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
SKIV2L2	23517	broad.mit.edu	37	5	54624545	54624545	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:54624545G>C	ENST00000230640.5	+	5	675	c.421G>C	c.(421-423)Gat>Cat	p.D141H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D40H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	141					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTTCATTCTTGATGCTTTTCA	0.373000													3	39					0	0	0.115264	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685020	75685020	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:75685020C>T	ENST00000370855.5	-	16	1301	c.1188G>A	c.(1186-1188)gcG>gcA	p.A396A	SLC44A5_ENST00000370859.3_Silent_p.A396A|SLC44A5_ENST00000535611.1_Silent_p.A266A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCCGATGTCGCCAAGAAAC	0.393000													7	20					0	0	0.248553	0	0
SRCAP	10847	broad.mit.edu	37	16	30740307	30740307	+	Silent	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:30740307G>T	ENST00000262518.4	+	26	6064	c.5679G>T	c.(5677-5679)cgG>cgT	p.R1893R	SRCAP_ENST00000344771.4_Silent_p.R1735R|SRCAP_ENST00000395059.2_Silent_p.R1831R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1893					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGAAAAGCGGAAGCGGCAGC	0.527000													20	80					1.28384e-07	1.48471e-07	0.608945	1	0
TBC1D24	57465	broad.mit.edu	37	16	2549370	2549370	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:2549370G>A	ENST00000567020.1	+	4	1277	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	TBC1D24_ENST00000293970.5_Silent_p.Q385Q|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Silent_p.Q385Q	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	385	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTACTTCCAGTGTGAAGGAC	0.642000													3	29					0	0	0.115264	0	0
KLHL4	56062	broad.mit.edu	37	X	86888891	86888891	+	Silent	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:86888891T>A	ENST00000373119.4	+	8	1837	c.1692T>A	c.(1690-1692)ggT>ggA	p.G564G	KLHL4_ENST00000373114.4_Silent_p.G564G	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	564						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCACAGTTGGTGTTGTTGCAT	0.418000													4	43					0	0	0.248553	0	0
RGAG1	57529	broad.mit.edu	37	X	109694853	109694853	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:109694853A>G	ENST00000465301.2	+	3	1254	c.1008A>G	c.(1006-1008)ttA>ttG	p.L336L	RGAG1_ENST00000540313.1_Silent_p.L336L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	336										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCACATTACCAAAGCCAG	0.522000													32	375					0	0	0.729181	0	0
PILRA	29992	broad.mit.edu	37	7	99987664	99987664	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:99987664C>T	ENST00000198536.2	+	3	820	c.608C>T	c.(607-609)gCt>gTt	p.A203V	PILRA_ENST00000453419.1_Intron|PILRA_ENST00000350573.2_Intron|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	203					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGCAGTGGCTGTCACTGTG	0.582000													5	68					0	0	0.217242	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168902	32168902	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:32168902G>A	ENST00000375023.3	-	22	4269	c.4131C>T	c.(4129-4131)ctC>ctT	p.L1377L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1377					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCCAGCACTGAGGGAGTCGG	0.592000													6	66					0	0	0.217242	0	0
NCOA3	8202	broad.mit.edu	37	20	46264276	46264276	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:46264276A>G	ENST00000372004.3	+	11	1539	c.1323A>G	c.(1321-1323)tcA>tcG	p.S441S	NCOA3_ENST00000371997.3_Silent_p.S451S|NCOA3_ENST00000371998.3_Silent_p.S441S|NCOA3_ENST00000341724.6_Silent_p.S451S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	441					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATAGCTTCATTGACCCCTG	0.562000													15	199					0	0	0.479597	0	0
XYLT1	64131	broad.mit.edu	37	16	17292086	17292086	+	Silent	SNP	C	C	T	rs144531370		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:17292086C>T	ENST00000261381.6	-	5	1356	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	424					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGTCGGCCGCACTCAGGT	0.622000													14	40					0	0	0.457914	0	0
OR52K2	119774	broad.mit.edu	37	11	4470612	4470612	+	Silent	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:4470612T>C	ENST00000325719.4	+	1	88	c.43T>C	c.(43-45)Ttg>Ctg	p.L15L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTGCCTTCTTGTTGGTGGG	0.507000													9	60					0	0	0.335167	0	0
APC	324	broad.mit.edu	37	5	112170861	112170861	+	Splice_Site	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:112170861A>T	ENST00000457016.1	+	15	2337	c.1958_splice	c.e15+1	p.R653_splice	APC_ENST00000508376.2_Splice_Site_p.R653_splice|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Splice_Site_p.R653_splice			P25054	APC_HUMAN	adenomatous polyposis coli	653	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAGGACCACAGGTATATATA	0.333000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	17					0	0	0.150653	0	0
FAM91A1	157769	broad.mit.edu	37	8	124792255	124792255	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:124792255G>C	ENST00000334705.7	+	7	826	c.580G>C	c.(580-582)Gat>Cat	p.D194H	FAM91A1_ENST00000521166.1_Missense_Mutation_p.D194H	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	194										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATGCGCTGTTGATAAGATCAT	0.328000													5	43					0	0	0.184627	0	0
NOL12	79159	broad.mit.edu	37	22	38084913	38084913	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr22:38084913G>A	ENST00000359114.4	+	4	365	c.295G>A	c.(295-297)Gac>Aac	p.D99N	RP1-37E16.12_ENST00000455236.1_RNA|NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	99						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GGTGCAGTATGACCACCCCAA	0.632000													10	137					0	0	0.361761	0	0
DMD	1756	broad.mit.edu	37	X	31496492	31496492	+	Splice_Site	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:31496492C>T	ENST00000357033.4	-	59	8875		c.e59-1		DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000445312.1_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000541735.1_Splice_Site	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGAGGCAGCTCTAAATTGGCA	0.433000													10	68					0	0	0.361761	0	0
WNT7B	7477	broad.mit.edu	37	22	46345949	46345949	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr22:46345949G>A	ENST00000339464.4	-	2	523	c.149C>T	c.(148-150)gCc>gTc	p.A50V	WNT7B_ENST00000410058.1_Missense_Mutation_p.A50V|WNT7B_ENST00000409496.3_Missense_Mutation_p.A54V|WNT7B_ENST00000410089.1_Missense_Mutation_p.A34V	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	50					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGCAGATGGCACGCTGCCG	0.622000													5	33					0	0	0.184627	0	0
TBX15	6913	broad.mit.edu	37	1	119441710	119441710	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:119441710C>A	ENST00000369429.3	-	7	974	c.965G>T	c.(964-966)tGg>tTg	p.W322L	TBX15_ENST00000207157.3_Missense_Mutation_p.W216L			Q96SF7	TBX15_HUMAN	T-box 15	322						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGGAGGTCTCCAGAATGCATA	0.468000													13	18					0.00136819	0.00145371	0.411799	1	0
DNER	92737	broad.mit.edu	37	2	230456436	230456436	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:230456436C>G	ENST00000341772.4	-	2	579	c.445G>C	c.(445-447)Gca>Cca	p.A149P		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	149					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGTCGGGGTGCCATGGATTCG	0.572000													4	37					0	0	0.150653	0	0
ARX	170302	broad.mit.edu	37	X	25033786	25033786	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:25033786C>A	ENST00000379044.4	-	1	279	c.69G>T	c.(67-69)ttG>ttT	p.L23F		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	23						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						AGGAGGAGAGCAAAGTTGGAG	0.617000													3	14					0.115264	0.118041	0.115264	1	0
GPX5	2880	broad.mit.edu	37	6	28500162	28500162	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:28500162G>T	ENST00000412168.2	+	4	513	c.424G>T	c.(424-426)Ggt>Tgt	p.G142C	GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	142					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GGATGTGAATGGTGAAAAAGA	0.443000													5	44					0.00116845	0.00124928	0.217242	1	0
LRCH2	57631	broad.mit.edu	37	X	114357660	114357660	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:114357660T>C	ENST00000317135.8	-	18	1975	c.1945A>G	c.(1945-1947)Ata>Gta	p.I649V	LRCH2_ENST00000538422.1_Missense_Mutation_p.I632V	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	649	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGTTGTCGTATTTGCTCTCGC	0.408000													4	26					0	0	0.184627	0	0
CFAP54	144535	broad.mit.edu	37	12	97102464	97102464	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:97102464A>G	ENST00000524981.3	+	15	1960	c.1960A>G	c.(1960-1962)Aat>Gat	p.N654D				Q6ZTY8	CL063_HUMAN		628										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAATAAGTTTAATTTTGTTAA	0.323000													5	26					0	0	0.184627	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032338	142032338	+	RNA	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:142032338G>A	ENST00000547918.2	+	0	191																											GCCCTTTATTGGTACCGACAG	0.517000													9	18					0	0	0.361761	0	0
AIM1L	55057	broad.mit.edu	37	1	26648746	26648746	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:26648746G>A	ENST00000527815.1	-	18	2233	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	AIM1L_ENST00000308182.5_Silent_p.A557A	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	557							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGCGGCTCTCGGCCCACAGCA	0.627000													14	63					0	0	0.457914	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000													11	14					0	0	0.411799	0	0
OR52J3	119679	broad.mit.edu	37	11	5068178	5068178	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:5068178A>T	ENST00000380370.1	+	1	423	c.423A>T	c.(421-423)caA>caT	p.Q141H		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	141			Q -> L (in dbSNP:rs2500018).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATCCCAAGTGTTGGTGG	0.488000													9	40					0	0	0.335167	0	0
ULBP2	80328	broad.mit.edu	37	6	150267642	150267642	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:150267642C>T	ENST00000367351.3	+	3	557	c.484C>T	c.(484-486)Cat>Tat	p.H162Y		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	162	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GACAACGGTTCATCCTGGAGC	0.473000													18	92					0	0	0.539581	0	0
ZBTB49	166793	broad.mit.edu	37	4	4317644	4317644	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:4317644T>G	ENST00000337872.4	+	7	1689	c.1568T>G	c.(1567-1569)gTa>gGa	p.V523G	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Missense_Mutation_p.V6G	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGGAAGTTAGTAAAGCACAGA	0.478000													9	67					0	0	0.307466	0	0
MAPRE3	22924	broad.mit.edu	37	2	27248599	27248599	+	Silent	SNP	C	C	T	rs139273861	by1000genomes	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:27248599C>T	ENST00000233121.2	+	5	816	c.618C>T	c.(616-618)aaC>aaT	p.N206N	MAPRE3_ENST00000405074.3_Silent_p.N191N|MAPRE3_ENST00000402218.1_Silent_p.N191N			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	206	EB1 C-terminal.				cell division|mitosis|positive regulation of transcription, DNA-dependent	cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm	microtubule binding|protein binding|small GTPase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAACTCAACCAACAGGTGA	0.597000													4	54					0	0	0.184627	0	0
HYOU1	10525	broad.mit.edu	37	11	118925328	118925328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:118925328G>A	ENST00000404233.3	-	7	680	c.556C>T	c.(556-558)Cga>Tga	p.R186*	HYOU1_ENST00000525859.1_Nonsense_Mutation_p.R186*|HYOU1_ENST00000529972.1_Nonsense_Mutation_p.R186*|HYOU1_ENST00000543287.1_Nonsense_Mutation_p.R99*	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	186						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGCACAGCTCGGCGCTCGGCC	0.587000													6	47					0	0	0.217242	0	0
VWA2	340706	broad.mit.edu	37	10	116032545	116032545	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:116032545A>T	ENST00000603594.1	+	6	739	c.418A>T	c.(418-420)Aga>Tga	p.R140*	VWA2_ENST00000392982.3_Nonsense_Mutation_p.R140*	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	140	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTTCTGCACAGAGGGTTGCC	0.537000													18	70					0	0	0.539581	0	0
FAM204A	63877	broad.mit.edu	37	10	120095846	120095846	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:120095846A>G	ENST00000369183.4	-	3	341	c.82T>C	c.(82-84)Tct>Cct	p.S28P	FAM204A_ENST00000369172.4_Missense_Mutation_p.S28P|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	28										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTAAGTCCAGAGTTCTCCAAC	0.408000													6	60					0	0	0.217242	0	0
PDE2A	5138	broad.mit.edu	37	11	72292496	72292496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:72292496G>T	ENST00000334456.5	-	23	2195	c.1950C>A	c.(1948-1950)taC>taA	p.Y650*	PDE2A_ENST00000444035.2_Nonsense_Mutation_p.Y641*|PDE2A_ENST00000418754.2_Nonsense_Mutation_p.Y535*|PDE2A_ENST00000376450.3_Nonsense_Mutation_p.Y394*|PDE2A_ENST00000544570.1_Nonsense_Mutation_p.Y643*|PDE2A_ENST00000540345.1_Nonsense_Mutation_p.Y641*	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	650	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GGGGATCCCGGTAGCCCTTCT	0.572000													11	13					6.40141e-05	7.0209e-05	0.387290	1	0
CTNNB1	1499	broad.mit.edu	37	3	41266100	41266100	+	Missense_Mutation	SNP	T	T	A	rs121913416		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:41266100T>A	ENST00000349496.5	+	3	377	c.97T>A	c.(97-99)Tct>Act	p.S33T	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33T|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTACCTGGACTCTGGAATCCA	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	36					0	0	0.278610	0	0
PSMF1	9491	broad.mit.edu	37	20	1108107	1108107	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:1108107C>G	ENST00000335877.6	+	3	497	c.321C>G	c.(319-321)aaC>aaG	p.N107K	PSMF1_ENST00000438768.2_Missense_Mutation_p.N107K|PSMF1_ENST00000381898.4_Missense_Mutation_p.N19K|PSMF1_ENST00000246015.4_Missense_Mutation_p.N107K|PSMF1_ENST00000333082.3_Missense_Mutation_p.N107K	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	107					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TGACCCTGAACTTGGATGATT	0.448000													45	108					0	0	0.870114	0	0
MYO10	4651	broad.mit.edu	37	5	16674979	16674979	+	Silent	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:16674979G>C	ENST00000513610.1	-	35	5401	c.4947C>G	c.(4945-4947)ctC>ctG	p.L1649L	MYO10_ENST00000505695.1_Silent_p.L988L|MYO10_ENST00000427430.2_Silent_p.L1006L|MYO10_ENST00000274203.9_Silent_p.L1006L|MYO10_ENST00000515803.1_Silent_p.L988L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1649	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGGAACTTGAGATACTTGA	0.572000													9	157					0	0	0.335167	0	0
FOXO4	4303	broad.mit.edu	37	X	70320855	70320855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:70320855C>T	ENST00000374259.3	+	2	1107	c.775C>T	c.(775-777)Cga>Tga	p.R259*	FOXO4_ENST00000341558.3_Nonsense_Mutation_p.R204*	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	259					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTTCCGTCCACGAAGCAGTTC	0.582000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	0.248553	0	0
PSMA4	5685	broad.mit.edu	37	15	78836557	78836557	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr15:78836557A>T	ENST00000044462.7	+	5	385	c.235A>T	c.(235-237)Ata>Tta	p.I79L	PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Missense_Mutation_p.I79L|PSMA4_ENST00000559082.1_Missense_Mutation_p.I79L|PSMA4_ENST00000560217.1_Missense_Mutation_p.I48L|PSMA4_ENST00000558281.1_Missense_Mutation_p.I79L|PSMA4_ENST00000413382.2_Missense_Mutation_p.I8L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGTGGCAGGCATAACTTCTGA	0.358000													4	15					0	0	0.184627	0	0
CPQ	10404	broad.mit.edu	37	8	97978225	97978225	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:97978225C>T	ENST00000220763.5	+	5	1122	c.912C>T	c.(910-912)ggC>ggT	p.G304G		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	304					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGGATGATGGCGGTGGAGCCT	0.383000													5	49					0	0	0.278610	0	0
ITGA10	8515	broad.mit.edu	37	1	145530918	145530918	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:145530918G>T	ENST00000369304.3	+	7	825	c.650G>T	c.(649-651)tGg>tTg	p.W217L	ITGA10_ENST00000539363.1_Missense_Mutation_p.W74L|ITGA10_ENST00000538811.1_Missense_Mutation_p.W86L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	217	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTACATGAGTGGTCCCTGGGA	0.512000													20	37					3.51602e-12	4.17988e-12	0.575678	1	0
VPS13D	55187	broad.mit.edu	37	1	12408994	12408994	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:12408994A>G	ENST00000358136.3	+	45	9314	c.9184A>G	c.(9184-9186)Atg>Gtg	p.M3062V	VPS13D_ENST00000356315.4_Missense_Mutation_p.M3037V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3061					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAGACACCAATGGAACTAAG	0.458000													10	55					0	0	0.361761	0	0
MCF2	4168	broad.mit.edu	37	X	138699760	138699760	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:138699760C>T	ENST00000520602.1	-	11	1376	c.1091G>A	c.(1090-1092)cGt>cAt	p.R364H	MCF2_ENST00000370578.4_Missense_Mutation_p.R449H|MCF2_ENST00000338585.6_Missense_Mutation_p.R304H|MCF2_ENST00000414978.1_Missense_Mutation_p.R364H|MCF2_ENST00000370573.4_Missense_Mutation_p.R304H|MCF2_ENST00000370576.4_Missense_Mutation_p.R304H|MCF2_ENST00000536274.1_Missense_Mutation_p.R265H|MCF2_ENST00000519895.1_Missense_Mutation_p.R364H			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	304					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGAAAGGTAACGTAGCTCATT	0.393000													73	117					0	0	0.870114	0	0
TCERG1L	256536	broad.mit.edu	37	10	133106605	133106605	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:133106605T>A	ENST00000368642.4	-	3	624	c.539A>T	c.(538-540)gAg>gTg	p.E180V		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	180	WW 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCTTGACTCCTCAGGATGTAT	0.473000													8	38					0	0	0.278610	0	0
TAF4	6874	broad.mit.edu	37	20	60589671	60589671	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:60589671G>C	ENST00000252996.3	-	2	1452	c.1453C>G	c.(1453-1455)Cag>Gag	p.Q485E		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	485					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGGTGGTCTGAGGCTGGGCA	0.632000													8	63					0	0	0.278610	0	0
GON4L	54856	broad.mit.edu	37	1	155753800	155753800	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:155753800G>A	ENST00000437809.1	-	14	1991	c.1869C>T	c.(1867-1869)aaC>aaT	p.N623N	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.N623N|GON4L_ENST00000271883.5_Silent_p.N623N|GON4L_ENST00000361040.5_Silent_p.N623N			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	623					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGTGTTAAAGTTAGGACGAG	0.448000													4	100					0	0	0.150653	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035185	52035185	+	RNA	SNP	T	T	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr13:52035185T>G	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000600477.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA																							TTCATCAAATTCGACACTGGT	0.458000													4	22					0	0	0.150653	0	0
FAM47A	158724	broad.mit.edu	37	X	34149740	34149740	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:34149740G>A	ENST00000346193.3	-	1	707	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	219	Pro-rich.							p.P219L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACCGGAGTCTTGGG	0.657000													17	82					0	0	0.575678	0	0
ARMC6	93436	broad.mit.edu	37	19	19153544	19153544	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:19153544G>A	ENST00000535612.1	+	3	486	c.54G>A	c.(52-54)acG>acA	p.T18T	ARMC6_ENST00000392336.3_Silent_p.T18T|ARMC6_ENST00000392335.2_5'UTR|ARMC6_ENST00000269932.6_5'UTR|ARMC6_ENST00000546344.1_Intron	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	18							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TCGGCTGCACGCCAACATCAA	0.577000													3	44					0	0	0.150653	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149215969	149215969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:149215969G>T	ENST00000309241.5	+	8	1983	c.1951G>T	c.(1951-1953)Gcc>Tcc	p.A651S	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A587S|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.A651S|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A612S	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	651					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCCAGGGGCTGCCCACAAGCT	0.612000													9	112					2.17888e-05	2.40525e-05	0.335167	1	0
PNPLA4	8228	broad.mit.edu	37	X	7870079	7870079	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:7870079T>A	ENST00000381042.4	-	6	751	c.581A>T	c.(580-582)gAc>gTc	p.D194V	PNPLA4_ENST00000537427.1_Missense_Mutation_p.D107V|PNPLA4_ENST00000444736.1_Missense_Mutation_p.D194V	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	194					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				CTGCCCTTTGTCCTGCGGGGA	0.498000													19	57					0	0	0.592651	0	0
IL15RA	3601	broad.mit.edu	37	10	5998369	5998369	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:5998369G>C	ENST00000525219.2	-	6	851	c.557C>G	c.(556-558)tCt>tGt	p.S186C	IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379971.1_Missense_Mutation_p.S124C|IL15RA_ENST00000530685.1_Missense_Mutation_p.S189C|IL15RA_ENST00000379977.3_Missense_Mutation_p.S222C|IL15RA_ENST00000397251.3_Missense_Mutation_p.S157C|IL15RA_ENST00000397250.2_Missense_Mutation_p.S124C|IL15RA_ENST00000397248.2_Missense_Mutation_p.S186C|IL15RA_ENST00000397255.3_Missense_Mutation_p.S222C|IL15RA_ENST00000528354.1_Missense_Mutation_p.S189C	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	222					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGCCAGGAGAGACACAGCGCT	0.557000													3	30					0	0	0.115264	0	0
KCNA3	3738	broad.mit.edu	37	1	111216654	111216654	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:111216654G>A	ENST00000369769.2	-	1	1001	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	260						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTCGTCGCGGAACTCCGGC	0.667000													4	57					0	0	0.150653	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921404	178921404	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:178921404C>G	ENST00000263967.3	+	5	1043	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	296					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTTTATTCTCAACTGCCAAT	0.403000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	45					0	0	0.217242	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428871	190428871	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:190428871C>G	ENST00000261024.2	-	7	1267	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	281					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAAGTAGGCTCTTGCTCATGT	0.498000													9	48					0	0	0.307466	0	0
NDUFB9	4715	broad.mit.edu	37	8	125559309	125559309	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:125559309G>A	ENST00000522532.1	+	3	410	c.363G>A	c.(361-363)aaG>aaA	p.K121K	NDUFB9_ENST00000517367.1_Silent_p.K110K|NDUFB9_ENST00000276689.3_Silent_p.K121K|NDUFB9_ENST00000518008.1_Silent_p.K121K			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	121					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	ACTTTGCCAAGAGAGAACAGT	0.453000													13	463					0	0	0.435327	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230154	137230154	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:137230154G>A	ENST00000508638.1	+	4	435	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PKD2L2_ENST00000508883.1_Missense_Mutation_p.G127E|PKD2L2_ENST00000502810.1_Missense_Mutation_p.G127E|PKD2L2_ENST00000290431.5_Missense_Mutation_p.G127E|PKD2L2_ENST00000350250.4_Missense_Mutation_p.G93E	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	127						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATACTTCTAGGAGTTCCCAGA	0.383000													8	33					0	0	0.278610	0	0
FGG	2266	broad.mit.edu	37	4	155530817	155530817	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:155530817C>T	ENST00000404648.3	-	6	870	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGG_ENST00000336098.3_Missense_Mutation_p.D211N|FGG_ENST00000405164.1_Missense_Mutation_p.D219N|FGG_ENST00000407946.1_Missense_Mutation_p.D219N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	211	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CCAGACCCATCGATTTCACAG	0.388000													5	54					0	0	0.184627	0	0
DAGLA	747	broad.mit.edu	37	11	61508674	61508674	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:61508674C>T	ENST00000257215.5	+	19	2140	c.2024C>T	c.(2023-2025)tCt>tTt	p.S675F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	675					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCTCTGCTCTCTGCAGCCAAG	0.647000													5	74					0	0	0.217242	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323326	135323326	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:135323326G>T	ENST00000316077.9	-	5	748	c.528C>A	c.(526-528)agC>agA	p.S176R	MAP7D3_ENST00000370663.5_Missense_Mutation_p.S158R|MAP7D3_ENST00000370661.1_Missense_Mutation_p.S176R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	176						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TACCAGTTTTGCTCTCAGAAT	0.368000													4	32					0.00909568	0.00948629	0.150653	1	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204575	103204575	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr9:103204575C>T	ENST00000502978.1	+	1	23	c.23C>T	c.(22-24)gCt>gTt	p.A8V	MSANTD3_ENST00000395067.2_Missense_Mutation_p.L119F|TMEFF1_ENST00000334943.6_Missense_Mutation_p.L6F|MSANTD3_ENST00000374885.1_Missense_Mutation_p.L119F|MSANTD3_ENST00000489377.1_3'UTR	NM_001198812.1	NP_001185741.1	Q8IYR6	TEFF1_HUMAN		9					multicellular organismal development	integral to membrane|plasma membrane											GCCGGAGCAGCTCTACTTCCT	0.612000													6	51					0	0	0.217242	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415759	25415759	+	RNA	SNP	G	G	A	rs2714734	by1000genomes	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr15:25415759G>A	ENST00000549301.1	+	0	273				SNHG14_ENST00000553149.1_RNA																							GCCAGCCCCCGGTGCGCTGAA	0.652000													4	49					0	0	0.150653	0	0
RELN	5649	broad.mit.edu	37	7	103155858	103155858	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:103155858A>G	ENST00000428762.1	-	50	8052	c.7893T>C	c.(7891-7893)gcT>gcC	p.A2631A	RELN_ENST00000343529.5_Silent_p.A2631A|RELN_ENST00000424685.2_Silent_p.A2631A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2631					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATCTCTTTAGCATCAGGAG	0.483000													3	41					0	0	0.184627	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49379184	49379184	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:49379184C>T	ENST00000200453.5	+	3	2248	c.1979C>T	c.(1978-1980)tCt>tTt	p.S660F		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	660					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCCCGCTCGTCTGCTGCTGCA	0.562000													14	158					0	0	0.435327	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	rs121913416		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:41266101C>A	ENST00000349496.5	+	3	378	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				8	35					5.18039e-06	5.75599e-06	0.278610	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64721936	64721936	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:64721936T>C	ENST00000338957.4	+	5	1425	c.1358T>C	c.(1357-1359)aTt>aCt	p.I453T	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.I442T	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	442							endonuclease activity|nucleic acid binding|zinc ion binding	p.I303T(1)|p.I389T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCTGTCCATTGCCCGTAAG	0.567000													8	70					0	0	0.307466	0	0
ASAP1	50807	broad.mit.edu	37	8	131226829	131226829	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:131226829C>T	ENST00000357668.1	-	4	405	c.378G>A	c.(376-378)aaG>aaA	p.K126K	ASAP1_ENST00000518721.1_Silent_p.K126K			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	126					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGGACAGTTCCTTTGTAAGAG	0.363000													16	198					0	0	0.539581	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675164	1675164	+	Splice_Site	SNP	A	A	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:1675164A>C	ENST00000254722.4	+	5	602		c.e5-1		SERPINF1_ENST00000571870.1_Splice_Site	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1						cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCCTCTTCTCAGAGCTGCGCA	0.572000													5	28					0	0	0.184627	0	0
WSCD1	23302	broad.mit.edu	37	17	5991404	5991404	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:5991404C>T	ENST00000574946.1	+	3	912	c.522C>T	c.(520-522)tgC>tgT	p.C174C	WSCD1_ENST00000574232.1_Silent_p.C174C|WSCD1_ENST00000317744.5_Silent_p.C174C|WSCD1_ENST00000573634.1_Silent_p.C58C|WSCD1_ENST00000539421.1_Silent_p.C174C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	174	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TCTCCCACTGCCAGGATGCGT	0.542000													7	64					0	0	0.248553	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254547	30254547	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:30254547A>T	ENST00000361644.2	+	5	1243	c.506A>T	c.(505-507)aAg>aTg	p.K169M	MAGEB3_ENST00000378986.1_Missense_Mutation_p.K169M	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	169	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GTTGATTTAAAGAAAGTTGAT	0.413000													5	68					0	0	0.184627	0	0
SDK1	221935	broad.mit.edu	37	7	4167093	4167093	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:4167093G>A	ENST00000404826.2	+	26	4043	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1302	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCCGTGCCGGAACAGGACCA	0.537000													11	80					0	0	0.387290	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334619	142334619	+	RNA	SNP	T	T	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:142334619T>G	ENST00000390394.3	+	0	119																											GGCTCCGGGCTTGGTGCTGTC	0.582000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	63					0	0	0.796494	0	0
OR4C16	219428	broad.mit.edu	37	11	55339872	55339872	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:55339872T>A	ENST00000314634.3	+	1	269	c.269T>A	c.(268-270)aTc>aAc	p.I90N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AAGACAACTATCTCCTTCAGC	0.448000													71	108					0	0	0.870114	0	0
STOML3	161003	broad.mit.edu	37	13	39544447	39544447	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr13:39544447C>T	ENST00000379631.4	-	5	735	c.391G>A	c.(391-393)Gct>Act	p.A131T	STOML3_ENST00000423210.1_Missense_Mutation_p.A122T	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	131						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTGACATTAGCCACTGCTGAG	0.468000													26	82					0	0	0.681144	0	0
SLC9A5	6553	broad.mit.edu	37	16	67290871	67290871	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:67290871T>C	ENST00000299798.11	+	7	1255	c.1190T>C	c.(1189-1191)aTt>aCt	p.I397T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	397					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTGGACAAGATTGACCAAGTG	0.592000													10	96					0	0	0.411799	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688891	65688891	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:65688891C>T	ENST00000335257.6	+	9	1233	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.R296W			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	296					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGATCGGCCCCGGAAAAAGTC	0.562000													12	89					0	0	0.411799	0	0
OTOF	9381	broad.mit.edu	37	2	26705336	26705336	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:26705336T>C	ENST00000272371.2	-	14	1643	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	OTOF_ENST00000403946.3_Missense_Mutation_p.N506S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	506	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCACGTCGTTGACCTTGTC	0.577000													19	82					0	0	0.539581	0	0
CCDC69	26112	broad.mit.edu	37	5	150565642	150565642	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:150565642G>T	ENST00000355417.2	-	6	611	c.437C>A	c.(436-438)gCc>gAc	p.A146D	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	146										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCATTTTGGCCTGGAAAGC	0.522000													11	176					4.68919e-08	5.46001e-08	0.361761	1	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:140481411C>G	ENST00000288602.6	-	11	1457	c.1397G>C	c.(1396-1398)gGa>gCa	p.G466A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				19	44					0	0	0.557998	0	0
HSPA2	3306	broad.mit.edu	37	14	65008152	65008152	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr14:65008152G>A	ENST00000247207.6	+	1	967	c.585G>A	c.(583-585)gaG>gaA	p.E195E	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.E195E	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	195					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGGCGGCGAGAAGAACGTGC	0.637000													11	121					0	0	0.411799	0	0
HOXA11	3207	broad.mit.edu	37	7	27224464	27224464	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:27224464G>A	ENST00000006015.3	-	1	371	c.300C>T	c.(298-300)gcC>gcT	p.A100A	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	100					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGGCACGCCGGCCGCGCTGG	0.672000			T	NUP98	CML								8	57					0	0	0.278610	0	0
MROH6	642475	broad.mit.edu	37	8	144654722	144654722	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:144654722C>G	ENST00000398882.3	-	1	419	c.163G>C	c.(163-165)Gag>Cag	p.E55Q		NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6																		GTCTGTGGCTCAGCCTCAGGT	0.682000													5	54					0	0	0.184627	0	0
RGPD3	653489	broad.mit.edu	37	2	107041237	107041237	+	Silent	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:107041237T>A	ENST00000409886.3	-	20	3273	c.3186A>T	c.(3184-3186)tcA>tcT	p.S1062S	RGPD3_ENST00000304514.7_Silent_p.S1062S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1062	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTACCCCCTGTGAATACAGAA	0.398000													59	362					0	0	0.870114	0	0
ADAL	161823	broad.mit.edu	37	15	43627963	43627963	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr15:43627963G>T	ENST00000422466.2	+	5	707	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	ADAL_ENST00000562188.1_Missense_Mutation_p.D45Y|ADAL_ENST00000428046.3_Missense_Mutation_p.D45Y|ADAL_ENST00000389651.4_Missense_Mutation_p.D45Y			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	45					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		CCAGAAGCCAGATCTTAAAAT	0.383000													7	31					0.00198382	0.00208178	0.248553	1	0
FMR1	2332	broad.mit.edu	37	X	147018985	147018985	+	Splice_Site	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:147018985G>C	ENST00000218200.8	+	11	1220	c.990_splice	c.e11-1	p.E331_splice	FMR1_ENST00000370470.1_Splice_Site_p.E331_splice|FMR1_ENST00000439526.2_Splice_Site_p.E329_splice|FMR1_ENST00000370471.3_Splice_Site_p.E331_splice|FMR1_ENST00000370477.1_Splice_Site_p.E331_splice|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370475.4_Splice_Site_p.E331_splice	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	331					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.E331K(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTACCAAGGAAATTATGCC	0.308000									Fragile X syndrome				4	66					0	0	0.150653	0	0
AFF1	4299	broad.mit.edu	37	4	88035789	88035789	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:88035789C>T	ENST00000307808.6	+	11	2203	c.1783C>T	c.(1783-1785)Cca>Tca	p.P595S	AFF1_ENST00000544085.1_Missense_Mutation_p.P233S|AFF1_ENST00000395146.4_Missense_Mutation_p.P602S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	595						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAGGAGCCCCCACAAAGGCA	0.637000													3	27					0	0	0.115264	0	0
MYOC	4653	broad.mit.edu	37	1	171621223	171621223	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:171621223C>A	ENST00000037502.5	-	1	588	c.529G>T	c.(529-531)Gta>Tta	p.V177L		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	177					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCCTTGCTACCTCCTGGCTG	0.572000													14	355					1.05317e-09	1.24333e-09	0.457914	1	0
PABPC1	26986	broad.mit.edu	37	8	101733732	101733732	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:101733732A>G	ENST00000318607.5	-	1	1208	c.80T>C	c.(79-81)cTc>cCc	p.L27P	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Missense_Mutation_p.L27P	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	27	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCGTAGAGCATCGCCTC	0.667000													4	44					0	0	0.150653	0	0
SPATA20	64847	broad.mit.edu	37	17	48627386	48627386	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:48627386A>G	ENST00000006658.6	+	8	1023	c.903A>G	c.(901-903)cgA>cgG	p.R301R	SPATA20_ENST00000356488.4_Silent_p.R285R|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.R241R	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	285					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TCAGCCATCGACTGACTCAGG	0.592000													28	346					0	0	0.706142	0	0
KLHL1	57626	broad.mit.edu	37	13	70413107	70413107	+	Splice_Site	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr13:70413107C>G	ENST00000377844.4	-	6	2174		c.e6+1		KLHL1_ENST00000545028.1_Splice_Site	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1						actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAATTAAATACCTTTGTTGTT	0.343000													16	19					0	0	0.539581	0	0
KRBOX4	55634	broad.mit.edu	37	X	46322632	46322632	+	Splice_Site	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:46322632G>T	ENST00000344302.4	+	5	773		c.e5-1		KRBOX4_ENST00000360017.5_Splice_Site|KRBOX4_ENST00000377919.2_Splice_Site|KRBOX4_ENST00000298190.6_Splice_Site|KRBOX4_ENST00000478600.1_Splice_Site|KRBOX4_ENST00000487081.1_Splice_Site	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2			KRAB box domain containing 4																		CCCCCGAACAGGGTATCTAGT	0.557000													19	41					8.34094e-07	9.5165e-07	0.575678	1	0
ASH2L	9070	broad.mit.edu	37	8	37993278	37993278	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:37993278C>T	ENST00000343823.6	+	14	2022	c.1713C>T	c.(1711-1713)agC>agT	p.S571S	ASH2L_ENST00000428278.2_Silent_p.S477S|ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000545394.1_Silent_p.S432S|ASH2L_ENST00000521652.1_Intron	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	571	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TGTACAAGAGCTGCACGGTAC	0.408000													13	37					0	0	0.411799	0	0
SH3D21	79729	broad.mit.edu	37	1	36785751	36785751	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:36785751C>A	ENST00000453908.2	+	14	1515	c.1487C>A	c.(1486-1488)tCc>tAc	p.S496Y	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.S380Y|SH3D21_ENST00000312808.4_Missense_Mutation_p.S142Y|SH3D21_ENST00000505871.1_Missense_Mutation_p.S385Y	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	380										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GAAGAGGTGTCCACCAGAGAT	0.507000													4	61					0.150653	0.15336	0.150653	1	0
RGL2	5863	broad.mit.edu	37	6	33263525	33263525	+	Silent	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:33263525G>C	ENST00000497454.1	-	7	1275	c.780C>G	c.(778-780)ctC>ctG	p.L260L	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.L178L|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	260	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGATCAAATTGAGAAAAAGTT	0.532000													3	48					0	0	0.115264	0	0
LONP1	9361	broad.mit.edu	37	19	5700829	5700829	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:5700829C>T	ENST00000360614.3	-	9	1634	c.1477G>A	c.(1477-1479)Ggc>Agc	p.G493S	LONP1_ENST00000593119.1_Missense_Mutation_p.G429S|LONP1_ENST00000540670.2_Missense_Mutation_p.G297S|LONP1_ENST00000585374.1_Missense_Mutation_p.G379S|LONP1_ENST00000590729.1_Missense_Mutation_p.G363S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	493					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCTCCATGCCGTAGTGGTCT	0.602000													4	64					0	0	0.150653	0	0
ITGA8	8516	broad.mit.edu	37	10	15760899	15760899	+	Splice_Site	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:15760899C>G	ENST00000378076.3	-	2	563		c.e2-1			NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACACTCGCTCTGCAAAAGAG	0.607000													5	67					0	0	0.184627	0	0
ZNF268	10795	broad.mit.edu	37	12	133779003	133779003	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:133779003T>C	ENST00000536435.2	+	6	1061	c.731T>C	c.(730-732)aTt>aCt	p.I244T	ZNF268_ENST00000537565.1_Missense_Mutation_p.I83T|ZNF268_ENST00000228289.5_Missense_Mutation_p.I244T|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000539248.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542711.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	244						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAAACTGTTATTGGAATAAAA	0.323000													5	8					0	0	0.184627	0	0
FAM135B	51059	broad.mit.edu	37	8	139163899	139163899	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:139163899G>A	ENST00000395297.1	-	13	2989	c.2819C>T	c.(2818-2820)aCg>aTg	p.T940M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	940								p.T940M(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCAGCTGACGTACAGCTCAA	0.478000										HNSCC(54;0.14)			19	308					0	0	0.557998	0	0
JRK	8629	broad.mit.edu	37	8	143740275	143740275	+	RNA	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:143740275C>G	ENST00000507178.2	-	0	7535									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				CATTATGTCTCTGTAGAGGCC	0.532000													4	90					0	0	0.150653	0	0
FOXN4	121643	broad.mit.edu	37	12	109719362	109719362	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:109719362G>T	ENST00000299162.5	-	9	1248	c.1144C>A	c.(1144-1146)Ccg>Acg	p.P382T	FOXN4_ENST00000355216.1_Missense_Mutation_p.P202T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	382					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TGCAGTGGCGGGGTCTGGGCT	0.657000													7	14					0.00198382	0.00208178	0.248553	1	0
NBPF14	25832	broad.mit.edu	37	1	148009459	148009459	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:148009459A>G	ENST00000369219.1	-	16	1864	c.1848T>C	c.(1846-1848)gaT>gaC	p.D616D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	616	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AATAGCATCTATCCAGTGACT	0.483000													14	179					0	0	0.457914	0	0
SPINT2	10653	broad.mit.edu	37	19	38774333	38774333	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:38774333T>C	ENST00000301244.7	+	2	608	c.173T>C	c.(172-174)gTc>gCc	p.V58A	SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.V8A	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	58	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGTACAATGTCACTGACGGA	0.552000													6	111					0	0	0.248553	0	0
CCSER1	401145	broad.mit.edu	37	4	91230645	91230645	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:91230645G>A	ENST00000509176.1	+	2	1498	c.1210G>A	c.(1210-1212)Gcg>Acg	p.A404T	CCSER1_ENST00000432775.2_Missense_Mutation_p.A404T|CCSER1_ENST00000333691.8_Missense_Mutation_p.A404T	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TAAAGCAATAGCGGAACATGT	0.353000													21	61					0	0	0.639603	0	0
ARSD	414	broad.mit.edu	37	X	2835948	2835948	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:2835948A>T	ENST00000381154.1	-	5	835	c.760T>A	c.(760-762)Tgg>Agg	p.W254R	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	254						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATACAGTTCCAGCGTCGCACA	0.522000													5	25					0	0	0.217242	0	0
NDUFB2	4708	broad.mit.edu	37	7	140396598	140396598	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:140396598C>T	ENST00000476279.1	+	1	128	c.54C>T	c.(52-54)ttC>ttT	p.F18F	NDUFB2_ENST00000465506.1_Silent_p.F18F|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000247866.4_Silent_p.F18F|NDUFB2_ENST00000204307.5_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000461457.1_Silent_p.F18F|NDUFB2-AS1_ENST00000465466.1_RNA			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	18					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	GCCGCCTTTTCAGAAGCGGCT	0.706000													4	16					0	0	0.184627	0	0
FERMT2	10979	broad.mit.edu	37	14	53325101	53325101	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr14:53325101C>A	ENST00000395631.2	-	15	2253	c.2037G>T	c.(2035-2037)tgG>tgT	p.W679C	FERMT2_ENST00000341590.3_Missense_Mutation_p.W679C|FERMT2_ENST00000553373.1_Missense_Mutation_p.W686C|FERMT2_ENST00000343279.4_Missense_Mutation_p.W686C|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	679					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTATTCACACCCAACCACTGG	0.343000													4	47					0.000602214	0.000652079	0.184627	1	0
DRD3	1814	broad.mit.edu	37	3	113850231	113850231	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:113850231G>A	ENST00000383673.2	-	6	1170	c.740C>T	c.(739-741)cCg>cTg	p.P247L	DRD3_ENST00000295881.7_Missense_Mutation_p.P247L|DRD3_ENST00000467632.1_Missense_Mutation_p.P247L|DRD3_ENST00000460779.1_Missense_Mutation_p.P247L	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	247					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CAGATGTGCCGGGTCAGGAGA	0.507000													4	74					0	0	0.184627	0	0
RP1L1	94137	broad.mit.edu	37	8	10466111	10466111	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:10466111C>T	ENST00000382483.3	-	4	5720	c.5497G>A	c.(5497-5499)Gaa>Aaa	p.E1833K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1833					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTATGCCTTCGGCCCCATCA	0.627000													14	194					0	0	0.500413	0	0
KEAP1	9817	broad.mit.edu	37	19	10610361	10610361	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:10610361C>T	ENST00000171111.5	-	2	896	c.349G>A	c.(349-351)Gag>Aag	p.E117K	KEAP1_ENST00000393623.2_Missense_Mutation_p.E117K	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	117	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			ATGCCCTGCTCCCGCAGCCCG	0.607000													8	34					0	0	0.278610	0	0
GANAB	23193	broad.mit.edu	37	11	62393613	62393613	+	Silent	SNP	A	A	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:62393613A>G	ENST00000346178.4	-	24	2730	c.2715T>C	c.(2713-2715)ttT>ttC	p.F905F	GANAB_ENST00000540933.1_Silent_p.F786F|GANAB_ENST00000356638.3_Silent_p.F883F|GANAB_ENST00000534779.1_Silent_p.F791F	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	883					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TTGGTGTCTCAAAGTGTCCTT	0.512000													15	215					0	0	0.479597	0	0
XYLT1	64131	broad.mit.edu	37	16	17221526	17221526	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:17221526G>A	ENST00000261381.6	-	10	2304	c.2220C>T	c.(2218-2220)tcC>tcT	p.S740S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	740					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTTACCTCGGAAAACTGAA	0.488000													15	142					0	0	0.500413	0	0
CYTH4	27128	broad.mit.edu	37	22	37692042	37692042	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr22:37692042G>A	ENST00000248901.6	+	4	357	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYTH4_ENST00000402997.1_Missense_Mutation_p.R57Q|CYTH4_ENST00000405206.3_Missense_Mutation_p.R57Q|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	57	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GTCCACAGCCGGATGGCCCAG	0.627000													3	18					0	0	0.115264	0	0
EIF3D	8664	broad.mit.edu	37	22	36915565	36915565	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr22:36915565C>T	ENST00000216190.8	-	8	968	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	EIF3D_ENST00000405442.1_Missense_Mutation_p.E200K|EIF3D_ENST00000541106.1_Missense_Mutation_p.E151K	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	200						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCGTAGTATTCTAGGGCCCCA	0.507000													12	73					0	0	0.411799	0	0
FGG	2266	broad.mit.edu	37	4	155530801	155530801	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:155530801C>A	ENST00000404648.3	-	6	886	c.647G>T	c.(646-648)gGa>gTa	p.G216V	FGG_ENST00000336098.3_Missense_Mutation_p.G216V|FGG_ENST00000405164.1_Missense_Mutation_p.G224V|FGG_ENST00000407946.1_Missense_Mutation_p.G224V	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	216	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CACAGTCCATCCATTTCCAGA	0.393000													5	55					0.00116845	0.00124928	0.217242	1	0
KIAA1462	57608	broad.mit.edu	37	10	30315685	30315685	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:30315685C>T	ENST00000375377.1	-	3	3493	c.3392G>A	c.(3391-3393)cGc>cAc	p.R1131H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1131										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CGGTGCTGGGCGAGATAGCAA	0.632000													10	95					0	0	0.361761	0	0
TLE1	7088	broad.mit.edu	37	9	84267154	84267154	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr9:84267154A>T	ENST00000376499.3	-	6	1411	c.347T>A	c.(346-348)aTg>aAg	p.M116K	TLE1_ENST00000376463.1_Missense_Mutation_p.M60K|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	116	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CAATTCTGCCATGGTCACCTG	0.453000													43	99					0	0	0.870114	0	0
VAT1	10493	broad.mit.edu	37	17	41170197	41170197	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:41170197G>A	ENST00000355653.3	-	3	717	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	VAT1_ENST00000420567.3_Silent_p.L74L|VAT1_ENST00000587173.1_Silent_p.L140L	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	208				QL -> HV (in Ref. 7; AAA95990).		cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTACGGCACAGCTGCACGGCA	0.587000													10	80					0	0	0.361761	0	0
SP2	6668	broad.mit.edu	37	17	45994184	45994184	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:45994184G>A	ENST00000376741.4	+	3	884	c.747G>A	c.(745-747)aaG>aaA	p.K249K	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	249					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAGCAAGGAAGAAGAGCCTTC	0.582000													12	133					0	0	0.411799	0	0
CHD7	55636	broad.mit.edu	37	8	61748804	61748804	+	Silent	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:61748804C>T	ENST00000423902.2	+	16	4430	c.3951C>T	c.(3949-3951)cgC>cgT	p.R1317R	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1317	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGATGGTGCGCTGCTTGGACA	0.478000													9	147					0	0	0.335167	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													6	95					0	0	0.217242	0	0
EXD1	161829	broad.mit.edu	37	15	41476627	41476627	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr15:41476627C>G	ENST00000314992.5	-	10	1237	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	EXD1_ENST00000458580.2_Missense_Mutation_p.E407D	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	349					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTTTGACTTTCTCCTCTTTCC	0.398000													12	83					0	0	0.411799	0	0
SAMD10	140700	broad.mit.edu	37	20	62608328	62608328	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:62608328G>A	ENST00000369886.3	-	3	615	c.441C>T	c.(439-441)atC>atT	p.I147I	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	147	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGTACCGGTGATGGCATGCT	0.592000													40	112					0	0	0.819951	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423463	33423463	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:33423463G>C	ENST00000395064.2	+	2	854	c.586G>C	c.(586-588)Gtg>Ctg	p.V196L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGAGAGCCCTGTGGGAGGGGA	0.547000													8	81					0	0	0.278610	0	0
SLC39A8	64116	broad.mit.edu	37	4	103226270	103226270	+	Splice_Site	SNP	T	T	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr4:103226270T>A	ENST00000424970.2	-	5	868		c.e5-2		SLC39A8_ENST00000394833.2_Splice_Site|SLC39A8_ENST00000356736.4_Splice_Site|SLC39A8_ENST00000510255.1_Splice_Site	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8							integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCCAAATGCCTAAGGGAGAAA	0.353000													3	20					0	0	0.115264	0	0
FSTL4	23105	broad.mit.edu	37	5	132648445	132648445	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr5:132648445C>G	ENST00000265342.7	-	6	877	c.628G>C	c.(628-630)Gat>Cat	p.D210H		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	210						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTCTTCATCCAGGTCCTGC	0.512000													4	41					0	0	0.150653	0	0
PNPLA6	10908	broad.mit.edu	37	19	7614968	7614968	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:7614968T>G	ENST00000221249.6	+	17	2098	c.1667T>G	c.(1666-1668)tTc>tGc	p.F556C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.F530C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F595C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F604C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F556C|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	595					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GACTGCACCTTCCTGCGGATC	0.627000													7	79					0	0	0.278610	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68260457	68260457	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr14:68260457C>T	ENST00000347230.4	-	14	2559	c.2421G>A	c.(2419-2421)atG>atA	p.M807I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.M807I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	807					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCGGCCAGACATGGCACTCA	0.522000													4	45					0	0	0.150653	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856112	12856112	+	Silent	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:12856112G>A	ENST00000332296.7	+	4	1495	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	PRAMEF1_ENST00000400814.3_Silent_p.P219P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	464										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCATCACCGTCTGAGGAAC	0.557000													12	128					0	0	0.457914	0	0
AEBP1	165	broad.mit.edu	37	7	44152266	44152266	+	Missense_Mutation	SNP	C	C	T	rs144799697	byFrequency	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr7:44152266C>T	ENST00000223357.3	+	18	2632	c.2327C>T	c.(2326-2328)gCc>gTc	p.A776V	AEBP1_ENST00000450684.2_Missense_Mutation_p.A351V	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	776	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A776V(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TACGATATGGCCCGCACGCCT	0.652000													4	38					0	0	0.150653	0	0
MDC1	9656	broad.mit.edu	37	6	30675945	30675945	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:30675945C>A	ENST00000376406.3	-	8	3058	c.2411G>T	c.(2410-2412)gGc>gTc	p.G804V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	804				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTCCCTCTGCCTTGAATCCC	0.532000								Other conserved DNA damage response genes					38	111					1.30998e-17	1.56829e-17	0.812448	1	0
DDX27	55661	broad.mit.edu	37	20	47836000	47836000	+	Silent	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:47836000C>G	ENST00000371764.4	+	1	117	c.108C>G	c.(106-108)ctC>ctG	p.L36L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	36						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)			TTGCGGACCTCGGCTTAATCG	0.602000													3	37					0	0	0.115264	0	0
RAB35	11021	broad.mit.edu	37	12	120536884	120536884	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:120536884C>T	ENST00000229340.5	-	4	490	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.R101Q|RAB35_ENST00000432953.2_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	101					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GTGAAGCCACCGCTTGACGTT	0.587000													8	60					0	0	0.278610	0	0
KIF2B	84643	broad.mit.edu	37	17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:51900728G>A	ENST00000268919.4	+	1	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	112			A -> V (in dbSNP:rs3803824).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602000													9	147					0	0	0.307466	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107444	133107444	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:133107444C>A	ENST00000368642.4	-	2	546	c.461G>T	c.(460-462)tGg>tTg	p.W154L		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	154	WW 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTTGTCTATCCAACTTTTCCC	0.463000													5	46					0.014758	0.0152052	0.184627	1	0
KIFAP3	22920	broad.mit.edu	37	1	169923240	169923240	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:169923240C>T	ENST00000367765.1	-	19	3566	c.2065G>A	c.(2065-2067)Gcc>Acc	p.A689T	KIFAP3_ENST00000540905.1_Missense_Mutation_p.A431T|KIFAP3_ENST00000361580.2_Missense_Mutation_p.A729T|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A685T|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A651T	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	729					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTTCAGAGGCAATTAATCCA	0.348000													52	65					0	0	0.870114	0	0
ADAM33	80332	broad.mit.edu	37	20	3652284	3652284	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:3652284G>T	ENST00000356518.2	-	16	2090	c.1849C>A	c.(1849-1851)Ctg>Atg	p.L617M	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.L617M|ADAM33_ENST00000379861.4_Missense_Mutation_p.L617M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	617	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						AGCAGGTCCAGCTGGGCACTG	0.637000													4	6					2.56e-06	2.90133e-06	0.150653	1	0
TAPBP	6892	broad.mit.edu	37	6	33272909	33272909	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:33272909T>C	ENST00000434618.2	-	4	1070	c.725A>G	c.(724-726)gAt>gGt	p.D242G	TAPBP_ENST00000456592.2_Missense_Mutation_p.D242G|TAPBP_ENST00000426633.2_Missense_Mutation_p.D242G|TAPBP_ENST00000475304.1_Missense_Mutation_p.D260G|TAPBP_ENST00000489157.1_Missense_Mutation_p.D155G	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	242					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CTCATCATCATCCCAAGCAGC	0.592000													32	43					0	0	0.760397	0	0
NXF4	55999	broad.mit.edu	37	X	101805063	101805063	+	RNA	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:101805063C>A	ENST00000360035.2	+	0	171					NR_002216.1															endometrium(2)|lung(8)	10						GGAGCTCTTCCCTTTCAGAAA	0.547000													10	148					3.07112e-06	3.45755e-06	0.387290	1	0
CFAP221	200373	broad.mit.edu	37	2	120388402	120388402	+	Silent	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:120388402C>A	ENST00000602047.1	+	20	2153	c.1041C>A	c.(1039-1041)ggC>ggA	p.G347G	PCDP1_ENST00000413369.3_Silent_p.G633G			Q4G0U5	PCDP1_HUMAN		633						cilium	calmodulin binding					Colorectal(110;0.196)					AGCTCTCTGGCAAAACATCAG	0.473000													12	73					2.27111e-07	2.60871e-07	0.411799	1	0
CSNK1A1P1	161635	broad.mit.edu	37	15	37110022	37110022	+	RNA	SNP	G	G	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr15:37110022G>T	ENST00000430593.3	-	0	638					NR_027320.1																						TTTTCATTGTGAACCTTCTTG	0.393000													5	24					0.014758	0.0152052	0.184627	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115534042	115534042	+	Silent	SNP	A	A	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:115534042A>C	ENST00000361048.1	+	9	1056	c.729A>C	c.(727-729)ccA>ccC	p.P243P	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P155P|PLEKHS1_ENST00000369310.3_Silent_p.P237P|PLEKHS1_ENST00000369309.1_Silent_p.P57P	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CTGATGGTCCAGACCAGGTCT	0.383000													4	38					0	0	0.150653	0	0
NLE1	54475	broad.mit.edu	37	17	33467047	33467047	+	Silent	SNP	A	A	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr17:33467047A>C	ENST00000442241.4	-	3	240	c.201T>G	c.(199-201)gcT>gcG	p.A67A	NLE1_ENST00000360831.5_Silent_p.A67A|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	67						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				AGACGATCTCAGCATCGTGGA	0.552000													10	27					0	0	0.335167	0	0
PLCG2	5336	broad.mit.edu	37	16	81960739	81960739	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:81960739G>A	ENST00000359376.3	+	23	2684	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	824	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.V824I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATCCAACTACGTCGAGGACAT	0.522000													8	148					0	0	0.307466	0	0
PARD3B	117583	broad.mit.edu	37	2	206166352	206166352	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr2:206166352G>A	ENST00000406610.2	+	18	2764	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	PARD3B_ENST00000349953.3_Missense_Mutation_p.E853K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E791K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E853K|PARD3B_ENST00000351153.1_Missense_Mutation_p.E784K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	853	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction		p.E791K(1)|p.E792K(1)|p.E784K(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		gaaagtcaaggagaaaaagcg	0.433000													6	30					0	0	0.217242	0	0
CUL9	23113	broad.mit.edu	37	6	43171224	43171224	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr6:43171224C>T	ENST00000252050.4	+	19	4003	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	CUL9_ENST00000354495.3_Missense_Mutation_p.R1197W|CUL9_ENST00000372647.2_Missense_Mutation_p.R1307W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1307	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCACTGTTCCGGGAGCAGCT	0.612000													35	61					0	0	0.796494	0	0
MYO3A	53904	broad.mit.edu	37	10	26462857	26462857	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr10:26462857G>C	ENST00000265944.5	+	30	3830	c.3664G>C	c.(3664-3666)Gaa>Caa	p.E1222Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1222					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAAGACCTGGAAGAGAACAG	0.413000													9	52					0	0	0.361761	0	0
FGD6	55785	broad.mit.edu	37	12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	rs149076340	byFrequency	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:95603382G>A	ENST00000343958.4	-	2	1901	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_ENST00000549499.1_Missense_Mutation_p.R560W|FGD6_ENST00000546711.1_Missense_Mutation_p.R560W	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	560					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423000													4	95					0	0	0.184627	0	0
OR51T1	401665	broad.mit.edu	37	11	4903745	4903745	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:4903745C>A	ENST00000380378.1	+	1	697	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.L206I	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTCTTCAGCTCTACCTGAA	0.453000													25	61					3.83957e-06	4.29426e-06	0.639603	1	0
IGSF1	3547	broad.mit.edu	37	X	130408758	130408758	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chrX:130408758C>T	ENST00000370904.1	-	24	4449	c.3539G>A	c.(3538-3540)gGt>gAt	p.G1180D	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1194D|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1180D|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1189D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1189	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAATTCAACACCTGGCAGGGG	0.502000													16	200					0	0	0.500413	0	0
FLG	2312	broad.mit.edu	37	1	152278890	152278890	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr1:152278890C>A	ENST00000368799.1	-	3	8507	c.8472G>T	c.(8470-8472)agG>agT	p.R2824S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2824	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)			AGGCATCAGACCTTCCCTGGG	0.582000									Ichthyosis				18	536					7.41877e-09	8.69787e-09	0.608945	1	0
VAPB	9217	broad.mit.edu	37	20	56993313	56993313	+	Silent	SNP	G	G	A	rs141383583		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr20:56993313G>A	ENST00000475243.1	+	2	443	c.105G>A	c.(103-105)ccG>ccA	p.P35P	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Silent_p.P35P	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	35	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TTGGCAACCCGACAGACCGAA	0.493000													15	488					0	0	0.457914	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205550	61205550	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:61205550C>G	ENST00000301761.2	+	3	409	c.335C>G	c.(334-336)cCt>cGt	p.P112R	SDHAF2_ENST00000537782.1_Missense_Mutation_p.P112R|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P100R|SDHAF2_ENST00000534878.1_Missense_Mutation_p.P112R|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000542074.1_Intron	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	112					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						ATTAACGAGCCTAGTAATGAC	0.388000													17	24					0	0	0.592651	0	0
EXTL3	2137	broad.mit.edu	37	8	28600645	28600645	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:28600645C>T	ENST00000220562.4	+	6	3366	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	EXTL3_ENST00000523149.1_Missense_Mutation_p.R438W|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	822						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCAGGCCATCCGGGACATGGT	0.493000													23	127					0	0	0.624587	0	0
DZIP3	9666	broad.mit.edu	37	3	108366847	108366847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:108366847delA	ENST00000361582.3	+	16	2080	c.1850delA	c.(1849-1851)ggfs	p.E617fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.E617fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	617					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CCTCTCATGGAGTACAATATA	0.333													12	68	---	---	---	---					
LOC101243545	101243545	broad.mit.edu	37	3	161146872	161146873	+	RNA	DEL	AT	AT	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr3:161146872_161146873delAT	ENST00000473595.1	+	0	1231					NR_102265.1																						TGGTGAAAAGATATATATATAT	0.342													2	4	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr8:70514026delT	ENST00000260128.4	+	10	1740	c.1023delT	c.(1021-1023)ccfs	p.P341fs	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGTGTGCCTTTTTTTATTC	0.408													8	1371	---	---	---	---					
CBL	867	broad.mit.edu	37	11	119149277	119149288	+	In_Frame_Del	DEL	ATCGTGGTAGAT	ATCGTGGTAGAT	-	rs148368481		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:119149277_119149288delATCGTGGTAGAT	ENST00000264033.4	+	9	1661_1672	c.1285_1296delATCGTGGTAGAT	c.(1285-1296)del	p.IVVD429del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	429	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.G397_I429del(1)|p.I429_F434del(1)|p.I429I(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TACTGAACCCATCGTGGTAGATCCGTTTGATC	0.462			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				22	68	---	---	---	---					
SNX19	399979	broad.mit.edu	37	11	130784287	130784287	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr11:130784287delG	ENST00000265909.4	-	1	2117	c.1548delC	c.(1546-1548)ttfs	p.F516fs	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Frame_Shift_Del_p.F516fs|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	516					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCTCAAAGCTGAAGGTGGCTG	0.537													8	74	---	---	---	---					
BTG1	694	broad.mit.edu	37	12	92538035	92538041	+	Frame_Shift_Del	DEL	AGGACAC	AGGACAC	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr12:92538035_92538041delAGGACAC	ENST00000256015.3	-	2	692_698	c.331_337delGTGTCCT	c.(331-339)acfs	p.VSY111fs		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	111					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CCAATTCTGTAGGACACTTCATAGGGG	0.531			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	63	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													7	242	---	---	---	---					
ARHGAP35	2909	broad.mit.edu	37	19	47503733	47503735	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr19:47503733_47503735delCAG	ENST00000404338.3	+	6	4288_4290	c.4288_4290delCAG	c.(4288-4290)del	p.Q1431del		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1431	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										ACTCTTTATCCAGCAGTGCCCCT	0.596													43	118	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085465	11085467	+	RNA	DEL	ACT	ACT	-	rs10446208	by1000genomes	TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr21:11085465_11085467delACT	ENST00000470054.1	-	0	324									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)		caccactaccactaccaccacca	0.532													2	4	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-78-7153-01A-11D-2036-08	TCGA-78-7153-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03e4e53c-0d21-4492-af79-b70a90d32dff	7be9ef7a-2d28-474f-8c51-c17dabed684c	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													7	55	---	---	---	---					
