						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCAGGGTTCTCTGCAAAGCAT	0.378000													11	19					0	0	0.000978	0	0
ZC4H2	55906	broad.mit.edu	37	X	64139010	64139010	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chrX:64139010G>T	ENST00000545618.1	-	5	1021	c.458C>A	c.(457-459)gCa>gAa	p.A153E	ZC4H2_ENST00000337990.2_Missense_Mutation_p.A135E|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000374839.3_Missense_Mutation_p.A158E|ZC4H2_ENST00000447788.2_Intron			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	158							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCAGCGGCTGCAGCGGCCAG	0.587000													21	15					1.22574e-08	2.66011e-08	0.002299	1	0
SLC5A9	200010	broad.mit.edu	37	1	48703369	48703369	+	Silent	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:48703369G>T	ENST00000236495.5	+	12	1436	c.1386G>T	c.(1384-1386)ctG>ctT	p.L462L	SLC5A9_ENST00000438567.2_Silent_p.L437L|SLC5A9_ENST00000420136.2_3'UTR|SLC5A9_ENST00000533824.1_Silent_p.L458L	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	437						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TGGTGTTCCTGGTTGTCATCA	0.577000													11	41					4.68919e-08	1.00342e-07	0.000673	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918513	51918513	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:51918513C>G	ENST00000353836.5	-	7	1473	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E370Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E418Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E360Q|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E328Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E270Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E360Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E335Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E418Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	418	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTTCGTGCTCCACTTGAACC	0.672000													12	50					0	0	0.001368	0	0
TTC3	7267	broad.mit.edu	37	21	38537922	38537922	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:38537922G>C	ENST00000399017.2	+	33	6153	c.3406G>C	c.(3406-3408)Gag>Cag	p.E1136Q	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1136Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E1136Q	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1136					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGCAGAATATGAGTTTTTCCC	0.373000													33	113					0	0	0.003755	0	0
PKP2	5318	broad.mit.edu	37	12	33003796	33003796	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:33003796C>G	ENST00000340811.4	-	5	1390	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	PKP2_ENST00000070846.6_Missense_Mutation_p.D428H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	428					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATTTGTTGTCATTGTCTTCA	0.463000													28	60					0	0	0.002445	0	0
PCNT	5116	broad.mit.edu	37	21	47855999	47855999	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:47855999G>C	ENST00000359568.5	+	39	9041	c.8934G>C	c.(8932-8934)atG>atC	p.M2978I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2978					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGAGGCGATGAGGCAGCGGC	0.697000													10	21					0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1479756	1479756	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:1479756G>A	ENST00000283415.3	-	8	928	c.796C>T	c.(796-798)Cac>Tac	p.H266Y		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	266					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACTTGGTTGTGAAACTGACAC	0.448000											OREG0016481	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	0.001984	0	0
ARID4A	5926	broad.mit.edu	37	14	58831658	58831658	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:58831658C>G	ENST00000355431.3	+	20	3224	c.2851C>G	c.(2851-2853)Ctg>Gtg	p.L951V	ARID4A_ENST00000431317.2_Missense_Mutation_p.L951V|ARID4A_ENST00000395168.3_Missense_Mutation_p.L951V|ARID4A_ENST00000348476.3_Missense_Mutation_p.L951V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	951	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCAATGCCTCTGATCGGGCC	0.408000													24	49					0	0	0.002780	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764587	140764587	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140764587C>T	ENST00000518325.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTAGCCTTCGTCCTCGTAC	0.627000													8	25					0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79032782	79032782	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:79032782G>T	ENST00000446378.2	+	2	8225	c.8194G>T	c.(8194-8196)Gat>Tat	p.D2732Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2732						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTTGTCATGATGAAATAGA	0.393000													10	19					2.17888e-05	4.38642e-05	0.006214	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42375420	42375420	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:42375420C>G	ENST00000290472.3	-	8	742	c.648G>C	c.(646-648)gaG>gaC	p.E216D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	216					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGCTCTGTCTCTAGGGCTG	0.622000													8	15					0	0	0.004482	0	0
SCLT1	132320	broad.mit.edu	37	4	129857944	129857944	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:129857944C>G	ENST00000281142.5	-	18	2198	c.1695G>C	c.(1693-1695)gaG>gaC	p.E565D	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	565						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTCTTCCATCTCTCTCAATT	0.343000													3	24					0	0	0.004672	0	0
MROH7	374977	broad.mit.edu	37	1	55138776	55138776	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:55138776C>G	ENST00000414150.2	+	8	1890	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	MROH7_ENST00000454855.2_Missense_Mutation_p.Q56E|MROH7_ENST00000409996.1_Missense_Mutation_p.Q106E|MROH7_ENST00000545244.1_Missense_Mutation_p.Q106E|MROH7_ENST00000421030.2_Missense_Mutation_p.Q538E|MROH7_ENST00000339553.5_Missense_Mutation_p.Q538E|MROH7_ENST00000395690.2_Missense_Mutation_p.Q538E					maestro heat-like repeat family member 7																		TCTTTACCATCAGACCCTGGA	0.627000													8	24					0	0	0.004482	0	0
MTOR	2475	broad.mit.edu	37	1	11273609	11273609	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:11273609C>T	ENST00000361445.4	-	21	3208	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1044					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			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						TTGAGGTGTTCATGACCCAGA	0.448000													23	99					0	0	0.005443	0	0
FAM20B	9917	broad.mit.edu	37	1	179013004	179013004	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:179013004G>T	ENST00000263733.4	+	2	358	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	8						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GCAGCGAGTCGTGCTGTTAGC	0.468000													7	30					5.18039e-06	1.0498e-05	0.003080	1	0
SLC12A9	56996	broad.mit.edu	37	7	100463720	100463720	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:100463720C>T	ENST00000354161.3	+	14	2363	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	746						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTGCGGCCTCTTCCTGCTGC	0.697000													17	98					0	0	0.001216	0	0
PLEC	5339	broad.mit.edu	37	8	144992966	144992966	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:144992966C>T	ENST00000322810.4	-	32	11603	c.11434G>A	c.(11434-11436)Gag>Aag	p.E3812K	PLEC_ENST00000527096.1_Missense_Mutation_p.E3698K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3661K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3702K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3675K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3679K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3653K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3675K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3643K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3812	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGAGAGCCTCACGGAGGCTC	0.652000													9	51					0	0	0.000673	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139302345	139302345	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:139302345C>G	ENST00000298537.7	-	3	477	c.266G>C	c.(265-267)aGa>aCa	p.R89T	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R39T|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R112T	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	112						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGAAACTCTCTAAAAGAGAA	0.448000													12	99					0	0	0.003163	0	0
DENND4C	55667	broad.mit.edu	37	9	19372102	19372102	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:19372102G>A	ENST00000307015.9	+	29	5124	c.3372G>A	c.(3370-3372)caG>caA	p.Q1124Q	DENND4C_ENST00000434457.2_Silent_p.Q1936Q|DENND4C_ENST00000540671.1_Silent_p.Q981Q|DENND4C_ENST00000602925.1_Silent_p.Q1887Q|DENND4C_ENST00000380432.2_Silent_p.Q1651Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1651						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAGGTTGCAGAAAATTGATG	0.378000													24	58					0	0	0.003954	0	0
LNX2	222484	broad.mit.edu	37	13	28141976	28141976	+	Splice_Site	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:28141976G>C	ENST00000316334.3	-	4	785	c.655_splice	c.e4-1	p.T219_splice		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	219							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTGTTGTGTGGCTGCCAAGTT	0.363000													5	27					0	0	0.001168	0	0
LPAR4	2846	broad.mit.edu	37	X	78011031	78011031	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chrX:78011031C>G	ENST00000435339.2	+	2	1070	c.665C>G	c.(664-666)tCt>tGt	p.S222C	LPAR4_ENST00000373301.2_Missense_Mutation_p.S222C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	222						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGAATGTCTCTTGCTCTTCT	0.373000													8	18					0	0	0.003080	0	0
TTLL6	284076	broad.mit.edu	37	17	46846427	46846427	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:46846427C>T	ENST00000393382.3	-	15	2741	c.2600G>A	c.(2599-2601)aGg>aAg	p.R867K	TTLL6_ENST00000433608.2_Missense_Mutation_p.R560K	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	819						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACATGGGTCCCTCATAGCACT	0.507000													11	50					0	0	0.000673	0	0
PLEC	5339	broad.mit.edu	37	8	144992130	144992130	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:144992130C>T	ENST00000322810.4	-	32	12439	c.12270G>A	c.(12268-12270)atG>atA	p.M4090I	PLEC_ENST00000527096.1_Missense_Mutation_p.M3976I|PLEC_ENST00000356346.3_Missense_Mutation_p.M3939I|PLEC_ENST00000436759.2_Missense_Mutation_p.M3980I|PLEC_ENST00000345136.3_Missense_Mutation_p.M3953I|PLEC_ENST00000357649.2_Missense_Mutation_p.M3957I|PLEC_ENST00000354958.2_Missense_Mutation_p.M3931I|PLEC_ENST00000354589.3_Missense_Mutation_p.M3953I|PLEC_ENST00000398774.2_Missense_Mutation_p.M3921I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4090	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCCCTTCTTCATGGCCTGGT	0.612000													8	31					0	0	0.003080	0	0
MPDZ	8777	broad.mit.edu	37	9	13121878	13121878	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:13121878C>T	ENST00000319217.7	-	38	5338	c.5091G>A	c.(5089-5091)ctG>ctA	p.L1697L	MPDZ_ENST00000381015.4_Silent_p.L1697L|MPDZ_ENST00000447879.1_Silent_p.L1664L|MPDZ_ENST00000546205.1_Silent_p.L1711L|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Silent_p.L556L|MPDZ_ENST00000536827.1_Silent_p.L1664L|MPDZ_ENST00000541718.1_Silent_p.L1697L|MPDZ_ENST00000381022.2_Silent_p.L1697L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1697	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCGTCTGTCTCAGGACATTGA	0.478000													5	22					0	0	0.000602	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923359	9923359	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:9923359G>C	ENST00000396573.2	-	10	2237	c.1928C>G	c.(1927-1929)gCt>gGt	p.A643G	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A643G|GRIN2A_ENST00000535259.1_Missense_Mutation_p.A486G|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A643G|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A643G|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A643G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	643					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTGTAGCTAGCCAGGAATAT	0.502000													4	59					0	0	0.000602	0	0
MROH5	389690	broad.mit.edu	37	8	142444085	142444085	+	RNA	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:142444085C>T	ENST00000430863.1	-	0	4010					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCGACACCTTCTGGAGGAAGG	0.637000													5	17					0	0	0.000602	0	0
C14orf37	145407	broad.mit.edu	37	14	58605804	58605804	+	Silent	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:58605804C>G	ENST00000267485.7	-	2	467	c.273G>C	c.(271-273)tcG>tcC	p.S91S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	91						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTTTGTTAATCGAGAATGCTT	0.488000													8	66					0	0	0.003080	0	0
OPRK1	4986	broad.mit.edu	37	8	54141989	54141989	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:54141989G>A	ENST00000265572.3	-	4	1308	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.F248F|OPRK1_ENST00000520287.1_Silent_p.F337F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	337					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AACACCGCTTGAAGTTTTCAT	0.493000													4	40					0	0	0.000248	0	0
VCAM1	7412	broad.mit.edu	37	1	101190420	101190420	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:101190420G>C	ENST00000294728.2	+	4	1003	c.902G>C	c.(901-903)aGa>aCa	p.R301T	VCAM1_ENST00000370119.4_Missense_Mutation_p.R239T|VCAM1_ENST00000347652.2_Missense_Mutation_p.R301T|VCAM1_ENST00000370115.1_Missense_Mutation_p.R301T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	301	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAAAAACAGAAAAGAGGTG	0.378000													3	24					0	0	0.000248	0	0
FLT3	2322	broad.mit.edu	37	13	28636175	28636175	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:28636175G>T	ENST00000380982.4	-	3	278	c.197C>A	c.(196-198)gCg>gAg	p.A66E	FLT3_ENST00000537084.1_Missense_Mutation_p.A66E|FLT3_ENST00000241453.7_Missense_Mutation_p.A66E			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGTCTCAACGCACACCCGAG	0.537000			"""Mis, O"""		"""AML, ALL"""								66	23					7.1157e-29	1.62493e-28	0.003610	1	0
B3GAT1	27087	broad.mit.edu	37	11	134253852	134253852	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:134253852G>T	ENST00000524765.1	-	3	4887	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	B3GAT1_ENST00000312527.4_Missense_Mutation_p.L115I|B3GAT1_ENST00000537389.1_Missense_Mutation_p.L128I|B3GAT1_ENST00000392580.1_Missense_Mutation_p.L115I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	115					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGCCAGTGGAGGTTGGGCACG	0.706000													9	4					1.76689e-08	3.80753e-08	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179604792	179604792	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:179604792C>G	ENST00000589042.1	-	48	13392	c.13168G>C	c.(13168-13170)Gag>Cag	p.E4390Q	TTN_ENST00000342175.6_Missense_Mutation_p.E4219Q|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E4152Q|TTN_ENST00000460472.2_Missense_Mutation_p.E4027Q|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4073Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4073	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4152Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCTCTGCTCTTCTGGAATA	0.468000													20	28					0	0	0.001216	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038708	62038708	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr20:62038708C>G	ENST00000354587.3	-	17	2108	c.1932G>C	c.(1930-1932)aaG>aaC	p.K644N	KCNQ2_ENST00000370224.1_Missense_Mutation_p.K644N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K636N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.K636N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.K618N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K608N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.K605N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.K632N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.K606N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	636					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGAAGTCCAGCTTCTTCTCCA	0.642000													6	29					0	0	0.001168	0	0
KDELR1	10945	broad.mit.edu	37	19	48887602	48887602	+	Silent	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:48887602G>C	ENST00000597017.1	-	3	728	c.303C>G	c.(301-303)ctC>ctG	p.L101L	KDELR1_ENST00000330720.2_Silent_p.L163L			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	163					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		TCCAGTTGAAGAGATAGAGCG	0.562000													6	27					0	0	0.003080	0	0
PABPC4	8761	broad.mit.edu	37	1	40038208	40038208	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:40038208T>C	ENST00000372857.3	-	2	1036	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.I82V|PABPC4_ENST00000372858.3_Missense_Mutation_p.I82V|PABPC4_ENST00000372862.3_Missense_Mutation_p.I82V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	82	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGATGCGGATTGGCTTTCCC	0.448000													17	46					0	0	0.007413	0	0
IL17D	53342	broad.mit.edu	37	13	21295883	21295883	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:21295883C>A	ENST00000304920.3	+	3	507	c.399C>A	c.(397-399)agC>agA	p.S133R		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	133					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		GCTTCCGCAGCGCCCCTGTCT	0.716000													17	18					1.15088e-07	2.44561e-07	0.004007	1	0
SDAD1P1	157489	broad.mit.edu	37	8	26237273	26237273	+	RNA	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:26237273C>T	ENST00000519902.1	-	0	2675																											GTTCTTTTCTCATTTGCGCCA	0.483000													15	30					0	0	0.003163	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476912	77476912	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:77476912C>T	ENST00000296043.6	+	2	1272	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	107	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGGTAGTGCGCAGGTAGGT	0.587000													6	14					0	0	0.001168	0	0
VCAM1	7412	broad.mit.edu	37	1	101194797	101194797	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:101194797C>G	ENST00000294728.2	+	5	1164	c.1063C>G	c.(1063-1065)Ctg>Gtg	p.L355V	VCAM1_ENST00000370119.4_Missense_Mutation_p.L293V|VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	355	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGACAGCCCTCTGAGCGGGAA	0.527000													18	73					0	0	0.006122	0	0
LATS1	9113	broad.mit.edu	37	6	150004976	150004976	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:150004976G>C	ENST00000543571.1	-	4	1796	c.1249C>G	c.(1249-1251)Cat>Gat	p.H417D	LATS1_ENST00000253339.5_Missense_Mutation_p.H417D|LATS1_ENST00000392273.3_Missense_Mutation_p.H417D|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	417					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TCCATGTTATGACTATTTCTG	0.453000													29	108					0	0	0.007291	0	0
STX3	6809	broad.mit.edu	37	11	59564823	59564823	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:59564823C>T	ENST00000535361.1	+	9	1290	c.743C>T	c.(742-744)tCc>tTc	p.S248F	STX3_ENST00000300150.7_Missense_Mutation_p.S254F|STX3_ENST00000437946.2_Intron|STX3_ENST00000529177.1_Intron|STX3_ENST00000337979.4_Missense_Mutation_p.S285F			Q13277	STX3_HUMAN	syntaxin 3	285	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATTGGACTTTCCGTTGGGCTG	0.403000													8	58					0	0	0.006214	0	0
BUB1B	701	broad.mit.edu	37	15	40475921	40475921	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:40475921C>G	ENST00000287598.6	+	6	783	c.588C>G	c.(586-588)ttC>ttG	p.F196L	BUB1B_ENST00000412359.3_Missense_Mutation_p.F210L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	196	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTAGACAATTCCAAGCTCGAG	0.398000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				6	10					0	0	0.003080	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746696	37746696	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:37746696G>A	ENST00000539465.1	+	16	5260	c.4667G>A	c.(4666-4668)cGt>cAt	p.R1556H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R1556H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1556						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCTGGCCCGTCAGTGCACG	0.592000													24	75					0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38885911	38885911	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:38885911C>G	ENST00000359357.3	+	68	10122	c.9868C>G	c.(9868-9870)Ctg>Gtg	p.L3290V	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3254V|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3507V					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTGTTGCCTCTGAAGGTAAA	0.373000													6	46					0	0	0.001168	0	0
LCK	3932	broad.mit.edu	37	1	32751144	32751144	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:32751144C>G	ENST00000333070.4	+	13	1547	c.1447C>G	c.(1447-1449)Ctg>Gtg	p.L483V	LCK_ENST00000336890.5_Missense_Mutation_p.L453V|LCK_ENST00000373564.3_Missense_Mutation_p.L460V	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	453	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GATTCAGAACCTGGAGCGAGG	0.592000			T	TRB@	T-ALL								27	38					0	0	0.007291	0	0
TRIP11	9321	broad.mit.edu	37	14	92480716	92480716	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:92480716C>G	ENST00000267622.4	-	7	1402	c.1029G>C	c.(1027-1029)aaG>aaC	p.K343N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	343					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATTTGTCTCTTTTCCACAT	0.308000			T	PDGFRB	AML								15	32					0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13692194	13692194	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:13692194G>C	ENST00000265104.4	-	79	13878	c.13774C>G	c.(13774-13776)Cga>Gga	p.R4592G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4592					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4592*(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)					AAGTCCGTTCGAACTGGCTTC	0.468000									Kartagener syndrome				11	45					0	0	0.001368	0	0
SLC9B1	150159	broad.mit.edu	37	4	103910990	103910990	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:103910990G>A	ENST00000296422.7	-	3	319	c.178C>T	c.(178-180)Cta>Tta	p.L60L	SLC9B1_ENST00000394789.3_Silent_p.L60L	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	60						integral to membrane	solute:hydrogen antiporter activity	p.L60V(1)									ACTCCTCTTAGAGGACAAGAA	0.284000													7	13					0	0	0.004482	0	0
KPNA5	3841	broad.mit.edu	37	6	117023208	117023208	+	Silent	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:117023208T>C	ENST00000368564.1	+	6	610	c.462T>C	c.(460-462)aaT>aaC	p.N154N	KPNA5_ENST00000356348.1_Silent_p.N154N			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	151	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		CATTAACAAATATAGCATCTG	0.358000													6	40					0	0	0.001984	0	0
F2	2147	broad.mit.edu	37	11	46744741	46744741	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:46744741G>A	ENST00000311907.5	+	5	384	c.328G>A	c.(328-330)Gag>Aag	p.E110K	F2_ENST00000530231.1_Missense_Mutation_p.E110K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	110	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TAACTGTGCTGAGGGTCTGGG	0.582000													25	95					0	0	0.006320	0	0
GJA9	81025	broad.mit.edu	37	1	39340775	39340775	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:39340775C>A	ENST00000454994.2	-	2	1272	c.996G>T	c.(994-996)gaG>gaT	p.E332D	RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.E332D|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000357771.3_Missense_Mutation_p.E332D			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	332					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGTGGAAATCTCATTAGAAA	0.318000													13	35					4.3838e-07	9.12546e-07	0.001855	1	0
PML	5371	broad.mit.edu	37	15	74325578	74325578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:74325578G>T	ENST00000565898.1	+	5	1420	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	PML_ENST00000268059.6_Nonsense_Mutation_p.E494*|PML_ENST00000563500.1_Nonsense_Mutation_p.E446*|PML_ENST00000436891.3_Nonsense_Mutation_p.E494*|PML_ENST00000569965.1_Nonsense_Mutation_p.E494*|PML_ENST00000569477.1_Nonsense_Mutation_p.E494*|PML_ENST00000567543.1_Intron|PML_ENST00000435786.2_Nonsense_Mutation_p.E494*|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Nonsense_Mutation_p.E494*|PML_ENST00000359928.4_Intron|PML_ENST00000354026.6_Nonsense_Mutation_p.E446*|PML_ENST00000564428.1_Nonsense_Mutation_p.E446*|PML_ENST00000268058.3_Nonsense_Mutation_p.E494*			P29590	PML_HUMAN	promyelocytic leukemia	494					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GATGGAGTCTGAGGAGGGGAA	0.612000			T	"""RARA, PAX5"""	"""APL, ALL"""								10	19					7.48243e-07	1.54704e-06	0.006214	1	0
DMRT1	1761	broad.mit.edu	37	9	893951	893951	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:893951G>A	ENST00000382276.3	+	3	727	c.578G>A	c.(577-579)aGc>aAc	p.S193N	DMRT1_ENST00000569227.1_Missense_Mutation_p.S35N	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	193					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCTGTCACCAGCAGAGGGCAT	0.428000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	15					0	0	0.001523	0	0
ABCA13	154664	broad.mit.edu	37	7	48317992	48317992	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:48317992G>C	ENST00000435803.1	+	18	7225	c.7201G>C	c.(7201-7203)Gac>Cac	p.D2401H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2401					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAAGTCTGAGGACCTCTTCAA	0.383000													10	29					0	0	0.006214	0	0
MLEC	9761	broad.mit.edu	37	12	121132786	121132786	+	Missense_Mutation	SNP	T	T	G	rs144903763		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr12:121132786T>G	ENST00000228506.3	+	3	1002	c.574T>G	c.(574-576)Tac>Gac	p.Y192D	MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	192					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						AGGGAAACTCTACATTGAGTT	0.493000													38	93					0	0	0.003755	0	0
KIF14	9928	broad.mit.edu	37	1	200539118	200539118	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:200539118C>T	ENST00000367350.4	-	23	4020	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTGTTCTTCATCAAACTCC	0.289000													18	46					0	0	0.007413	0	0
PDE10A	10846	broad.mit.edu	37	6	165863740	165863740	+	Silent	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:165863740G>A	ENST00000366882.1	-	5	460	c.306C>T	c.(304-306)atC>atT	p.I102I	PDE10A_ENST00000354448.4_Silent_p.I102I|PDE10A_ENST00000539869.2_Silent_p.I112I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	102	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.I102I(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTATTTTAATGATGCTGCTCA	0.378000													17	60					0	0	0.007413	0	0
MALAT1	378938	broad.mit.edu	37	11	65266725	65266725	+	RNA	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:65266725G>A	ENST00000534336.1	+	0	1493					NR_002819.2																						TGAAGACTTAGAAGAGTAGCA	0.274000													10	4					0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19423145	19423145	+	Splice_Site	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:19423145C>G	ENST00000375267.2	-	92	13394		c.e92-1		UBR4_ENST00000467272.2_Splice_Site|UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000543981.1_Splice_Site|UBR4_ENST00000429347.2_Splice_Site|UBR4_ENST00000375224.1_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		tcttcttcatctAGGGGAGAA	0.493000													26	121					0	0	0.003954	0	0
PCDH18	54510	broad.mit.edu	37	4	138452016	138452016	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr4:138452016C>G	ENST00000344876.4	-	1	1613	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	PCDH18_ENST00000412923.2_Missense_Mutation_p.K409N|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.K189N|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	409	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTCATATGTCTTCTGAAGTT	0.383000													21	33					0	0	0.001882	0	0
FBXW9	84261	broad.mit.edu	37	19	12807158	12807158	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:12807158G>C	ENST00000380339.3	-	1	274	c.238C>G	c.(238-240)Ctg>Gtg	p.L80V	FBXW9_ENST00000587955.1_Missense_Mutation_p.L80V|FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.L80V			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	80	F-box.						protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GGAAGGCTCAGAAGGCCCGGC	0.711000													2	3					0	0	0.004672	0	0
ERMN	57471	broad.mit.edu	37	2	158177848	158177848	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:158177848G>A	ENST00000410096.1	-	3	1081	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	ERMN_ENST00000397283.2_Missense_Mutation_p.R277W|ERMN_ENST00000420719.2_Missense_Mutation_p.R244W|ERMN_ENST00000535935.1_Missense_Mutation_p.R158W	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	264						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTGATTTTCCGATAGGATATT	0.393000													14	102					0	0	0.002450	0	0
POLR2A	5430	broad.mit.edu	37	17	7417451	7417451	+	Silent	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:7417451C>A	ENST00000322644.6	+	29	6267	c.5868C>A	c.(5866-5868)ctC>ctA	p.L1956L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1956	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCTACAGTCTCACAAGCCCGG	0.662000													7	22					3.09899e-07	6.49513e-07	0.004482	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203499	140203499	+	Silent	SNP	G	G	A	rs151078612		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr5:140203499G>A	ENST00000529859.1	+	1	2139	c.2139G>A	c.(2137-2139)acG>acA	p.T713T	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.T713T|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T713T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTCACGCTGCTGCTGT	0.692000													14	34					0	0	0.001855	0	0
NRP2	8828	broad.mit.edu	37	2	206590657	206590657	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:206590657C>A	ENST00000360409.3	+	6	1632	c.841C>A	c.(841-843)Ctg>Atg	p.L281M	NRP2_ENST00000417189.1_Missense_Mutation_p.L281M|NRP2_ENST00000540178.1_Missense_Mutation_p.L281M|NRP2_ENST00000540841.1_Missense_Mutation_p.L281M|NRP2_ENST00000357785.5_Missense_Mutation_p.L281M|NRP2_ENST00000357118.4_Missense_Mutation_p.L281M|NRP2_ENST00000355117.4_Missense_Mutation_p.L281M|NRP2_ENST00000412873.2_Missense_Mutation_p.L281M|NRP2_ENST00000272849.3_Missense_Mutation_p.L281M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	281	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAATGTTCCTCTGGGCATGGA	0.537000													13	41					0.000219431	0.000438863	0.002450	1	0
TMEM184B	25829	broad.mit.edu	37	22	38641953	38641953	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr22:38641953C>T	ENST00000361906.3	-	3	554	c.346G>A	c.(346-348)Gac>Aac	p.D116N	TMEM184B_ENST00000361684.4_Missense_Mutation_p.D116N	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	116						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TCATAGCAGTCGCGGACGGTG	0.642000													5	9					0	0	0.001168	0	0
BAGE2	85319	broad.mit.edu	37	21	11047530	11047530	+	RNA	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:11047530C>A	ENST00000470054.1	-	0	724									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCGTTGAAGACAAAAAGTATG	0.348000													10	178					3.07112e-06	6.26508e-06	0.000978	1	0
NAALAD2	10003	broad.mit.edu	37	11	89880534	89880534	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr11:89880534A>C	ENST00000534061.1	+	3	461	c.231A>C	c.(229-231)gaA>gaC	p.E77D	NAALAD2_ENST00000525171.1_Missense_Mutation_p.E77D|NAALAD2_ENST00000375944.3_Missense_Mutation_p.E77D|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E77D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	77					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGAACAGAACAAAATTTCT	0.378000													20	26					0	0	0.001216	0	0
EFNB2	1948	broad.mit.edu	37	13	107148121	107148121	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr13:107148121C>T	ENST00000245323.4	-	3	623	c.474G>A	c.(472-474)atG>atA	p.M158I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	158					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TGAGGATCTTCATGGCTCTTG	0.468000													38	103					0	0	0.006999	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421266	89421266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr15:89421266G>A	ENST00000359595.3	-	5	1232	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	HAPLN3_ENST00000562889.1_Nonsense_Mutation_p.R402*	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	340	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCAAAGCTTCGGACCCCAGGC	0.662000													8	32					0	0	0.003080	0	0
GPR116	221395	broad.mit.edu	37	6	46847599	46847599	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr6:46847599G>A	ENST00000283296.7	-	9	1280	c.992C>T	c.(991-993)tCg>tTg	p.S331L	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.S331L|GPR116_ENST00000265417.7_Missense_Mutation_p.S331L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	331	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTGGACACCGAAGTCATGTT	0.453000													9	137					0	0	0.006214	0	0
SGIP1	84251	broad.mit.edu	37	1	67147963	67147963	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:67147963C>A	ENST00000371037.4	+	15	1303	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.A413E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	409	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GGACAAAGAGCAACTCCACCT	0.512000													50	73					2.29192e-23	5.19501e-23	0.003610	1	0
CCDC47	57003	broad.mit.edu	37	17	61842114	61842114	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr17:61842114T>C	ENST00000225726.5	-	3	740	c.358A>G	c.(358-360)Ata>Gta	p.I120V	CCDC47_ENST00000403162.3_Missense_Mutation_p.I120V|CCDC47_ENST00000582252.1_Missense_Mutation_p.I120V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	120						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ACAATCGTTATTGGGTCTTTA	0.343000													13	31					0	0	0.004007	0	0
POTEM	641455	broad.mit.edu	37	14	20020001	20020001	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:20020001C>T	ENST00000551509.1	-	1	271	c.220G>A	c.(220-222)Ggg>Agg	p.G74R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	74										endometrium(4)|kidney(1)|lung(4)	9						TTGCCGCTCCCCCTGCACCAG	0.587000													190	502					0	0	0.003610	0	0
ADRBK2	157	broad.mit.edu	37	22	26118370	26118370	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr22:26118370G>A	ENST00000324198.5	+	21	2212	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	674							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGGTACTGTGGAGCTCCCAAA	0.562000													5	23					0	0	0.001168	0	0
ADORA3	140	broad.mit.edu	37	1	112042915	112042915	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:112042915C>T	ENST00000241356.4	-	2	1019	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GAGTTTGTTCCGAATGATGTA	0.428000													10	33					0	0	0.006214	0	0
RALGAPB	57148	broad.mit.edu	37	20	37202806	37202806	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr20:37202806G>C	ENST00000262879.6	+	29	4440	c.4156G>C	c.(4156-4158)Gaa>Caa	p.E1386Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1383Q|RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E1165Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1386Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1386	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACAACTCTTGAAAAAGAAGT	0.398000													9	78					0	0	0.004482	0	0
NOMO1	23420	broad.mit.edu	37	16	14972646	14972646	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr16:14972646C>T	ENST00000287667.7	+	23	2883	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	904						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGTTTCGTTCCAACCTCTTGA	0.537000													42	123					0	0	0.003610	0	0
SAMD8	142891	broad.mit.edu	37	10	76924415	76924415	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:76924415C>T	ENST00000542569.1	+	3	694	c.591C>T	c.(589-591)atC>atT	p.I197I	SAMD8_ENST00000372687.3_Silent_p.I197I|SAMD8_ENST00000372690.3_Silent_p.I260I	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	197					sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCCTAGAATCCCATGGGCCT	0.408000													14	79					0	0	0.003163	0	0
PON2	5445	broad.mit.edu	37	7	95041643	95041643	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr7:95041643G>C	ENST00000536183.1	-	4	594	c.411C>G	c.(409-411)atC>atG	p.I137M	PON2_ENST00000222572.3_Missense_Mutation_p.I116M|PON2_ENST00000433091.2_Missense_Mutation_p.I116M	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	116					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			TGAAAGTGCTGATGCCATGTG	0.393000													20	38					0	0	0.002780	0	0
FEZF2	55079	broad.mit.edu	37	3	62358290	62358290	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:62358290G>C	ENST00000283268.3	-	2	548	c.254C>G	c.(253-255)tCa>tGa	p.S85*	FEZF2_ENST00000475839.1_Nonsense_Mutation_p.S85*|FEZF2_ENST00000486811.1_Nonsense_Mutation_p.S85*	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	85					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		CAGTGTCTTTGACGGCACCTC	0.716000													5	15					0	0	0.001984	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189308	11189308	+	Silent	SNP	G	G	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr8:11189308G>T	ENST00000382435.4	+	1	912	c.693G>T	c.(691-693)ctG>ctT	p.L231L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	231						integral to membrane											TGGTGGGGCTGCTGGGCTGTG	0.632000													10	62					2.27111e-07	4.79283e-07	0.001368	1	0
KIAA1984	84960	broad.mit.edu	37	9	139697160	139697160	+	Silent	SNP	C	C	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr9:139697160C>T	ENST00000338005.6	+	6	623	c.588C>T	c.(586-588)ctC>ctT	p.L196L	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	196										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		TGCAGAACCTCGTGGTCAACT	0.562000													28	83					0	0	0.005443	0	0
F5	2153	broad.mit.edu	37	1	169529792	169529793	+	Splice_Site	INS	-	-	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr1:169529792_169529793insT	ENST00000367796.3	-	4	786_787	c.586_splice	c.e4+1	p.D196_splice	F5_ENST00000546081.1_Splice_Site_p.D59_splice|F5_ENST00000367797.3_Splice_Site_p.D196_splice			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	196	F5/8 type A 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTGTTCTTACCTTTTTTACAGA	0.446													11	54	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467519	164467519	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr2:164467519delG	ENST00000333129.3	-	3	1137	c.823delC	c.(823-825)tgfs	p.L275fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	275	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTGAAGGCAGGTACGCTGAA	0.617													12	42	---	---	---	---					
ABHD5	51099	broad.mit.edu	37	3	43732525	43732526	+	Frame_Shift_Del	DEL	GA	GA	-	rs138695912		TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr3:43732525_43732526delGA	ENST00000458276.2	+	1	164_165	c.41_42delGA	c.(40-42)gfs	p.G14fs	ANO10_ENST00000495772.1_Intron	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	14					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCCGACACCGGAGAGAGGTAAG	0.733													8	25	---	---	---	---					
FAM21C	253725	broad.mit.edu	37	10	46250511	46250513	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr10:46250511_46250513delTGA	ENST00000336378.4	+	15	1486_1488	c.1368_1370delTGA	c.(1366-1371)ggt>gg	p.GD456del	FAM21C_ENST00000374362.2_In_Frame_Del_p.GD456del|FAM21C_ENST00000359860.4_In_Frame_Del_p.GD400del|FAM21C_ENST00000537517.1_In_Frame_Del_p.GD432del|FAM21C_ENST00000540872.1_In_Frame_Del_p.GD456del	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	456										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						atgatgatggtgatgatgatgac	0.507													7	22	---	---	---	---					
HSP90AA1	3320	broad.mit.edu	37	14	102552609	102552616	+	Frame_Shift_Del	DEL	GTATTGAT	GTATTGAT	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr14:102552609_102552616delGTATTGAT	ENST00000334701.7	-	3	747_754	c.466_473delATCAATAC	c.(466-474)tfs	p.INT156fs	HSP90AA1_ENST00000441629.2_5'UTR|HSP90AA1_ENST00000216281.8_Frame_Shift_Del_p.INT34fs	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	34					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CGAGTAGAAAGTATTGATGATCAATGAC	0.438													8	65	---	---	---	---					
GIPC1	10755	broad.mit.edu	37	19	14589262	14589262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr19:14589262delC	ENST00000393033.4	-	9	1237	c.968delG	c.(967-969)gcfs	p.G323fs	GIPC1_ENST00000591349.1_Frame_Shift_Del_p.G226fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.G226fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.G323fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.G226fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.G323fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	323					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCCAATGGCGCCCCAGACGTC	0.657													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047535	11047536	+	RNA	INS	-	-	T			TCGA-91-6840-01A-11D-1945-08	TCGA-91-6840-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09bc8542-4ea1-4599-91b3-d606425b37e2	087d5121-0e86-4be5-9e53-11efd5184752	g.chr21:11047535_11047536insT	ENST00000470054.1	-	0	718_719									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAGACAAAAAGTATGATACCC	0.342													13	234	---	---	---	---					
