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
OTOF	9381	broad.mit.edu	37	2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	rs143889717		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:26686908C>T	ENST00000272371.2	-	40	5153	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000402415.3_Missense_Mutation_p.R986H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H|OTOF_ENST00000338581.6_Missense_Mutation_p.R909H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667000													63	148					0	0	1	0	0
KIF25	0	broad.mit.edu	37	6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000354419.2_Missense_Mutation_p.A193V|KIF25_ENST00000351261.3_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572000													16	48					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74012998	74012998	+	Silent	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:74012998T>C	ENST00000358602.4	-	9	1835	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q	ANKRD17_ENST00000330838.6_Silent_p.Q573Q|ANKRD17_ENST00000509867.2_Silent_p.Q460Q|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	573					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGACCCTCTTGAGCAGCTT	0.398000													43	75					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487479	110487479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:110487479C>T	ENST00000378402.5	+	51	8842	c.8738C>T	c.(8737-8739)tCg>tTg	p.S2913L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2913					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATATACATCGACATTCTAT	0.338000										HNSCC(38;0.096)			8	13					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292807	102292807	+	RNA	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:102292807C>A	ENST00000561463.1	+	0	853																		p.T132N(1)									CCAACCTGCACTCGCGTGGGA	0.607000													3	35					1	1	1	1	0
ADH1C	126	broad.mit.edu	37	4	100263953	100263953	+	RNA	SNP	A	A	G	rs78836241		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:100263953A>G	ENST00000515683.1	-	0	1178					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGATCATACCATGGTGTCAAG	0.413000													81	176					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296274	99296274	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:99296274G>A	ENST00000375241.1	-	9	1332	c.881C>T	c.(880-882)gCc>gTc	p.A294V	CDC14B_ENST00000265659.2_Missense_Mutation_p.A294V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A257V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A294V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A294V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A294V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	294	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTGACAATGGCATCAGTAGG	0.423000													8	8					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3021883	3021883	+	Missense_Mutation	SNP	C	C	T	rs141853880	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:3021883C>T	ENST00000381127.1	+	9	1404	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	ARSF_ENST00000359361.2_Missense_Mutation_p.R395W|ARSF_ENST00000537104.1_Missense_Mutation_p.R395W	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	395						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCAGCTGGACGGTTGATTAA	0.478000													36	80					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541162	44541162	+	Silent	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr3:44541162T>C	ENST00000436261.1	-	4	1267	c.1107A>G	c.(1105-1107)caA>caG	p.Q369Q	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	369					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						GTTCAACAAGTTGAGAGATCT	0.423000													3	61					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562426	21562426	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:21562426C>A	ENST00000382592.4	-	4	1898	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V	LATS2_ENST00000542899.1_Missense_Mutation_p.G498V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	498					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAAGGCGCCTGCGCCGCC	0.766000													6	7					0.000157383	0.00016188	1	1	0
DNAJC28	54943	broad.mit.edu	37	21	34860571	34860571	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:34860571A>T	ENST00000314399.3	-	2	1568	c.1130T>A	c.(1129-1131)aTg>aAg	p.M377K	DNAJC28_ENST00000381947.3_Missense_Mutation_p.M377K|DNAJC28_ENST00000402202.1_Missense_Mutation_p.M377K	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	377				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CCACAGATTCATCCAGTTTAA	0.299000													8	20					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50689416	50689416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr22:50689416G>T	ENST00000216271.5	-	1	398	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	HDAC10_ENST00000349505.4_Missense_Mutation_p.L16M|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000448072.1_Missense_Mutation_p.L16M	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	16	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCAGAGCAGCCGGGTGGCC	0.667000													27	41					7.01153e-11	7.64895e-11	1	1	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	75					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349612	150349612	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:150349612C>A	ENST00000218316.3	+	2	1626	c.1557C>A	c.(1555-1557)gaC>gaA	p.D519E		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	519	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCTGACTATCCCAAGC	0.617000													76	179					1.19347e-43	1.36397e-43	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15559198	15559198	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:15559198C>T	ENST00000378076.3	-	30	3504	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1051					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTTCCCTGTCGGTCATGTCC	0.443000													15	30					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603027	138603027	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:138603027C>T	ENST00000440172.1	-	2	1393	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E449K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E399K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	449						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACAGAGTCTCGGCACCATCC	0.517000			O	BRAF	pilocytic astrocytoma								10	102					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58287907	58287907	+	Silent	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr16:58287907A>G	ENST00000219299.4	+	3	313	c.234A>G	c.(232-234)cgA>cgG	p.R78R	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	78						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TGCAGTTTCGAGGCAGGCGTA	0.498000													41	72					0	0	1	0	0
CHRNA2	0	broad.mit.edu	37	8	27321507	27321507	+	Silent	SNP	T	T	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:27321507T>G	ENST00000407991.1	-	6	1061	c.453A>C	c.(451-453)gcA>gcC	p.A151A	CHRNA2_ENST00000240132.2_Silent_p.A136A|CHRNA2_ENST00000520933.2_Silent_p.A151A	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	151						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACTCCCCATCTGCACTGAGAA	0.622000													7	30					0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42991175	42991175	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:42991175G>T	ENST00000253408.5	-	3	604	c.539C>A	c.(538-540)aCc>aAc	p.T180N	GFAP_ENST00000586793.1_Missense_Mutation_p.T180N|GFAP_ENST00000435360.2_Missense_Mutation_p.T180N|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGGGCCAGGGTGGCTTCATC	0.622000													65	97					4.09166e-32	4.5323e-32	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	132091353	132091353	+	Splice_Site	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:132091353C>T	ENST00000370836.2	-	3	845	c.428_splice	c.e3-1	p.V144_splice	HS6ST2_ENST00000370837.1_5'UTR|HS6ST2_ENST00000521489.1_Splice_Site_p.V144_splice	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	144						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATGTTCCCGACGCTGGGGGAA	0.627000													10	46					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152319418	152319418	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:152319418C>T	ENST00000243326.4	+	29	3867	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	RIF1_ENST00000428287.2_Silent_p.D1128D|RIF1_ENST00000453091.2_Silent_p.D1128D|RIF1_ENST00000430328.2_Silent_p.D1128D|RIF1_ENST00000444746.2_Silent_p.D1128D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	1128					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGACAGTGACATTGTCATTC	0.393000													16	34					0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203897	5203897	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:5203897C>T	ENST00000334314.3	-	3	376	c.300G>A	c.(298-300)ccG>ccA	p.P100P						aldo-keto reductase family 1, member C-like 1											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TTTCTAGGGCCGGGTGAACCA	0.388000													13	22					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98504555	98504555	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:98504555G>A	ENST00000186436.5	-	4	547	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TMEM131_ENST00000425805.2_Missense_Mutation_p.P58S	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	107						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATCGTATGGGCCTGCAATTC	0.338000													8	24					0	0	1	0	0
MIR520H	0	broad.mit.edu	37	19	54245794	54245794	+	RNA	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:54245794A>G	ENST00000385126.1	+	0	29					NR_030215.1																						TAGAGGAAGCACTTTCTGTTT	0.388000													20	38					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41333261	41333261	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr12:41333261G>A	ENST00000551295.2	+	12	1470	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	CNTN1_ENST00000347616.1_Silent_p.G451G|CNTN1_ENST00000547702.1_Silent_p.G451G|CNTN1_ENST00000360099.3_Silent_p.G451G|CNTN1_ENST00000547849.1_Silent_p.G451G|CNTN1_ENST00000348761.2_Silent_p.G440G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	451	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAGTAAAGGGACAGAGTGGC	0.373000													9	25					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978402	107978402	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:107978402G>A	ENST00000372129.2	-	1	1249	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	391						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						AAAGCATCTCGTCTTCCCCGT	0.652000													42	86					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47918328	47918328	+	Silent	SNP	A	A	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:47918328A>C	ENST00000276054.4	-	5	2065	c.1131T>G	c.(1129-1131)ccT>ccG	p.P377P	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.P487P|ZNF630_ENST00000409324.3_Silent_p.P501P			Q2M218	ZN630_HUMAN	zinc finger protein 630	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTATGATAAGAGGTGATTTCT	0.413000													32	42					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221185	20221185	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:20221185C>T	ENST00000361479.5	+	3	1040	c.972C>T	c.(970-972)acC>acT	p.T324T	MPHOSPH8_ENST00000414242.2_Silent_p.T324T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	324					cell cycle	cytoplasm|nucleus		p.T324T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGGAGGATACCGATGTCAGAG	0.498000													13	40					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292801	102292801	+	RNA	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:102292801C>A	ENST00000561463.1	+	0	847																		p.T130N(1)									TGCTGTCCAACCTGCACTCGC	0.597000													3	42					1	1	1	1	0
LRP3	4037	broad.mit.edu	37	19	33696671	33696671	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:33696671G>A	ENST00000253193.7	+	5	1197	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	332	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCAACCACCGGCCCGTGAGC	0.706000													9	1					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								17	68					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953608	140953608	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:140953608A>T	ENST00000277549.5	+	31	4708	c.2139A>T	c.(2137-2139)gaA>gaT	p.E713D	CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1517D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1517					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCATGGAATGCGTGCTGA	0.507000													4	43					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48887870	48887870	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:48887870G>T	ENST00000315869.7	-	10	1786	c.1527C>A	c.(1525-1527)caC>caA	p.H509Q	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	509					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGTCCCCCAGGTGGTCGCTGG	0.672000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								16	127					8.10497e-08	8.70982e-08	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155306962	155306962	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:155306962G>C	ENST00000392825.3	+	13	2137	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	524	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCAATGTCTCGATGAACCTTC	0.438000													30	60					0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149990490	149990490	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:149990490C>T	ENST00000539352.1	-	3	315	c.64G>A	c.(64-66)Gca>Aca	p.A22T	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A22T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	22					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										GTCCAAGATGCCGCCAAGGCC	0.507000													3	20					0	0	1	0	0
GALNT18	374378	broad.mit.edu	37	11	11642953	11642953	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:11642953A>G	ENST00000227756.4	-	1	599	c.188T>C	c.(187-189)aTt>aCt	p.I63T	GALNT18_ENST00000526064.1_5'UTR	NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CAGCCGCTCAATAATCTTCAG	0.622000													52	110					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59611461	59611461	+	Silent	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:59611461T>C	ENST00000541311.1	-	2	306	c.72A>G	c.(70-72)tcA>tcG	p.S24S	GIF_ENST00000257248.2_Silent_p.S49S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	49					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGGCTGATGAAGTCACCG	0.522000													14	51					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170182	166170182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:166170182G>A	ENST00000375437.2	+	9	1377	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	SCN2A_ENST00000375427.2_Missense_Mutation_p.G363S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G363S|SCN2A_ENST00000357398.3_Missense_Mutation_p.G363S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	363					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCCAACTATGGCTACACGAG	0.433000													29	60					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40899883	40899883	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40899883G>A	ENST00000324001.7	-	7	4646	c.4376C>T	c.(4375-4377)gCg>gTg	p.A1459V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1459					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGACAGCCGCAGCCTGAGC	0.617000													3	51					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55105741	55105741	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:55105741T>A	ENST00000453777.1	+	2	202	c.32T>A	c.(31-33)cTc>cAc	p.L11H	LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L11H|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	11					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGATCTGTCTCAGTGAGATT	0.587000													51	62					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	72					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637000													3	111					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486807	94486807	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:94486807G>A	ENST00000375708.3	-	9	2167	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	ROR2_ENST00000375715.1_Missense_Mutation_p.R517C|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCATCCAGCGGATAGGCAGC	0.572000													3	40					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048876	42048876	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:42048876G>A	ENST00000372584.1	-	3	2607	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	HIVEP3_ENST00000372583.1_Silent_p.T531T|HIVEP3_ENST00000247584.5_Silent_p.T531T|HIVEP3_ENST00000429157.2_Silent_p.T531T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	531	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGGGGGGGCGGTACTGGGCG	0.607000													3	63					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107229997	107229997	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:107229997G>A	ENST00000273980.4	-	3	568	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	TBCK_ENST00000394706.3_Missense_Mutation_p.R41C|TBCK_ENST00000394708.2_Missense_Mutation_p.R41C|TBCK_ENST00000432496.2_Missense_Mutation_p.R41C|TBCK_ENST00000361687.4_Missense_Mutation_p.R41C			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	41	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTTGAAAGCGCCCTAAAATT	0.413000													24	63					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26204972	26204972	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:26204972G>C	ENST00000360441.4	+	1	115	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TACCAAGCCTGCCATCCGGCG	0.577000													4	100					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	852925	852925	+	Silent	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:852925C>T	ENST00000590230.1	+	3	258	c.117C>T	c.(115-117)caC>caT	p.H39H	ELANE_ENST00000263621.1_Silent_p.H39H			P08246	ELNE_HUMAN	elastase, neutrophil expressed	39	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCGGCCCCACGCGTGGCCCT	0.721000													6	22					0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111365994	111365994	+	Missense_Mutation	SNP	G	G	A	rs140812937		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:111365994G>A	ENST00000356018.2	-	5	755	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	186					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			p.R186C(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTCTTTTTGCGGGGGATTTGT	0.448000													25	50					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116381344	116381344	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:116381344C>T	ENST00000606080.1	-	1	577	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	44	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAAGTAGTGGCCATGCCTCTG	0.517000													6	157					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	44					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20205954	20205954	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:20205954C>A	ENST00000379565.3	-	9	973	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V227L	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	256	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.V256M(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACCATTAACACACCAAAAGAC	0.388000													68	189					1.10345e-40	1.24139e-40	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47840379	47840379	+	Silent	SNP	G	G	A	rs138774842		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:47840379G>A	ENST00000289672.2	-	54	8111	c.8061C>T	c.(8059-8061)ccC>ccT	p.P2687P	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGCCCGGGGAAGGCGT	0.567000													42	107					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085535	10085535	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:10085535C>T	ENST00000380861.4	+	11	1827	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	WWC3_ENST00000454666.1_Missense_Mutation_p.S479L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	479										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCACGGGACTCGCCGCTGGCG	0.706000													7	16					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14557260	14557260	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:14557260C>A	ENST00000242783.6	+	4	662	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PKN1_ENST00000342216.4_Missense_Mutation_p.A172D|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	166					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGACAGCCCAGCAGATG	0.612000													6	126					3.59834e-05	3.75479e-05	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152827614	152827614	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:152827614G>A	ENST00000370186.1	+	18	3357	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011R|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G1025R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1025					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G1025W(3)|p.G1011W(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTTGGCGGGAAGCCCTT	0.612000													6	395					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	38					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701977	40701978	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:40701977_40701978delAA	ENST00000372771.4	+	8	1630_1631	c.1603_1604delAA	c.(1603-1605)afs	p.K535fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	535					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)			GCATAAGGAGAAAAGAGACAAA	0.356													29	31	---	---	---	---					
FUBP1	8880	broad.mit.edu	37	1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.250_splice	c.e3+1	p.83_splice	FUBP1_ENST00000370768.2_Splice_Site_p.83_splice|FUBP1_ENST00000436586.2_Splice_Site_p.104_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"""F, N"""		oligodendroglioma								8	14	---	---	---	---					
ALMS1	7840	broad.mit.edu	37	2	73746974	73746976	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:73746974_73746976delAAC	ENST00000264448.6	+	11	9720_9722	c.9609_9611delAAC	c.(9607-9612)ata>at	p.IT3203del	ALMS1_ENST00000409009.1_In_Frame_Del_p.IT3161del	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3203					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTCAGATAACAACAGAAAGT	0.384													12	42	---	---	---	---					
EPC2	26122	broad.mit.edu	37	2	149539217	149539218	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:149539217_149539218delAG	ENST00000258484.6	+	11	1759_1760	c.1725_1726delAG	c.(1723-1728)acggfs	p.TG575fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	575					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TACCAGTAACAGGGGGTATCAC	0.376													16	32	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)gccfs	p.A48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													12	1105	---	---	---	---					
SKIV2L2	23517	broad.mit.edu	37	5	54706365	54706367	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:54706365_54706367delCTT	ENST00000230640.5	+	23	2913_2915	c.2659_2661delCTT	c.(2659-2661)del	p.L888del	SKIV2L2_ENST00000545714.1_In_Frame_Del_p.L787del	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	888					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGATGAGCTCCTTCTAACTGAGA	0.350													31	105	---	---	---	---					
IPO11	51194	broad.mit.edu	37	5	61779947	61779949	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:61779947_61779949delGAA	ENST00000325324.6	+	11	1301_1303	c.1132_1134delGAA	c.(1132-1134)del	p.E380del	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_In_Frame_Del_p.E420del	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	380						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCTATTAACTGAAGAAGAACTGA	0.330													18	43	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589550	67589552	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589550_67589552delAAG	ENST00000521381.1	+	11	1929_1931	c.1313_1315delAAG	c.(1312-1317)aaa>a	p.KE438del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.KE438del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.KE75del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KE438del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KE438del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KE138del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KE168del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	438					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAGTTGTCAAAGAAGATAATAT	0.266			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			10	26	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589624	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589623_67589624delAT	ENST00000521381.1	+	11	2002_2003	c.1386_1387delAT	c.(1384-1389)gaatfs	p.EY462fs	PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.EY99fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.EY462fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.EY162fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.EY192fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	462					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.0?(1)|p.?(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATT	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			17	37	---	---	---	---					
TCP1	6950	broad.mit.edu	37	6	160201521	160201523	+	In_Frame_Del	DEL	CTT	CTT	-	rs147802495		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:160201521_160201523delCTT	ENST00000321394.7	-	9	1329_1331	c.1049_1051delAAG	c.(1048-1053)gtg>g	p.EV350del	TCP1_ENST00000392168.2_In_Frame_Del_p.EV195del|TCP1_ENST00000420894.2_In_Frame_Del_p.EV350del|TCP1_ENST00000544255.1_In_Frame_Del_p.EV126del	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	350					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCTGTACCACTTCTTCTGCCTG	0.365													20	121	---	---	---	---					
AEBP1	165	broad.mit.edu	37	7	44152194	44152196	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:44152194_44152196delAGA	ENST00000223357.3	+	18	2560_2562	c.2255_2257delAGA	c.(2254-2259)gag>g	p.EK752del	AEBP1_ENST00000450684.2_In_Frame_Del_p.EK327del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	752	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCTGGATGGAGAAGAACCCCTT	0.640													11	133	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													9	19	---	---	---	---					
ZHX2	22882	broad.mit.edu	37	8	123965332	123965333	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:123965332_123965333delTT	ENST00000314393.4	+	3	2417_2418	c.1582_1583delTT	c.(1582-1584)tfs	p.F528fs		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	528						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTACCCAGACTTTGCCCCCCAG	0.515													17	121	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)tac>t	p.FY357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			12	44	---	---	---	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:105048271_105048273delGAG	ENST00000369849.4	+	3	1394_1396	c.1345_1347delGAG	c.(1345-1347)del	p.E454del		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													8	134	---	---	---	---					
RAD9A	5883	broad.mit.edu	37	11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:67163284_67163286delGAG	ENST00000307980.2	+	6	640_642	c.547_549delGAG	c.(547-549)del	p.E185del	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGCTACCACGAGGAGGAGGCAG	0.660								Other conserved DNA damage response genes					18	54	---	---	---	---					
PCNX	22990	broad.mit.edu	37	14	71443705	71443707	+	In_Frame_Del	DEL	CTT	CTT	-	rs147408993	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr14:71443705_71443707delCTT	ENST00000304743.2	+	6	1097_1099	c.651_653delCTT	c.(649-654)tcc>tc	p.SF217del	PCNX_ENST00000238570.5_In_Frame_Del_p.SF217del|PCNX_ENST00000439984.3_In_Frame_Del_p.SF217del	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	217						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAATGACTCCTTCATCTCTATT	0.414													7	113	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43045062	43045066	+	Frame_Shift_Del	DEL	ACTTA	ACTTA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:43045062_43045066delACTTA	ENST00000267890.6	-	14	2486_2490	c.2378_2382delTAAGT	c.(2377-2382)tfs	p.LS793fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	793					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCTGCCCTCTACTTAACTTCTCATC	0.400													27	85	---	---	---	---					
IREB2	3658	broad.mit.edu	37	15	78764190	78764192	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:78764190_78764192delCCT	ENST00000258886.8	+	7	956_958	c.807_809delCCT	c.(805-810)gac>ga	p.DL269del	IREB2_ENST00000560440.1_In_Frame_Del_p.DL269del	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	269							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGAAAAAGACCTCCTCTTCCCA	0.399													20	54	---	---	---	---					
MT1L	4500	broad.mit.edu	37	16	56652490	56652490	+	RNA	DEL	T	T	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr16:56652490delT	ENST00000565768.1	+	0	181					NR_001447.2				metallothionein 1L (gene/pseudogene)																		TCACTCTCCCTTTTCCCCCAG	0.607													7	479	---	---	---	---					
ACADVL	37	broad.mit.edu	37	17	7125570	7125572	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7125570_7125572delAGG	ENST00000356839.5	+	9	1006_1008	c.827_829delAGG	c.(826-831)aag>a	p.KE276del	ACADVL_ENST00000350303.5_In_Frame_Del_p.KE254del|ACADVL_ENST00000543245.2_In_Frame_Del_p.KE299del	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	276	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGAGCCGTGAAGGAGAAGATCAC	0.552													25	75	---	---	---	---					
RP11-1055B8.7	0	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)ccc>cc	p.PS2406del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.690													2	4	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													5	10	---	---	---	---					
TSHZ1	10194	broad.mit.edu	37	18	72997649	72997651	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr18:72997649_72997651delAGA	ENST00000322038.5	+	2	736_738	c.152_154delAGA	c.(151-156)gag>g	p.EK51del	TSHZ1_ENST00000580243.1_In_Frame_Del_p.EK96del	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTCGAGAAGAGAAGGAGGATCC	0.586													14	32	---	---	---	---					
EID2B	126272	broad.mit.edu	37	19	40023078	40023081	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40023078_40023081delACAA	ENST00000326282.4	-	1	413_416	c.362_365delTTGT	c.(361-366)tgfs	p.FV121fs	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	121					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCTTCCACAAACAGCCTGCG	0.574													18	45	---	---	---	---					
TRIM28	10155	broad.mit.edu	37	19	59061018	59061021	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:59061018_59061021delGTGA	ENST00000253024.5	+	13	2271		c.e13+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTACCAGGGTGAGTGTGAGGCT	0.574													87	141	---	---	---	---					
PAGE1	8712	broad.mit.edu	37	X	49458759	49458760	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:49458759_49458760delTT	ENST00000376150.3	-	3	240_241	c.108_109delAA	c.(106-111)cagtfs	p.QS36fs		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	36					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GAATCCTGACTTTGAGTTGGTG	0.460													9	13	---	---	---	---					
