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
RP11-478B9.1	0	broad.mit.edu	37	12	45457598	45457598	+	RNA	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:45457598G>A	ENST00000548424.1	+	0	448																											CTGTAACATCGTCACTGGTTC	0.502000													7	19					0	0	0.029380	0	0
LDLR	3949	broad.mit.edu	37	19	11224240	11224240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:11224240C>G	ENST00000558518.1	+	10	1575	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000557933.1_Missense_Mutation_p.S463C|LDLR_ENST00000545707.1_Missense_Mutation_p.S336C|LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	463					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACGGCGTCTCTTCCTATGAC	0.632000													10	27					0	0	0.093190	0	0
CORO1B	57175	broad.mit.edu	37	11	67208498	67208498	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:67208498G>A	ENST00000453768.2	-	6	924	c.854C>T	c.(853-855)tCt>tTt	p.S285F	CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCAGGCAGAGAAGCTAGGAA	0.657000													5	20					0	0	0.021553	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122650	12122650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:12122650C>G	ENST00000379388.2	+	4	2954	c.2622C>G	c.(2620-2622)ttC>ttG	p.F874L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	874					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGGCACTTTCTATGATGATG	0.473000													24	134					0	0	0.083992	0	0
C16orf11	146325	broad.mit.edu	37	16	615181	615181	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:615181C>G	ENST00000409413.3	+	3	1869	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	530										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCTCCCCCTCGCAG	0.692000													11	16					0	0	0.020292	0	0
OLA1	29789	broad.mit.edu	37	2	175006625	175006625	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:175006625C>T	ENST00000284719.3	-	5	723	c.477G>A	c.(475-477)atG>atA	p.M159I	OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I|OLA1_ENST00000409546.1_Missense_Mutation_p.M179I|OLA1_ENST00000428402.2_Missense_Mutation_p.M159I	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	159					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGGCCCAATCATTTCCTCAT	0.343000													16	87					0	0	0.033300	0	0
BCAM	4059	broad.mit.edu	37	19	45316587	45316587	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:45316587C>G	ENST00000391955.1	+	5	629	c.585C>G	c.(583-585)ccC>ccG	p.P195P	BCAM_ENST00000270233.6_Silent_p.P195P			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	195	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGTGCCCGTAGAGATGA	0.687000													18	41					0	0	0.049695	0	0
ORC2	4999	broad.mit.edu	37	2	201798698	201798698	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:201798698C>T	ENST00000234296.2	-	10	958		c.e10-1			NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTAAGTCACTCTGAAAGTGAA	0.348000													14	73					0	0	0.020292	0	0
BRAF	673	broad.mit.edu	37	7	140501295	140501295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:140501295G>C	ENST00000288602.6	-	6	837	c.777C>G	c.(775-777)ttC>ttG	p.F259L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	259					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTTGACAGCGGAAACCCTGGA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	31					0	0	0.014758	0	0
BRCA2	675	broad.mit.edu	37	13	32913203	32913203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:32913203G>A	ENST00000544455.1	+	11	4938	c.4711G>A	c.(4711-4713)Gag>Aag	p.E1571K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1571K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1571					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTACAGAGAGGCCTGTAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			45	31					0	0	0.048971	0	0
ATP2C1	27032	broad.mit.edu	37	3	130715584	130715584	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:130715584C>G	ENST00000510168.1	+	24	2737	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	ATP2C1_ENST00000533801.2_Silent_p.L724L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000359644.3_Silent_p.L729L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000504948.1_Silent_p.L713L|ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000393221.4_Silent_p.L763L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	729					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTAATCCTCTCAATGCCATGC	0.363000									Hailey-Hailey disease				35	85					0	0	0.059317	0	0
PPL	5493	broad.mit.edu	37	16	4934903	4934903	+	Silent	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:4934903G>C	ENST00000345988.2	-	22	3842	c.3753C>G	c.(3751-3753)ctC>ctG	p.L1251L	PPL_ENST00000590782.2_Silent_p.L1249L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1251					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCCTCCCTGAGCCGCTGAA	0.522000													14	59					0	0	0.024245	0	0
WDR47	22911	broad.mit.edu	37	1	109554140	109554140	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:109554140G>T	ENST00000357672.3	-	4	819	c.444C>A	c.(442-444)atC>atA	p.I148I	WDR47_ENST00000369962.3_Silent_p.I176I|WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369965.4_Silent_p.I176I|WDR47_ENST00000361054.3_Silent_p.I148I			O94967	WDR47_HUMAN	WD repeat domain 47	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TATCAGCAGGGATGAATTCTG	0.443000													42	100					6.45866e-13	7.3622e-13	0.104719	1	0
LRRC8A	56262	broad.mit.edu	37	9	131669481	131669481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:131669481C>T	ENST00000259324.5	+	3	561	c.38C>T	c.(37-39)aCg>aTg	p.T13M	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	13					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCGGACACGCAGCCAGCA	0.567000													9	20					0	0	0.047766	0	0
NBR1	4077	broad.mit.edu	37	17	41347008	41347008	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41347008A>G	ENST00000422280.1	+	14	2161	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V	NBR1_ENST00000341165.6_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V|NBR1_ENST00000389312.4_Missense_Mutation_p.I568V|NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	568	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCTGTTGGATATAAACATTGT	0.438000													8	26					0	0	0.047766	0	0
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532000													38	46					0	0	0.086207	0	0
CACYBP	27101	broad.mit.edu	37	1	174977767	174977767	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:174977767T>C	ENST00000367681.2	+	5	966	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CACYBP_ENST00000367679.2_Missense_Mutation_p.I152T|CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	152	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAGTTCTTATATTGTGTAGA	0.338000													51	36					0	0	0.048971	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19315939	19315939	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:19315939G>A	ENST00000454498.2	-	5	1862	c.849C>T	c.(847-849)ttC>ttT	p.F283F	CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000311540.4_Silent_p.F283F|CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	283					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAACCAACCTGAAATTCTGCA	0.443000													46	141					0	0	0.045515	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315378	22315378	+	RNA	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:22315378G>T	ENST00000390434.3	+	0	541																											GAGCGACGCGGCTGAGTACTT	0.507000													31	39					8.16721e-17	9.45677e-17	0.045705	1	0
GALNT11	63917	broad.mit.edu	37	7	151798008	151798008	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:151798008T>C	ENST00000434507.1	+	5	856		c.e5+2		GALNT11_ENST00000430044.2_Splice_Site|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site|GALNT11_ENST00000415421.1_Splice_Site			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GAATGCAGCGTATGTGCCTTA	0.448000													3	123					0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53834348	53834348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:53834348G>T	ENST00000288139.3	+	42	5174	c.5056G>T	c.(5056-5058)Gag>Tag	p.E1686*	CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1666*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1666					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAAGATGACGAGCCTGAGGA	0.463000													20	45					1.33834e-09	1.48704e-09	0.043863	1	0
HOXC4	3221	broad.mit.edu	37	12	54448755	54448755	+	Silent	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:54448755C>A	ENST00000430889.2	+	2	607	c.561C>A	c.(559-561)atC>atA	p.I187I	HOXC4_ENST00000303406.4_Silent_p.I187I	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAGAAGGATCGAGATCGCCC	0.537000													13	8					3.45872e-05	3.65826e-05	0.028581	1	0
PRRC2C	23215	broad.mit.edu	37	1	171509614	171509614	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:171509614A>G	ENST00000367742.3	+	16	3251	c.3009A>G	c.(3007-3009)agA>agG	p.R1003R	PRRC2C_ENST00000338920.4_Silent_p.R1001R|PRRC2C_ENST00000426496.2_Silent_p.R1001R|PRRC2C_ENST00000392078.3_Silent_p.R1003R			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1001							protein C-terminus binding										GCTCTAACAGAAGGGAAGAAG	0.403000													6	14					0	0	0.021553	0	0
PF4	5196	broad.mit.edu	37	4	74846999	74846999	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:74846999C>T	ENST00000296029.3	-	3	398	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	76					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	TTCCATTCTTCAGCGTGGCTC	0.488000													9	87					0	0	0.069234	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763371	5763371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763371C>A	ENST00000414202.2	+	19	2535	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M	KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	782						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTAGCTGTTCTGTTTGAAGA	0.478000													47	82					1.32667e-27	1.54427e-27	0.048971	1	0
GSG2	83903	broad.mit.edu	37	17	3629572	3629572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3629572G>A	ENST00000325418.4	+	1	2362	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	781	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACAGGACAATGCTGAACTTCA	0.433000													11	34					0	0	0.080935	0	0
ZNF462	58499	broad.mit.edu	37	9	109688481	109688481	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:109688481G>C	ENST00000277225.5	+	3	2577	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	763					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATATGGGTAAGAGATACCAGT	0.488000													7	30					0	0	0.029380	0	0
CCDC170	80129	broad.mit.edu	37	6	151936765	151936765	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:151936765T>C	ENST00000367290.5	+	10	2008	c.1919T>C	c.(1918-1920)aTg>aCg	p.M640T	CCDC170_ENST00000239374.7_Missense_Mutation_p.M633T			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	633																	ACCAGTGAAATGAAGACACTA	0.398000													38	45					0	0	0.098360	0	0
TTN	7273	broad.mit.edu	37	2	179449963	179449963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:179449963C>T	ENST00000589042.1	-	309	64732	c.64508G>A	c.(64507-64509)gGa>gAa	p.G21503E	TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19862E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19862	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCTTCTCCTTTTTTCCA	0.423000													32	189					0	0	0.050027	0	0
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493000													25	86					0	0	0.037714	0	0
NET1	10276	broad.mit.edu	37	10	5498902	5498902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:5498902G>A	ENST00000355029.4	+	12	1878	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	NET1_ENST00000380359.3_Missense_Mutation_p.R525Q|NET1_ENST00000542715.1_Missense_Mutation_p.R398Q	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGGCATCCGAAGAGCGAGG	0.493000													9	38					0	0	0.069234	0	0
HTR1E	3354	broad.mit.edu	37	6	87726086	87726086	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:87726086C>A	ENST00000305344.4	+	2	1737	c.1034C>A	c.(1033-1035)aCg>aAg	p.T345K	HTR1E_ENST00000369584.1_Missense_Mutation_p.T345K	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCTCTATACGAGTTTTAAT	0.438000													14	51					1.99824e-07	2.18712e-07	0.033300	1	0
PTPN14	5784	broad.mit.edu	37	1	214542824	214542824	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:214542824G>C	ENST00000366956.5	-	17	3441	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1083	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACATCTTCTGGACAGCCGTGA	0.438000													37	74					0	0	0.086207	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158508	26158508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:26158508C>G	ENST00000289316.2	+	1	135	c.111C>G	c.(109-111)agC>agG	p.S37R	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	37					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCAAGGAGAGCTATTCAGTGT	0.542000													17	166					0	0	0.049695	0	0
TAF8	129685	broad.mit.edu	37	6	42036204	42036204	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:42036204G>A	ENST00000372977.3	+	7	657	c.637_splice	c.e7-1	p.L213_splice	TAF8_ENST00000465926.1_Intron|TAF8_ENST00000372982.4_Splice_Site_p.L213_splice|TAF8_ENST00000494547.1_Splice_Site_p.L213_splice|TAF8_ENST00000456846.2_Splice_Site_p.L213_splice	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	213					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATTCGCCAGTGATTGCTGCCA	0.522000													54	395					0	0	0.048971	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363086	22363086	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:22363086G>A	ENST00000263160.3	+	2	536	c.99G>A	c.(97-99)aaG>aaA	p.K33K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	33					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCTGGAGAAGAAGCAAGACA	0.642000													11	45					0	0	0.093190	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798058	148798058	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:148798058T>C	ENST00000355220.5	+	5	1014	c.912T>C	c.(910-912)tgT>tgC	p.C304C	MAGEA11_ENST00000333104.4_Silent_p.C275C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	304	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCATACAGTGTAATGAGCAGA	0.502000													23	101					0	0	0.083992	0	0
GAREM	64762	broad.mit.edu	37	18	29847915	29847915	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:29847915G>C	ENST00000399218.4	-	6	2602	c.2547C>G	c.(2545-2547)atC>atG	p.I849M	GAREM_ENST00000269209.6_Missense_Mutation_p.I850M	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCTCTGAGAGGATTTCTTCCG	0.418000													6	34					0	0	0.021553	0	0
NPHP3	27031	broad.mit.edu	37	3	132435736	132435736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:132435736C>T	ENST00000326682.8	-	4	764	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	NPHP3_ENST00000337331.5_Missense_Mutation_p.E230K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	230					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCAATATTCACATTGGGTT	0.443000													15	74					0	0	0.024245	0	0
USH2A	7399	broad.mit.edu	37	1	215848775	215848775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:215848775C>T	ENST00000366943.2	-	63	12864	c.12478G>A	c.(12478-12480)Gct>Act	p.A4160T	USH2A_ENST00000307340.3_Missense_Mutation_p.A4160T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4160	Fibronectin type-III 27.				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)		ACAGTAGGAGCCAGCTGAGAG	0.542000										HNSCC(13;0.011)			12	46					0	0	0.105934	0	0
C10orf137	26098	broad.mit.edu	37	10	127429569	127429569	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:127429569G>C	ENST00000337623.3	+	16	2173		c.e16-1		C10orf137_ENST00000356792.4_Splice_Site	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCTAAACAGATACTTATTG	0.378000													29	100					0	0	0.041601	0	0
TNFSF8	944	broad.mit.edu	37	9	117666585	117666585	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:117666585T>C	ENST00000223795.2	-	4	444	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	111					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GACAACTTGGTTTTGTTTAGA	0.378000													48	46					0	0	0.048971	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599568	161599568	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161599568C>T	ENST00000294800.3	-	3	592	c.319_splice	c.e3+1	p.G107_splice	FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000367964.2_Splice_Site_p.G107_splice|FCGR3B_ENST00000531221.1_Splice_Site_p.G143_splice|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	107					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.468000													6	40					0	0	0.093190	0	0
MC4R	4160	broad.mit.edu	37	18	58038766	58038766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:58038766G>A	ENST00000299766.3	-	1	1235	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	273					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TATGGATTCTGAGGACAAGAG	0.423000													13	51					0	0	0.105934	0	0
NEFL	4747	broad.mit.edu	37	8	24813613	24813613	+	RNA	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:24813613G>C	ENST00000221169.5	-	0	1011							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTCCTGCTCGTACAGCGCCC	0.682000													4	11					0	0	0.009096	0	0
ZNF689	115509	broad.mit.edu	37	16	30621254	30621254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30621254A>G	ENST00000287461.3	-	1	446	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGAGAAGTACACGGCCACG	0.692000													2	11					0	0	0.004672	0	0
PEAR1	375033	broad.mit.edu	37	1	156884446	156884446	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:156884446C>T	ENST00000338302.3	+	24	3195	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	PEAR1_ENST00000292357.7_Silent_p.D990D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	990	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGACCGAGACTCTGTGGGCT	0.607000													22	65					0	0	0.062417	0	0
NUDT12	83594	broad.mit.edu	37	5	102894586	102894586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:102894586C>G	ENST00000230792.2	-	3	886	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	264						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGCTTCTTTTTCTTTC	0.373000													3	7					0	0	0.009096	0	0
AP2M1	1173	broad.mit.edu	37	3	183894784	183894784	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:183894784G>C	ENST00000382456.3	+	2	317	c.3G>C	c.(1-3)atG>atC	p.M1I	AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I|AP2M1_ENST00000292807.5_Start_Codon_SNP_p.M1I	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	1					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCGCCATGATTGGAGGCT	0.582000													6	38					0	0	0.029380	0	0
ZNF675	171392	broad.mit.edu	37	19	23836955	23836955	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:23836955T>C	ENST00000359788.4	-	4	948	c.780A>G	c.(778-780)gaA>gaG	p.E260E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	260					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGCCACATTCTTCACATT	0.353000													10	31					0	0	0.058154	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171169	4171169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:4171169C>T	ENST00000602147.1	+	7	945	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	CREB3L3_ENST00000078445.2_Silent_p.V324V|CREB3L3_ENST00000595923.1_Silent_p.V323V|CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000252587.3_Intron			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTGTGTCGCAGTGAGTC	0.602000													21	23					0	0	0.062417	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566417	27566417	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:27566417T>A	ENST00000359541.2	-	2	434	c.5A>T	c.(4-6)gAt>gTt	p.D2V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	2						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCAGGTATCCATCAGCAC	0.517000													39	70					0	0	0.042209	0	0
HNF1A	6927	broad.mit.edu	37	12	121426777	121426777	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:121426777G>A	ENST00000257555.6	+	2	694	c.468G>A	c.(466-468)acG>acA	p.T156T	HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000543427.1_Silent_p.T39T			P20823	HNF1A_HUMAN	HNF1 homeobox A	156	Interaction with DNA.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAAGACGCAGAAGCGGG	0.622000									Hepatic Adenoma, Familial Clustering of				10	19					0	0	0.069234	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763345	5763345	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763345A>G	ENST00000414202.2	+	19	2509	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R|KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	773						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTGCCTTTCCACATCAACATT	0.478000													41	67					0	0	0.092188	0	0
ACSM3	6296	broad.mit.edu	37	16	20781560	20781560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:20781560G>A	ENST00000289416.5	+	2	679	c.204G>A	c.(202-204)tgG>tgA	p.W68*	ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23*|ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68*	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	68					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGACCAATGGACTGATAAGG	0.428000													4	30					0	0	0.009096	0	0
M6PR	4074	broad.mit.edu	37	12	9095069	9095069	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:9095069T>C	ENST00000000412.3	-	6	1122	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	218					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GCTCCATTCCTTTGGCTCCCA	0.478000													47	269					0	0	0.048971	0	0
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:100547854G>A	ENST00000372905.2	-	0	205				TAF7L_ENST00000372907.3_Silent_p.D60D			Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562000													7	175					0	0	0.047766	0	0
LRRC16B	90668	broad.mit.edu	37	14	24532038	24532038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24532038G>A	ENST00000342740.5	+	29	2843	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	897										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACAGATGATGAACTTGGGAC	0.597000													8	85					0	0	0.047766	0	0
FAT1	2195	broad.mit.edu	37	4	187538164	187538164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:187538164C>A	ENST00000441802.2	-	11	9279	c.9070G>T	c.(9070-9072)Gaa>Taa	p.E3024*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3024	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTACCTTTTCACAAACTGGA	0.388000										HNSCC(5;0.00058)			13	22					7.93312e-07	8.55533e-07	0.020292	1	0
NUP210L	91181	broad.mit.edu	37	1	154067493	154067493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154067493C>G	ENST00000368559.3	-	15	2176	c.2105G>C	c.(2104-2106)gGa>gCa	p.G702A	NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	702						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGCTATTCCAATCTTCTC	0.443000													10	28					0	0	0.058154	0	0
NLRP1	22861	broad.mit.edu	37	17	5486123	5486123	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:5486123C>T	ENST00000345221.3	-	2	869	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000354411.3_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000577119.1_Silent_p.L105L|NLRP1_ENST00000572272.1_Silent_p.L105L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	105					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGAGACCCCAGGTGGGGTT	0.602000													3	32					0	0	0.004672	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	68					0	0	0.021553	0	0
FOXE3	2301	broad.mit.edu	37	1	47882290	47882290	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:47882290C>T	ENST00000335071.2	+	1	547	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	101					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACCGCTTCATCACCGAACGCT	0.667000													9	20					0	0	0.058154	0	0
CHPF2	54480	broad.mit.edu	37	7	150935153	150935153	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:150935153G>C	ENST00000035307.2	+	4	3218	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTGCGAGCAGAGGCCCCTTC	0.632000													6	43					0	0	0.047766	0	0
C1orf189	388701	broad.mit.edu	37	1	154171936	154171936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154171936C>G	ENST00000368525.3	-	4	298	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	91										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTGCCCATCTGATTTAGTT	0.478000													42	221					0	0	0.039052	0	0
GABRB3	2562	broad.mit.edu	37	15	26806279	26806279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:26806279G>A	ENST00000541819.2	-	9	1150	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294W			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	294					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGGTCTCCCGAAGGTGGGTG	0.473000													12	47					0	0	0.093190	0	0
DNAJC15	29103	broad.mit.edu	37	13	43643083	43643083	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:43643083A>T	ENST00000379221.2	+	3	602	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	60						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGCATTTCGGATCTGGAAACC	0.333000													7	12					0	0	0.038147	0	0
DONSON	29980	broad.mit.edu	37	21	34950680	34950680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr21:34950680G>C	ENST00000453626.1	-	10	1493	c.1489C>G	c.(1489-1491)Cgt>Ggt	p.R497G	DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000432378.1_Missense_Mutation_p.P474R|DONSON_ENST00000303071.5_Missense_Mutation_p.P545R			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CCCAAGTAACGGTATTTGACT	0.403000													9	71					0	0	0.058154	0	0
KLHL8	57563	broad.mit.edu	37	4	88106900	88106900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:88106900G>A	ENST00000273963.5	-	3	609	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	KLHL8_ENST00000512111.1_Missense_Mutation_p.P90S|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000498875.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	90	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTAAAGTAGGGAATAACACAA	0.373000													6	11					0	0	0.021553	0	0
STRBP	55342	broad.mit.edu	37	9	125909210	125909210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:125909210G>T	ENST00000447404.2	-	12	1566	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	STRBP_ENST00000348403.5_Missense_Mutation_p.S421Y|STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	421	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACATCTACAGACATTGTGAA	0.453000													27	56					2.65835e-16	3.06197e-16	0.034045	1	0
USH1G	124590	broad.mit.edu	37	17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627000													4	60					0	0	0.009096	0	0
EPHA7	2045	broad.mit.edu	37	6	94120310	94120310	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:94120310C>T	ENST00000369303.4	-	3	925	c.741G>A	c.(739-741)agG>agA	p.R247R	EPHA7_ENST00000369297.1_Silent_p.R247R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	247	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCAGTGCATCCTGGGGGCGT	0.473000													9	37					0	0	0.047766	0	0
VWA5A	4013	broad.mit.edu	37	11	123989062	123989062	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:123989062A>G	ENST00000456829.2	+	5	664	c.413A>G	c.(412-414)gAt>gGt	p.D138G	VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	138										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGGAAGCAGATGGGGCTCTG	0.537000													15	89					0	0	0.033300	0	0
HDHD3	81932	broad.mit.edu	37	9	116136274	116136274	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:116136274G>A	ENST00000238379.5	-	2	1258	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L121L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	121							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CACTCCCTCAGGGTGTCCTCA	0.602000													27	102					0	0	0.108266	0	0
LTBP1	4052	broad.mit.edu	37	2	33588552	33588552	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:33588552A>C	ENST00000404816.2	+	29	4719	c.4366A>C	c.(4366-4368)Acg>Ccg	p.T1456P	LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAGCAAGGGACGTACTATGA	0.398000													14	92					0	0	0.024245	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573934	101573934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:101573934A>G	ENST00000326172.5	+	7	1587	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	491	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GTGGCTGCCAATCAGCATCTC	0.458000													21	102					0	0	0.091800	0	0
TMC2	117532	broad.mit.edu	37	20	2621930	2621930	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:2621930A>G	ENST00000358864.1	+	20	2669	c.2654A>G	c.(2653-2655)cAc>cGc	p.H885R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	885						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATTCTGGCCACGCCCCATCT	0.617000													3	47					0	0	0.004672	0	0
ARID2	196528	broad.mit.edu	37	12	46245941	46245941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:46245941C>A	ENST00000334344.6	+	15	4207	c.4035C>A	c.(4033-4035)gaC>gaA	p.D1345E	ARID2_ENST00000422737.1_Missense_Mutation_p.D1196E|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.D955E	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1345					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACAAATAGACATGCAAGATA	0.363000			"""N, S, F"""		hepatocellular carcinoma								11	35					0.0135373	0.0138521	0.093190	1	0
OBSCN	84033	broad.mit.edu	37	1	228509058	228509058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:228509058C>A	ENST00000570156.2	+	66	17461	c.17387C>A	c.(17386-17388)gCa>gAa	p.A5796E	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4839E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4839	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCCCAGCAGCCCCCTCT	0.622000													8	25					3.09899e-07	3.37513e-07	0.047766	1	0
FCGR3A	2214	broad.mit.edu	37	1	161518211	161518211	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161518211C>T	ENST00000367969.3	-	3	610	c.427_splice	c.e3+1	p.G143_splice	FCGR3A_ENST00000436743.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000540048.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000443193.1_Splice_Site_p.G142_splice|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	107	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.473000													4	59					0	0	0.038147	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882701	47882701	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:47882701G>T	ENST00000289672.2	-	34	5354	c.5304C>A	c.(5302-5304)gtC>gtA	p.V1768V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1768					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACTTTTAGCGACCAAAAATC	0.388000													10	21					2.17888e-05	2.32696e-05	0.058154	1	0
MYH3	4621	broad.mit.edu	37	17	10545560	10545560	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:10545560G>A	ENST00000583535.1	-	17	2043	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	MYH3_ENST00000226209.7_Silent_p.F652F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	652	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTACCCTGAAAAGGGCAG	0.388000													8	32					0	0	0.058154	0	0
TMEM64	169200	broad.mit.edu	37	8	91643854	91643854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:91643854C>T	ENST00000458549.2	-	2	1054	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	293						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AGGGTGGTACCCAAGTAAGAA	0.423000													106	51					0	0	0.048971	0	0
FOXO3	2309	broad.mit.edu	37	6	108984767	108984767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:108984767G>C	ENST00000406360.1	+	2	1074	c.731G>C	c.(730-732)gGa>gCa	p.G244A	FOXO3_ENST00000343882.6_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	244				PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAAGAGCGGAAAAGCCCCC	0.592000													9	19					0	0	0.058154	0	0
PEX1	5189	broad.mit.edu	37	7	92147568	92147568	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:92147568T>C	ENST00000248633.4	-	4	454	c.357_splice	c.e4-1	p.E120_splice	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120_splice	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	120					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGCATGCAGCTCCTAGAACCA	0.313000													24	36					0	0	0.091800	0	0
SGK1	6446	broad.mit.edu	37	6	134498960	134498960	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:134498960T>C	ENST00000528577.1	-	1	83	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SGK1_ENST00000367858.5_Intron	NM_001143677.1	NP_001137149.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGAGATGACATGAGAGCACGA	0.493000													5	13					0	0	0.021553	0	0
MROH1	727957	broad.mit.edu	37	8	145235189	145235189	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:145235189A>C	ENST00000528919.1	+	5	530	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	MROH1_ENST00000326134.5_Missense_Mutation_p.T137P|MROH1_ENST00000534366.1_Missense_Mutation_p.T137P|MROH1_ENST00000423230.2_Missense_Mutation_p.T137P|MROH1_ENST00000398656.4_Missense_Mutation_p.T137P	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		GCACCCTGGGACCCTGCCACA	0.697000													6	52					0	0	0.043863	0	0
EWSR1	2130	broad.mit.edu	37	22	29695245	29695245	+	Silent	SNP	C	C	T	rs138837921		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:29695245C>T	ENST00000397938.2	+	15	1921	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000332035.6_Silent_p.F478F|EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000414183.2_Silent_p.F539F|EWSR1_ENST00000332050.6_Silent_p.F461F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCAGAACTTCGCCTGGAGAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								27	102					0	0	0.041601	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268800	57268800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:57268800C>T	ENST00000278426.3	-	3	512	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	53					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGCTGCTCTCAGCTGAGGAG	0.607000													5	34					0	0	0.021553	0	0
ZNF616	90317	broad.mit.edu	37	19	52619847	52619847	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:52619847A>G	ENST00000600228.1	-	4	831	c.570T>C	c.(568-570)tgT>tgC	p.C190C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGGCTTTGCCACATTCATTAC	0.373000													41	83					0	0	0.039052	0	0
NKX3-2	579	broad.mit.edu	37	4	13544126	13544126	+	Missense_Mutation	SNP	C	C	T	rs61795263		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:13544126C>T	ENST00000382438.5	-	2	1128	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	165					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAACACCGTCGTCCTCGGTC	0.721000													4	20					0	0	0.009096	0	0
FCGBP	8857	broad.mit.edu	37	19	40376315	40376315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:40376315C>G	ENST00000221347.6	-	25	11996	c.11989G>C	c.(11989-11991)Gag>Cag	p.E3997Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3997	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCTACCTCATAGTAGACA	0.542000													6	28					0	0	0.038147	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245052	49245052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:49245052C>T	ENST00000332955.2	-	8	1295	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	250	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGACCTGTGACGTGAAAATTG	0.632000													9	27					0	0	0.047766	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	24					0	0	0.004672	0	0
SGCE	8910	broad.mit.edu	37	7	94257653	94257653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:94257653G>A	ENST00000415788.2	-	4	446	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SGCE_ENST00000265735.7_Missense_Mutation_p.P84L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000428696.2_Missense_Mutation_p.P84L|SGCE_ENST00000445866.2_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	84					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGTTATGGGATCATTACT	0.368000													13	22					0	0	0.105934	0	0
FCRL3	115352	broad.mit.edu	37	1	157666929	157666929	+	Splice_Site	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:157666929C>G	ENST00000368184.3	-	6	1136		c.e6+1		FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Splice_Site	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAGACACTCACTCTGTACACG	0.522000													17	24					0	0	0.043863	0	0
TENM1	10178	broad.mit.edu	37	X	123870838	123870838	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:123870838C>G	ENST00000422452.2	-	4	808	c.745G>C	c.(745-747)Gtc>Ctc	p.V249L	TENM1_ENST00000371130.3_Missense_Mutation_p.V249L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGTTCAGGACCCAGCTGTTA	0.502000													168	88					0	0	0.048971	0	0
ZNF598	90850	broad.mit.edu	37	16	2053657	2053657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:2053657C>T	ENST00000563630.1	-	2	372	c.130G>A	c.(130-132)Gat>Aat	p.D44N	ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	99						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTAGATATCATATTTCTTC	0.547000											OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	42					0	0	0.024245	0	0
AKAP9	10142	broad.mit.edu	37	7	91632007	91632007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:91632007G>C	ENST00000359028.2	+	9	3037	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	938	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTAGCAGAAACATTGGA	0.358000			T	BRAF	papillary thyroid								9	38					0	0	0.047766	0	0
ABCC10	89845	broad.mit.edu	37	6	43413457	43413457	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:43413457G>T	ENST00000244533.3	+	13	3426	c.3067G>T	c.(3067-3069)Gca>Tca	p.A1023S	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1051S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1051	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCAACGCGGCAGGCCTGCT	0.647000													8	56					0.000157383	0.000164096	0.038147	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572793	140572793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:140572793C>G	ENST00000239446.4	+	1	852	c.668C>G	c.(667-669)tCt>tGt	p.S223C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		223	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGTCTGGGACCTCT	0.552000													28	70					0	0	0.099896	0	0
WWC1	23286	broad.mit.edu	37	5	167887709	167887709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:167887709C>T	ENST00000265293.4	+	20	3380	c.2878C>T	c.(2878-2880)Cga>Tga	p.R960*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	960	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTTTTGTTCGAAACTCCCT	0.507000													13	11					0	0	0.033300	0	0
PKP4	8502	broad.mit.edu	37	2	159488376	159488376	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:159488376G>T	ENST00000389757.3	+	8	1390	c.1265G>T	c.(1264-1266)aGc>aTc	p.S422I	PKP4_ENST00000389759.3_Missense_Mutation_p.S422I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	422					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCTATTACAGCCCAGTGTAC	0.527000										HNSCC(62;0.18)			22	62					1.96292e-10	2.20328e-10	0.055883	1	0
PTK2	5747	broad.mit.edu	37	8	141874416	141874416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:141874416G>A	ENST00000522684.1	-	5	674	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	149	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATACCTGTTGATAGAAGAAA	0.264000													11	134					0	0	0.093190	0	0
APC	324	broad.mit.edu	37	5	112176368	112176368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112176368G>A	ENST00000457016.1	+	16	5457	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1693K|APC_ENST00000257430.4_Missense_Mutation_p.E1693K			P25054	APC_HUMAN	adenomatous polyposis coli	1693	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATTCCTACAGAAGGCAGAAG	0.438000		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)			4	17					0	0	0.014758	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72169178	72169178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:72169178C>T	ENST00000555818.1	+	12	3950	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAATCCACGCCTAGCTGG	0.478000													8	27					0	0	0.038147	0	0
FSIP1	161835	broad.mit.edu	37	15	40057834	40057834	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40057834G>C	ENST00000350221.3	-	4	633	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	142										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTAGACCTTGCTTCTTAATT	0.323000													8	25					0	0	0.047766	0	0
VPS41	27072	broad.mit.edu	37	7	38781699	38781699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:38781699G>T	ENST00000310301.4	-	25	2199	c.2145C>A	c.(2143-2145)aaC>aaA	p.N715K	VPS41_ENST00000395969.2_Missense_Mutation_p.N690K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	715					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCCAATGTTGTTTAACAAGC	0.323000													6	27					0.000274275	0.000284625	0.047766	1	0
LTN1	26046	broad.mit.edu	37	21	30357237	30357237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr21:30357237C>T	ENST00000361371.4	-	4	502	c.352G>A	c.(352-354)Gac>Aac	p.D118N	LTN1_ENST00000389195.2_Missense_Mutation_p.D164N|LTN1_ENST00000389194.2_Missense_Mutation_p.D164N	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	118							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACGCGACGGTCATGATCCTAT	0.348000													10	17					0	0	0.058154	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045225	76045225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:76045225G>A	ENST00000335749.4	+	3	651	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	28	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCGCACTCGTCCAAAGCCC	0.557000													11	59					0	0	0.069234	0	0
DGKQ	1609	broad.mit.edu	37	4	959312	959312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:959312C>T	ENST00000273814.3	-	14	1658	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	529					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACACCACGGTGGCTGCA	0.652000													3	25					0	0	0.004672	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434882	118434882	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118434882G>C	ENST00000369209.3	-	12	1542	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	480							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCGCCCACCAGAAAGAGGAAC	0.622000													4	12					0	0	0.009096	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744911	87744911	+	Missense_Mutation	SNP	G	G	A	rs113844965		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:87744911G>A	ENST00000270583.5	-	9	1032	c.974C>T	c.(973-975)tCg>tTg	p.S325L	KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	325										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAACTCGCCCGACAGGCTCTC	0.582000													9	33					0	0	0.047766	0	0
SPG7	6687	broad.mit.edu	37	16	89603249	89603249	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:89603249C>G	ENST00000341316.2	+	10	1408	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	347					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCTCCTGTCTCACGGAGCCCA	0.582000													31	146					0	0	0.064281	0	0
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:130409627G>T	ENST00000370904.1	-	22	3892	c.2982C>A	c.(2980-2982)caC>caA	p.H994Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.H1003Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527000													11	71					2.35188e-11	2.66708e-11	0.038395	1	0
SP3	6670	broad.mit.edu	37	2	174819640	174819640	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:174819640T>C	ENST00000310015.6	-	4	2130	c.1600A>G	c.(1600-1602)Ata>Gta	p.I534V	SP3_ENST00000455789.2_Missense_Mutation_p.I481V|SP3_ENST00000418194.2_Missense_Mutation_p.I466V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	534	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTAGCTGTATACCAGCAGAA	0.423000													35	57					0	0	0.064281	0	0
TGS1	96764	broad.mit.edu	37	8	56699563	56699563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:56699563G>A	ENST00000260129.5	+	4	1583	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	369					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGTAATGGAGGAACCAATGAG	0.438000													5	52					0	0	0.014758	0	0
CDH4	1002	broad.mit.edu	37	20	60511842	60511842	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:60511842C>T	ENST00000360469.5	+	16	2680	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	CDH4_ENST00000543233.1_Silent_p.S790S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	864					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTATGACTCCCTGCTGGTCT	0.637000													22	22					0	0	0.069288	0	0
APC	324	broad.mit.edu	37	5	112178407	112178407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178407G>T	ENST00000457016.1	+	16	7496	c.7116G>T	c.(7114-7116)caG>caT	p.Q2372H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H			P25054	APC_HUMAN	adenomatous polyposis coli	2372	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTAGACAGATGAGCCAAC	0.403000		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)			14	34					1.5842e-08	1.75138e-08	0.105934	1	0
OR1E1	8387	broad.mit.edu	37	17	3301357	3301357	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3301357C>T	ENST00000322608.2	-	1	347	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AGGCCATGGCCACAAGGAGGA	0.577000													13	26					0	0	0.105934	0	0
CACNB2	783	broad.mit.edu	37	10	18439891	18439891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:18439891G>A	ENST00000282343.8	+	2	338	c.116G>A	c.(115-117)aGt>aAt	p.S39N	CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000324631.7_Missense_Mutation_p.S67N	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	67					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTCAAATAGTTTTGTTCGC	0.313000													8	78					0	0	0.093190	0	0
QSOX1	5768	broad.mit.edu	37	1	180165521	180165521	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:180165521C>G	ENST00000367602.3	+	12	1667	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	QSOX1_ENST00000367600.5_Silent_p.L531L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	531					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACTTCCTCAAGGCCCACT	0.617000													62	140					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	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)			16	32					0	0	0.024245	0	0
ADCY4	196883	broad.mit.edu	37	14	24789048	24789048	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24789048G>C	ENST00000310677.4	-	22	2746	c.2633C>G	c.(2632-2634)tCa>tGa	p.S878*	ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493000													6	76					0	0	0.038147	0	0
BAHD1	22893	broad.mit.edu	37	15	40750963	40750963	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40750963C>G	ENST00000561234.1	+	2	559	c.300C>G	c.(298-300)ccC>ccG	p.P100P	BAHD1_ENST00000416165.1_Silent_p.P100P|BAHD1_ENST00000560846.1_Silent_p.P100P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGCCCCCCAGCCCGGCCC	0.657000													4	41					0	0	0.009096	0	0
PTPN4	5775	broad.mit.edu	37	2	120712858	120712858	+	Missense_Mutation	SNP	G	G	T	rs143331305		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:120712858G>T	ENST00000263708.2	+	20	2710	c.1939G>T	c.(1939-1941)Gct>Tct	p.A647S	PTPN4_ENST00000544261.1_Missense_Mutation_p.A280S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	647						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGCTAGCTGAGGGGCT	0.403000													10	36					6.40141e-05	6.73833e-05	0.080935	1	0
DOCK2	1794	broad.mit.edu	37	5	169144446	169144446	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:169144446A>G	ENST00000256935.8	+	21	2170	c.2090A>G	c.(2089-2091)gAg>gGg	p.E697G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	697					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTCTGGAGGCTTACATC	0.463000													7	137					0	0	0.058154	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45679696	45679696	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:45679696A>T	ENST00000310806.4	-	14	3497	c.3039T>A	c.(3037-3039)gaT>gaA	p.D1013E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1013	Poly-Asp.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGGCAGAATATCATCATCAT	0.373000													14	97					0	0	0.020292	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722697	30722697	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:30722697G>A	ENST00000215790.7	-	1	338	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F58F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	58						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATGAAGCCGAACTTGTCGA	0.726000													10	24					0	0	0.058154	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													12	5					0	0	0.080935	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318000													6	291					0	0	0.038147	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90682924	90682924	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:90682924G>C	ENST00000371926.3	+	11	2212		c.e11-1		STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371922.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1								metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTTTCCTAGATATGCAAAC	0.313000													6	20					0	0	0.021553	0	0
CPXM2	119587	broad.mit.edu	37	10	125526664	125526664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:125526664G>A	ENST00000241305.3	-	10	1458	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	435					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCCAGCTCCGAGCCCTGGAG	0.552000													21	22					0	0	0.076483	0	0
ZNF208	7757	broad.mit.edu	37	19	22157311	22157311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:22157311A>C	ENST00000397126.4	-	4	673	c.525T>G	c.(523-525)tgT>tgG	p.C175W	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTATTCTTTACATTGCAAAT	0.328000													8	41					0	0	0.038147	0	0
ALPK2	115701	broad.mit.edu	37	18	56184167	56184167	+	Silent	SNP	G	G	T	rs61732436		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:56184167G>T	ENST00000361673.3	-	9	6126	c.5913C>A	c.(5911-5913)atC>atA	p.I1971I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1971	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGTTCCTTTGGATGAGCTCAT	0.502000													18	73					2.37509e-13	2.72146e-13	0.055883	1	0
MPP3	4356	broad.mit.edu	37	17	41888554	41888554	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41888554C>G	ENST00000398393.1	-	15	1610	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	MPP3_ENST00000398389.4_Missense_Mutation_p.K425N			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	425	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTCATGGCTCTTTCGGGGCC	0.488000													12	47					0	0	0.105934	0	0
TTC30A	92104	broad.mit.edu	37	2	178482633	178482633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:178482633T>A	ENST00000355689.4	-	1	1061	c.797A>T	c.(796-798)aAc>aTc	p.N266I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	266					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TACCTCATAGTTTCTCAGTTG	0.507000													40	80					0	0	0.111260	0	0
IZUMO4	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:2096977G>T	ENST00000395307.2	+	1	598	c.33G>T	c.(31-33)acG>acT	p.T11T	IZUMO4_ENST00000395296.1_Silent_p.T11T|IZUMO4_ENST00000395301.3_Silent_p.T11T	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	11						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGTGCCTGACGGCGGCGCTGG	0.672000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0.000978159	0.00100558	0.080935	1	0
ADAM17	6868	broad.mit.edu	37	2	9666273	9666273	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:9666273G>A	ENST00000310823.3	-	6	902	c.720C>T	c.(718-720)ggC>ggT	p.G240G	ADAM17_ENST00000497134.1_Silent_p.G240G	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	240	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTCCCCTCTGCCCATGTATC	0.383000													66	111					0	0	0.048971	0	0
RIPK1	8737	broad.mit.edu	37	6	3105891	3105891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:3105891G>C	ENST00000259808.4	+	9	1480	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H|RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	394	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGACAGGCAGACGAAACAGC	0.532000													26	65					0	0	0.091800	0	0
FAM188B	84182	broad.mit.edu	37	7	30818091	30818091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:30818091G>A	ENST00000265299.6	+	2	184	c.107G>A	c.(106-108)cGc>cAc	p.R36H	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	36										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGCCCACGCTCTGACCTC	0.438000													15	62					0	0	0.024245	0	0
GRIK3	2899	broad.mit.edu	37	1	37337827	37337827	+	Missense_Mutation	SNP	C	C	T	rs143358361		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:37337827C>T	ENST00000373091.3	-	4	710	c.694G>A	c.(694-696)Gac>Aac	p.D232N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	232					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D232N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCTGCAGTCGAAGATAATG	0.612000													4	22					0	0	0.009096	0	0
PDE12	201626	broad.mit.edu	37	3	57542169	57542169	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:57542169G>A	ENST00000311180.8	+	1	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	PDE12_ENST00000487257.1_Silent_p.L21L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	21							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGAGAAGCTGAGCCGGGCTG	0.692000													5	9					0	0	0.058154	0	0
PSME4	23198	broad.mit.edu	37	2	54155437	54155437	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:54155437T>C	ENST00000404125.1	-	11	1375	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGCAGGATATGTTCTACAGT	0.353000													4	24					0	0	0.009096	0	0
GRIA1	2890	broad.mit.edu	37	5	153085627	153085627	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:153085627G>A	ENST00000285900.5	+	11	2166	c.1823_splice	c.e11+1	p.R608_splice	GRIA1_ENST00000340592.5_Splice_Site_p.R608_splice|GRIA1_ENST00000448073.4_Splice_Site_p.R618_splice|GRIA1_ENST00000521843.2_Splice_Site_p.R539_splice|GRIA1_ENST00000518783.1_Splice_Site_p.R618_splice|GRIA1_ENST00000518142.1_Splice_Site_p.R528_splice	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	608					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTTCTCCCAGGTCAGTCAGC	0.403000													31	22					0	0	0.074837	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616773	77616773	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:77616773G>C	ENST00000521891.2	+	2	898	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTGGGCAGAATGCACAGA	0.488000										HNSCC(33;0.089)			27	21					0	0	0.099896	0	0
ZZEF1	23140	broad.mit.edu	37	17	3961378	3961378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3961378T>C	ENST00000381638.2	-	32	5199	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1692							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGAGATCATTGGGTTCCCA	0.458000													10	23					0	0	0.058154	0	0
ESPL1	9700	broad.mit.edu	37	12	53663848	53663848	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:53663848G>A	ENST00000257934.4	+	3	1213	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	ESPL1_ENST00000552462.1_Silent_p.L374L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	374					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTCTTCTGCAGCAGCTGC	0.537000													23	11					0	0	0.076483	0	0
ROS1	6098	broad.mit.edu	37	6	117681060	117681060	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:117681060A>G	ENST00000368508.3	-	23	3758	c.3560T>C	c.(3559-3561)gTt>gCt	p.V1187A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1187					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTAGCAAACGGCACTGAT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	83					0	0	0.093190	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183231	39183231	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:39183231A>G	ENST00000361883.5	-	1	223	c.177T>C	c.(175-177)agT>agC	p.S59S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	59	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGCAGCAACTGGAGCTGC	0.617000													4	53					0	0	0.014758	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610760	83610760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:83610760G>A	ENST00000265362.3	-	14	1843	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	510	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGGGAGCTGGGCAACCCCAGC	0.453000													6	25					0	0	0.021553	0	0
FZD1	8321	broad.mit.edu	37	7	90895581	90895581	+	Silent	SNP	C	C	T	rs150597135		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:90895581C>T	ENST00000287934.2	+	1	1799	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	462					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCACCATCCTGGCGCTGG	0.647000													27	86					0	0	0.108266	0	0
CD96	10225	broad.mit.edu	37	3	111296359	111296359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:111296359G>C	ENST00000283285.5	+	4	685	c.554G>C	c.(553-555)aGc>aCc	p.S185T	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	185	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAAAACAGCAGCACGGATTCT	0.423000									Opitz Trigonocephaly syndrome				62	331					0	0	0.048971	0	0
MSLNL	401827	broad.mit.edu	37	16	825511	825511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:825511G>C	ENST00000293892.3	-	5	1249	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCTGGGCAGAACGGCGCTC	0.682000													6	14					0	0	0.029380	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046878	55046878	+	Silent	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:55046878C>A	ENST00000335056.3	+	4	461	c.423C>A	c.(421-423)cgC>cgA	p.R141R	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TGAGCCTGCGCTGTCACTCAG	0.537000													30	30					7.65355e-07	8.29449e-07	0.050027	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668354	176668354	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176668354G>T	ENST00000367662.3	+	8	4029	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	955					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTGGAGCTGCTCTTCCAAC	0.592000													25	126					2.79863e-10	3.12538e-10	0.099896	1	0
KY	339855	broad.mit.edu	37	3	134323141	134323141	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:134323141G>A	ENST00000508956.1	-	10	1260	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S422S			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	422						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTAGATGTCGGAGTTGCCCT	0.562000													8	60					0	0	0.038147	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:9828063G>A	ENST00000506583.1	-	14	1711	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423000													40	77					0	0	0.042209	0	0
APC	324	broad.mit.edu	37	5	112178579	112178579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178579G>C	ENST00000457016.1	+	16	7668	c.7288G>C	c.(7288-7290)Gat>Cat	p.D2430H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2430H|APC_ENST00000257430.4_Missense_Mutation_p.D2430H			P25054	APC_HUMAN	adenomatous polyposis coli	2430	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTGAATCTGATAGATCAGA	0.373000		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)			17	34					0	0	0.049695	0	0
HR	55806	broad.mit.edu	37	8	21973860	21973860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:21973860G>A	ENST00000381418.4	-	18	4940	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y	HR_ENST00000312841.8_Missense_Mutation_p.H1099Y	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1154	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCCTGGTGGCAGAGCTGA	0.647000													11	13					0	0	0.069234	0	0
FDX1L	112812	broad.mit.edu	37	19	10426650	10426650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:10426650C>T	ENST00000452032.2	-	1	35	c.23G>A	c.(22-24)gGa>gAa	p.G8E	FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000393708.3_Missense_Mutation_p.G8E|FDX1L_ENST00000541276.1_Missense_Mutation_p.G11E|CTD-2369P2.12_ENST00000586529.1_Intron																							ACTCACGCCTCCCCGGGCCAT	0.662000													3	13					0	0	0.004672	0	0
C10orf71	118461	broad.mit.edu	37	10	50532323	50532323	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:50532323C>T	ENST00000374144.3	+	3	2021	c.1733C>T	c.(1732-1734)gCt>gTt	p.A578V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	578										endometrium(1)	1						GACCCTACAGCTGACCCCAGT	0.547000													14	8					0	0	0.020292	0	0
ESF1	51575	broad.mit.edu	37	20	13753183	13753183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:13753183C>T	ENST00000202816.1	-	5	1335	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGGCATCTTCAGGAATACTT	0.343000													17	904					0	0	0.024245	0	0
ENTPD6	955	broad.mit.edu	37	20	25199204	25199204	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:25199204G>A	ENST00000360031.2	+	10	1076	c.894G>A	c.(892-894)ctG>ctA	p.L298L	ENTPD6_ENST00000433259.2_Silent_p.L299L|ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000376652.4_Silent_p.L299L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	299						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGCTCGGGCTGATGTCGGCAC	0.657000													6	9					0	0	0.038147	0	0
PNLIP	5406	broad.mit.edu	37	10	118306919	118306919	+	Missense_Mutation	SNP	C	C	T	rs142749694		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118306919C>T	ENST00000369221.2	+	3	188	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	54					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.R54C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCAACACCCGCTTCCTCCT	0.468000													35	16					0	0	0.074837	0	0
MPZL1	9019	broad.mit.edu	37	1	167757121	167757121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:167757121C>T	ENST00000359523.2	+	6	975	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	258					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ATTAACAAGTCAGAGTCTGTG	0.438000													24	30					0	0	0.083992	0	0
PHKA2	5256	broad.mit.edu	37	X	18912411	18912411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:18912411G>A	ENST00000379942.4	-	32	4113	c.3448C>T	c.(3448-3450)Ctc>Ttc	p.L1150F	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1150					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTGTCCGAGAGCAGCGTCAGC	0.612000													28	12					0	0	0.108266	0	0
GDF11	10220	broad.mit.edu	37	12	56143303	56143303	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:56143303T>C	ENST00000257868.5	+	3	898	c.861T>C	c.(859-861)ctT>ctC	p.L287L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	287					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCATGGAGCTTCGAGTCCTAG	0.572000													3	64					0	0	0.014758	0	0
ASPM	259266	broad.mit.edu	37	1	197071233	197071233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:197071233C>G	ENST00000367409.4	-	18	7404	c.7148G>C	c.(7147-7149)aGa>aCa	p.R2383T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2383					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGTCTTTGTCTGAGATAATG	0.433000													37	151					0	0	0.086207	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364880	30364880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30364880G>A	ENST00000305596.3	-	5	792	c.617C>T	c.(616-618)gCc>gTc	p.A206V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	206					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCTGGTCGGCCAACCCGGA	0.657000													3	22					0	0	0.009096	0	0
ESF1	51575	broad.mit.edu	37	20	13698017	13698017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:13698017C>G	ENST00000202816.1	-	13	2367	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	754	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATGGTTACCTCAAAGTCATCC	0.378000													20	965					0	0	0.033300	0	0
APC	324	broad.mit.edu	37	5	112177885	112177885	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112177885G>C	ENST00000457016.1	+	16	6974	c.6594G>C	c.(6592-6594)ttG>ttC	p.L2198F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L2198F|APC_ENST00000257430.4_Missense_Mutation_p.L2198F			P25054	APC_HUMAN	adenomatous polyposis coli	2198	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAAAAGTTTGATTACTGGAA	0.358000		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)			13	36					0	0	0.093190	0	0
MACF1	23499	broad.mit.edu	37	1	39797559	39797559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:39797559G>A	ENST00000564288.1	+	37	6076	c.5299G>A	c.(5299-5301)Gaa>Aaa	p.E1767K	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000372915.3_Missense_Mutation_p.E1772K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1772					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGTTGCTGGAAGCTCAGCT	0.498000													11	35					0	0	0.080935	0	0
DNAH2	146754	broad.mit.edu	37	17	7667311	7667311	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7667311C>G	ENST00000572933.1	+	19	4601	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	DNAH2_ENST00000389173.2_Silent_p.L1047L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1047	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGGCGCCTCCTGGAGCTGC	0.622000													7	49					0	0	0.038147	0	0
CNNM3	26505	broad.mit.edu	37	2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	422	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602000													6	34					0	0	0.038147	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226720	152226720	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:152226720A>C	ENST00000243347.3	+	4	656	c.581A>C	c.(580-582)gAa>gCa	p.E194A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	194	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATTATGTTGAAATATATGAC	0.413000													32	166					0	0	0.069456	0	0
ITGA3	3675	broad.mit.edu	37	17	48145541	48145541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:48145541C>G	ENST00000320031.8	+	4	866	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	179					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GACTGGCAGACCTACCACAAC	0.582000													8	85					0	0	0.038147	0	0
IL4I1	259307	broad.mit.edu	37	19	50399101	50399101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:50399101C>T	ENST00000595948.1	-	5	909	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	IL4I1_ENST00000391826.2_Missense_Mutation_p.A75T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	75						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCACCTTGGCGGCCACCAGC	0.637000													12	116					0	0	0.024245	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457598	45457598	+	RNA	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:45457598G>A	ENST00000548424.1	+	0	448																											CTGTAACATCGTCACTGGTTC	0.502000													7	19					0	0	0.029380	0	0
CORO1B	57175	broad.mit.edu	37	11	67208498	67208498	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr11:67208498G>A	ENST00000453768.2	-	6	924	c.854C>T	c.(853-855)tCt>tTt	p.S285F	CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCAGGCAGAGAAGCTAGGAA	0.657000													5	20					0	0	0.021553	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122650	12122650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:12122650C>G	ENST00000379388.2	+	4	2954	c.2622C>G	c.(2620-2622)ttC>ttG	p.F874L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	874					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGGCACTTTCTATGATGATG	0.473000													24	134					0	0	0.083992	0	0
C16orf11	146325	broad.mit.edu	37	16	615181	615181	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:615181C>G	ENST00000409413.3	+	3	1869	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	530										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCTCCCCCTCGCAG	0.692000													11	16					0	0	0.020292	0	0
OLA1	29789	broad.mit.edu	37	2	175006625	175006625	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:175006625C>T	ENST00000284719.3	-	5	723	c.477G>A	c.(475-477)atG>atA	p.M159I	OLA1_ENST00000428402.2_Missense_Mutation_p.M159I|OLA1_ENST00000409546.1_Missense_Mutation_p.M179I|OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	159					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGGCCCAATCATTTCCTCAT	0.343000													16	87					0	0	0.033300	0	0
BCAM	4059	broad.mit.edu	37	19	45316587	45316587	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:45316587C>G	ENST00000391955.1	+	5	629	c.585C>G	c.(583-585)ccC>ccG	p.P195P	BCAM_ENST00000270233.6_Silent_p.P195P			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	195	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGTGCCCGTAGAGATGA	0.687000													18	41					0	0	0.049695	0	0
ORC2	4999	broad.mit.edu	37	2	201798698	201798698	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:201798698C>T	ENST00000234296.2	-	10	958		c.e10-1			NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTAAGTCACTCTGAAAGTGAA	0.348000													14	73					0	0	0.020292	0	0
BRAF	673	broad.mit.edu	37	7	140501295	140501295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:140501295G>C	ENST00000288602.6	-	6	837	c.777C>G	c.(775-777)ttC>ttG	p.F259L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	259					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TTTGACAGCGGAAACCCTGGA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	31					0	0	0.014758	0	0
BRCA2	675	broad.mit.edu	37	13	32913203	32913203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr13:32913203G>A	ENST00000544455.1	+	11	4938	c.4711G>A	c.(4711-4713)Gag>Aag	p.E1571K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1571K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1571					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTACAGAGAGGCCTGTAA	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			45	31					0	0	0.048971	0	0
ATP2C1	27032	broad.mit.edu	37	3	130715584	130715584	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:130715584C>G	ENST00000510168.1	+	24	2737	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000504948.1_Silent_p.L713L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000393221.4_Silent_p.L763L|ATP2C1_ENST00000359644.3_Silent_p.L729L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000533801.2_Silent_p.L724L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	729					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CTAATCCTCTCAATGCCATGC	0.363000									Hailey-Hailey disease				35	85					0	0	0.059317	0	0
PPL	5493	broad.mit.edu	37	16	4934903	4934903	+	Silent	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:4934903G>C	ENST00000345988.2	-	22	3842	c.3753C>G	c.(3751-3753)ctC>ctG	p.L1251L	PPL_ENST00000590782.2_Silent_p.L1249L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1251					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCCTCCCTGAGCCGCTGAA	0.522000													14	59					0	0	0.024245	0	0
WDR47	22911	broad.mit.edu	37	1	109554140	109554140	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:109554140G>T	ENST00000357672.3	-	4	819	c.444C>A	c.(442-444)atC>atA	p.I148I	WDR47_ENST00000361054.3_Silent_p.I148I|WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369962.3_Silent_p.I176I|WDR47_ENST00000369965.4_Silent_p.I176I			O94967	WDR47_HUMAN	WD repeat domain 47	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TATCAGCAGGGATGAATTCTG	0.443000													42	100					6.45866e-13	7.19871e-13	0.104719	1	0
LRRC8A	56262	broad.mit.edu	37	9	131669481	131669481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:131669481C>T	ENST00000259324.5	+	3	561	c.38C>T	c.(37-39)aCg>aTg	p.T13M	LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M|LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	13					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCGGACACGCAGCCAGCA	0.567000													9	20					0	0	0.047766	0	0
NBR1	4077	broad.mit.edu	37	17	41347008	41347008	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:41347008A>G	ENST00000422280.1	+	14	2161	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V	NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V|NBR1_ENST00000389312.4_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V|NBR1_ENST00000341165.6_Missense_Mutation_p.I568V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	568	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCTGTTGGATATAAACATTGT	0.438000													8	26					0	0	0.047766	0	0
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532000													38	46					0	0	0.086207	0	0
CACYBP	27101	broad.mit.edu	37	1	174977767	174977767	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:174977767T>C	ENST00000367681.2	+	5	966	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T|CACYBP_ENST00000367679.2_Missense_Mutation_p.I152T	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	152	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAGTTCTTATATTGTGTAGA	0.338000													51	36					0	0	0.048971	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171169	4171169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:4171169C>T	ENST00000602147.1	+	7	945	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.V324V|CREB3L3_ENST00000595923.1_Silent_p.V323V			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTGTGTCGCAGTGAGTC	0.602000													21	23					0	0	0.062417	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19315939	19315939	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:19315939G>A	ENST00000454498.2	-	5	1862	c.849C>T	c.(847-849)ttC>ttT	p.F283F	CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.F283F	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	283					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAACCAACCTGAAATTCTGCA	0.443000													46	141					0	0	0.045515	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315378	22315378	+	RNA	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:22315378G>T	ENST00000390434.3	+	0	541																											GAGCGACGCGGCTGAGTACTT	0.507000													31	39					8.16721e-17	9.24753e-17	0.045705	1	0
GALNT11	63917	broad.mit.edu	37	7	151798008	151798008	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:151798008T>C	ENST00000434507.1	+	5	856		c.e5+2		GALNT11_ENST00000415421.1_Splice_Site|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site|GALNT11_ENST00000430044.2_Splice_Site			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GAATGCAGCGTATGTGCCTTA	0.448000													3	123					0	0	0.004672	0	0
CACNA1D	776	broad.mit.edu	37	3	53834348	53834348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:53834348G>T	ENST00000288139.3	+	42	5174	c.5056G>T	c.(5056-5058)Gag>Tag	p.E1686*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1666*|CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1666					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAAGATGACGAGCCTGAGGA	0.463000													20	45					1.33834e-09	1.46874e-09	0.043863	1	0
HOXC4	3221	broad.mit.edu	37	12	54448755	54448755	+	Silent	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:54448755C>A	ENST00000430889.2	+	2	607	c.561C>A	c.(559-561)atC>atA	p.I187I	HOXC4_ENST00000303406.4_Silent_p.I187I	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAGAAGGATCGAGATCGCCC	0.537000													13	8					3.45872e-05	3.62826e-05	0.028581	1	0
PRRC2C	23215	broad.mit.edu	37	1	171509614	171509614	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:171509614A>G	ENST00000367742.3	+	16	3251	c.3009A>G	c.(3007-3009)agA>agG	p.R1003R	PRRC2C_ENST00000426496.2_Silent_p.R1001R|PRRC2C_ENST00000392078.3_Silent_p.R1003R|PRRC2C_ENST00000338920.4_Silent_p.R1001R			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1001							protein C-terminus binding										GCTCTAACAGAAGGGAAGAAG	0.403000													6	14					0	0	0.021553	0	0
PF4	5196	broad.mit.edu	37	4	74846999	74846999	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:74846999C>T	ENST00000296029.3	-	3	398	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	76					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	TTCCATTCTTCAGCGTGGCTC	0.488000													9	87					0	0	0.069234	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763371	5763371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:5763371C>A	ENST00000414202.2	+	19	2535	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	782						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTAGCTGTTCTGTTTGAAGA	0.478000													47	82					1.32667e-27	1.51015e-27	0.048971	1	0
GSG2	83903	broad.mit.edu	37	17	3629572	3629572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:3629572G>A	ENST00000325418.4	+	1	2362	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	781	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ACAGGACAATGCTGAACTTCA	0.433000													11	34					0	0	0.080935	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291244	1291244	+	Missense_Mutation	SNP	A	A	G	rs150845192		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:1291244A>G	ENST00000461509.2	+	2	367	c.173A>G	c.(172-174)cAc>cGc	p.H58R	TPSAB1_ENST00000338844.3_Missense_Mutation_p.H51R			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	51	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.H51R(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CTGAGAGTCCACGGCCCATAC	0.711000													4	68					0	0	0.021553	0	0
ZNF462	58499	broad.mit.edu	37	9	109688481	109688481	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:109688481G>C	ENST00000277225.5	+	3	2577	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	763					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATATGGGTAAGAGATACCAGT	0.488000													7	30					0	0	0.029380	0	0
CCDC170	80129	broad.mit.edu	37	6	151936765	151936765	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:151936765T>C	ENST00000367290.5	+	10	2008	c.1919T>C	c.(1918-1920)aTg>aCg	p.M640T	CCDC170_ENST00000239374.7_Missense_Mutation_p.M633T			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	633																	ACCAGTGAAATGAAGACACTA	0.398000													38	45					0	0	0.098360	0	0
TTN	7273	broad.mit.edu	37	2	179449963	179449963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:179449963C>T	ENST00000589042.1	-	309	64732	c.64508G>A	c.(64507-64509)gGa>gAa	p.G21503E	TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19862E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19862	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATCTTCTCCTTTTTTCCA	0.423000													32	189					0	0	0.050027	0	0
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493000													25	86					0	0	0.037714	0	0
NET1	10276	broad.mit.edu	37	10	5498902	5498902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:5498902G>A	ENST00000355029.4	+	12	1878	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	NET1_ENST00000542715.1_Missense_Mutation_p.R398Q|NET1_ENST00000380359.3_Missense_Mutation_p.R525Q	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	579					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGGCATCCGAAGAGCGAGG	0.493000													9	38					0	0	0.069234	0	0
HTR1E	3354	broad.mit.edu	37	6	87726086	87726086	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:87726086C>A	ENST00000305344.4	+	2	1737	c.1034C>A	c.(1033-1035)aCg>aAg	p.T345K	HTR1E_ENST00000369584.1_Missense_Mutation_p.T345K	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGCTCTATACGAGTTTTAAT	0.438000													14	51					1.99824e-07	2.17067e-07	0.033300	1	0
PTPN14	5784	broad.mit.edu	37	1	214542824	214542824	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:214542824G>C	ENST00000366956.5	-	17	3441	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1083	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACATCTTCTGGACAGCCGTGA	0.438000													37	74					0	0	0.086207	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158508	26158508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:26158508C>G	ENST00000289316.2	+	1	135	c.111C>G	c.(109-111)agC>agG	p.S37R	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	37					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCAAGGAGAGCTATTCAGTGT	0.542000													17	166					0	0	0.049695	0	0
DONSON	29980	broad.mit.edu	37	21	34950680	34950680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr21:34950680G>C	ENST00000453626.1	-	10	1493	c.1489C>G	c.(1489-1491)Cgt>Ggt	p.R497G	DONSON_ENST00000303071.5_Missense_Mutation_p.P545R|DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000432378.1_Missense_Mutation_p.P474R			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CCCAAGTAACGGTATTTGACT	0.403000													9	71					0	0	0.058154	0	0
TAF8	129685	broad.mit.edu	37	6	42036204	42036204	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:42036204G>A	ENST00000372977.3	+	7	657	c.637_splice	c.e7-1	p.L213_splice	TAF8_ENST00000494547.1_Splice_Site_p.L213_splice|TAF8_ENST00000456846.2_Splice_Site_p.L213_splice|TAF8_ENST00000372982.4_Splice_Site_p.L213_splice|TAF8_ENST00000465926.1_Intron	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	213					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATTCGCCAGTGATTGCTGCCA	0.522000													54	395					0	0	0.048971	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363086	22363086	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr11:22363086G>A	ENST00000263160.3	+	2	536	c.99G>A	c.(97-99)aaG>aaA	p.K33K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	33					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCTGGAGAAGAAGCAAGACA	0.642000													11	45					0	0	0.093190	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798058	148798058	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chrX:148798058T>C	ENST00000355220.5	+	5	1014	c.912T>C	c.(910-912)tgT>tgC	p.C304C	MAGEA11_ENST00000333104.4_Silent_p.C275C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	304	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCATACAGTGTAATGAGCAGA	0.502000													23	101					0	0	0.083992	0	0
GAREM	64762	broad.mit.edu	37	18	29847915	29847915	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr18:29847915G>C	ENST00000399218.4	-	6	2602	c.2547C>G	c.(2545-2547)atC>atG	p.I849M	GAREM_ENST00000269209.6_Missense_Mutation_p.I850M	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCTCTGAGAGGATTTCTTCCG	0.418000													6	34					0	0	0.021553	0	0
NPHP3	27031	broad.mit.edu	37	3	132435736	132435736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:132435736C>T	ENST00000326682.8	-	4	764	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	NPHP3_ENST00000337331.5_Missense_Mutation_p.E230K			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	230					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCAATATTCACATTGGGTT	0.443000													15	74					0	0	0.024245	0	0
USH2A	7399	broad.mit.edu	37	1	215848775	215848775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:215848775C>T	ENST00000366943.2	-	63	12864	c.12478G>A	c.(12478-12480)Gct>Act	p.A4160T	USH2A_ENST00000307340.3_Missense_Mutation_p.A4160T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4160	Fibronectin type-III 27.				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)		ACAGTAGGAGCCAGCTGAGAG	0.542000										HNSCC(13;0.011)			12	46					0	0	0.105934	0	0
C10orf137	26098	broad.mit.edu	37	10	127429569	127429569	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:127429569G>C	ENST00000337623.3	+	16	2173		c.e16-1		C10orf137_ENST00000356792.4_Splice_Site	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCTAAACAGATACTTATTG	0.378000													29	100					0	0	0.041601	0	0
TNFSF8	944	broad.mit.edu	37	9	117666585	117666585	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:117666585T>C	ENST00000223795.2	-	4	444	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	111					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GACAACTTGGTTTTGTTTAGA	0.378000													48	46					0	0	0.048971	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599568	161599568	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:161599568C>T	ENST00000294800.3	-	3	592	c.319_splice	c.e3+1	p.G107_splice	FCGR3B_ENST00000367964.2_Splice_Site_p.G107_splice|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Splice_Site_p.G143_splice|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	107					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.468000													6	40					0	0	0.093190	0	0
MC4R	4160	broad.mit.edu	37	18	58038766	58038766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr18:58038766G>A	ENST00000299766.3	-	1	1235	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	273					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TATGGATTCTGAGGACAAGAG	0.423000													13	51					0	0	0.105934	0	0
NEFL	4747	broad.mit.edu	37	8	24813613	24813613	+	RNA	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:24813613G>C	ENST00000221169.5	-	0	1011							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTCCTGCTCGTACAGCGCCC	0.682000													4	11					0	0	0.009096	0	0
ZNF689	115509	broad.mit.edu	37	16	30621254	30621254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:30621254A>G	ENST00000287461.3	-	1	446	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGAGAAGTACACGGCCACG	0.692000													2	11					0	0	0.004672	0	0
FCRL3	115352	broad.mit.edu	37	1	157666929	157666929	+	Splice_Site	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:157666929C>G	ENST00000368184.3	-	6	1136		c.e6+1		FCRL3_ENST00000368186.5_Splice_Site|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAGACACTCACTCTGTACACG	0.522000													17	24					0	0	0.043863	0	0
NUDT12	83594	broad.mit.edu	37	5	102894586	102894586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:102894586C>G	ENST00000230792.2	-	3	886	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	264						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGCTTCTTTTTCTTTC	0.373000													3	7					0	0	0.009096	0	0
AP2M1	1173	broad.mit.edu	37	3	183894784	183894784	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:183894784G>C	ENST00000382456.3	+	2	317	c.3G>C	c.(1-3)atG>atC	p.M1I	AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I|AP2M1_ENST00000292807.5_Start_Codon_SNP_p.M1I|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	1					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCGCCATGATTGGAGGCT	0.582000													6	38					0	0	0.029380	0	0
ZNF675	171392	broad.mit.edu	37	19	23836955	23836955	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:23836955T>C	ENST00000359788.4	-	4	948	c.780A>G	c.(778-780)gaA>gaG	p.E260E	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	260					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGCCACATTCTTCACATT	0.353000													10	31					0	0	0.058154	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566417	27566417	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:27566417T>A	ENST00000359541.2	-	2	434	c.5A>T	c.(4-6)gAt>gTt	p.D2V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	2						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCAGGTATCCATCAGCAC	0.517000													39	70					0	0	0.042209	0	0
HNF1A	6927	broad.mit.edu	37	12	121426777	121426777	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:121426777G>A	ENST00000257555.6	+	2	694	c.468G>A	c.(466-468)acG>acA	p.T156T	HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000543427.1_Silent_p.T39T|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	156	Interaction with DNA.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAAGACGCAGAAGCGGG	0.622000									Hepatic Adenoma, Familial Clustering of				10	19					0	0	0.069234	0	0
KIAA1432	57589	broad.mit.edu	37	9	5763345	5763345	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:5763345A>G	ENST00000414202.2	+	19	2509	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	773						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTGCCTTTCCACATCAACATT	0.478000													41	67					0	0	0.092188	0	0
ACSM3	6296	broad.mit.edu	37	16	20781560	20781560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:20781560G>A	ENST00000289416.5	+	2	679	c.204G>A	c.(202-204)tgG>tgA	p.W68*	ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68*|ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23*	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	68					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGACCAATGGACTGATAAGG	0.428000													4	30					0	0	0.009096	0	0
M6PR	4074	broad.mit.edu	37	12	9095069	9095069	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:9095069T>C	ENST00000000412.3	-	6	1122	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	218					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		GCTCCATTCCTTTGGCTCCCA	0.478000													47	269					0	0	0.048971	0	0
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chrX:100547854G>A	ENST00000372905.2	-	0	205				TAF7L_ENST00000372907.3_Silent_p.D60D			Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa						cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562000													7	175					0	0	0.047766	0	0
LRRC16B	90668	broad.mit.edu	37	14	24532038	24532038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:24532038G>A	ENST00000342740.5	+	29	2843	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	897										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACAGATGATGAACTTGGGAC	0.597000													8	85					0	0	0.047766	0	0
FAT1	2195	broad.mit.edu	37	4	187538164	187538164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:187538164C>A	ENST00000441802.2	-	11	9279	c.9070G>T	c.(9070-9072)Gaa>Taa	p.E3024*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3024	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTACCTTTTCACAAACTGGA	0.388000										HNSCC(5;0.00058)			13	22					7.93312e-07	8.48844e-07	0.020292	1	0
NUP210L	91181	broad.mit.edu	37	1	154067493	154067493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:154067493C>G	ENST00000368559.3	-	15	2176	c.2105G>C	c.(2104-2106)gGa>gCa	p.G702A	NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	702						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGCTATTCCAATCTTCTC	0.443000													10	28					0	0	0.058154	0	0
NLRP1	22861	broad.mit.edu	37	17	5486123	5486123	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:5486123C>T	ENST00000345221.3	-	2	869	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NLRP1_ENST00000577119.1_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000572272.1_Silent_p.L105L|NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000354411.3_Silent_p.L105L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	105					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGAGACCCCAGGTGGGGTT	0.602000													3	32					0	0	0.004672	0	0
FOXE3	2301	broad.mit.edu	37	1	47882290	47882290	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:47882290C>T	ENST00000335071.2	+	1	547	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	101					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACCGCTTCATCACCGAACGCT	0.667000													9	20					0	0	0.058154	0	0
CHPF2	54480	broad.mit.edu	37	7	150935153	150935153	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:150935153G>C	ENST00000035307.2	+	4	3218	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTGCGAGCAGAGGCCCCTTC	0.632000													6	43					0	0	0.047766	0	0
C1orf189	388701	broad.mit.edu	37	1	154171936	154171936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:154171936C>G	ENST00000368525.3	-	4	298	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	91										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTGCCCATCTGATTTAGTT	0.478000													42	221					0	0	0.039052	0	0
DNAJC15	29103	broad.mit.edu	37	13	43643083	43643083	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr13:43643083A>T	ENST00000379221.2	+	3	602	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	60						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGCATTTCGGATCTGGAAACC	0.333000													7	12					0	0	0.038147	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	24					0	0	0.004672	0	0
LDLR	3949	broad.mit.edu	37	19	11224240	11224240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:11224240C>G	ENST00000558518.1	+	10	1575	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	LDLR_ENST00000545707.1_Missense_Mutation_p.S336C|LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C|LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000557933.1_Missense_Mutation_p.S463C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	463					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACGGCGTCTCTTCCTATGAC	0.632000													10	27					0	0	0.093190	0	0
STRBP	55342	broad.mit.edu	37	9	125909210	125909210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:125909210G>T	ENST00000447404.2	-	12	1566	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	STRBP_ENST00000348403.5_Missense_Mutation_p.S421Y|STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	421	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACATCTACAGACATTGTGAA	0.453000													27	56					2.65835e-16	2.99414e-16	0.034045	1	0
USH1G	124590	broad.mit.edu	37	17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627000													4	60					0	0	0.009096	0	0
EPHA7	2045	broad.mit.edu	37	6	94120310	94120310	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:94120310C>T	ENST00000369303.4	-	3	925	c.741G>A	c.(739-741)agG>agA	p.R247R	EPHA7_ENST00000369297.1_Silent_p.R247R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	247	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCAGTGCATCCTGGGGGCGT	0.473000													9	37					0	0	0.047766	0	0
VWA5A	4013	broad.mit.edu	37	11	123989062	123989062	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr11:123989062A>G	ENST00000456829.2	+	5	664	c.413A>G	c.(412-414)gAt>gGt	p.D138G	VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G|VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	138										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGGAAGCAGATGGGGCTCTG	0.537000													15	89					0	0	0.033300	0	0
HDHD3	81932	broad.mit.edu	37	9	116136274	116136274	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:116136274G>A	ENST00000238379.5	-	2	1258	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	HDHD3_ENST00000374180.3_Silent_p.L121L|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	121							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CACTCCCTCAGGGTGTCCTCA	0.602000													27	102					0	0	0.108266	0	0
LTBP1	4052	broad.mit.edu	37	2	33588552	33588552	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:33588552A>C	ENST00000404816.2	+	29	4719	c.4366A>C	c.(4366-4368)Acg>Ccg	p.T1456P	LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P|LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAGCAAGGGACGTACTATGA	0.398000													14	92					0	0	0.024245	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573934	101573934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:101573934A>G	ENST00000326172.5	+	7	1587	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	491	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GTGGCTGCCAATCAGCATCTC	0.458000													21	102					0	0	0.091800	0	0
TMC2	117532	broad.mit.edu	37	20	2621930	2621930	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr20:2621930A>G	ENST00000358864.1	+	20	2669	c.2654A>G	c.(2653-2655)cAc>cGc	p.H885R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	885						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATTCTGGCCACGCCCCATCT	0.617000													3	47					0	0	0.004672	0	0
ARID2	196528	broad.mit.edu	37	12	46245941	46245941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:46245941C>A	ENST00000334344.6	+	15	4207	c.4035C>A	c.(4033-4035)gaC>gaA	p.D1345E	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.D955E|ARID2_ENST00000422737.1_Missense_Mutation_p.D1196E	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1345					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AACAAATAGACATGCAAGATA	0.363000			"""N, S, F"""		hepatocellular carcinoma								11	35					0.0135373	0.0137951	0.093190	1	0
OBSCN	84033	broad.mit.edu	37	1	228509058	228509058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:228509058C>A	ENST00000570156.2	+	66	17461	c.17387C>A	c.(17386-17388)gCa>gAa	p.A5796E	OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4839E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4839	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCCCAGCAGCCCCCTCT	0.622000													8	25					3.09899e-07	3.34941e-07	0.047766	1	0
FCGR3A	2214	broad.mit.edu	37	1	161518211	161518211	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:161518211C>T	ENST00000367969.3	-	3	610	c.427_splice	c.e3+1	p.G143_splice	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000540048.1_Splice_Site_p.G107_splice|FCGR3A_ENST00000443193.1_Splice_Site_p.G142_splice	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	107	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAACTCACCGATATGGACT	0.473000													4	59					0	0	0.038147	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882701	47882701	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:47882701G>T	ENST00000289672.2	-	34	5354	c.5304C>A	c.(5302-5304)gtC>gtA	p.V1768V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1768					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACTTTTAGCGACCAAAAATC	0.388000													10	21					2.17888e-05	2.30832e-05	0.058154	1	0
MYH3	4621	broad.mit.edu	37	17	10545560	10545560	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:10545560G>A	ENST00000583535.1	-	17	2043	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	MYH3_ENST00000226209.7_Silent_p.F652F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	652	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTACCCTGAAAAGGGCAG	0.388000													8	32					0	0	0.058154	0	0
TMEM64	169200	broad.mit.edu	37	8	91643854	91643854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:91643854C>T	ENST00000458549.2	-	2	1054	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	293						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AGGGTGGTACCCAAGTAAGAA	0.423000													106	51					0	0	0.048971	0	0
FOXO3	2309	broad.mit.edu	37	6	108984767	108984767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:108984767G>C	ENST00000406360.1	+	2	1074	c.731G>C	c.(730-732)gGa>gCa	p.G244A	FOXO3_ENST00000343882.6_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	244				PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAAGAGCGGAAAAGCCCCC	0.592000													9	19					0	0	0.058154	0	0
PEX1	5189	broad.mit.edu	37	7	92147568	92147568	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:92147568T>C	ENST00000248633.4	-	4	454	c.357_splice	c.e4-1	p.E120_splice	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120_splice	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	120					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGCATGCAGCTCCTAGAACCA	0.313000													24	36					0	0	0.091800	0	0
SGK1	6446	broad.mit.edu	37	6	134498960	134498960	+	Translation_Start_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:134498960T>C	ENST00000528577.1	-	1	83	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SGK1_ENST00000367858.5_Intron	NM_001143677.1	NP_001137149.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGAGATGACATGAGAGCACGA	0.493000													5	13					0	0	0.021553	0	0
EWSR1	2130	broad.mit.edu	37	22	29695245	29695245	+	Silent	SNP	C	C	T	rs138837921		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr22:29695245C>T	ENST00000397938.2	+	15	1921	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	EWSR1_ENST00000332035.6_Silent_p.F478F|EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000414183.2_Silent_p.F539F|EWSR1_ENST00000332050.6_Silent_p.F461F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCAGAACTTCGCCTGGAGAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								27	102					0	0	0.041601	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	160					0	0	0.004672	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268800	57268800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr11:57268800C>T	ENST00000278426.3	-	3	512	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	53					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGCTGCTCTCAGCTGAGGAG	0.607000													5	34					0	0	0.021553	0	0
ZNF616	90317	broad.mit.edu	37	19	52619847	52619847	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:52619847A>G	ENST00000600228.1	-	4	831	c.570T>C	c.(568-570)tgT>tgC	p.C190C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGGCTTTGCCACATTCATTAC	0.373000													41	83					0	0	0.039052	0	0
NKX3-2	579	broad.mit.edu	37	4	13544126	13544126	+	Missense_Mutation	SNP	C	C	T	rs61795263		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:13544126C>T	ENST00000382438.5	-	2	1128	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	165					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAACACCGTCGTCCTCGGTC	0.721000													4	20					0	0	0.009096	0	0
FCGBP	8857	broad.mit.edu	37	19	40376315	40376315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:40376315C>G	ENST00000221347.6	-	25	11996	c.11989G>C	c.(11989-11991)Gag>Cag	p.E3997Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3997	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCTACCTCATAGTAGACA	0.542000													6	28					0	0	0.038147	0	0
IZUMO1	284359	broad.mit.edu	37	19	49245052	49245052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:49245052C>T	ENST00000332955.2	-	8	1295	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	250	Ig-like C2-type.				fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGACCTGTGACGTGAAAATTG	0.632000													9	27					0	0	0.047766	0	0
ZNF598	90850	broad.mit.edu	37	16	2053040	2053040	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:2053040C>T	ENST00000563630.1	-	3	494	c.252G>A	c.(250-252)cgG>cgA	p.R84R	ZNF598_ENST00000562103.1_Silent_p.R84R|ZNF598_ENST00000431526.1_Silent_p.R139R			Q86UK7	ZN598_HUMAN	zinc finger protein 598	139						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CATGCTGCCTCCGCATGTGCT	0.677000													4	6					0	0	0.009096	0	0
SGCE	8910	broad.mit.edu	37	7	94257653	94257653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:94257653G>A	ENST00000415788.2	-	4	446	c.359C>T	c.(358-360)cCc>cTc	p.P120L	SGCE_ENST00000428696.2_Missense_Mutation_p.P84L|SGCE_ENST00000265735.7_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000445866.2_Missense_Mutation_p.P84L			O43556	SGCE_HUMAN	sarcoglycan, epsilon	84					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGTTATGGGATCATTACT	0.368000													13	22					0	0	0.105934	0	0
PEAR1	375033	broad.mit.edu	37	1	156884446	156884446	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:156884446C>T	ENST00000338302.3	+	24	3195	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	PEAR1_ENST00000292357.7_Silent_p.D990D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	990	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGACCGAGACTCTGTGGGCT	0.607000													22	65					0	0	0.062417	0	0
TENM1	10178	broad.mit.edu	37	X	123870838	123870838	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chrX:123870838C>G	ENST00000422452.2	-	4	808	c.745G>C	c.(745-747)Gtc>Ctc	p.V249L	TENM1_ENST00000371130.3_Missense_Mutation_p.V249L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTGTTCAGGACCCAGCTGTTA	0.502000													168	88					0	0	0.048971	0	0
ZNF598	90850	broad.mit.edu	37	16	2053657	2053657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:2053657C>T	ENST00000563630.1	-	2	372	c.130G>A	c.(130-132)Gat>Aat	p.D44N	ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	99						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTAGATATCATATTTCTTC	0.547000											OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	42					0	0	0.024245	0	0
AKAP9	10142	broad.mit.edu	37	7	91632007	91632007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:91632007G>C	ENST00000359028.2	+	9	3037	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	938	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTAGCAGAAACATTGGA	0.358000			T	BRAF	papillary thyroid								9	38					0	0	0.047766	0	0
ABCC10	89845	broad.mit.edu	37	6	43413457	43413457	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:43413457G>T	ENST00000244533.3	+	13	3426	c.3067G>T	c.(3067-3069)Gca>Tca	p.A1023S	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1051S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1051	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGCCAACGCGGCAGGCCTGCT	0.647000													8	56					0.000157383	0.000162705	0.038147	1	0
PCDHB10	56126	broad.mit.edu	37	5	140572793	140572793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:140572793C>G	ENST00000239446.4	+	1	852	c.668C>G	c.(667-669)tCt>tGt	p.S223C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		223	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGTCTGGGACCTCT	0.552000													28	70					0	0	0.099896	0	0
WWC1	23286	broad.mit.edu	37	5	167887709	167887709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:167887709C>T	ENST00000265293.4	+	20	3380	c.2878C>T	c.(2878-2880)Cga>Tga	p.R960*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	960	Interaction with PRKCZ.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTTTTGTTCGAAACTCCCT	0.507000													13	11					0	0	0.033300	0	0
PKP4	8502	broad.mit.edu	37	2	159488376	159488376	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:159488376G>T	ENST00000389757.3	+	8	1390	c.1265G>T	c.(1264-1266)aGc>aTc	p.S422I	PKP4_ENST00000389759.3_Missense_Mutation_p.S422I	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	422					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCTATTACAGCCCAGTGTAC	0.527000										HNSCC(62;0.18)			22	62					1.96292e-10	2.1765e-10	0.055883	1	0
PTK2	5747	broad.mit.edu	37	8	141874416	141874416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:141874416G>A	ENST00000522684.1	-	5	674	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	149	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATACCTGTTGATAGAAGAAA	0.264000													11	134					0	0	0.093190	0	0
APC	324	broad.mit.edu	37	5	112176368	112176368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:112176368G>A	ENST00000457016.1	+	16	5457	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.E1693K|APC_ENST00000257430.4_Missense_Mutation_p.E1693K			P25054	APC_HUMAN	adenomatous polyposis coli	1693	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATTCCTACAGAAGGCAGAAG	0.438000		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)			4	17					0	0	0.014758	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72169178	72169178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:72169178C>T	ENST00000555818.1	+	12	3950	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAATCCACGCCTAGCTGG	0.478000													8	27					0	0	0.038147	0	0
FSIP1	161835	broad.mit.edu	37	15	40057834	40057834	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr15:40057834G>C	ENST00000350221.3	-	4	633	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	142										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTAGACCTTGCTTCTTAATT	0.323000													8	25					0	0	0.047766	0	0
GRIK3	2899	broad.mit.edu	37	1	37337827	37337827	+	Missense_Mutation	SNP	C	C	T	rs143358361		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:37337827C>T	ENST00000373091.3	-	4	710	c.694G>A	c.(694-696)Gac>Aac	p.D232N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	232					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D232N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGCTGCAGTCGAAGATAATG	0.612000													4	22					0	0	0.009096	0	0
LTN1	26046	broad.mit.edu	37	21	30357237	30357237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr21:30357237C>T	ENST00000361371.4	-	4	502	c.352G>A	c.(352-354)Gac>Aac	p.D118N	LTN1_ENST00000389194.2_Missense_Mutation_p.D164N|LTN1_ENST00000389195.2_Missense_Mutation_p.D164N	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	118							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACGCGACGGTCATGATCCTAT	0.348000													10	17					0	0	0.058154	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045225	76045225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:76045225G>A	ENST00000335749.4	+	3	651	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V28I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	28	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCGCACTCGTCCAAAGCCC	0.557000													11	59					0	0	0.069234	0	0
DGKQ	1609	broad.mit.edu	37	4	959312	959312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:959312C>T	ENST00000273814.3	-	14	1658	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	529					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACACCACGGTGGCTGCA	0.652000													3	25					0	0	0.004672	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434882	118434882	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:118434882G>C	ENST00000369209.3	-	12	1542	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	480							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCGCCCACCAGAAAGAGGAAC	0.622000													4	12					0	0	0.009096	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744911	87744911	+	Missense_Mutation	SNP	G	G	A	rs113844965		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:87744911G>A	ENST00000270583.5	-	9	1032	c.974C>T	c.(973-975)tCg>tTg	p.S325L	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	325										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAACTCGCCCGACAGGCTCTC	0.582000													9	33					0	0	0.047766	0	0
SPG7	6687	broad.mit.edu	37	16	89603249	89603249	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:89603249C>G	ENST00000341316.2	+	10	1408	c.1401C>G	c.(1399-1401)ctC>ctG	p.L467L	SPG7_ENST00000268704.2_Intron	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	347					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCTCCTGTCTCACGGAGCCCA	0.582000													31	146					0	0	0.064281	0	0
SP3	6670	broad.mit.edu	37	2	174819640	174819640	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:174819640T>C	ENST00000310015.6	-	4	2130	c.1600A>G	c.(1600-1602)Ata>Gta	p.I534V	SP3_ENST00000455789.2_Missense_Mutation_p.I481V|SP3_ENST00000418194.2_Missense_Mutation_p.I466V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	534	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTAGCTGTATACCAGCAGAA	0.423000													35	57					0	0	0.064281	0	0
TGS1	96764	broad.mit.edu	37	8	56699563	56699563	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:56699563G>A	ENST00000260129.5	+	4	1583	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	369					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CGTAATGGAGGAACCAATGAG	0.438000													5	52					0	0	0.014758	0	0
CDH4	1002	broad.mit.edu	37	20	60511842	60511842	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr20:60511842C>T	ENST00000360469.5	+	16	2680	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	CDH4_ENST00000543233.1_Silent_p.S790S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	864					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTATGACTCCCTGCTGGTCT	0.637000													22	22					0	0	0.069288	0	0
APC	324	broad.mit.edu	37	5	112178407	112178407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:112178407G>T	ENST00000457016.1	+	16	7496	c.7116G>T	c.(7114-7116)caG>caT	p.Q2372H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H			P25054	APC_HUMAN	adenomatous polyposis coli	2372	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTAGACAGATGAGCCAAC	0.403000		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)			14	34					1.5842e-08	1.72969e-08	0.105934	1	0
OR1E1	8387	broad.mit.edu	37	17	3301357	3301357	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:3301357C>T	ENST00000322608.2	-	1	347	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AGGCCATGGCCACAAGGAGGA	0.577000													13	26					0	0	0.105934	0	0
CACNB2	783	broad.mit.edu	37	10	18439891	18439891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:18439891G>A	ENST00000282343.8	+	2	338	c.116G>A	c.(115-117)aGt>aAt	p.S39N	CACNB2_ENST00000324631.7_Missense_Mutation_p.S67N|CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000467034.1_3'UTR	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	67					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTCAAATAGTTTTGTTCGC	0.313000													8	78					0	0	0.093190	0	0
QSOX1	5768	broad.mit.edu	37	1	180165521	180165521	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:180165521C>G	ENST00000367602.3	+	12	1667	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	QSOX1_ENST00000367600.5_Silent_p.L531L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	531					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACTTCCTCAAGGCCCACT	0.617000													62	140					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	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)			16	32					0	0	0.024245	0	0
ADCY4	196883	broad.mit.edu	37	14	24789048	24789048	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:24789048G>C	ENST00000310677.4	-	22	2746	c.2633C>G	c.(2632-2634)tCa>tGa	p.S878*	ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493000													6	76					0	0	0.038147	0	0
BAHD1	22893	broad.mit.edu	37	15	40750963	40750963	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr15:40750963C>G	ENST00000561234.1	+	2	559	c.300C>G	c.(298-300)ccC>ccG	p.P100P	BAHD1_ENST00000560846.1_Silent_p.P100P|BAHD1_ENST00000416165.1_Silent_p.P100P			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGCCCCCCAGCCCGGCCC	0.657000													4	41					0	0	0.009096	0	0
PTPN4	5775	broad.mit.edu	37	2	120712858	120712858	+	Missense_Mutation	SNP	G	G	T	rs143331305		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:120712858G>T	ENST00000263708.2	+	20	2710	c.1939G>T	c.(1939-1941)Gct>Tct	p.A647S	PTPN4_ENST00000544261.1_Missense_Mutation_p.A280S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	647						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATCCAGCTAGCTGAGGGGCT	0.403000													10	36					6.40141e-05	6.68245e-05	0.080935	1	0
DOCK2	1794	broad.mit.edu	37	5	169144446	169144446	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:169144446A>G	ENST00000256935.8	+	21	2170	c.2090A>G	c.(2089-2091)gAg>gGg	p.E697G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	697					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTCTGGAGGCTTACATC	0.463000													7	137					0	0	0.058154	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45679696	45679696	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr14:45679696A>T	ENST00000310806.4	-	14	3497	c.3039T>A	c.(3037-3039)gaT>gaA	p.D1013E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1013	Poly-Asp.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGGCAGAATATCATCATCAT	0.373000													14	97					0	0	0.020292	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30722697	30722697	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr22:30722697G>A	ENST00000215790.7	-	1	338	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000403477.3_Silent_p.F58F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	58						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATGAAGCCGAACTTGTCGA	0.726000													10	24					0	0	0.058154	0	0
TMBIM6	7009	broad.mit.edu	37	12	50135944	50135944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:50135944G>C	ENST00000423828.1	+	1	353	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	TMBIM6_ENST00000267115.5_Intron|TMBIM6_ENST00000549385.1_Intron|TMBIM6_ENST00000552699.1_Missense_Mutation_p.E9Q	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	0					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		p.E9Q(1)		lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTGACACGCGAGGCTCCTCA	0.682000													12	5					0	0	0.080935	0	0
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318000													6	291					0	0	0.038147	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90682924	90682924	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:90682924G>C	ENST00000371926.3	+	11	2212		c.e11-1		STAMBPL1_ENST00000371922.1_Splice_Site|STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1								metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTTTCCTAGATATGCAAAC	0.313000													6	20					0	0	0.021553	0	0
CPXM2	119587	broad.mit.edu	37	10	125526664	125526664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:125526664G>A	ENST00000241305.3	-	10	1458	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	435					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCCAGCTCCGAGCCCTGGAG	0.552000													21	22					0	0	0.076483	0	0
ZNF208	7757	broad.mit.edu	37	19	22157311	22157311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:22157311A>C	ENST00000397126.4	-	4	673	c.525T>G	c.(523-525)tgT>tgG	p.C175W	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTATTCTTTACATTGCAAAT	0.328000													8	41					0	0	0.038147	0	0
ALPK2	115701	broad.mit.edu	37	18	56184167	56184167	+	Silent	SNP	G	G	T	rs61732436		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr18:56184167G>T	ENST00000361673.3	-	9	6126	c.5913C>A	c.(5911-5913)atC>atA	p.I1971I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1971	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGTTCCTTTGGATGAGCTCAT	0.502000													18	73					2.37509e-13	2.6611e-13	0.055883	1	0
MPP3	4356	broad.mit.edu	37	17	41888554	41888554	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:41888554C>G	ENST00000398393.1	-	15	1610	c.1350G>C	c.(1348-1350)aaG>aaC	p.K450N	MPP3_ENST00000398389.4_Missense_Mutation_p.K425N			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	425	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTCATGGCTCTTTCGGGGCC	0.488000													12	47					0	0	0.105934	0	0
TTC30A	92104	broad.mit.edu	37	2	178482633	178482633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:178482633T>A	ENST00000355689.4	-	1	1061	c.797A>T	c.(796-798)aAc>aTc	p.N266I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	266					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TACCTCATAGTTTCTCAGTTG	0.507000													40	80					0	0	0.111260	0	0
IZUMO4	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:2096977G>T	ENST00000395307.2	+	1	598	c.33G>T	c.(31-33)acG>acT	p.T11T	IZUMO4_ENST00000395301.3_Silent_p.T11T|IZUMO4_ENST00000395296.1_Silent_p.T11T	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	11						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGTGCCTGACGGCGGCGCTGG	0.672000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0.000978159	0.00100156	0.080935	1	0
ADAM17	6868	broad.mit.edu	37	2	9666273	9666273	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:9666273G>A	ENST00000310823.3	-	6	902	c.720C>T	c.(718-720)ggC>ggT	p.G240G	ADAM17_ENST00000497134.1_Silent_p.G240G	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	240	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTCCCCTCTGCCCATGTATC	0.383000													66	111					0	0	0.048971	0	0
RIPK1	8737	broad.mit.edu	37	6	3105891	3105891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:3105891G>C	ENST00000259808.4	+	9	1480	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H|RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	394	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGACAGGCAGACGAAACAGC	0.532000													26	65					0	0	0.091800	0	0
FAM188B	84182	broad.mit.edu	37	7	30818091	30818091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:30818091G>A	ENST00000265299.6	+	2	184	c.107G>A	c.(106-108)cGc>cAc	p.R36H	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	36										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGCCCACGCTCTGACCTC	0.438000													15	62					0	0	0.024245	0	0
PSME4	23198	broad.mit.edu	37	2	54155437	54155437	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:54155437T>C	ENST00000404125.1	-	11	1375	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGCAGGATATGTTCTACAGT	0.353000													4	24					0	0	0.009096	0	0
PDE12	201626	broad.mit.edu	37	3	57542169	57542169	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:57542169G>A	ENST00000311180.8	+	1	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	PDE12_ENST00000487257.1_Silent_p.L21L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	21							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGAGAAGCTGAGCCGGGCTG	0.692000													5	9					0	0	0.058154	0	0
GRIA1	2890	broad.mit.edu	37	5	153085627	153085627	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:153085627G>A	ENST00000285900.5	+	11	2166	c.1823_splice	c.e11+1	p.R608_splice	GRIA1_ENST00000518142.1_Splice_Site_p.R528_splice|GRIA1_ENST00000518783.1_Splice_Site_p.R618_splice|GRIA1_ENST00000521843.2_Splice_Site_p.R539_splice|GRIA1_ENST00000340592.5_Splice_Site_p.R608_splice|GRIA1_ENST00000448073.4_Splice_Site_p.R618_splice	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	608					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTTCTCCCAGGTCAGTCAGC	0.403000													31	22					0	0	0.074837	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616773	77616773	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:77616773G>C	ENST00000521891.2	+	2	898	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	150						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTGGGCAGAATGCACAGA	0.488000										HNSCC(33;0.089)			27	21					0	0	0.099896	0	0
ZZEF1	23140	broad.mit.edu	37	17	3961378	3961378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:3961378T>C	ENST00000381638.2	-	32	5199	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1692							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGAGATCATTGGGTTCCCA	0.458000													10	23					0	0	0.058154	0	0
ESPL1	9700	broad.mit.edu	37	12	53663848	53663848	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:53663848G>A	ENST00000257934.4	+	3	1213	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	ESPL1_ENST00000552462.1_Silent_p.L374L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	374					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTCTTCTGCAGCAGCTGC	0.537000													23	11					0	0	0.076483	0	0
ROS1	6098	broad.mit.edu	37	6	117681060	117681060	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:117681060A>G	ENST00000368508.3	-	23	3758	c.3560T>C	c.(3559-3561)gTt>gCt	p.V1187A	ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1187					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTAGCAAACGGCACTGAT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	83					0	0	0.093190	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183231	39183231	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:39183231A>G	ENST00000361883.5	-	1	223	c.177T>C	c.(175-177)agT>agC	p.S59S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	59	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGCAGCAACTGGAGCTGC	0.617000													4	53					0	0	0.014758	0	0
SEMA3A	10371	broad.mit.edu	37	7	83610760	83610760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:83610760G>A	ENST00000265362.3	-	14	1843	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	510	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGGGAGCTGGGCAACCCCAGC	0.453000													6	25					0	0	0.021553	0	0
GABRB3	2562	broad.mit.edu	37	15	26806279	26806279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr15:26806279G>A	ENST00000541819.2	-	9	1150	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W|GABRB3_ENST00000311550.5_Missense_Mutation_p.R294W			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	294					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGGTCTCCCGAAGGTGGGTG	0.473000													12	47					0	0	0.093190	0	0
FZD1	8321	broad.mit.edu	37	7	90895581	90895581	+	Silent	SNP	C	C	T	rs150597135		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr7:90895581C>T	ENST00000287934.2	+	1	1799	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	462					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCACCATCCTGGCGCTGG	0.647000													27	86					0	0	0.108266	0	0
CD96	10225	broad.mit.edu	37	3	111296359	111296359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:111296359G>C	ENST00000283285.5	+	4	685	c.554G>C	c.(553-555)aGc>aCc	p.S185T	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	185	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAAAACAGCAGCACGGATTCT	0.423000									Opitz Trigonocephaly syndrome				62	331					0	0	0.048971	0	0
MSLNL	401827	broad.mit.edu	37	16	825511	825511	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:825511G>C	ENST00000293892.3	-	5	1249	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCTGGGCAGAACGGCGCTC	0.682000													6	14					0	0	0.029380	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046878	55046878	+	Silent	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:55046878C>A	ENST00000335056.3	+	4	461	c.423C>A	c.(421-423)cgC>cgA	p.R141R	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TGAGCCTGCGCTGTCACTCAG	0.537000													30	30					7.65355e-07	8.23045e-07	0.050027	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668354	176668354	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:176668354G>T	ENST00000367662.3	+	8	4029	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	955					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTGGAGCTGCTCTTCCAAC	0.592000													25	126					2.79863e-10	3.08715e-10	0.099896	1	0
KY	339855	broad.mit.edu	37	3	134323141	134323141	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr3:134323141G>A	ENST00000508956.1	-	10	1260	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.S422S			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	422						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTAGATGTCGGAGTTGCCCT	0.562000													8	60					0	0	0.038147	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:9828063G>A	ENST00000506583.1	-	14	1711	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423000													40	77					0	0	0.042209	0	0
APC	324	broad.mit.edu	37	5	112178579	112178579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:112178579G>C	ENST00000457016.1	+	16	7668	c.7288G>C	c.(7288-7290)Gat>Cat	p.D2430H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D2430H|APC_ENST00000257430.4_Missense_Mutation_p.D2430H			P25054	APC_HUMAN	adenomatous polyposis coli	2430	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTGAATCTGATAGATCAGA	0.373000		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)			17	34					0	0	0.049695	0	0
HR	55806	broad.mit.edu	37	8	21973860	21973860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:21973860G>A	ENST00000381418.4	-	18	4940	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y	HR_ENST00000312841.8_Missense_Mutation_p.H1099Y	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1154	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCCTGGTGGCAGAGCTGA	0.647000													11	13					0	0	0.069234	0	0
FDX1L	112812	broad.mit.edu	37	19	10426650	10426650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:10426650C>T	ENST00000452032.2	-	1	35	c.23G>A	c.(22-24)gGa>gAa	p.G8E	FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.G11E|FDX1L_ENST00000393708.3_Missense_Mutation_p.G8E																							ACTCACGCCTCCCCGGGCCAT	0.662000													3	13					0	0	0.004672	0	0
C10orf71	118461	broad.mit.edu	37	10	50532323	50532323	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:50532323C>T	ENST00000374144.3	+	3	2021	c.1733C>T	c.(1732-1734)gCt>gTt	p.A578V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	578										endometrium(1)	1						GACCCTACAGCTGACCCCAGT	0.547000													14	8					0	0	0.020292	0	0
ESF1	51575	broad.mit.edu	37	20	13753183	13753183	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr20:13753183C>T	ENST00000202816.1	-	5	1335	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGGGCATCTTCAGGAATACTT	0.343000													17	904					0	0	0.024245	0	0
ENTPD6	955	broad.mit.edu	37	20	25199204	25199204	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr20:25199204G>A	ENST00000360031.2	+	10	1076	c.894G>A	c.(892-894)ctG>ctA	p.L298L	ENTPD6_ENST00000433259.2_Silent_p.L299L|ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000376652.4_Silent_p.L299L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	299						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGCTCGGGCTGATGTCGGCAC	0.657000													6	9					0	0	0.038147	0	0
PNLIP	5406	broad.mit.edu	37	10	118306919	118306919	+	Missense_Mutation	SNP	C	C	T	rs142749694		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr10:118306919C>T	ENST00000369221.2	+	3	188	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	54					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.R54C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCAACACCCGCTTCCTCCT	0.468000													35	16					0	0	0.074837	0	0
MPZL1	9019	broad.mit.edu	37	1	167757121	167757121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:167757121C>T	ENST00000359523.2	+	6	975	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	258					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ATTAACAAGTCAGAGTCTGTG	0.438000													24	30					0	0	0.083992	0	0
PHKA2	5256	broad.mit.edu	37	X	18912411	18912411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chrX:18912411G>A	ENST00000379942.4	-	32	4113	c.3448C>T	c.(3448-3450)Ctc>Ttc	p.L1150F	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1150					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTGTCCGAGAGCAGCGTCAGC	0.612000													28	12					0	0	0.108266	0	0
GDF11	10220	broad.mit.edu	37	12	56143303	56143303	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:56143303T>C	ENST00000257868.5	+	3	898	c.861T>C	c.(859-861)ctT>ctC	p.L287L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	287					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCATGGAGCTTCGAGTCCTAG	0.572000													3	64					0	0	0.014758	0	0
ASPM	259266	broad.mit.edu	37	1	197071233	197071233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:197071233C>G	ENST00000367409.4	-	18	7404	c.7148G>C	c.(7147-7149)aGa>aCa	p.R2383T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2383					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGTCTTTGTCTGAGATAATG	0.433000													37	151					0	0	0.086207	0	0
CD2BP2	10421	broad.mit.edu	37	16	30364880	30364880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:30364880G>A	ENST00000305596.3	-	5	792	c.617C>T	c.(616-618)gCc>gTc	p.A206V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	206					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCTGGTCGGCCAACCCGGA	0.657000													3	22					0	0	0.009096	0	0
ESF1	51575	broad.mit.edu	37	20	13698017	13698017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr20:13698017C>G	ENST00000202816.1	-	13	2367	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	754	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATGGTTACCTCAAAGTCATCC	0.378000													20	965					0	0	0.033300	0	0
APC	324	broad.mit.edu	37	5	112177885	112177885	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr5:112177885G>C	ENST00000457016.1	+	16	6974	c.6594G>C	c.(6592-6594)ttG>ttC	p.L2198F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L2198F|APC_ENST00000257430.4_Missense_Mutation_p.L2198F			P25054	APC_HUMAN	adenomatous polyposis coli	2198	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAAAAGTTTGATTACTGGAA	0.358000		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)			13	36					0	0	0.093190	0	0
MACF1	23499	broad.mit.edu	37	1	39797559	39797559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:39797559G>A	ENST00000564288.1	+	37	6076	c.5299G>A	c.(5299-5301)Gaa>Aaa	p.E1767K	MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E1772K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1772					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGTTGCTGGAAGCTCAGCT	0.498000													11	35					0	0	0.080935	0	0
DNAH2	146754	broad.mit.edu	37	17	7667311	7667311	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:7667311C>G	ENST00000572933.1	+	19	4601	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	DNAH2_ENST00000389173.2_Silent_p.L1047L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1047	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGGCGCCTCCTGGAGCTGC	0.622000													7	49					0	0	0.038147	0	0
CNNM3	26505	broad.mit.edu	37	2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	422	CBS 2.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602000													6	34					0	0	0.038147	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226720	152226720	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:152226720A>C	ENST00000243347.3	+	4	656	c.581A>C	c.(580-582)gAa>gCa	p.E194A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	194	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GATTATGTTGAAATATATGAC	0.413000													32	166					0	0	0.069456	0	0
IL4I1	259307	broad.mit.edu	37	19	50399101	50399101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:50399101C>T	ENST00000595948.1	-	5	909	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T|IL4I1_ENST00000391826.2_Missense_Mutation_p.A75T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	75						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCACCTTGGCGGCCACCAGC	0.637000													12	116					0	0	0.024245	0	0
ITGA3	3675	broad.mit.edu	37	17	48145541	48145541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:48145541C>G	ENST00000320031.8	+	4	866	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	179					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GACTGGCAGACCTACCACAAC	0.582000													8	85					0	0	0.038147	0	0
SPEN	23013	broad.mit.edu	37	1	16263993	16263994	+	Frame_Shift_Ins	INS	-	-	C	rs141820706	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:16263993_16263994insC	ENST00000375759.3	+	12	10566_10567	c.10362_10363insC	c.(10360-10365)aaagccfs	p.KA3454fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3454	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCCCCAAAACAGCCGTTGTT	0.579													7	86	---	---	---	---					
CD58	965	broad.mit.edu	37	1	117087209	117087209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:117087209delA	ENST00000457047.2	-	2	141	c.88delT	c.(88-90)ccfs	p.S30fs	CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000369489.5_Frame_Shift_Del_p.S30fs	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	30					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTGTTGGGAAAAACAGCTG	0.343													14	12	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													2	4	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144994620	144994623	+	Frame_Shift_Del	DEL	CATA	CATA	-	rs149688356	byFrequency	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:144994620_144994623delCATA	ENST00000369359.4	-	4	558_561	c.520_523delTATG	c.(520-525)agfs	p.YE174fs	PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	37					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGCTGGCCTCATACTTCTGTTGC	0.608			T	PDGFRB	MPD								9	156	---	---	---	---					
FHL2	2274	broad.mit.edu	37	2	105977793	105977794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:105977793_105977794insG	ENST00000409177.1	-	6	1255_1256	c.1134_1135insC	c.(1132-1137)ggtcctfs	p.P379fs	FHL2_ENST00000408995.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393353.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000409807.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000344213.4_Frame_Shift_Ins_p.P373fs			Q14192	FHL2_HUMAN	four and a half LIM domains 2	263					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTGTGAGGAAGCCACGCCCCA	0.500													30	64	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242433486	242433487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:242433486_242433487insG	ENST00000264042.3	+	27	3281_3282	c.3111_3112insG	c.(3109-3114)gagcccfs	p.P1038fs	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1038					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCGTGCAGGATGGCCCCCAACC	0.634													7	78	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389392	1389393	+	Frame_Shift_Del	DEL	CA	CA	-	rs34525526		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:1389392_1389393delCA	ENST00000324803.4	+	1	4053_4054	c.1093_1094delCA	c.(1093-1095)cfs	p.H365fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	365					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACACGTGCC	0.658													7	287	---	---	---	---					
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2835)gagfs	p.E945fs	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.E293fs|WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.E945fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.E945fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	945					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.510			T	IGH@	MM								7	236	---	---	---	---					
FBXO30	84085	broad.mit.edu	37	6	146126707	146126708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:146126707_146126708insA	ENST00000237281.4	-	2	1000_1001	c.834_835insT	c.(832-837)taacacfs	p.*H278fs		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	278							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAGAAGTGTCATAAGAACTTG	0.356													40	111	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													8	63	---	---	---	---					
ERLIN2	11160	broad.mit.edu	37	8	37595472	37595473	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:37595472_37595473insT	ENST00000276461.5	+	2	99_100	c.32_33insT	c.(31-33)gtcfs	p.V11fs	ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000397228.2_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000518586.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523887.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000523107.1_Frame_Shift_Ins_p.V11fs|ERLIN2_ENST00000335171.6_Frame_Shift_Ins_p.V11fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	11					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGCTGTGGCTTCCAGTTTCT	0.500													13	168	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100479733	100479733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:100479733delG	ENST00000395996.1	+	24	3648	c.3537delG	c.(3535-3537)atfs	p.M1179fs	VPS13B_ENST00000358544.2_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1179					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAACCTATGGGTTGCACCT	0.443													85	348	---	---	---	---					
EPB41L4B	54566	broad.mit.edu	37	9	111945031	111945031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:111945031delA	ENST00000374566.3	-	24	2982	c.2465delT	c.(2464-2466)tcfs	p.F822fs		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	822						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGTGGTGAAAGTATCAGG	0.418													63	50	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	977668	977669	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:977668_977669delCT	ENST00000537687.1	+	9	3419_3420	c.2776_2777delCT	c.(2776-2778)cfs	p.L926fs	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.L1011fs|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Frame_Shift_Del_p.L225fs|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGATCTCCCCTCTCTAGTATT	0.431													9	55	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
FAM57B	83723	broad.mit.edu	37	16	30041770	30041771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30041770_30041771insC	ENST00000380495.4	-	1	809_810	c.78_79insG	c.(76-81)ctcccafs	p.LP26fs		NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	26						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTAGCTGGGGCAGCCGCTGGA	0.634													9	34	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579410	7579420	+	Frame_Shift_Del	DEL	GGGGCCAGGAG	GGGGCCAGGAG	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7579410_7579420delGGGGCCAGGAG	ENST00000420246.2	-	4	399_409	c.267_277delCTCCTGGCCCC	c.(265-279)cctgfs	p.PSWPL89fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PSWPL89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (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.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(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)		GAAGATGACAGGGGCCAGGAGGGGGCTGGTG	0.626		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)			23	52	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35914100	35914101	+	Frame_Shift_Ins	INS	-	-	G	rs147693241	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:35914100_35914101insG	ENST00000339208.6	-	14	1864_1865	c.1724_1725insC	c.(1723-1725)agcfs	p.S575fs	SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000588194.1_5'UTR	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	575	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACTATCGGCTGTTTTAAAATC	0.401													15	146	---	---	---	---					
ZNF155	7711	broad.mit.edu	37	19	44501449	44501450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:44501449_44501450insA	ENST00000270014.2	+	5	1568_1569	c.1440_1441insA	c.(1438-1443)caaaaafs	p.QK480fs	ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.QK480fs|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.QK491fs	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCCACTGCCAGAAAAAACCATT	0.455													23	86	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													10	127	---	---	---	---					
CD58	965	broad.mit.edu	37	1	117087209	117087209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:117087209delA	ENST00000457047.2	-	2	141	c.88delT	c.(88-90)ccfs	p.S30fs	CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000369489.5_Frame_Shift_Del_p.S30fs	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	30					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTGTTGGGAAAAACAGCTG	0.343													14	12	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													2	4	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144994620	144994623	+	Frame_Shift_Del	DEL	CATA	CATA	-	rs149688356	byFrequency	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr1:144994620_144994623delCATA	ENST00000369359.4	-	4	558_561	c.520_523delTATG	c.(520-525)agfs	p.YE174fs	PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.YE37fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	37					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGCTGGCCTCATACTTCTGTTGC	0.608			T	PDGFRB	MPD								9	156	---	---	---	---					
FHL2	2274	broad.mit.edu	37	2	105977793	105977794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:105977793_105977794insG	ENST00000409177.1	-	6	1255_1256	c.1134_1135insC	c.(1132-1137)ggtcctfs	p.P379fs	FHL2_ENST00000393353.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000408995.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000409807.1_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.P263fs|FHL2_ENST00000344213.4_Frame_Shift_Ins_p.P373fs			Q14192	FHL2_HUMAN	four and a half LIM domains 2	263					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTGTGAGGAAGCCACGCCCCA	0.500													30	64	---	---	---	---					
FARP2	9855	broad.mit.edu	37	2	242433486	242433487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr2:242433486_242433487insG	ENST00000264042.3	+	27	3281_3282	c.3111_3112insG	c.(3109-3114)gagcccfs	p.P1038fs	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1038					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCGTGCAGGATGGCCCCCAACC	0.634													7	78	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389392	1389393	+	Frame_Shift_Del	DEL	CA	CA	-	rs34525526		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr4:1389392_1389393delCA	ENST00000324803.4	+	1	4053_4054	c.1093_1094delCA	c.(1093-1095)cfs	p.H365fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	365					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACACGTGCC	0.658													7	287	---	---	---	---					
FBXO30	84085	broad.mit.edu	37	6	146126707	146126708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:146126707_146126708insA	ENST00000237281.4	-	2	1000_1001	c.834_835insT	c.(832-837)taacacfs	p.*H278fs		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	278							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAGAAGTGTCATAAGAACTTG	0.356													40	111	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(187-192)caagca>caCAGagca	p.63_63Q>HR	TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR|TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	63	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													11	47	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100479733	100479733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr8:100479733delG	ENST00000395996.1	+	24	3648	c.3537delG	c.(3535-3537)atfs	p.M1179fs	VPS13B_ENST00000358544.2_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1179					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAACCTATGGGTTGCACCT	0.443													85	348	---	---	---	---					
EPB41L4B	54566	broad.mit.edu	37	9	111945031	111945031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr9:111945031delA	ENST00000374566.3	-	24	2982	c.2465delT	c.(2464-2466)tcfs	p.F822fs		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	822						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGTGGTGAAAGTATCAGG	0.418													63	50	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													15	14	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	977668	977669	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr12:977668_977669delCT	ENST00000537687.1	+	9	3419_3420	c.2776_2777delCT	c.(2776-2778)cfs	p.L926fs	WNK1_ENST00000574564.1_Frame_Shift_Del_p.L225fs|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Frame_Shift_Del_p.L1011fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGATCTCCCCTCTCTAGTATT	0.431													9	55	---	---	---	---					
FAM57B	83723	broad.mit.edu	37	16	30041770	30041771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr16:30041770_30041771insC	ENST00000380495.4	-	1	809_810	c.78_79insG	c.(76-81)ctcccafs	p.LP26fs		NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	26						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTAGCTGGGGCAGCCGCTGGA	0.634													9	34	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579410	7579420	+	Frame_Shift_Del	DEL	GGGGCCAGGAG	GGGGCCAGGAG	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:7579410_7579420delGGGGCCAGGAG	ENST00000420246.2	-	4	399_409	c.267_277delCTCCTGGCCCC	c.(265-279)cctgfs	p.PSWPL89fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PSWPL89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSWPL89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (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.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(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)		GAAGATGACAGGGGCCAGGAGGGGGCTGGTG	0.626		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)			23	52	---	---	---	---					
SYNRG	11276	broad.mit.edu	37	17	35914100	35914101	+	Frame_Shift_Ins	INS	-	-	G	rs147693241	by1000genomes	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr17:35914100_35914101insG	ENST00000339208.6	-	14	1864_1865	c.1724_1725insC	c.(1723-1725)agcfs	p.S575fs	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.S496fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.S497fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.S414fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.S575fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	575	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACTATCGGCTGTTTTAAAATC	0.401													15	146	---	---	---	---					
ZNF155	7711	broad.mit.edu	37	19	44501449	44501450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chr19:44501449_44501450insA	ENST00000270014.2	+	5	1568_1569	c.1440_1441insA	c.(1438-1443)caaaaafs	p.QK480fs	ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.QK480fs|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.QK491fs|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN	zinc finger protein 155	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCCACTGCCAGAAAAAACCATT	0.455													23	86	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dfcbe35-9e78-4629-8a00-96fee7062d1e	9432f890-557b-40b1-9db4-89bffd2748f8	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													10	127	---	---	---	---					
