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
FASTK	10922	broad.mit.edu	37	7	150775682	150775682	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:150775682G>A	ENST00000297532.6	-	4	869	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FASTK_ENST00000353841.2_Silent_p.F123F|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000482571.1_Silent_p.F237F|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	264					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GAACCACCAGGAAGTGGGCAA	0.637000													12	36					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39985680	39985680	+	Splice_Site	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:39985680C>T	ENST00000373257.3	+	15	1895	c.1803_splice	c.e15-1	p.R602_splice		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	602	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTGGCCTCAGCGGCGCCTGAA	0.612000													12	71					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9517239	9517239	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr18:9517239G>A	ENST00000019317.4	+	3	864	c.641G>A	c.(640-642)cGt>cAt	p.R214H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R214H			Q15311	RBP1_HUMAN	ralA binding protein 1	214	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCCGTTTTCCGTGAATGTATA	0.418000													4	68					0	0	1	0	0
CAP1	10487	broad.mit.edu	37	1	40536136	40536136	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40536136C>T	ENST00000372797.3	+	11	1713	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	CAP1_ENST00000372792.2_Silent_p.D384D|CAP1_ENST00000372798.1_Silent_p.D383D|CAP1_ENST00000372802.1_Silent_p.D383D|CAP1_ENST00000340450.3_Silent_p.D383D|CAP1_ENST00000372805.3_Silent_p.D384D|CAP1_ENST00000479759.1_3'UTR	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	384	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATTCGATGACGTGGTGGGCA	0.383000													23	80					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070003	197070003	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:197070003A>G	ENST00000367409.4	-	18	8634	c.8378T>C	c.(8377-8379)aTg>aCg	p.M2793T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2793					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTTGAATCATAACACCTTC	0.393000													53	124					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66501997	66501997	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:66501997G>A	ENST00000383703.3	-	3	954	c.351C>T	c.(349-351)gtC>gtT	p.V117V	LRIG1_ENST00000273261.3_Silent_p.V117V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	117						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGAGAGAGACGACATGTGATG	0.483000													5	95					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976934	107976934	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:107976934G>T	ENST00000372129.2	-	1	2717	c.2641C>A	c.(2641-2643)Ccc>Acc	p.P881T		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	881						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCTTTGGGGGCTCATGATCT	0.443000													117	184					1.34936e-44	1.46078e-44	1	1	0
ZNF14	7561	broad.mit.edu	37	19	19822868	19822868	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:19822868C>T	ENST00000344099.3	-	4	1360	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				GTTTCGTGTTCTCGAAGGGAA	0.383000													5	241					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248325	42248325	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:42248325C>T	ENST00000293414.1	+	1	252	c.168C>T	c.(166-168)tgC>tgT	p.C56C		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	56					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCGTTCCTGCCGAGACCCAG	0.662000													3	32					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58563978	58563978	+	Missense_Mutation	SNP	G	G	A	rs148034325		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:58563978G>A	ENST00000348616.4	+	9	1343	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	CDH26_ENST00000244047.5_Missense_Mutation_p.R348H	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	348	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TATGAGACTCGCCCAGCGCAA	0.567000													4	90					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44682767	44682767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:44682767C>T	ENST00000281543.5	+	3	528	c.334C>T	c.(334-336)Cga>Tga	p.R112*	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	112					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						gcaagtggaacgagaaagagg	0.333000													10	48					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128388788	128388788	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:128388788T>C	ENST00000368227.3	-	12	2399	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	PTPRK_ENST00000368207.3_Missense_Mutation_p.N678S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.N678S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368215.3_Missense_Mutation_p.N678S|PTPRK_ENST00000368226.4_Missense_Mutation_p.N678S|PTPRK_ENST00000532331.1_Missense_Mutation_p.N678S|PTPRK_ENST00000368213.5_Missense_Mutation_p.N678S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	678	Fibronectin type-III 4.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCAGGTAGGTTTCCCGGGGG	0.542000													4	92					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs146629248	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408000													4	109					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675621	102675621	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr14:102675621G>A	ENST00000335263.5	+	3	1194	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	WDR20_ENST00000454394.2_Missense_Mutation_p.V403M|WDR20_ENST00000424963.2_Missense_Mutation_p.V248M|WDR20_ENST00000499851.2_Missense_Mutation_p.V115M|WDR20_ENST00000342702.3_Missense_Mutation_p.V372M|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Missense_Mutation_p.V199M|WDR20_ENST00000556807.1_Missense_Mutation_p.V311M|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Missense_Mutation_p.V311M	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	372										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTTTGGTTCCGTGGGCCAGGA	0.498000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	88					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49027168	49027168	+	Nonsense_Mutation	SNP	C	C	T	rs121913305		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:49027168C>T	ENST00000267163.4	+	18	1873	c.1735C>T	c.(1735-1737)Cga>Tga	p.R579*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	579	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCAAAGGACCGAGAAGGACC	0.338000	R579*(SW1783_CENTRAL_NERVOUS_SYSTEM)	6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			26	51					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291175	62291175	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62291175G>T	ENST00000378024.4	-	5	10988	c.10714C>A	c.(10714-10716)Ctg>Atg	p.L3572M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3572					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGCCCTTTCAGATCCCCTTCA	0.473000													94	259					7.49063e-41	8.0354e-41	1	1	0
TFPT	29844	broad.mit.edu	37	19	54617896	54617896	+	Silent	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:54617896G>T	ENST00000391759.1	-	2	613	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	TFPT_ENST00000391757.1_Silent_p.R70R|TFPT_ENST00000391758.1_Silent_p.R61R	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	70					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CGCCGCCGCCGACCCCGGGCT	0.647000			T	TCF3	pre-B ALL								24	197					4.4004e-07	4.43801e-07	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067582	190067582	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:190067582C>T	ENST00000367462.3	-	8	2098	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E521K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		623						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTACTGTCTCAAAAAATGTC	0.448000													92	247					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294821	222294821	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:222294821G>A	ENST00000281821.2	-	15	2588	c.2547C>T	c.(2545-2547)tgC>tgT	p.C849C	EPHA4_ENST00000409854.1_Silent_p.C849C|EPHA4_ENST00000392071.4_Silent_p.C798C|EPHA4_ENST00000409938.1_Silent_p.C849C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	849	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCGCAATGGGGCAGTCCATTG	0.512000													4	109					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369149	20369149	+	RNA	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:20369149G>A	ENST00000593655.1	-	0	199																											ttcctaactcgctagggtaca	0.448000													26	57					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641900	106641900	+	RNA	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr14:106641900C>A	ENST00000390605.2	-	0	105																											GGTGAAGTCTCACATGACTGG	0.587000													45	76					4.44401e-20	4.64065e-20	1	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32211032	32211032	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:32211032G>A	ENST00000346541.3	+	6	1186	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.A188T|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.A188T|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.A227T|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.A208T|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.A217T|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.A188T	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	217						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CACAAGCATTGCATCGCCTGC	0.597000													21	130					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952173	85952173	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:85952173G>A	ENST00000268638.5	+	7	1174	c.752G>A	c.(751-753)cGc>cAc	p.R251H	IRF8_ENST00000562492.1_Missense_Mutation_p.R47H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	251					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GAGCTGGTGCGCTTCCCGCCG	0.736000													24	40					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72201220	72201220	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:72201220G>A	ENST00000337273.5	+	24	3106	c.2680G>A	c.(2680-2682)Gct>Act	p.A894T	TNPO1_ENST00000523768.1_Missense_Mutation_p.A844T|TNPO1_ENST00000506351.2_Missense_Mutation_p.A886T|TNPO1_ENST00000454282.1_Missense_Mutation_p.A844T	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	894					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCGTCTTGCAGCTTTTTATGG	0.358000													38	91					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046325	7046325	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046325C>T	ENST00000356654.4	+	5	2132	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	ATN1_ENST00000396684.2_Missense_Mutation_p.S632F	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	632					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AAAACGGCCTCCCCACCTGGG	0.657000													21	59					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107674717	107674717	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:107674717C>G	ENST00000388781.3	-	31	4837	c.4754G>C	c.(4753-4755)cGg>cCg	p.R1585P	LAMB4_ENST00000388780.3_Missense_Mutation_p.R1585P|LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1585P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1585	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGAGTTTGCCCGTCCTTGAGT	0.338000													45	137					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41082889	41082889	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:41082889G>C	ENST00000291842.5	+	1	133	c.84G>C	c.(82-84)aaG>aaC	p.K28N	SHKBP1_ENST00000600733.1_Missense_Mutation_p.K28N	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	28	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGAGGCAAGAGGTGAGTGT	0.677000													4	7					0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31105632	31105632	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:31105632C>T	ENST00000394971.3	-	1	238	c.191G>A	c.(190-192)aGg>aAg	p.R64K	VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	ACCGTTATTCCTTGGCATCCA	0.587000													83	174					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889462	51889462	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr6:51889462C>T	ENST00000371117.3	-	32	5421	c.5146G>A	c.(5146-5148)Gtc>Atc	p.V1716I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1716I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1716	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGCCTCTGACGTGGTACTCC	0.522000													26	74					0	0	1	0	0
PIGX	54965	broad.mit.edu	37	3	196454932	196454932	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:196454932C>T	ENST00000314118.4	+	4	616	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	PIGX_ENST00000541663.1_Missense_Mutation_p.H45Y|PIGX_ENST00000421265.1_Missense_Mutation_p.H112Y	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CTGCCGCTATCATCGGCCGCA	0.453000													32	181					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839806	40839806	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:40839806C>T	ENST00000264638.4	+	8	1330	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	371					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.F371F(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTCACAACTTCGTTCAAGTGC	0.607000													25	77					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794501	109794501	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:109794501C>T	ENST00000271332.3	+	1	1861	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	600	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCGTGACTGTCCTGGATGTCA	0.557000													18	65					0	0	1	0	0
TIFA	92610	broad.mit.edu	37	4	113199441	113199441	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:113199441G>A	ENST00000361717.2	-	2	413	c.132C>T	c.(130-132)agC>agT	p.S44S	TIFA_ENST00000500655.2_Silent_p.S44S	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	44							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCACCACTTCGCTGGAAGGGA	0.408000													80	235					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70228014	70228014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:70228014C>T	ENST00000342771.4	+	7	1222	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q301*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	301										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCCTGCCCTCAGGTCGCACA	0.597000													33	65					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123480156	123480156	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:123480156C>T	ENST00000280562.5	-	13	2039	c.1834G>A	c.(1834-1836)Ggt>Agt	p.G612S	PITPNM2_ENST00000320201.4_Missense_Mutation_p.G612S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G333S|PITPNM2_ENST00000542749.1_Missense_Mutation_p.G612S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	612	Gly-rich.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ccgccaccaccGCAGCAGTGT	0.677000													4	28					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183245190	183245190	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:183245190G>A	ENST00000511685.1	+	2	140	c.17G>A	c.(16-18)cGc>cAc	p.R6H	TENM3_ENST00000406950.2_Missense_Mutation_p.R6H					teneurin transmembrane protein 3																		GTGAAAGAACGCAGGCCTTAC	0.522000													3	53					0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65426077	65426077	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:65426077G>A	ENST00000204549.4	-	1	97	c.43C>T	c.(43-45)Ccg>Tcg	p.P15S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	15	Pro-rich.				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TGCGGGGGCGGTGGGCCTGGG	0.687000													4	3					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046450	7046450	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:7046450C>G	ENST00000356654.4	+	5	2257	c.2020C>G	c.(2020-2022)Cga>Gga	p.R674G	ATN1_ENST00000396684.2_Missense_Mutation_p.R674G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	674					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACCGGGCTATCGAGGAACCTC	0.711000													5	13					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76823412	76823412	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:76823412G>A	ENST00000312010.6	-	6	928	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	USP36_ENST00000542802.2_Missense_Mutation_p.R202C|USP36_ENST00000590546.2_Missense_Mutation_p.R202C|USP36_ENST00000589424.1_Missense_Mutation_p.R202C	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	202					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCCAAAGCGGAAGTGTCGG	0.567000													4	20					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262772	45262772	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:45262772G>A	ENST00000303230.4	-	8	1981	c.1924C>T	c.(1924-1926)Cct>Tct	p.P642S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	642						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCATTTGAGGATAATTGATG	0.498000													39	131					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898251	175898251	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:175898251C>A	ENST00000359240.3	+	5	2245	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	ADAM29_ENST00000404450.4_Missense_Mutation_p.N525K|ADAM29_ENST00000514159.1_Missense_Mutation_p.N525K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N525K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	525	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGAATTGAACACCTTAGGTG	0.413000													33	135					1.06801e-11	1.09587e-11	1	1	0
PATZ1	23598	broad.mit.edu	37	22	31740796	31740796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr22:31740796G>A	ENST00000266269.5	-	1	1422	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PATZ1_ENST00000215919.3_Nonsense_Mutation_p.R265*|PATZ1_ENST00000351933.4_Nonsense_Mutation_p.R265*|PATZ1_ENST00000405309.3_Nonsense_Mutation_p.R265*	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	265					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCCCGGCCTCGCTTGCCAGTC	0.657000													10	19					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189426	100189426	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:100189426G>A	ENST00000241071.6	+	4	781	c.459G>A	c.(457-459)ggG>ggA	p.G153G	FBXO24_ENST00000468962.1_Silent_p.G141G|FBXO24_ENST00000465843.1_Silent_p.G139G|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.G191G|FBXO24_ENST00000360609.2_Silent_p.G139G	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	153						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTACGTGGGGACCCTCTTCT	0.597000													39	97					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952399	119952399	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:119952399C>T	ENST00000307142.4	+	4	2665	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.N823N|SYNPO2_ENST00000434046.2_Silent_p.N823N	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	823						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTACTTTGAACGTGGCTGGTC	0.532000													13	81					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78113871	78113871	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:78113871G>A	ENST00000269349.3	-	5	662	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	147	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGATGTCCTCGCCAACATTGG	0.542000													23	51					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272257	158272257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:158272257G>A	ENST00000264192.3	-	8	1133	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R232*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	338					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGTTGCTTTCGGACACTTCCC	0.488000													7	77					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127953055	127953055	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:127953055G>A	ENST00000335247.7	-	5	705	c.575C>T	c.(574-576)aCt>aTt	p.T192I	CYP27C1_ENST00000409327.1_Missense_Mutation_p.T192I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	192						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAGGTACACAGTCCAAGACAA	0.537000													14	43					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803564	1803564	+	Missense_Mutation	SNP	C	C	T	rs121913482		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1803564C>T	ENST00000340107.4	+	7	998	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	248			R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCCCACAGAGCGCTCCCCGCA	0.741000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				6	34					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79813069	79813069	+	Silent	SNP	G	G	A	rs141223466	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:79813069G>A	ENST00000331483.4	-	4	795	c.573C>T	c.(571-573)gaC>gaT	p.D191D	P4HB_ENST00000439918.2_Silent_p.D147D|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	191					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGAGAACACGTCACTGTTGG	0.537000													108	254					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88478395	88478395	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:88478395C>T	ENST00000324166.5	+	4	2356	c.665C>T	c.(664-666)tCg>tTg	p.S222L	THNSL2_ENST00000402102.1_Missense_Mutation_p.S222L|THNSL2_ENST00000377254.3_Missense_Mutation_p.S222L|THNSL2_ENST00000449349.1_Missense_Mutation_p.S190L|THNSL2_ENST00000343544.4_Missense_Mutation_p.S222L|THNSL2_ENST00000358591.2_Missense_Mutation_p.S222L|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	222					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCCTGAATTCGATCAACTGG	0.537000													62	173					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117127584	117127584	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:117127584G>T	ENST00000369486.3	-	9	3296	c.2531C>A	c.(2530-2532)aCc>aAc	p.T844N	IGSF3_ENST00000318837.6_Missense_Mutation_p.T864N|IGSF3_ENST00000369483.1_Missense_Mutation_p.T864N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	844	Ig-like C2-type 7.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGTTATGCTGGTGCGGTTGAG	0.612000													14	47					3.27435e-08	3.33081e-08	1	1	0
TMC5	79838	broad.mit.edu	37	16	19468240	19468240	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:19468240G>A	ENST00000219821.5	+	1	469	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	TMC5_ENST00000561503.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Intron	NM_024780.4	NP_079056.2	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	0						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGGTGCTGCGGTTTTCAACA	0.433000													20	43					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187560921	187560921	+	Silent	SNP	C	C	T	rs115460650	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:187560921C>T	ENST00000441802.2	-	4	3806	c.3597G>A	c.(3595-3597)acG>acA	p.T1199T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1199	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTCCTTGACGTAGTTGTGA	0.333000										HNSCC(5;0.00058)			11	204					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150498944	150498944	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:150498944C>G	ENST00000354546.5	-	18	1582	c.1355G>C	c.(1354-1356)gGc>gCc	p.G452A	ANXA6_ENST00000356496.5_Missense_Mutation_p.G452A|ANXA6_ENST00000521512.1_Missense_Mutation_p.G245A|ANXA6_ENST00000523714.1_Missense_Mutation_p.G420A|ANXA6_ENST00000377751.5_Missense_Mutation_p.G109A	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	452						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATCTGTGCCGGCTCCCTG	0.547000													6	72					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6938313	6938313	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrY:6938313C>T	ENST00000383032.1	+	9	1181	c.534C>T	c.(532-534)caC>caT	p.H178H	TBL1Y_ENST00000346432.3_Silent_p.H178H|TBL1Y_ENST00000355162.2_Silent_p.H178H	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	178					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						TTCGGGGCCACGAGTCTGAGG	0.512000													27	22					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134305762	134305762	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:134305762C>T	ENST00000282611.6	+	2	318	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	78					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATAAGGTACCGCTTGTTCAG	0.338000													54	151					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34459693	34459693	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:34459693G>A	ENST00000374012.3	+	9	1353	c.1224G>A	c.(1222-1224)acG>acA	p.T408T	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAGAAAACACGATGAAAACAG	0.453000													57	209					0	0	1	0	0
BCAP31	10134	broad.mit.edu	37	X	152968412	152968412	+	Silent	SNP	G	G	A	rs141341467	byFrequency	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:152968412G>A	ENST00000458587.2	-	6	1209	c.780C>T	c.(778-780)gaC>gaT	p.D260D	BCAP31_ENST00000477175.1_Intron|BCAP31_ENST00000345046.6_Silent_p.D193D|BCAP31_ENST00000441714.1_Silent_p.D193D	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	193					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCTCGTCCTTTAGCT	0.587000													70	167					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73205639	73205639	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:73205639C>T	ENST00000545377.1	+	34	4740	c.4564C>T	c.(4564-4566)Cgg>Tgg	p.R1522W	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R1209W|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1478W|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1522W|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R442W	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GGCGAGGATGCGGGCCCAGCA	0.721000													7	7					0	0	1	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376601	21376601	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr20:21376601T>A	ENST00000351817.4	-	2	1641	c.1013A>T	c.(1012-1014)gAg>gTg	p.E338V		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	338					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						GCCGCTGTACTccccggcggc	0.766000													6	39					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46407895	46407895	+	Silent	SNP	G	G	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46407895G>C	ENST00000433765.2	-	1	212	c.213C>G	c.(211-213)ctC>ctG	p.L71L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	71					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CCAGGCTGAAGAGGAAGTAGT	0.567000													18	43					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373658	62373658	+	Silent	SNP	G	G	A	rs150541468	by1000genomes	TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:62373658G>A	ENST00000394773.2	-	13	1840	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	EML3_ENST00000494176.2_Silent_p.H483H|EML3_ENST00000278845.4_Silent_p.H512H|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Silent_p.H511H|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000531557.1_Silent_p.H294H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	511						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTCATGAGCGTGAGCCTGGG	0.622000													11	33					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701720	40701720	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:40701720A>C	ENST00000372771.4	+	8	1373	c.1346A>C	c.(1345-1347)aAt>aCt	p.N449T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	449					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCGGTTCCAAATTCTCTTCGA	0.373000													79	144					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32205187	32205187	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:32205187C>T	ENST00000373658.3	-	15	2558	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	BAI2_ENST00000257070.4_Silent_p.T739T|BAI2_ENST00000398547.1_Silent_p.T672T|BAI2_ENST00000527361.1_Silent_p.T739T|BAI2_ENST00000440175.2_Silent_p.T381T|BAI2_ENST00000398542.1_Silent_p.T672T|BAI2_ENST00000373655.2_Silent_p.T739T|BAI2_ENST00000398538.1_Silent_p.T727T|BAI2_ENST00000398556.3_Silent_p.T687T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	739					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCATGGGGAACGTGATGTCAC	0.632000													7	47					0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87563592	87563592	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:87563592C>G	ENST00000370550.5	+	5	1023	c.660C>G	c.(658-660)ttC>ttG	p.F220L	HS2ST1_ENST00000370551.4_Missense_Mutation_p.F220L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F194L|HS2ST1_ENST00000356813.4_Missense_Mutation_p.F194L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	220						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAATCCCGTTCTTCTGTGGCC	0.448000													26	73					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067263	190067263	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:190067263C>T	ENST00000367462.3	-	8	2417	c.2186G>A	c.(2185-2187)cGt>cAt	p.R729H	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R627H	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		729						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGTCTATGACGAAGCAAGCA	0.463000													5	135					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83378133	83378133	+	Silent	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:83378133T>C	ENST00000273920.3	+	5	856	c.588T>C	c.(586-588)atT>atC	p.I196I	ENOPH1_ENST00000509635.1_Silent_p.I108I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	196					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						ACCGAAAGATTGCAGACAGCA	0.388000													8	139					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84806160	84806160	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:84806160G>A	ENST00000219473.7	+	12	2125	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	USP10_ENST00000570191.1_Missense_Mutation_p.R675Q	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	671					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GAGATAAGTCGAAGAGTGACT	0.478000													54	160					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157668357	157668357	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:157668357T>C	ENST00000368184.3	-	4	406	c.115A>G	c.(115-117)Aaa>Gaa	p.K39E	FCRL3_ENST00000368186.5_Missense_Mutation_p.K39E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGAGCCACTTTTTCTCCTTTG	0.453000													12	93					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85655743	85655743	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:85655743C>A	ENST00000341460.5	-	2	1487	c.1438G>T	c.(1438-1440)Gca>Tca	p.A480S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	480					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.A402S(1)|p.A480S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTTTACCTGCAAAAGGAGAT	0.328000													44	108					6.17242e-35	6.56167e-35	1	1	0
OR5T3	390154	broad.mit.edu	37	11	56020607	56020607	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:56020607T>G	ENST00000303059.3	+	1	932	c.932T>G	c.(931-933)gTg>gGg	p.V311G		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TACACAATTGTGATTCCCAAG	0.333000													4	99					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808029	1808029	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:1808029C>G	ENST00000340107.4	+	15	2267	c.2011C>G	c.(2011-2013)Cga>Gga	p.R671G	FGFR3_ENST00000412135.2_Missense_Mutation_p.R557G|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Missense_Mutation_p.R557G|FGFR3_ENST00000440486.2_Missense_Mutation_p.R669G|FGFR3_ENST00000260795.2_Missense_Mutation_p.R669G	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	669	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTTGTTTGACCGAGTCTACAC	0.657000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				24	39					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4830002	4830002	+	Silent	SNP	C	C	T	rs142462599		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:4830002C>T	ENST00000252318.2	+	1	496	c.159C>T	c.(157-159)taC>taT	p.Y53Y	RP11-234B24.6_ENST00000544741.2_Intron	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	53			Y -> D (in dbSNP:rs10849133).|Y -> N.			Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATAAACGCTACGGGGCAGTGA	0.468000													34	107					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76825863	76825863	+	Silent	SNP	G	G	A	rs147938006		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:76825863G>A	ENST00000248598.5	-	2	1085	c.1053C>T	c.(1051-1053)caC>caT	p.H351H	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	351	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACTTCAGATCGTGGTTGTAAT	0.408000													4	135					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46939666	46939666	+	Splice_Site	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:46939666G>A	ENST00000258947.3	+	12	1274	c.1173_splice	c.e12+1	p.P391_splice	CALCOCO2_ENST00000508679.1_Splice_Site_p.P319_splice|CALCOCO2_ENST00000509507.1_Splice_Site_p.P412_splice|CALCOCO2_ENST00000448105.2_Splice_Site_p.P415_splice|CALCOCO2_ENST00000416445.2_Splice_Site_p.P349_splice	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	391					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCCCCAGCCCGGTAAGTATTT	0.413000													35	102					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119205708	119205708	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:119205708C>G	ENST00000295588.4	+	7	751	c.667C>G	c.(667-669)Ctt>Gtt	p.L223V		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	223						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TCCTCTCATTCTTCTGTCTCG	0.408000													8	243					0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512000													20	60					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564148	46564148	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:46564148C>T	ENST00000458649.2	-	7	1837	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P	AMBRA1_ENST00000528950.1_Silent_p.P473P|AMBRA1_ENST00000533727.1_Silent_p.P383P|AMBRA1_ENST00000314845.3_Silent_p.P383P|AMBRA1_ENST00000298834.3_Silent_p.P473P|AMBRA1_ENST00000426438.1_Silent_p.P473P|AMBRA1_ENST00000534300.1_Silent_p.P473P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	473					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		ACCCTGATGCCGGAAAACCCC	0.557000													4	109					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591221	125591221	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:125591221G>A	ENST00000504087.1	-	4	4248	c.3211C>T	c.(3211-3213)Cca>Tca	p.P1071S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P892S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1071										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATGGTTTGGATCAGCACCA	0.418000													36	128					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41245817	41245817	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr15:41245817C>T	ENST00000446533.3	+	1	471	c.162C>T	c.(160-162)ccC>ccT	p.P54P	CHAC1_ENST00000444189.2_Silent_p.P54P	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	54					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACACCCCGCCCACCTCGCAGT	0.692000													8	48					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140993	143140993	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:143140993G>A	ENST00000332690.1	+	1	448	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	150					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAGCTCTGTAGGGCTCTCCAG	0.453000													66	120					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260377	66260377	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:66260377C>T	ENST00000532677.1	+	10	1637	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	DPP3_ENST00000531863.1_Silent_p.P413P|DPP3_ENST00000360510.2_Silent_p.P393P|DPP3_ENST00000530165.1_Silent_p.P363P|DPP3_ENST00000541961.1_Silent_p.P393P|DPP3_ENST00000453114.1_Silent_p.P393P|DPP3_ENST00000533799.1_3'UTR	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	393					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCAACATCCCCAACTGTGAGT	0.597000													24	75					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23390046	23390046	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:23390046T>G	ENST00000343070.2	+	11	1600	c.1424T>G	c.(1423-1425)tTg>tGg	p.L475W	SCNN1B_ENST00000568085.1_Missense_Mutation_p.L439W|SCNN1B_ENST00000568923.1_Missense_Mutation_p.L448W|SCNN1B_ENST00000307331.5_Missense_Mutation_p.L520W	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	475					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTCCACGTCTTGTCTCAGGAG	0.592000													3	55					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812977	168812977	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:168812977C>T	ENST00000464456.1	-	11	3515	c.2315G>A	c.(2314-2316)cGc>cAc	p.R772H	MECOM_ENST00000494292.1_Missense_Mutation_p.R960H|MECOM_ENST00000468789.1_Missense_Mutation_p.R781H|MECOM_ENST00000472280.1_Missense_Mutation_p.R782H|MECOM_ENST00000392736.3_Missense_Mutation_p.R781H|MECOM_ENST00000264674.3_Missense_Mutation_p.R846H|MECOM_ENST00000460814.1_Missense_Mutation_p.R772H|MECOM_ENST00000433243.2_Missense_Mutation_p.R782H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGATGTTGCGAACATGCCT	0.333000													7	155					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90473298	90473298	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr1:90473298C>T	ENST00000340281.4	+	5	747	c.604C>T	c.(604-606)Cga>Tga	p.R202*	ZNF326_ENST00000370447.2_Nonsense_Mutation_p.R113*|ZNF326_ENST00000455342.2_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	202	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AGGCAGAGGCCGAGGCCGAGG	0.448000													19	83					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49343283	49343283	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:49343283G>A	ENST00000351842.4	-	8	860	c.852C>T	c.(850-852)ctC>ctT	p.L284L	USP4_ENST00000265560.4_Silent_p.L331L|USP4_ENST00000488520.1_5'UTR	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	331					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTCATCTTTGAGAAAGTAGT	0.438000													6	59					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94230404	94230404	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:94230404C>T	ENST00000515393.1	-	11	1788	c.1789G>A	c.(1789-1791)Gtc>Atc	p.V597I	MCTP1_ENST00000312216.8_Missense_Mutation_p.V376I|MCTP1_ENST00000505208.1_Missense_Mutation_p.V376I|MCTP1_ENST00000505078.1_Missense_Mutation_p.V113I|MCTP1_ENST00000429576.2_Missense_Mutation_p.V330I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	597					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGGGAGTTGACAGACAGGTCA	0.522000													41	100					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245982	46245982	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:46245982A>G	ENST00000334344.6	+	15	4248	c.4076A>G	c.(4075-4077)aAt>aGt	p.N1359S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.N969S|ARID2_ENST00000422737.1_Missense_Mutation_p.N1210S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1359					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCGCTAGTTAATGGAATCTGT	0.353000			"""N, S, F"""		hepatocellular carcinoma								19	52					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000586078.1_3'UTR|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607000													10	33					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454609	53454609	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:53454609T>C	ENST00000357666.4	-	5	719	c.419A>G	c.(418-420)gAc>gGc	p.D140G	ZNF816_ENST00000444460.2_Missense_Mutation_p.D140G|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATCACTTCGGTCTGTACTACC	0.398000													75	443					0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35675835	35675835	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr9:35675835G>A	ENST00000378357.4	+	3	615	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	171	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCCAGCTCGCCGCCTTCTG	0.721000													8	29					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633043	106633043	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:106633043C>A	ENST00000378026.4	-	2	1704	c.1568G>T	c.(1567-1569)cGt>cTt	p.R523L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	523						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGAGGCAGACGGGCGGCCTG	0.587000													33	70					8.16721e-17	8.45378e-17	1	1	0
CEP120	153241	broad.mit.edu	37	5	122708454	122708454	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:122708454C>T	ENST00000306467.5	-	17	2675	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	CEP120_ENST00000306481.6_Missense_Mutation_p.E765K|CEP120_ENST00000328236.5_Missense_Mutation_p.E791K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	791						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TACTTATTTTCAGCATCATTA	0.294000													10	42					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2495538	2495538	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr16:2495538T>C	ENST00000397066.4	+	10	1097	c.1009T>C	c.(1009-1011)Tgt>Cgt	p.C337R		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	337	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACCGTGGAGTGTGTGGACCG	0.612000													20	51					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43367868	43367868	+	RNA	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:43367868C>G	ENST00000344686.2	-	0	352							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCAGCCTGGGCGATGATAGAG	0.627000													13	38					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:50399114G>A	ENST00000595948.1	-	5	896	c.276C>T	c.(274-276)gcC>gcT	p.A92A	IL4I1_ENST00000391826.2_Silent_p.A70A|IL4I1_ENST00000341114.3_Silent_p.A92A	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	70						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CCACCAGCCCGGCCACACCAG	0.627000													56	242					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154798	22154798	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:22154798G>A	ENST00000397126.4	-	4	3186	c.3038C>T	c.(3037-3039)tCa>tTa	p.S1013L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGTTTGATGACCAGTTGAA	0.393000													31	115					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33592770	33592770	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr3:33592770C>G	ENST00000399362.4	-	30	3501	c.3148G>C	c.(3148-3150)Gaa>Caa	p.E1050Q	CLASP2_ENST00000359576.5_Missense_Mutation_p.E1042Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E532Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E830Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.E820Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E810Q|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1051Q	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1052										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTGGGTTCTGTTGTCCAA	0.388000													46	65					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942996	6942996	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr11:6942996C>T	ENST00000317834.3	+	1	792	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCTTTTTCCACCTGTGGC	0.453000													32	94					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146460987	146460987	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr4:146460987C>T	ENST00000515385.1	+	3	974	c.432C>T	c.(430-432)agC>agT	p.S144S	SMAD1_ENST00000394092.2_Silent_p.S144S|SMAD1_ENST00000302085.4_Silent_p.S144S			Q15797	SMAD1_HUMAN	SMAD family member 1	144					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CAAGACACAGCGAATATAATC	0.413000													11	72					0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755864	56755864	+	Silent	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:56755864C>T	ENST00000398189.3	-	2	203	c.126G>A	c.(124-126)caG>caA	p.Q42Q	APOF_ENST00000541105.1_Silent_p.Q24Q	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	42					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						AGACATTTGTCTGCTTTCCAT	0.517000													58	95					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129545370	129545370	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chrX:129545370C>T	ENST00000305536.6	+	5	416	c.352C>T	c.(352-354)Cct>Tct	p.P118S	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	118							nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTATCGGGCTCCTAAGGACTC	0.493000													84	35					0	0	1	0	0
C5orf22	55322	broad.mit.edu	37	5	31534463	31534463	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr5:31534463G>T	ENST00000325366.9	+	2	293	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	56										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CTCACATCCAGACCTCCTTAT	0.398000													49	137					8.94452e-30	9.42369e-30	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													4	73					0	0	1	0	0
CLDN7	1366	broad.mit.edu	37	17	7164179	7164179	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:7164179G>A	ENST00000538261.3	-	2	1250	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	CLDN7_ENST00000360325.7_Missense_Mutation_p.R117C|CLDN7_ENST00000571881.2_Missense_Mutation_p.P108L|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.R117C	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	117					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ATGGCTATACGGGCCTTCTTC	0.607000													4	102					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153533991	153533991	+	Splice_Site	DEL	T	T	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr2:153533991delT	ENST00000410080.1	-	9	1173		c.e9-2			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGATCATTGCTATTAAAGAGA	0.269													2	4	---	---	---	---					
ZNRF2P2	100271874	broad.mit.edu	37	7	29699825	29699825	+	RNA	DEL	T	T	-	rs142232912		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:29699825delT	ENST00000426767.1	-	0	366					NR_024278.1																						ATTATTGACCTTTTTTTTTTC	0.254													2	4	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)del	p.E32del	CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552													2	4	---	---	---	---					
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)del	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739													2	4	---	---	---	---					
NEURL1	9148	broad.mit.edu	37	10	105344726	105344726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr10:105344726delC	ENST00000369780.4	+	4	1492	c.1083delC	c.(1081-1083)gafs	p.D361fs	NEURL_ENST00000369777.2_Frame_Shift_Del_p.D344fs	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		361	NHR 2.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCACGTGCGACCCCGGCACGC	0.746													2	4	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6058985	6058986	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr12:6058985_6058986insT	ENST00000261405.5	-	51	8473_8474	c.8219_8220insA	c.(8218-8220)atcfs	p.I2740fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2740	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTACTTCAGACTTACAGCTTCC	0.540													29	77	---	---	---	---					
GAS6	2621	broad.mit.edu	37	13	114538573	114538574	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr13:114538573_114538574delCC	ENST00000357389.3	-	7	776_777	c.624_625delGG	c.(622-627)ggagfs	p.GE208fs	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Frame_Shift_Del_p.GE154fs|GAS6_ENST00000450766.1_5'UTR|GAS6_ENST00000327773.6_Frame_Shift_Del_p.GE208fs			Q14393	GAS6_HUMAN	growth arrest-specific 6	208	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCGCGCCTCCCCGCAGGCCT	0.649													26	34	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	8	---	---	---	---					
GLTSCR1	29998	broad.mit.edu	37	19	48205190	48205190	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QK-A6V9-01A-11D-A34J-08	TCGA-QK-A6V9-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdef350b-07af-4784-86c7-3bf09debacea	56cafe0e-9834-4aec-906d-11315a980177	g.chr19:48205190delC	ENST00000396720.3	+	15	4395	c.4201delC	c.(4201-4203)cgfs	p.P1401fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1401							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTGGCGCGCCGGAGGGGAC	0.791													2	4	---	---	---	---