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
OR52N2	390077	broad.mit.edu	37	11	5841699	5841699	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5841699G>C	ENST00000317037.2	+	1	156	c.134G>C	c.(133-135)tGt>tCt	p.C45S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGAACTGTGGGCTCATC	0.547000													20	61					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					intracellular transport		binding	p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000													6	269					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79277481	79277481	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:79277481G>A	ENST00000419573.3	-	24	3604	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000558480.2_Silent_p.I1094I|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.I326I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1112	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCACTTCTCGATGGCGCTCA	0.517000													26	128					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48337056	48337056	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:48337056A>G	ENST00000019019.2	+	5	672	c.243A>G	c.(241-243)ccA>ccG	p.P81P	FTSJ1_ENST00000456787.1_Silent_p.P81P|FTSJ1_ENST00000348411.2_Silent_p.P81P|FTSJ1_ENST00000396894.4_Intron	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	81					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CTATGGCTCCACTACCAGGTG	0.617000													5	22					0	0	1	0	0
GPR22	0	broad.mit.edu	37	7	107114948	107114948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:107114948C>A	ENST00000304402.4	+	3	1786	c.443C>A	c.(442-444)gCa>gAa	p.A148E	COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	148						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTAAAACCTGCAAACCGAATT	0.358000													32	107					5.04308e-16	5.38383e-16	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56246388	56246388	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr18:56246388C>T	ENST00000361673.3	-	4	1833	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTTCATTCCCGGCTGCCTCA	0.542000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	180					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149864511	149864511	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:149864511G>A	ENST00000435030.1	+	23	2848	c.2480G>A	c.(2479-2481)aGt>aAt	p.S827N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S732N|KIF5C_ENST00000397413.1_Missense_Mutation_p.S595N			O60282	KIF5C_HUMAN	kinesin family member 5C	827					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGGGGCAGTGCTGCCCAG	0.557000													3	84					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755664	39755664	+	Silent	SNP	G	G	A	rs143039786		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:39755664G>A	ENST00000442448.1	-	11	1321	c.1050C>T	c.(1048-1050)cgC>cgT	p.R350R	ERG_ENST00000398911.1_Silent_p.R350R|ERG_ENST00000398910.1_Silent_p.R351R|ERG_ENST00000288319.7_Silent_p.R367R|ERG_ENST00000398897.1_Silent_p.R251R|ERG_ENST00000417133.2_Silent_p.R374R|ERG_ENST00000453032.2_Silent_p.R275R|ERG_ENST00000398919.2_Silent_p.R374R|ERG_ENST00000398905.1_Silent_p.R343R|ERG_ENST00000398907.1_Silent_p.R344R	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	374					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACGGAGGGCGCGGCTGAGCT	0.592000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								30	80					0	0	1	0	0
EZH2	0	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:148512600T>C	ENST00000320356.2	-	13	1665	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	EZH2_ENST00000460911.1_Missense_Mutation_p.K510R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368000			Mis		DLBCL								4	159					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3428747	3428747	+	RNA	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:3428747C>T	ENST00000529482.1	+	0	1864																											GTTCCAACCCCCAGCCTGGCT	0.597000													2	2					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906225	5906225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5906225C>T	ENST00000316987.2	+	1	725	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAGATGTCCGACTAAAGGC	0.398000													51	121					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39795452	39795452	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:39795452C>G	ENST00000373272.2	+	19	2659	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	PLCG1_ENST00000244007.3_Missense_Mutation_p.L752V|PLCG1_ENST00000373271.1_Missense_Mutation_p.L752V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAAGATGAAGCTGCGCTATCC	0.572000													3	129					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263306	263306	+	Silent	SNP	C	C	T	rs111797689		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:263306C>T	ENST00000360127.6	+	2	688	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.697000													3	35					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535209	96535209	+	Missense_Mutation	SNP	C	C	T	rs149590953		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96535209C>T	ENST00000371321.3	+	3	476	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CATGACGCTGCGGAATTTTGG	0.507000													40	57					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:154863096G>C	ENST00000287907.2	+	1	1063	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627000													19	79					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521374	40521374	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:40521374C>T	ENST00000347077.4	+	7	2413	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	ZNF546_ENST00000600094.1_Missense_Mutation_p.R707W|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTAGTCGTCGGTATCATCT	0.378000													4	101					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000251968.3_Missense_Mutation_p.K265R|TSG101_ENST00000357193.3_Missense_Mutation_p.K160R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438000													5	284					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68894308	68894308	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr16:68894308G>T	ENST00000261778.1	+	2	628	c.616G>T	c.(616-618)Gct>Tct	p.A206S		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TCTGAATGTTGCTCAGCACAC	0.517000													54	200					3.57465e-26	3.86845e-26	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837725	12837725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12837725C>T	ENST00000357726.4	+	3	1462	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCTGTCAGGGTGGATT	0.507000													21	51					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939167	14939167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:14939167T>C	ENST00000285046.5	+	5	3010	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	FGD5_ENST00000543601.1_Missense_Mutation_p.L726P|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	967	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAAAGGCTGTCAAATTGG	0.547000													5	14					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818194	96818194	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96818194A>G	ENST00000371270.3	-	5	811	c.717T>C	c.(715-717)ctT>ctC	p.L239L	CYP2C8_ENST00000539050.1_Silent_p.L153L|CYP2C8_ENST00000535898.1_Silent_p.L137L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	239					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AACTTCGTGTAAGAGCAACAT	0.363000													11	17					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	89016587	89016587	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:89016587G>A	ENST00000556564.1	-	2	459	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.R59W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	59	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTACCTCCCGCAGCTCCAGC	0.607000													3	81					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750028	234750028	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:234750028C>G	ENST00000411486.2	-	8	1463	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	HJURP_ENST00000441687.1_Missense_Mutation_p.M381I|HJURP_ENST00000432087.1_Missense_Mutation_p.M412I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	466					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCCCTCTGTACATGTTCATGG	0.532000													40	71					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138530972	138530972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr9:138530972C>T	ENST00000371763.1	-	2	315	c.62G>A	c.(61-63)cGt>cAt	p.R21H		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	21					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGAAATAACGCTCAACCAA	0.264000													6	49					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892601	166892601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:166892601G>A	ENST00000423058.2	-	16	3403	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	SCN1A_ENST00000375405.3_Missense_Mutation_p.T1118M|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T1129M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1101M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGTCTTCCGTGTTTAAATT	0.343000													39	140					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171457	68171457	+	Missense_Mutation	SNP	G	G	A	rs147750704		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:68171457G>A	ENST00000243457.3	+	2	660	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V93I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCTGGCTTTCGTCCTGTCATG	0.537000													36	116					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315252	30315252	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:30315252G>A	ENST00000375377.1	-	3	3926	c.3825C>T	c.(3823-3825)agC>agT	p.S1275S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1275										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATTCCTGAAGCTCAGGACTC	0.612000													15	28					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583644	82583644	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:82583644C>A	ENST00000423517.2	-	5	6962	c.6625G>T	c.(6625-6627)Gtt>Ttt	p.V2209F	PCLO_ENST00000333891.8_Missense_Mutation_p.V2209F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2140					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGTATAAACTGTGGTTATG	0.413000													11	49					7.03913e-09	7.22196e-09	1	1	0
IGFL2	147920	broad.mit.edu	37	19	46664038	46664038	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:46664038C>G	ENST00000434646.2	+	4	565	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.L81V	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	81						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527000													71	242					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50459521	50459521	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:50459521C>T	ENST00000331340.3	+	7	965	c.810C>T	c.(808-810)aaC>aaT	p.N270N	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.N183N|IKZF1_ENST00000359197.5_Silent_p.N228N|IKZF1_ENST00000343574.5_Silent_p.N183N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Silent_p.N228N|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	270					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGCAAGTAACGTCGCCAAAC	0.393000			"""D,T"""	BCL6	"""ALL, DLBCL"""								8	32					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530632	5530632	+	Missense_Mutation	SNP	G	G	A	rs143866662		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5530632G>A	ENST00000311659.4	-	2	304	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTAAAGCGCTGAGATATC	0.507000													50	135					0	0	1	0	0
ZNF195	0	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:3380678C>T	ENST00000354599.6	-	4	1448	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403000													4	173					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	30					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786902	127786902	+	Splice_Site	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:127786902G>A	ENST00000243253.3	+	11	1428	c.1244_splice	c.e11+1	p.R415_splice	SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Splice_Site_p.R421_splice|SEC61A1_ENST00000424880.2_Splice_Site_p.R295_splice	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	415					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.R415Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GAACTCAACCGGTGAGTGGTG	0.577000											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	77					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726320	12726320	+	Silent	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12726320C>A	ENST00000376221.1	+	4	798	c.798C>A	c.(796-798)gcC>gcA	p.A266A		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCGTGACGCCATCTTGAACG	0.502000													4	150					0.00909568	0.00909568	1	1	0
NAT2	10	broad.mit.edu	37	8	18257611	18257611	+	Missense_Mutation	SNP	G	G	A	rs138592670		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr8:18257611G>A	ENST00000286479.3	+	2	205	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	33					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CACCAGATCCGGGCTGTTCCC	0.423000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				42	139					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921630	78921630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:78921630G>T	ENST00000261751.3	-	5	1128	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	339					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TAGGCAGCTTGTGCAGGAAGC	0.642000													13	33					0.00010058	0.000101869	1	1	0
HAS1	3036	broad.mit.edu	37	19	52220447	52220447	+	Splice_Site	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:52220447C>T	ENST00000540069.2	-	3	760		c.e3-1		HAS1_ENST00000601714.1_Splice_Site|HAS1_ENST00000594621.1_Splice_Site|HAS1_ENST00000222115.1_Splice_Site			Q92839	HAS1_HUMAN	hyaluronan synthase 1						cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCACAGACCTGTAAGGTGG	0.622000													10	40					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039239	207039239	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:207039239G>A	ENST00000367098.1	+	2	405	c.42G>A	c.(40-42)gcG>gcA	p.A14A	IL20_ENST00000391930.2_Silent_p.A14A|IL20_ENST00000367096.3_Silent_p.A14A			Q9NYY1	IL20_HUMAN	interleukin 20	14					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCTGCTGCGTTTTATCTCC	0.458000													17	59					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687000													14	48					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16372121	16372121	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16372121G>A	ENST00000375679.4	+	3	280	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCCTCGGGGTGCTCAT	0.637000													17	75					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48173432	48173432	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:48173432G>C	ENST00000381501.3	-	4	435	c.278C>G	c.(277-279)gCa>gGa	p.A93G		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	93	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACTAGGTGCAAAAATGTA	0.353000													18	67					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180047927	180047927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:180047927C>T	ENST00000261937.6	-	15	2326	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	FLT4_ENST00000393347.3_Missense_Mutation_p.V750M|FLT4_ENST00000502649.1_Missense_Mutation_p.V750M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	750	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTGCACACGCTGCACAGA	0.657000													4	18					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr22:18778601C>T	ENST00000412448.1	-	0	804																											GCTTGGCATCCGCGGCCACGG	0.627000													3	35					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76101273	76101273	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:76101273A>G	ENST00000238667.4	+	5	1397	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Silent_p.G62G|FLVCR2_ENST00000539311.1_Silent_p.G142G|FLVCR2_ENST00000553587.1_Silent_p.G95G	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	347					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527000													3	27					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30723918	30723918	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:30723918A>G	ENST00000217315.5	+	3	460	c.120A>G	c.(118-120)gaA>gaG	p.E40E	TM9SF4_ENST00000398022.2_Silent_p.E57E			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	57						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTTATGAATACTATTCAC	0.512000													21	78					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703516	198703516	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:198703516G>C	ENST00000367376.2	+	22	2404	c.2233G>C	c.(2233-2235)Gtt>Ctt	p.V745L	PTPRC_ENST00000442510.2_Missense_Mutation_p.V747L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V584L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V697L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V586L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	745	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAGCCACAGTTATTGTCAT	0.408000													91	299					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3061202	3061202	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:3061202G>A	ENST00000221561.8	-	2	461	c.282C>T	c.(280-282)gaC>gaT	p.D94D	AES_ENST00000327141.4_Silent_p.D27D|AES_ENST00000586839.1_5'UTR|AES_ENST00000592330.1_5'UTR	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	27	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGATGCGGTCGCAGGAGT	0.627000													4	202					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4088255	4088255	+	Silent	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:4088255C>G	ENST00000341657.4	-	12	1592	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	ANKFY1_ENST00000570535.1_Silent_p.L561L|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L519L|ANKFY1_ENST00000573722.1_5'UTR	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	519						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCGTCTGCAGGTTTGGGT	0.622000													12	54					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136967	8136967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:8136967C>A	ENST00000600128.1	-	63	8467	c.8053G>T	c.(8053-8055)Gac>Tac	p.D2685Y	FBN3_ENST00000601739.1_Missense_Mutation_p.D2685Y|FBN3_ENST00000270509.2_Missense_Mutation_p.D2685Y			Q75N90	FBN3_HUMAN	fibrillin 3	2685						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGGCCGGTCCCGAGGGGAG	0.642000													29	100					4.4194e-11	4.59385e-11	1	1	0
SLC35F3	148641	broad.mit.edu	37	1	234454541	234454541	+	Silent	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:234454541C>T	ENST00000366618.3	+	6	1144	c.999C>T	c.(997-999)gcC>gcT	p.A333A	SLC35F3_ENST00000366617.3_Silent_p.A264A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	264					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTGGAGAAGCCGCCTTATTTT	0.468000													5	112					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798156	38798156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:38798156C>T	ENST00000308979.2	-	4	2570	c.2297G>A	c.(2296-2298)gGc>gAc	p.G766D	TLR1_ENST00000502213.2_Missense_Mutation_p.G766D	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	766	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCAAAAAAGGCCACGTTTGCT	0.423000													13	30					0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263322	263322	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:263322G>A	ENST00000360127.6	+	2	704	c.688G>A	c.(688-690)Gag>Aag	p.E230K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	230	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.716000													3	37					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160849160	160849160	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160849160C>T	ENST00000326245.3	-	7	845	c.730G>A	c.(730-732)Gag>Aag	p.E244K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	244	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTCTCTCGTTATTAAAT	0.488000													27	86					0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87322565	87322565	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:87322565G>T	ENST00000350375.2	-	2	270	c.146C>A	c.(145-147)aCa>aAa	p.T49K	POU1F1_ENST00000560656.1_Missense_Mutation_p.T49K|POU1F1_ENST00000344265.3_Missense_Mutation_p.T75K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	49					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGAAGTCCTGTTGCTGTGTT	0.383000													12	57					4.14922e-12	4.37051e-12	1	1	0
ADD2	119	broad.mit.edu	37	2	70904917	70904917	+	Silent	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:70904917G>C	ENST00000264436.3	-	12	1920	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	ADD2_ENST00000355733.3_Silent_p.P492P|ADD2_ENST00000430656.1_Silent_p.P508P|ADD2_ENST00000413157.2_Silent_p.P492P|ADD2_ENST00000407644.2_Silent_p.P492P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	492					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTACTTCCTGGGGGTCAGTAT	0.522000													15	55					0	0	1	0	0
LILRA3	0	broad.mit.edu	37	19	54802564	54802564	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:54802564C>T	ENST00000391745.1	-	9	1244	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	LILRA3_ENST00000251390.3_Missense_Mutation_p.G293S|LILRA3_ENST00000391744.3_Missense_Mutation_p.G229S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTACTGGCCCCCGTAGGAG	0.682000													28	64					0	0	1	0	0
MB21D1	115004	broad.mit.edu	37	6	74135195	74135195	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr6:74135195A>C	ENST00000370315.3	-	5	1418	c.1324T>G	c.(1324-1326)Ttc>Gtc	p.F442V	MB21D1_ENST00000370318.1_Missense_Mutation_p.F442V	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	442										central_nervous_system(1)|large_intestine(4)|lung(1)	6						ACGTGAAAGAAGGCAGTTTTC	0.393000													11	28					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6472559	6472559	+	Missense_Mutation	SNP	G	G	A	rs148006210	byFrequency	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:6472559G>A	ENST00000297056.6	-	5	879	c.710C>T	c.(709-711)gCg>gTg	p.A237V	DAGLB_ENST00000421761.2_Missense_Mutation_p.R24W|DAGLB_ENST00000428902.2_Missense_Mutation_p.A110V|DAGLB_ENST00000436575.1_Missense_Mutation_p.A196V|DAGLB_ENST00000425398.2_Missense_Mutation_p.R151W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	237					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCGAGGCCCGCCGCAATGTC	0.602000													3	54					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64752492	64752492	+	Silent	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:64752492T>C	ENST00000374811.3	-	3	421	c.381A>G	c.(379-381)tcA>tcG	p.S127S	LAS1L_ENST00000374807.5_Silent_p.S127S|LAS1L_ENST00000374804.5_Silent_p.S85S|LAS1L_ENST00000312391.8_Silent_p.S127S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	127						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCTTCCTCTCTGAGATAAGAT	0.463000													22	57					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176838145	176838145	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:176838145T>C	ENST00000367654.2	-	22	3519	c.3506A>G	c.(3505-3507)tAc>tGc	p.Y1169C	ASTN1_ENST00000424564.2_Missense_Mutation_p.Y1161C|ASTN1_ENST00000361833.2_Missense_Mutation_p.Y1161C|ASTN1_ENST00000367657.3_Missense_Mutation_p.Y1161C			O14525	ASTN1_HUMAN	astrotactin 1	1169					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGAGATTGTAGATCTTGTC	0.403000													24	70					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225706962	225706962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:225706962C>T	ENST00000366844.2	-	5	1191	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ENAH_ENST00000284563.6_Missense_Mutation_p.R266Q|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.R247Q	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	247					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTGCTCTTGTCGCTCCCTTTC	0.517000													107	261					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61719740	61719740	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:61719740C>T	ENST00000401558.2	-	14	2255	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	XPO1_ENST00000404992.2_Missense_Mutation_p.E510K|XPO1_ENST00000406957.1_Missense_Mutation_p.E510K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	510	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCGTCCTCTTCATGCATTGCT	0.348000			Mis		CLL								3	57					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557000													5	314					0	0	1	0	0
AVPR1A	0	broad.mit.edu	37	12	63543919	63543919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:63543919C>T	ENST00000299178.2	-	1	803	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	233					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTAGCAGGTACCCAAGATGAC	0.642000													37	90					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093068	160093069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160093068_160093069insC	ENST00000361216.3	+	4	332_333	c.243_244insC	c.(241-246)ccccacfs	p.H82fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.H82fs|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	82	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACACCACCTCCCACAACCCC	0.629													60	238	---	---	---	---					
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)agc>a	p.TS152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537													7	457	---	---	---	---					
RP11-340I6.7	0	broad.mit.edu	37	7	63354630	63354630	+	RNA	DEL	T	T	-			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:63354630delT	ENST00000587736.1	-	0	566																											ACTATGACAGTTTTTGCTAGA	0.433													27	124	---	---	---	---					
PAH	5053	broad.mit.edu	37	12	103249024	103249025	+	Frame_Shift_Ins	INS	-	-	C	rs63749676		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:103249024_103249025insC	ENST00000553106.1	-	6	1067_1068	c.595_596insG	c.(595-597)aacfs	p.N199fs	PAH_ENST00000307000.2_Frame_Shift_Ins_p.N194fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	199					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGCATGGGTTTTATACAAGGAC	0.446													8	65	---	---	---	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)del	p.C121del	PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													8	105	---	---	---	---