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
ATAD5	79915	broad.mit.edu	37	17	29161517	29161517	+	Missense_Mutation	SNP	G	G	A	rs147909444	byFrequency	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:29161517G>A	ENST00000321990.4	+	2	796	c.418G>A	c.(418-420)Gat>Aat	p.D140N	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	140					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGTAGCGACGATAGCAAAGA	0.289000													81	265					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32819082	32819082	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:32819082G>C	ENST00000421745.2	+	67	13590	c.13456G>C	c.(13456-13458)Gag>Cag	p.E4486Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4486					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAGACTGCTGAGATAGTTTA	0.383000													20	33					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20522887	20522887	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:20522887C>T	ENST00000359062.3	+	1	709	c.669C>T	c.(667-669)acC>acT	p.T223T	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	223					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGGTCAGGACCGTGTCCCTCA	0.647000													4	64					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48951075	48951075	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr13:48951075G>C	ENST00000267163.4	+	13	1375	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	413	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(9)|p.N406fs*4(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAATCCAAAAGAAAGTATACT	0.348000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			92	19					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452668	64452668	+	Missense_Mutation	SNP	C	C	T	rs111670078		TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:64452668C>T	ENST00000394323.2	-	2	1237	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		246						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttgggttgagcgggtccgagt	0.473000													5	126					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13603304	13603304	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:13603304C>T	ENST00000040738.5	-	10	5355	c.5220G>A	c.(5218-5220)gtG>gtA	p.V1740V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1740				V -> M (in Ref. 4; BAB15299).			DNA binding										CTGAGCAGATCACAAAGTTAT	0.512000													99	83					0	0	1	0	0
IK	3550	broad.mit.edu	37	5	140033597	140033597	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr5:140033597C>T	ENST00000417647.2	+	6	618	c.479C>T	c.(478-480)aCc>aTc	p.T160I		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	160					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAACACACCCATTTGGTG	0.473000													15	1					0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100591463	100591463	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:100591463G>C	ENST00000287482.5	-	2	241	c.101C>G	c.(100-102)tCa>tGa	p.S34*	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_De_novo_Start_OutOfFrame	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	34					centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ATTAGAAACTGATTGTAGTTC	0.328000													4	207					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866325	23866325	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr18:23866325G>A	ENST00000269142.5	+	7	2450	c.1452G>A	c.(1450-1452)gtG>gtA	p.V484V	TAF4B_ENST00000400466.2_Silent_p.V484V|TAF4B_ENST00000578121.1_Silent_p.V484V	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	484					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TTCCATCTGTGAAACCTGTTG	0.478000													122	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807816	215807816	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:215807816C>T	ENST00000366943.2	-	70	15668	c.15282G>A	c.(15280-15282)ccG>ccA	p.P5094P	USH2A_ENST00000307340.3_Silent_p.P5094P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5094					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)		GGTTTTCCCCCGGTGGGTAAA	0.418000										HNSCC(13;0.011)			22	104					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3425704	3425704	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:3425704C>T	ENST00000324266.5	+	4	1412	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.A406V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	406							binding										CTCCTCACAGCCCACGGCCAG	0.582000													8	12					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49994064	49994064	+	Silent	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:49994064G>C	ENST00000544141.1	-	4	1688	c.1089C>G	c.(1087-1089)ctC>ctG	p.L363L	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Silent_p.L453L			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	453						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACTTAATTTGGAGTCCTCCCT	0.532000													91	7					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43916127	43916127	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:43916127C>T	ENST00000562955.1	+	71	10104	c.10104C>T	c.(10102-10104)ttC>ttT	p.F3368F	SZT2_ENST00000372442.1_Silent_p.F2526F	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3425						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAGCCTGTTTCACCCTCTGGA	0.597000													6	107					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95272313	95272313	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr9:95272313G>A	ENST00000344604.5	-	6	1323	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	ECM2_ENST00000444490.2_Silent_p.L370L|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	392					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AACTTCTTCAGAAGCTTAAAA	0.328000													32	18					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153537848	153537848	+	Silent	SNP	T	T	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:153537848T>C	ENST00000410080.1	-	6	889	c.348A>G	c.(346-348)aaA>aaG	p.K116K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	143					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCACATTGATTTCTAAAGAA	0.313000													41	97					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113568738	113568738	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:113568738C>T	ENST00000546530.1	-	3	359	c.74G>A	c.(73-75)aGc>aAc	p.S25N	RASAL1_ENST00000261729.5_Missense_Mutation_p.S25N|RASAL1_ENST00000548055.1_Missense_Mutation_p.S25N|RASAL1_ENST00000446861.3_Missense_Mutation_p.S25N|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	25	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGGGTCGCTGCTCCCAGACCT	0.627000													26	6					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4190638	4190638	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:4190638G>A	ENST00000296358.4	-	6	1755	c.1731C>T	c.(1729-1731)gtC>gtT	p.V577V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	577					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAAAGCCAAAGACAATCTCCT	0.483000													7	102					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	111					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628727	3628727	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:3628727C>G	ENST00000325418.4	+	1	1517	c.1498C>G	c.(1498-1500)Caa>Gaa	p.Q500E	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	500	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CGAAGTGTTTCAAACAATTGC	0.453000													64	12					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380958	69380958	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr8:69380958C>A	ENST00000337103.4	+	3	1898	c.306C>A	c.(304-306)aaC>aaA	p.N102K	C8orf34_ENST00000539993.1_Missense_Mutation_p.N127K|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Missense_Mutation_p.N213K|C8orf34_ENST00000348340.2_Missense_Mutation_p.N127K			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	127					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAAAGTGGAACTGGAGGACTA	0.398000													30	81					2.61193e-14	2.84785e-14	1	1	0
BLVRA	644	broad.mit.edu	37	7	43846743	43846743	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:43846743C>T	ENST00000402924.1	+	9	963	c.800C>T	c.(799-801)tCt>tTt	p.S267F	BLVRA_ENST00000265523.4_Missense_Mutation_p.S267F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	267					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCCAGTTCTCTGAGAAGGAA	0.433000													40	74					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48453412	48453412	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:48453412C>G	ENST00000358536.4	-	28	5376	c.5107G>C	c.(5107-5109)Gta>Cta	p.V1703L	PLXNB1_ENST00000448774.2_Missense_Mutation_p.V314L|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1520L|PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1520L|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1703L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1703					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCTCCCCTACGGAGTCCTAG	0.567000													28	147					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													4	35					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52522315	52522315	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:52522315G>A	ENST00000345716.4	+	16	2941	c.2807G>A	c.(2806-2808)cGc>cAc	p.R936H	NISCH_ENST00000479054.1_Missense_Mutation_p.R936H	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	936					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACAACTGTCGCAACCGCAAC	0.647000													4	120					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586868	142586868	+	Silent	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr5:142586868C>G	ENST00000378004.3	+	21	2449	c.2094C>G	c.(2092-2094)ccC>ccG	p.P698P	ARHGAP26_ENST00000274498.4_Silent_p.P698P|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	701	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCATCCCCCGTCAGGTCTG	0.567000													21	87					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52695817	52695817	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:52695817C>T	ENST00000293525.5	+	1	169	c.117C>T	c.(115-117)cgC>cgT	p.R39R	KRT86_ENST00000544024.1_Silent_p.R39R|KRT86_ENST00000423955.2_Silent_p.R39R	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	39	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTACCGCGGCCTCACCG	0.751000													3	50					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44424179	44424179	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:44424179C>T	ENST00000372343.3	+	10	2458	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	599					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTCCTGCTGTCAGCTCTTCAA	0.547000													4	91					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377239	54377239	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:54377239C>T	ENST00000391769.2	+	3	736	c.456C>T	c.(454-456)gcC>gcT	p.A152A	MYADM_ENST00000391768.2_Silent_p.A152A|MYADM_ENST00000391771.1_Silent_p.A152A|MYADM_ENST00000391770.4_Silent_p.A152A|MYADM_ENST00000336967.3_Silent_p.A152A	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	152	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGGCTTACGCCACCGAAGTGG	0.657000													12	56					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166819632	166819632	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:166819632G>T	ENST00000367875.1	+	5	2176	c.1816G>T	c.(1816-1818)Gct>Tct	p.A606S	POGK_ENST00000367876.4_Missense_Mutation_p.A606S|POGK_ENST00000536514.1_Missense_Mutation_p.A521S|POGK_ENST00000537173.1_Missense_Mutation_p.A488S			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	606					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						CGAAAGCATGGCTGAGAGCAA	0.493000													6	87					0.0293803	0.0295552	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109383113	109383113	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:109383113G>A	ENST00000283195.6	+	20	6244	c.6118G>A	c.(6118-6120)Gta>Ata	p.V2040I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2040	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCACAGCGGGTAAAACTATT	0.388000													6	751					0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41250554	41250554	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:41250554G>A	ENST00000378313.2	-	3	546	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	C19orf54_ENST00000598729.1_Missense_Mutation_p.S12F|C19orf54_ENST00000598485.2_Missense_Mutation_p.S12F|C19orf54_ENST00000339153.3_Missense_Mutation_p.S12F|C19orf54_ENST00000470681.1_Missense_Mutation_p.L5F	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	143										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGCGACAGGAGAGTACCTGCC	0.627000													16	15					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182395316	182395316	+	Silent	SNP	T	T	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:182395316T>C	ENST00000397033.2	+	24	3034	c.2604T>C	c.(2602-2604)agT>agC	p.S868S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	868					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGCAAAAGAGTGCAATGCAGA	0.393000													69	55					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963554	100963554	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:100963554G>T	ENST00000193391.7	-	13	1808	c.1621C>A	c.(1621-1623)Cca>Aca	p.P541T		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	541					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTTTCTTTTGGCACAGGTTGA	0.373000													19	81					2.4624e-09	2.63383e-09	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	14					0.184627	0.184627	1	1	0
VPS54	51542	broad.mit.edu	37	2	64189563	64189563	+	Silent	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:64189563C>A	ENST00000409558.4	-	7	757	c.603G>T	c.(601-603)ctG>ctT	p.L201L	VPS54_ENST00000354504.3_Silent_p.L96L|VPS54_ENST00000272322.4_Silent_p.L213L	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCACAATATCCAGATAATGGC	0.363000													40	84					7.53189e-24	8.54289e-24	1	1	0
MRPS22	56945	broad.mit.edu	37	3	139074601	139074601	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:139074601A>C	ENST00000495075.1	+	9	1388	c.956A>C	c.(955-957)gAt>gCt	p.D319A	MRPS22_ENST00000310776.4_Missense_Mutation_p.D319A|MRPS22_ENST00000465056.1_Missense_Mutation_p.D318A|MRPS22_ENST00000478464.1_Missense_Mutation_p.D278A			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	319						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGGGCCAAGGATCAGGCTGCT	0.428000													7	76					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10084255	10084255	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:10084255G>C	ENST00000287647.3	+	11	889	c.796G>C	c.(796-798)Gtg>Ctg	p.V266L	FANCD2_ENST00000419585.1_Missense_Mutation_p.V266L|FANCD2_ENST00000383806.1_Missense_Mutation_p.V266L|FANCD2_ENST00000383807.1_Missense_Mutation_p.V266L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	266	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCGCCAGTTGGTGATGGATAA	0.343000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	173					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073007	34073007	+	Silent	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:34073007G>T	ENST00000254466.6	-	6	1536	c.1509C>A	c.(1507-1509)atC>atA	p.I503I	GAS2L2_ENST00000587565.1_Silent_p.I487I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	503					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCGGATGGGGATCTTGGTTA	0.612000													13	59					4.36969e-10	4.73383e-10	1	1	0
TENM3	55714	broad.mit.edu	37	4	183601476	183601476	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:183601476G>A	ENST00000511685.1	+	9	1736	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	TENM3_ENST00000406950.2_Missense_Mutation_p.G538E					teneurin transmembrane protein 3									p.G538E(1)									TGTTTTCCAGGATTTCTGGGT	0.413000													4	38					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158588322	158588322	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr5:158588322C>T	ENST00000424310.2	-	10	1937	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	RNF145_ENST00000274542.2_Silent_p.T554T|RNF145_ENST00000518802.1_Silent_p.T556T|RNF145_ENST00000521606.2_Silent_p.T543T|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000520638.1_Silent_p.T540T|RNF145_ENST00000519865.1_Silent_p.T526T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	526						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGCTCTTTCGTAGCAATGG	0.438000													69	9					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573172	64573172	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr10:64573172C>T	ENST00000242480.3	-	2	1551	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	EGR2_ENST00000439032.1_Missense_Mutation_p.R409Q|EGR2_ENST00000411732.1_Missense_Mutation_p.R359Q	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	409			R -> W (in CMT1D).		fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCATCACTCCGGGCAAACTT	0.602000													20	51					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64189497	64189497	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:64189497C>A	ENST00000409558.4	-	7	823	c.669G>T	c.(667-669)atG>atT	p.M223I	VPS54_ENST00000354504.3_Missense_Mutation_p.M118I|VPS54_ENST00000272322.4_Missense_Mutation_p.M235I	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GTTGAGAGGTCATTGCATGAA	0.388000													75	118					8.70598e-44	1.00775e-43	1	1	0
SLC37A3	84255	broad.mit.edu	37	7	140035200	140035200	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:140035200C>T	ENST00000340308.3	-	12	1306	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	SLC37A3_ENST00000447932.2_3'UTR|SLC37A3_ENST00000326232.9_3'UTR	NM_032295.2	NP_115671.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	0					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					CTTTCTGTCTCGCGGGCACCG	0.493000													47	90					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388724	4388724	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:4388724G>A	ENST00000408920.2	-	1	892	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAATGTGGCGTCCAAACCTC	0.463000													22	86					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820557	35820557	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chrX:35820557G>A	ENST00000399989.1	+	2	523	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	MAGEB16_ENST00000399988.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399985.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399987.1_Missense_Mutation_p.E82K|MAGEB16_ENST00000399992.1_Missense_Mutation_p.E114K	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	82										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCATCAAGTGAATCTGATGA	0.512000													25	3					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82519878	82519878	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr15:82519878T>C	ENST00000268206.7	-	11	1273	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V	EFTUD1_ENST00000359445.3_Missense_Mutation_p.I318V|EFTUD1_ENST00000561331.1_5'UTR	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	369					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCAGCTGTAATATCAAGGGGA	0.458000													53	43					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778544	110778544	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:110778544G>A	ENST00000395494.2	+	13	2324	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R	ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614	Interacts with HAX1.				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCTGTGCCGGCAAGCAGGCA	0.577000													4	79					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279993	152279993	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:152279993C>G	ENST00000368799.1	-	3	7404	c.7369G>C	c.(7369-7371)Gag>Cag	p.E2457Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2457	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCCTCTTGGGACGTT	0.592000									Ichthyosis				14	983					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080967	54080967	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:54080967G>A	ENST00000394705.2	-	2	1197	c.927C>T	c.(925-927)atC>atT	p.I309I	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	309						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAGAGGTTGATGGCTGATA	0.532000													15	42					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244843	56244843	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:56244843G>A	ENST00000332836.2	-	2	381	c.354C>T	c.(352-354)caC>caT	p.H118H		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	118						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCTCAGGGACGTGAAGACAGG	0.398000													7	197					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409681	7409681	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr10:7409681G>A	ENST00000361972.4	-	4	456	c.366C>T	c.(364-366)gaC>gaT	p.D122D	SFMBT2_ENST00000379713.3_Silent_p.D122D|SFMBT2_ENST00000379711.2_Silent_p.D122D|SFMBT2_ENST00000397167.1_Silent_p.D122D|SFMBT2_ENST00000397160.3_Silent_p.D122D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	122					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CGATGACTACGTCACACCAGA	0.597000													6	169					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44100928	44100928	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:44100928G>A	ENST00000272286.2	+	9	1304	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	405			R -> H (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTTAAGTCGTCAGATTTCC	0.512000													6	240					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18541300	18541300	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr8:18541300G>C	ENST00000428502.2	-	1	309	c.143C>G	c.(142-144)tCt>tGt	p.S48C	PSD3_ENST00000523619.1_Intron|PSD3_ENST00000286485.8_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	720					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTCCTTAGCAGAAAACTCTGA	0.468000													103	18					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454715	53454715	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:53454715C>T	ENST00000357666.4	-	5	613	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.E105K|ZNF816_ENST00000391786.2_3'UTR|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTCTTCATTTCTGGGAAGCAA	0.403000													6	262					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175324729	175324729	+	Silent	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:175324729G>T	ENST00000367674.2	-	17	3867	c.3159C>A	c.(3157-3159)acC>acA	p.T1053T	TNR_ENST00000263525.2_Silent_p.T1053T			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTTTGTCTGGTGACTTCAC	0.547000													10	115					3.86212e-05	4.00428e-05	1	1	0
PPARG	5468	broad.mit.edu	37	3	12434135	12434135	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:12434135G>A	ENST00000397026.2	+	6	820	c.437G>A	c.(436-438)aGa>aAa	p.R146K	PPARG_ENST00000309576.6_Missense_Mutation_p.R140K|PPARG_ENST00000539812.1_Missense_Mutation_p.R138K|PPARG_ENST00000397015.2_Missense_Mutation_p.R140K|PPARG_ENST00000397012.2_Missense_Mutation_p.R140K|PPARG_ENST00000397000.1_Missense_Mutation_p.R140K|PPARG_ENST00000397010.2_Missense_Mutation_p.R140K|PPARG_ENST00000287820.6_Missense_Mutation_p.R168K			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	168					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGAACAATCAGATTGAAGCTT	0.383000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						76	88					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3789862	3789862	+	Silent	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:3789862G>T	ENST00000324932.7	-	8	1317	c.897C>A	c.(895-897)ggC>ggA	p.G299G	NUP98_ENST00000359171.4_Silent_p.G299G|NUP98_ENST00000397007.4_Silent_p.G299G|NUP98_ENST00000355260.3_Silent_p.G299G|NUP98_ENST00000397004.4_Silent_p.G299G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	299	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGAAAAGCCAGTGTTCT	0.463000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	130					0.014758	0.0149347	1	1	0
C2orf44	80304	broad.mit.edu	37	2	24260579	24260579	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:24260579G>C	ENST00000295148.4	-	2	1843	c.1786C>G	c.(1786-1788)Caa>Gaa	p.Q596E	C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	596							protein binding	p.Q596E(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGATCTTGAGAGAGTGGA	0.403000			T	ALK	NSCLC								4	256					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149462144	149462144	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:149462144C>T	ENST00000302017.3	-	5	1860	c.1447G>A	c.(1447-1449)Ggc>Agc	p.G483S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGGCGCCGCTGTGGGCC	0.746000													5	11					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905973	5905973	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:5905973G>T	ENST00000316987.2	+	1	473	c.451G>T	c.(451-453)Gtt>Ttt	p.V151F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGTGGTTGTTGGAAGAAA	0.458000													51	91					3.39706e-21	3.82735e-21	1	1	0
QSER1	79832	broad.mit.edu	37	11	32949665	32949665	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:32949665G>A	ENST00000399302.2	+	3	428	c.93G>A	c.(91-93)caG>caA	p.Q31Q	QSER1_ENST00000527788.1_Silent_p.Q31Q|QSER1_ENST00000527250.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	31										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATCCTGGCAGACAGGTGATT	0.418000													30	55					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713981	183713981	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:183713981A>C	ENST00000511685.1	+	26	6279	c.6156A>C	c.(6154-6156)aaA>aaC	p.K2052N	TENM3_ENST00000406950.2_Missense_Mutation_p.K2052N					teneurin transmembrane protein 3																		TTTCTGGCAAAGTTGAGCAGT	0.403000													9	117					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592438	81592438	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr15:81592438C>T	ENST00000394660.2	+	14	3131	c.2771C>T	c.(2770-2772)cCc>cTc	p.P924L	IL16_ENST00000302987.4_Missense_Mutation_p.P924L|IL16_ENST00000394652.2_Missense_Mutation_p.P223L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	924					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCCCCTCCCCCAGGGCGG	0.652000													19	55					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294584	114294584	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:114294584G>A	ENST00000357077.4	+	45	11891	c.11838G>A	c.(11836-11838)aaG>aaA	p.K3946K	ANK2_ENST00000394537.3_Silent_p.K1861K|ANK2_ENST00000510275.2_Silent_p.K544K|ANK2_ENST00000506722.1_Silent_p.K1852K|ANK2_ENST00000509550.1_Silent_p.K1037K|ANK2_ENST00000264366.6_Silent_p.K3913K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3913					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGTATTGAAGAGTGACACCG	0.433000													49	76					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117641	58117641	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:58117641C>G	ENST00000332854.6	+	3	968	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGTCAAAGTTCTGG	0.413000													5	77					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786659	3786659	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr16:3786659C>T	ENST00000262367.5	-	27	5361	c.4552G>A	c.(4552-4554)Gac>Aac	p.D1518N	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1480N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1518	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACCTTGTAGTCATGGATGATC	0.478000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						5	115					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014650	75014650	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr15:75014650C>T	ENST00000379727.3	-	2	987	c.789G>A	c.(787-789)caG>caA	p.Q263Q	CYP1A1_ENST00000395048.2_Silent_p.Q263Q|CYP1A1_ENST00000395049.4_Silent_p.Q263Q|CYP1A1_ENST00000567032.1_Silent_p.Q263Q|CYP1A1_ENST00000564596.1_Silent_p.Q2Q			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	263					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGACCATCTTCTGCATGAAGC	0.517000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				11	30					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52775183	52775183	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:52775183G>A	ENST00000257951.3	-	5	1105	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	347	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCGGCTGCGCCTGGCCACC	0.567000													7	225					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731987	92731987	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:92731987C>T	ENST00000379958.2	-	3	3693	c.3424G>A	c.(3424-3426)Ggg>Agg	p.G1142R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1142						cytoplasm		p.G1142W(1)|p.G1142R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAATGTTCCCGTTTCCTCCG	0.368000													7	270					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691628	30691628	+	Silent	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr6:30691628C>G	ENST00000396389.1	+	4	1328	c.735C>G	c.(733-735)ctC>ctG	p.L245L	TUBB_ENST00000396384.1_Silent_p.L191L|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Silent_p.L191L|TUBB_ENST00000327892.8_Silent_p.L263L			P07437	TBB5_HUMAN	tubulin, beta class I	263					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCCCACGTCTCCATTTCTTTA	0.587000													5	104					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223446	36223446	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:36223446G>T	ENST00000420124.1	+	28	5996	c.5996G>T	c.(5995-5997)gGg>gTg	p.G1999V	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.G1999V					lysine (K)-specific methyltransferase 2B																		AGCCTGCTGGGGACTGAGCCC	0.672000													5	91					0.014758	0.0149347	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	23					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52797518	52797518	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:52797518C>T	ENST00000233027.5	-	5	991	c.789G>A	c.(787-789)cgG>cgA	p.R263R	NEK4_ENST00000535191.1_Silent_p.R174R|NEK4_ENST00000383721.4_Silent_p.R263R	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	263					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGGAGATTTGCCGCTTTATAT	0.468000													5	471					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49194959	49194959	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:49194959G>T	ENST00000340334.7	-	11	1498	c.1130C>A	c.(1129-1131)gCa>gAa	p.A377E	FOLH1_ENST00000343844.4_Missense_Mutation_p.A84E|FOLH1_ENST00000356696.3_Missense_Mutation_p.A392E|FOLH1_ENST00000533034.1_Missense_Mutation_p.A377E|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.A392E	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	392	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AACAACAGCTGCTCCACTCTG	0.413000													4	173					3.59834e-05	3.75382e-05	1	1	0
TCTN2	79867	broad.mit.edu	37	12	124156667	124156667	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:124156667G>A	ENST00000303372.5	+	3	383	c.255G>A	c.(253-255)gtG>gtA	p.V85V	TCTN2_ENST00000426174.2_Silent_p.V85V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	85					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GCGTGACTGTGATCCCCGGTG	0.507000													29	136					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118831994	118831994	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr8:118831994G>A	ENST00000378204.2	-	6	2263	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	486			A -> V (in EXT1; no loss of activity).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGGGGTCACCGCATGGATGAC	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				11	204					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924288	44924288	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:44924288C>T	ENST00000395699.2	-	1	672	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	220	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						AGGTGCCCTCCGGGAGCTCTC	0.662000													55	99					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875926	247875926	+	Silent	SNP	A	A	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:247875926A>G	ENST00000302084.2	-	1	179	c.132T>C	c.(130-132)gcT>gcC	p.A44A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACATCAAGATAGCCACATTAC	0.458000													8	225					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66250562	66250562	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:66250562T>A	ENST00000359904.3	+	5	1736	c.604T>A	c.(604-606)Ttt>Att	p.F202I	AMZ2_ENST00000392720.2_Missense_Mutation_p.F202I|AMZ2_ENST00000580753.1_Missense_Mutation_p.F202I|AMZ2_ENST00000359783.4_Missense_Mutation_p.F144I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.F202I|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.F202I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	202							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATATTCAGCTTTGCCAGGTA	0.403000													4	154					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848538	83848538	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr6:83848538G>A	ENST00000349129.2	+	21	5037	c.4777G>A	c.(4777-4779)Gaa>Aaa	p.E1593K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1574K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1584K|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1593					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGTTCTAGAACACAGAGT	0.408000													5	133					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93521546	93521546	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr15:93521546C>T	ENST00000394196.4	+	21	3728	c.2660C>T	c.(2659-2661)tCt>tTt	p.S887F	CHD2_ENST00000557381.1_Missense_Mutation_p.S887F	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	887	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ATCTTTGACTCTGACTGGAAC	0.493000													41	65					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116593109	116593109	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr10:116593109A>G	ENST00000369248.4	+	3	577	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y81C|FAM160B1_ENST00000369246.1_Missense_Mutation_p.Y81C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	81										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGTATGGAATATTTGCTTCAT	0.398000													5	108					0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119272	19119272	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr22:19119272C>T	ENST00000399635.2	+	1	952	c.360C>T	c.(358-360)ctC>ctT	p.L120L	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	120	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCCGACAGCTCTCCTCCGCCG	0.582000													53	11					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699404	49699404	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:49699404G>A	ENST00000296452.4	+	6	10240	c.10126G>A	c.(10126-10128)Gaa>Aaa	p.E3376K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3376					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCGCCTATTGAAGAGGCCAA	0.577000													43	57					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420609	203420609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:203420609C>T	ENST00000374580.4	+	12	2760	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	741					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCTGCCTACTCAGATCTATCC	0.453000													15	70					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483751	102483751	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:102483751C>G	ENST00000360184.4	+	40	8251	c.8087C>G	c.(8086-8088)tCa>tGa	p.S2696*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2696	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACCGTACCTCAGATCAAACA	0.507000													62	51					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187631	152187631	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:152187631G>A	ENST00000368801.2	-	3	6549	c.6474C>T	c.(6472-6474)cgC>cgT	p.R2158R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACCATAGCGGGAAGACG	0.612000													298	5913					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170048404	170048404	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:170048404C>G	ENST00000263816.3	-	48	9255	c.8970G>C	c.(8968-8970)agG>agC	p.R2990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2990	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCAAGTTCTCCTGGTGCAAT	0.478000													33	76					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280602	152280602	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:152280602C>T	ENST00000368799.1	-	3	6795	c.6760G>A	c.(6760-6762)Gaa>Aaa	p.E2254K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2254	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGAATCTTCTGAGTGTCCC	0.582000									Ichthyosis				7	715					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247186	142247186	+	RNA	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:142247186C>T	ENST00000390361.3	-	0	319																											AGACGGATCCCTCAGGCCTGA	0.582000													11	103					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368397	111368397	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr7:111368397T>G	ENST00000428084.1	-	53	6133	c.5861A>C	c.(5860-5862)aAt>aCt	p.N1954T	DOCK4_ENST00000437633.1_Missense_Mutation_p.N1945T|DOCK4_ENST00000494651.2_Missense_Mutation_p.N828T			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1945	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCGGGCCCCATTCTCCAGGTG	0.667000													9	33					0	0	1	0	0
ORM2	5005	broad.mit.edu	37	9	117093902	117093902	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr9:117093902G>A	ENST00000431067.2	+	4	420	c.384G>A	c.(382-384)ttG>ttA	p.L128L	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1			orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CCAAGACCTTGATGTTTGGTT	0.537000													49	29					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241797277	241797277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:241797277G>A	ENST00000366553.1	-	1	1955	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	598					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAGATCTCCTGGAAAAGTGTT	0.473000													4	146					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420188	27420188	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr6:27420188G>A	ENST00000211936.6	-	6	1434	c.1150C>T	c.(1150-1152)Cat>Tat	p.H384Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H384Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCAGTATGAATTTTTTGA	0.368000													29	55					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74074474	74074474	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr18:74074474C>T	ENST00000443185.2	-	8	3788	c.3471G>A	c.(3469-3471)gtG>gtA	p.V1157V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTCTCAGAGGCACTGTCTGGA	0.527000													4	20					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836000	139836000	+	Silent	SNP	C	C	T	rs145980462		TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr9:139836000C>T	ENST00000325285.3	-	7	1312	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	411							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGTTGTCGGGCGACAGGCCCA	0.672000													6	18					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19732084	19732084	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr21:19732084C>A	ENST00000284885.3	-	8	903	c.870G>T	c.(868-870)aaG>aaT	p.K290N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	290	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CTCTTAAAATCTTGCTTGATC	0.279000													17	105					9.16793e-09	9.74453e-09	1	1	0
ZMYM4	9202	broad.mit.edu	37	1	35836149	35836149	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:35836149C>G	ENST00000314607.6	+	7	1182	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.L368V|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	368					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTCCACACTGTGCCTCAC	0.463000													4	129					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327209	327209	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:327209C>T	ENST00000264819.4	-	5	427	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGATTGCGTCTCTTCCT	0.463000													10	401					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1123867	1123867	+	Silent	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr10:1123867G>T	ENST00000358220.1	+	3	303	c.159G>T	c.(157-159)tcG>tcT	p.S53S	WDR37_ENST00000263150.4_Silent_p.S53S|WDR37_ENST00000381329.1_Silent_p.S53S			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	53										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGCCTTCCTCGGTTCGCAGTA	0.313000													60	143					1.42676e-28	1.62921e-28	1	1	0
NBEA	26960	broad.mit.edu	37	13	35734101	35734101	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr13:35734101G>A	ENST00000400445.3	+	22	4327	c.3793G>A	c.(3793-3795)Gaa>Aaa	p.E1265K	NBEA_ENST00000540320.1_Missense_Mutation_p.E1265K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1265K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1265K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1265						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTCAGATACTGAAAGGTCTGA	0.363000													10	2					0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97483043	97483043	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:97483043G>A	ENST00000305510.3	+	1	1057	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CNNM3_ENST00000377060.3_Silent_p.Q343Q	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	343	CBS 1.				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						GCATCATGCAGAGCGGCCACA	0.637000													14	28					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004562	94004562	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:94004562C>G	ENST00000553484.1	+	12	1504	c.1350C>G	c.(1348-1350)atC>atG	p.I450M	UNC79_ENST00000555664.1_Missense_Mutation_p.I450M|UNC79_ENST00000393151.2_Missense_Mutation_p.I450M|UNC79_ENST00000256339.4_Missense_Mutation_p.I273M			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	450						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCCGTGATCAGGTAACACG	0.557000													6	13					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1081917	1081917	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:1081917C>T	ENST00000313093.2	+	19	2705	c.2474C>T	c.(2473-2475)tCg>tTg	p.S825L	HMHA1_ENST00000590214.1_Missense_Mutation_p.S852L|HMHA1_ENST00000539243.2_Missense_Mutation_p.S841L|HMHA1_ENST00000590577.1_Missense_Mutation_p.S460L|HMHA1_ENST00000543365.1_Missense_Mutation_p.S708L|HMHA1_ENST00000586866.1_Missense_Mutation_p.S829L|HMHA1_ENST00000536472.1_Missense_Mutation_p.S693L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	825	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAGGCCTCGCCCCACGAC	0.647000													6	9					0	0	1	0	0
IGFLR1	79713	broad.mit.edu	37	19	36230773	36230773	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:36230773G>C	ENST00000592537.1	-	4	659	c.559C>G	c.(559-561)Ctc>Gtc	p.L187V	IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.L187V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	187						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGCCAGCAGAGATGCCAGAGC	0.612000													6	195					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152527322	152527322	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr6:152527322T>C	ENST00000367255.5	-	126	23601	c.23000A>G	c.(22999-23001)aAa>aGa	p.K7667R	SYNE1_ENST00000356820.4_Missense_Mutation_p.K2191R|SYNE1_ENST00000265368.4_Missense_Mutation_p.K7667R|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7596R|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7596R|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7279R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7667					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGGCTAGTTTTTTCTTCTG	0.448000										HNSCC(10;0.0054)			18	47					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518438	161518438	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:161518438T>C	ENST00000367969.3	-	3	383	c.200A>G	c.(199-201)gAg>gGg	p.E67G	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.E31G|FCGR3A_ENST00000443193.1_Missense_Mutation_p.E66G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.E31G|RP11-25K21.6_ENST00000537821.2_RNA	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	31	Ig-like C2-type 1.				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)	CCATTGAGGCTCCAGGAACAC	0.552000													7	220					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110257751	110257751	+	Splice_Site	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:110257751G>T	ENST00000369813.1	+	5	1238		c.e5-1		GSTM5_ENST00000492718.1_Splice_Site|GSTM5_ENST00000256593.3_Splice_Site|GSTM5_ENST00000369812.5_Splice_Site			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.?(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCCTTCTTCAGATCACCTTTG	0.448000													117	78					8.97248e-49	1.04576e-48	1	1	0
SPN	6693	broad.mit.edu	37	16	29675414	29675414	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr16:29675414C>A	ENST00000360121.3	+	2	457	c.365C>A	c.(364-366)gCa>gAa	p.A122E	SPN_ENST00000395389.2_Missense_Mutation_p.A122E	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	122					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CCCATAACAGCAAACTCTCTA	0.522000													13	83					1.05317e-09	1.13367e-09	1	1	0
GSS	2937	broad.mit.edu	37	20	33519217	33519217	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr20:33519217C>T	ENST00000216951.2	-	11	1131	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	GSS_ENST00000451957.2_Missense_Mutation_p.E234K|GSS_ENST00000541098.1_Missense_Mutation_p.E217K	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	345					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TCCCCTTCTTCACCCTGGCAG	0.552000													22	24					0	0	1	0	0
METTL5	29081	broad.mit.edu	37	2	170678532	170678532	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:170678532C>A	ENST00000410097.1	-	3	280	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	METTL5_ENST00000409837.1_Missense_Mutation_p.D49Y|METTL5_ENST00000392640.2_Missense_Mutation_p.D49Y|METTL5_ENST00000260953.5_Missense_Mutation_p.D49Y|METTL5_ENST00000409965.1_Missense_Mutation_p.D49Y|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000308099.3_Missense_Mutation_p.D49Y			Q9NRN9	METL5_HUMAN	methyltransferase like 5	49							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTTTCAATGTCATCATAAGTG	0.348000													40	154					7.62715e-32	8.76862e-32	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105417197	105417197	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:105417197A>C	ENST00000333244.5	-	7	4710	c.4591T>G	c.(4591-4593)Tcc>Gcc	p.S1531A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1531						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTGCATGGAGGGGAGGCTC	0.637000													24	481					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76549820	76549820	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:76549820G>T	ENST00000314067.6	+	9	561	c.527G>T	c.(526-528)tGg>tTg	p.W176L	IFT43_ENST00000238628.6_Missense_Mutation_p.W181L	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	176					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCTGGGACTGGGACCATCTG	0.587000													27	65					3.73988e-18	4.13098e-18	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44948987	44948987	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chrX:44948987G>A	ENST00000377967.4	+	25	3589		c.e25-1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTATTTCAGAAATAATTTG	0.323000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								37	1					0	0	1	0	0
RPS10-NUDT3	100529239	broad.mit.edu	37	6	34392899	34392899	+	Missense_Mutation	SNP	C	C	G	rs148020948		TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr6:34392899C>G	ENST00000605528.1	-	2	116	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	RPS10_ENST00000344700.3_Missense_Mutation_p.E34Q|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000326199.8_Missense_Mutation_p.E34Q	NM_001202470.2	NP_001189399.1																					TCTGCCAGCTCCGGGTGCTTA	0.522000													24	25					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243349238	243349238	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:243349238C>T	ENST00000366542.1	-	10	1460	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	470						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGGCTTGGTCTGTGCCCAAG	0.403000													28	90					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288369	61288369	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr20:61288369C>T	ENST00000217159.1	+	2	768	c.563C>T	c.(562-564)gCg>gTg	p.A188V	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A188V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	188					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CTGGTGTTCGCGCTGCCCCAC	0.692000													11	55					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190994	42190994	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:42190994C>A	ENST00000006724.3	-	2	424	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A75S|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A75S|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A75S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	75	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGATAGTTGGCATGCACCCTT	0.458000													37	177					6.53348e-20	7.3123e-20	1	1	0
PAQR6	79957	broad.mit.edu	37	1	156214491	156214491	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:156214491C>T	ENST00000335852.1	-	6	1118	c.503G>A	c.(502-504)aGa>aAa	p.R168K	PAQR6_ENST00000292291.5_Intron|PAQR6_ENST00000492619.1_Intron|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000356983.2_Missense_Mutation_p.R168K	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGTTCATTCTGTGCTCTGG	0.567000													15	42					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837475	53837475	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:53837475C>T	ENST00000288139.4	+	45	5639	c.5521C>T	c.(5521-5523)Cca>Tca	p.P1841S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1821S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1797S|CACNA1D_ENST00000544977.1_Missense_Mutation_p.P200S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	TGAACAGCTCCCAACTATTTG	0.552000													5	184					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699251	56699251	+	Missense_Mutation	SNP	C	C	G	rs61754800	byFrequency	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr8:56699251C>G	ENST00000260129.5	+	4	1271	c.794C>G	c.(793-795)tCg>tGg	p.S265W		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	265					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)			TTTGATGCCTCGCAAAGCTGT	0.363000													62	121					0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47838083	47838083	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr20:47838083C>T	ENST00000371764.4	+	2	290	c.281C>T	c.(280-282)aCg>aTg	p.T94M	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	94	Asp/Glu/Lys-rich.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGGAGGGGACGTACGATGGC	0.522000													32	36					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883790	228883790	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:228883790C>T	ENST00000392056.3	-	7	1826	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E594K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	594						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAAGCCTCAGCTGCAGGC	0.567000													15	40					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373058	126373058	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr4:126373058C>T	ENST00000394329.3	+	9	10900	c.10887C>T	c.(10885-10887)ccC>ccT	p.P3629P	FAT4_ENST00000335110.5_Silent_p.P1927P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3629					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTTGTTTCCCGGTGGGATTT	0.448000													4	129					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17316686	17316686	+	Missense_Mutation	SNP	C	C	A	rs137955309	byFrequency	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:17316686C>A	ENST00000452699.1	-	21	2522	c.2333G>T	c.(2332-2334)cGg>cTg	p.R778L	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R783L|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R778L	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	783					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGCTGACCCCGCTCAGGGTG	0.647000													34	29					4.3181e-19	4.80104e-19	1	1	0
DNAAF2	55172	broad.mit.edu	37	14	50101108	50101108	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:50101108G>A	ENST00000298292.8	-	1	840	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R254C	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	254					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						ACGCTGTAGCGAGGCTCGGTG	0.711000													4	20					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	106					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246349	19246349	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:19246349G>A	ENST00000527884.1	-	13	2692	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.A820A	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	820					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAACTTTCGGCCACTAATT	0.473000													3	50					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615694	55615694	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:55615694G>T	ENST00000326258.1	+	1	886	c.886G>T	c.(886-888)Gaa>Taa	p.E296*		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GAGGAACAATGAAGTGAAAGG	0.433000													25	89					1.68575e-08	1.78058e-08	1	1	0
RYR2	6262	broad.mit.edu	37	1	237947385	237947385	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:237947385G>A	ENST00000366574.2	+	90	12690	c.12373G>A	c.(12373-12375)Gtc>Atc	p.V4125I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4123I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGAGCGTCCTGAATTA	0.512000													18	76					0	0	1	0	0
TMEM95	339168	broad.mit.edu	37	17	7260006	7260006	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:7260006C>T	ENST00000389982.4	+	7	660	c.578C>T	c.(577-579)cCa>cTa	p.P193L	TMEM95_ENST00000330767.4_3'UTR|TMEM95_ENST00000576060.1_3'UTR			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	0						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				TCACAACTTCCACATCCCTTG	0.542000													10	24					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34842462	34842462	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr19:34842462C>A	ENST00000299505.6	+	13	3742	c.2869C>A	c.(2869-2871)Cca>Aca	p.P957T	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	957										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCTGCCCTCACCACCTCTCCT	0.587000													6	154					8.12818e-05	8.37599e-05	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56202326	56202326	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr18:56202326G>A	ENST00000361673.3	-	5	5306	c.5093C>T	c.(5092-5094)tCg>tTg	p.S1698L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1698							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						GGTCCCTGGCGATTTGCCTGC	0.552000													73	61					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109807624	109807624	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:109807624G>C	ENST00000271332.3	+	12	5660	c.5599G>C	c.(5599-5601)Gag>Cag	p.E1867Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1867	EGF-like 6; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCATACTGTGAGACCAGGTA	0.602000													6	135					0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68642644	68642644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:68642644C>A	ENST00000538666.1	-	6	545	c.475G>T	c.(475-477)Gga>Tga	p.G159*	IL22_ENST00000328087.4_Nonsense_Mutation_p.G159*			Q9GZX6	IL22_HUMAN	interleukin 22	159					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TTGATCTCTCCACTCTCTCCA	0.368000													772	238					0	0	1	1	0
INTS5	80789	broad.mit.edu	37	11	62414839	62414839	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:62414839C>G	ENST00000330574.2	-	2	2765	c.2713G>C	c.(2713-2715)Gag>Cag	p.E905Q		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	905					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CAGGATGCCTCCAGGTGCCAG	0.617000													74	42					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113295146	113295146	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr11:113295146G>A	ENST00000362072.3	-	2	572	c.228C>T	c.(226-228)ctC>ctT	p.L76L	DRD2_ENST00000542968.1_Silent_p.L76L|DRD2_ENST00000544518.1_Silent_p.L76L|DRD2_ENST00000346454.3_Silent_p.L76L|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Silent_p.L76L|DRD2_ENST00000355319.2_Silent_p.L76L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	76					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGGCCACTGCGAGGCTGACGA	0.627000													13	34					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165859512	165859512	+	Silent	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:165859512C>T	ENST00000367879.4	+	2	474	c.171C>T	c.(169-171)gtC>gtT	p.V57V	UCK2_ENST00000372212.4_Silent_p.V57V	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	57					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AGCAGGTGGTCATCCTGAGCC	0.572000													61	60					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66268801	66268801	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:66268801C>T	ENST00000327268.4	-	5	648	c.484G>A	c.(484-486)Gct>Act	p.A162T	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.A162T	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	162						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCAAACACAGCGAAACATTCT	0.438000													31	143					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6424246	6424246	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr12:6424246G>C	ENST00000449001.2	+	3	768	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E124Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E124Q|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E124Q	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	124					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCTGCCCCCTGAGGACCGGCG	0.637000													4	83					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	79					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608072	84608072	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr9:84608072G>A	ENST00000344803.2	+	4	2734	c.2687G>A	c.(2686-2688)aGt>aAt	p.S896N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCCTTCCTTAGTTCCAACAAA	0.433000													5	252					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156262910	156262927	+	In_Frame_Del	DEL	CCCTGGGGCACCCAGGGC	CCCTGGGGCACCCAGGGC	-			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr1:156262910_156262927delCCCTGGGGCACCCAGGGC	ENST00000362007.1	-	6	1155_1172	c.1129_1146delGCCCTGGGTGCCCCAGGG	c.(1129-1146)gccctgggtgccccagggdel	p.ALGAPG377del	C1orf85_ENST00000482579.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	377					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GCAGCATGAGCCCTGGGGCACCCAGGGCCACTGCCATG	0.592													39	135	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917	by1000genomes	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653													2	4	---	---	---	---					
IGHV4-59	28392	broad.mit.edu	37	14	107083153	107083154	+	RNA	DEL	CG	CG	-			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr14:107083153_107083154delCG	ENST00000455737.1	-	0	404																											CTGTGGGCCCCGCGCGCCCCCT	0.693													11	62	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													8	35	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67974104	67974112	+	In_Frame_Del	DEL	GCCCACGCC	GCCCACGCC	-	rs112299487		TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr16:67974104_67974112delGCCCACGCC	ENST00000264005.5	-	6	1047_1055	c.1018_1026delGGCGTGGGC	c.(1018-1026)ggcgtgggcdel	p.GVG340del		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	340					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAG	0.608													23	142	---	---	---	---					
TRIM47	91107	broad.mit.edu	37	17	73872347	73872359	+	Frame_Shift_Del	DEL	AGGAAGCTGACTG	AGGAAGCTGACTG	-			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr17:73872347_73872359delAGGAAGCTGACTG	ENST00000254816.2	-	3	1012_1024	c.986_998delCAGTCAGCTTCCT	c.(985-999)tcagtcagcttcctgfs	p.SVSFL329fs	TRIM47_ENST00000587339.1_Frame_Shift_Del_p.SVSFL91fs	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	329						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCACCTGCAGGAAGCTGACTGAGTCAGCTTC	0.657													7	42	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													8	180	---	---	---	---					
LINC00479	150135	broad.mit.edu	37	21	43132647	43132647	+	RNA	DEL	C	C	-			TCGA-E7-A7PW-01A-11D-A34U-08	TCGA-E7-A7PW-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1e8febe-171e-484d-a3c7-ff7569805eba	3dbdcf72-42c9-4918-9a82-f3889228cc92	g.chr21:43132647delC	ENST00000412102.1	-	0	1065					NR_027272.1																						agcctgacagcagccgctcgc	0.667													2	4	---	---	---	---					
