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
SLC45A1	50651	broad.mit.edu	37	1	8390537	8390537	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:8390537G>A	uc001apb.3	+	3	984	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC45A1_uc001apc.3_Silent_p.S26S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	328					carbohydrate transport	integral to membrane	symporter activity	p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGTCGCACACGGCCA	0.697												
KLHDC7A	127707	broad.mit.edu	37	1	18809465	18809465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:18809465G>A	uc001bax.3	+	0	2042	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.G446S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	664						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCGGGGGCAGCAAGGA	0.682												
FAM54B	56181	broad.mit.edu	37	1	26156090	26156090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:26156090C>T	uc010oet.2	+	5	775	c.641C>T	c.(640-642)aCa>aTa	p.T214I	FAM54B_uc001bkq.4_Missense_Mutation_p.T181I|FAM54B_uc001bkr.4_Intron|FAM54B_uc009vrz.3_Missense_Mutation_p.T166I|FAM54B_uc001bks.4_Missense_Mutation_p.T181I|FAM54B_uc001bkt.4_Missense_Mutation_p.T181I|FAM54B_uc001bku.4_Intron|FAM54B_uc001bkv.4_Missense_Mutation_p.T84I			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	181										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCACTCTACAACTTCCTTT	0.478												
CYB5RL	606495	broad.mit.edu	37	1	54653374	54653374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:54653374G>A	uc009vzo.3	-	4	706	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	129	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTGATGGGCGTATAGGCTCT	0.483												
TCHH	7062	broad.mit.edu	37	1	152081632	152081632	+	Missense_Mutation	SNP	C	C	T	rs2496251		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:152081632C>T	uc009wne.1	-	2	4333	c.4061G>A	c.(4060-4062)cGc>cAc	p.R1354H	TCHH_uc001ezp.2_Missense_Mutation_p.R1354H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1354	23 X 26 AA approximate tandem repeats.			R -> L (in Ref. 1; AAA65582).	keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGCGGCGCAGCGGCTG	0.567												
RYR2	6262	broad.mit.edu	37	1	237608770	237608770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:237608770C>T	uc001hyl.1	+	13	1360	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	414			R -> L (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGAATCACGCACAGCCCG	0.393												
PTEN	5728	broad.mit.edu	37	10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-	rs121913291		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr10:89720812delA	uc001kfb.3	+	7	1995	c.963delA	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACTTTAACAAAAAATGATC	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MMP26	56547	broad.mit.edu	37	11	5013297	5013297	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:5013297C>T	uc001lzv.3	+	4	717	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	233					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACTGGTATCACGACCCTAGAA	0.488												
OR52L1	338751	broad.mit.edu	37	11	6007615	6007615	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:6007615T>C	uc001mcd.2	-	0	601	c.546A>G	c.(544-546)ggA>ggG	p.G182G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAAGTTTTCCCAACAAAA	0.488												
MAP4K2	5871	broad.mit.edu	37	11	64568434	64568434	+	Silent	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:64568434C>G	uc001obh.3	-	8	692	c.600G>C	c.(598-600)ctG>ctC	p.L200L	MAP4K2_uc001obi.3_Silent_p.L200L	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	200	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGTGATGCCCAGGGCCCAGA	0.622												
RPL13AP20	387841	broad.mit.edu	37	12	13028632	13028632	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:13028632C>A	uc010sho.2	+	0	222	c.200C>A	c.(199-201)tCc>tAc	p.S67Y						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		AGCAACCCTTCCCGAGGCCCC	0.582												
PTPRB	5787	broad.mit.edu	37	12	70986066	70986066	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:70986066T>G	uc001swb.4	-	4	1152	c.1122A>C	c.(1120-1122)agA>agC	p.R374S	PTPRB_uc010sto.2_Missense_Mutation_p.R374S|PTPRB_uc010stp.2_Missense_Mutation_p.R374S|PTPRB_uc001swc.4_Missense_Mutation_p.R592S|PTPRB_uc001swa.4_Missense_Mutation_p.R592S|PTPRB_uc001swd.4_Missense_Mutation_p.R591S|PTPRB_uc009zrr.2_Missense_Mutation_p.R471S|PTPRB_uc001swe.3_Missense_Mutation_p.R592S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	374	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACATGTTCTGCCCACTG	0.448												
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642												
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
OR4K5	79317	broad.mit.edu	37	14	20389501	20389501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr14:20389501delG	uc010tkw.2	+	0	736	c.736delG	c.(736-738)gtafs	p.V246fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATTGCAGTAGTAATATT	0.398												
HERC2P3	283755	broad.mit.edu	37	15	20649664	20649664	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:20649664A>G	uc001ytg.3	-	17	2554	c.1845T>C	c.(1843-1845)ccT>ccC	p.P615P	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.P615P|HERC2P3_uc010tyy.2_Silent_p.P615P					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.R614M(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCCTGGAGGAGGCCTATCCT	0.577												
GOLGA6D	653643	broad.mit.edu	37	15	75580661	75580661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:75580661C>T	uc010uma.2	+	6	555	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	174										kidney(1)|lung(1)	2						AGAATTGGAGCGGGCTCTCTG	0.552												
DECR2	26063	broad.mit.edu	37	16	455001	455001	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:455001C>G	uc002chb.3	+	1	232	c.126C>G	c.(124-126)ttC>ttG	p.F42L	DECR2_uc021szq.1_Missense_Mutation_p.F42L|DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_5'Flank	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	42						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGATTGGGTTCCGGATTGCTG	0.582												
ITGAM	3684	broad.mit.edu	37	16	31284722	31284722	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31284722G>A	uc002ebr.3	+	7	839	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ITGAM_uc002ebq.3_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	247	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCGAAAGAATGCCTTTA	0.453												
ITGAM	3684	broad.mit.edu	37	16	31286937	31286937	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31286937G>A	uc002ebr.3	+	8	1024	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ITGAM_uc002ebq.3_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	309	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGCCTCGTGATCACGTG	0.512												
ATP2A3	489	broad.mit.edu	37	17	3850757	3850757	+	Silent	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:3850757G>T	uc002fwy.2	-	7	1196	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	341					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647												
TP53	7157	broad.mit.edu	37	17	7576926	7576927	+	Splice_Site	DNP	GC	GC	AT			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:7576926_7576927GC>AT	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).		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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)		GTTGGGCAGTGCTAGGAAAGAG	0.490		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)		
MYH8	4626	broad.mit.edu	37	17	10315706	10315706	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:10315706G>A	uc002gmm.2	-	13	1492	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	466	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCAAAGCCAGCAATGTCCAA	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
ACSF2	80221	broad.mit.edu	37	17	48540562	48540562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:48540562A>G	uc010wmm.1	+	7	1017	c.913A>G	c.(913-915)Att>Gtt	p.I305V	ACSF2_uc002iqu.2_Missense_Mutation_p.I280V|ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	280					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACTACAACATTGTCAACAA	0.597												
RAVER1	125950	broad.mit.edu	37	19	10434237	10434237	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr19:10434237C>T	uc002moa.3	-	3	893	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	254	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTGGCCGCACGCCAGCTGCC	0.652												
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483												
SLC5A7	60482	broad.mit.edu	37	2	108626770	108626770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:108626770C>T	uc002tdv.3	+	8	1472	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SLC5A7_uc010ywm.2_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.3_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.2_Missense_Mutation_p.T286M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCCTTGCTGACGAAAACTGTG	0.463												
LRP2	4036	broad.mit.edu	37	2	170007505	170007505	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:170007505G>A	uc002ues.3	-	67	12706	c.12493C>T	c.(12493-12495)Cgc>Tgc	p.R4165C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4165					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4165C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCTCAATGCGTTTATTCTTG	0.428												
TTN	7273	broad.mit.edu	37	2	179498764	179498764	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:179498764T>C	uc021vsy.1	-	179	34983	c.34758A>G	c.(34756-34758)aaA>aaG	p.K11586K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5281K|TTN_uc021vta.1_Silent_p.K5214K|TTN_uc021vtb.1_Silent_p.K5089K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12513	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACCTTCTTTTACTGTTT	0.358												
DNAJC10	54431	broad.mit.edu	37	2	183584858	183584858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:183584858G>A	uc002uow.1	+	3	744	c.329G>A	c.(328-330)gGc>gAc	p.G110D	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	110					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCAAGGTGGCCAGTATGAA	0.308												
TNS1	7145	broad.mit.edu	37	2	218712554	218712554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:218712554G>A	uc002vgt.2	-	16	2709	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	771						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCAACGAATGCCCACTGGGG	0.607												
ABCB6	10058	broad.mit.edu	37	2	220080773	220080773	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:220080773C>T	uc002vkc.2	-	4	2879	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ABCB6_uc010fwe.2_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	367	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCCCCTGTGCGGCG	0.672												
ITSN1	6453	broad.mit.edu	37	21	35230998	35230998	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:35230998A>G	uc002yta.1	+	30	4060	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1264	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.Q1264K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATTTTTCAAAAACCCCTGA	0.428												
UMODL1	89766	broad.mit.edu	37	21	43524017	43524017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:43524017C>T	uc002zag.1	+	8	1339	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	447	SEA 1.		R -> Q.			cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGACTTGTACCGAAGTGGGAA	0.562												
KRTAP10-3	386682	broad.mit.edu	37	21	45978434	45978434	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:45978434G>A	uc002zfj.1	-	0	210	c.165C>T	c.(163-165)agC>agT	p.S55S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	55	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCAGGGGCTGGACACAC	0.711												
LZTR1	8216	broad.mit.edu	37	22	21351542	21351542	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr22:21351542C>T	uc002zto.3	+	20	2531	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	LZTR1_uc002ztn.3_Missense_Mutation_p.R769W|LZTR1_uc011ahy.2_Missense_Mutation_p.R791W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	810					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R810W(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCCACCCTGCGGTCGCTGAG	0.642												
KDR	3791	broad.mit.edu	37	4	55976857	55976857	+	Missense_Mutation	SNP	G	G	A	rs151317075	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:55976857G>A	uc003has.3	-	7	1357	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.2_Missense_Mutation_p.A352V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	352	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A352V(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGTACTTCGCAGGGATTCT	0.413			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
TMPRSS11A	339967	broad.mit.edu	37	4	68784698	68784698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:68784698delG	uc003hdr.1	-	7	1075	c.954delC	c.(952-954)tacfs	p.Y318fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	318	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CACCACCATAGTAAAGTGCTC	0.453												
UGT2B11	10720	broad.mit.edu	37	4	70079996	70079996	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70079996A>G	uc003heh.3	-	0	454	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	149					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCTGCAAAAACGATGTCA	0.383												
UGT2B28	54490	broad.mit.edu	37	4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70156481C>T	uc003hej.3	+	4	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	421					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S421L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CACACAATGTCGAGTACAGAC	0.423												
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:104511030C>T	uc003hxe.1	-	4	1348	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498												
NADKD1	133686	broad.mit.edu	37	5	36197710	36197710	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:36197710A>T	uc003jkf.4	-	10	1123	c.1123T>A	c.(1123-1125)Ttc>Atc	p.F375I	NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_Missense_Mutation_p.F180I|NADKD1_uc003jkg.4_Missense_Mutation_p.F212I|NADKD1_uc011cov.2_Missense_Mutation_p.F234I	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	375							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						CGAATACTGAAAAGTATTTTT	0.353												
ADAMTS19	171019	broad.mit.edu	37	5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:129037232C>T	uc003kvb.1	+	19	3088	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1030	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1030H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592												
SLC22A5	6584	broad.mit.edu	37	5	131728210	131728210	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:131728210C>T	uc003kwx.4	+	8	1689	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SLC22A5_uc003kww.4_Silent_p.A451A|SLC22A5_uc010jdr.1_Silent_p.A71A	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	451					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTACACAGCCGAGCTGTATC	0.532												
ZNF76	7629	broad.mit.edu	37	6	35255444	35255444	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:35255444T>C	uc003oki.1	+	4	459	c.254T>C	c.(253-255)cTg>cCg	p.L85P	ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.2_Missense_Mutation_p.L85P	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	85	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCAGCACCCTGGAAGCCGTC	0.577												
DAAM2	23500	broad.mit.edu	37	6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:39864627G>A	uc003oow.3	+	19	2520	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	DAAM2_uc003oox.3_Missense_Mutation_p.R794H	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	794	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612												
PRPH2	5961	broad.mit.edu	37	6	42672106	42672106	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:42672106G>A	uc003osk.3	-	1	1111	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	275					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCCTACCTCGAAGAGCCAAA	0.627												
KHDRBS2	202559	broad.mit.edu	37	6	62995779	62995779	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:62995779C>T	uc003peg.2	-	0	322	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.A24V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567												
SASH1	23328	broad.mit.edu	37	6	148840740	148840740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:148840740A>G	uc003qme.1	+	9	1395	c.920A>G	c.(919-921)tAc>tGc	p.Y307C	SASH1_uc011eeb.1_Missense_Mutation_p.Y68C	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	307							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCGCCCTCTACTCTGGCGTG	0.552												
PKD1L1	168507	broad.mit.edu	37	7	47835588	47835588	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:47835588T>C	uc003tny.2	-	55	8389	c.8355_splice	c.e55+1	p.H2785_splice	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2785					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						ACAGCTTACGTGATTCTCAAC	0.413												
MLL3	58508	broad.mit.edu	37	7	151960173	151960173	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:151960173A>G	uc003wla.3	-	8	1446	c.1227T>C	c.(1225-1227)tgT>tgC	p.C409C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	409					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T408M(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTTTGTCACACGTATCAC	0.308			N		medulloblastoma							
RIMS2	9699	broad.mit.edu	37	8	105026843	105026843	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105026843A>G	uc003yls.3	+	17	2795	c.2554_splice	c.e17+1	p.N852_splice	RIMS2_uc003ylp.3_Splice_Site_p.K1112_splice|RIMS2_uc003ylw.2_Splice_Site_p.N926_splice|RIMS2_uc003ylq.3_Splice_Site_p.K926_splice|RIMS2_uc003ylr.3_Splice_Site_p.K951_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1174	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGGATAGAAGTAAGTTTTA	0.418										HNSCC(12;0.0054)		
DPYS	1807	broad.mit.edu	37	8	105456494	105456494	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105456494C>A	uc003yly.4	-	3	904	c.775G>T	c.(775-777)Gcg>Tcg	p.A259S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	259					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493												
COL14A1	7373	broad.mit.edu	37	8	121259908	121259908	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:121259908C>T	uc003yox.3	+	20	2801	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	COL14A1_uc003yoy.3_Missense_Mutation_p.R524C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R846S(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACCGGTTGCGCATTACGTG	0.458												
TG	7038	broad.mit.edu	37	8	133879299	133879299	+	Silent	SNP	G	G	A	rs145163419	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:133879299G>A	uc003ytw.3	+	0	95	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	18					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGGGTGTCGGCCAATATCT	0.617												
PRUNE2	158471	broad.mit.edu	37	9	79469120	79469120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:79469120C>T	uc010mpk.3	-	1	165	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.R14Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	14					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGTTTGCTTCGATTCTGAAA	0.328												
AKNA	80709	broad.mit.edu	37	9	117129898	117129898	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117129898C>T	uc004biq.3	-	4	1788	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGAGATGTCCCGGTTCTCCG	0.617												
TNC	3371	broad.mit.edu	37	9	117797581	117797581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117797581C>T	uc004bjj.4	-	21	6101	c.5689G>A	c.(5689-5691)Gag>Aag	p.E1897K	TNC_uc010mvf.3_Missense_Mutation_p.E1624K|TNC_uc022bmj.1_Missense_Mutation_p.E1534K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1897	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.E1897K(2)|p.E1897D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGAACCTCAGTAGCAGTC	0.517												
OR5C1	392391	broad.mit.edu	37	9	125551260	125551260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:125551260G>A	uc011lzd.2	+	0	49	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCTGAATTCGTCCTCCTGGG	0.587												
ZNF41	7592	broad.mit.edu	37	X	47308259	47308259	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:47308259T>C	uc004dhs.4	-	3	1103	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	ZNF41_uc004dhu.4_Missense_Mutation_p.S338G|ZNF41_uc004dht.4_Missense_Mutation_p.S218G|ZNF41_uc004dhv.4_Missense_Mutation_p.S314G|ZNF41_uc004dhw.4_Missense_Mutation_p.S306G|ZNF41_uc004dhy.4_Missense_Mutation_p.S304G|ZNF41_uc004dhx.4_Missense_Mutation_p.S304G|ZNF41_uc011mlm.2_Missense_Mutation_p.S218G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	346						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTTTGTTGCTTTTGTCACAT	0.418												
BCORL1	63035	broad.mit.edu	37	X	129190028	129190028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:129190028G>T	uc022cdu.1	+	11	5097	c.5053G>T	c.(5053-5055)Gag>Tag	p.E1685*	BCORL1_uc004evc.2_Nonsense_Mutation_p.E521*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1685					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTCCTCTGAGACTGTGGA	0.627												
PASD1	139135	broad.mit.edu	37	X	150770028	150770028	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:150770028G>T	uc004fev.4	+	1	335	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	1						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408