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
CAMTA1	23261	broad.mit.edu	37	1	7798426	7798426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:7798426C>T	uc001aoi.3	+	15	4273	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGTGCGTCCACGGGAACCAAT	0.512			T	WWTR1	epitheliod hemangioendothelioma							
PADI3	51702	broad.mit.edu	37	1	17575699	17575699	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:17575699G>A	uc001bai.3	+	0	107	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGCTGGCGTGGAGACCCT	0.617												
GRHL3	57822	broad.mit.edu	37	1	24663202	24663202	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:24663202C>T	uc021oiw.1	+	3	727	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	166					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TACCTGTTACCCACCACTGAT	0.602												
MCOLN3	55283	broad.mit.edu	37	1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	rs144793042	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:85499910C>T	uc001dkp.3	-	3	568	c.421G>A	c.(421-423)Gtt>Att	p.V141I	MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	141						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468												
RGL1	23179	broad.mit.edu	37	1	183895313	183895313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:183895313A>T	uc001gqm.3	+	18	2760	c.2299A>T	c.(2299-2301)Aaa>Taa	p.K767*	RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	732					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTTGCGCAAAAAGAACTC	0.443												
DISP1	84976	broad.mit.edu	37	1	223116326	223116326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:223116326G>A	uc001hnu.2	+	3	487	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	54					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTCCAAATGGATGCCTGCAA	0.507												
RYR2	6262	broad.mit.edu	37	1	237780709	237780709	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237780709G>C	uc001hyl.1	+	37	5959	c.5839G>C	c.(5839-5841)Gtc>Ctc	p.V1947L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1947	4 X approximate repeats.				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)			ATACAACGAAGTCATGCAAGC	0.448												
RYR2	6262	broad.mit.edu	37	1	237863752	237863752	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237863752G>A	uc001hyl.1	+	64	9472	c.9352G>A	c.(9352-9354)Gga>Aga	p.G3118R	RYR2_uc010pxz.1_Missense_Mutation_p.G73R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3118					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)			GCATCAGTTCGGAGAAGACCT	0.373												
PCDH15	65217	broad.mit.edu	37	10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:55755492G>A	uc010qhy.1	-	21	3195	c.2800C>T	c.(2800-2802)Cga>Tga	p.R934*	PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	929	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G933G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)		
STAMBPL1	57559	broad.mit.edu	37	10	90665247	90665247	+	Silent	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:90665247A>T	uc001kfk.3	+	2	501	c.78A>T	c.(76-78)ccA>ccT	p.P26P	STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	26							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCCTAAGCCCAGAAGAGCGAG	0.418												
OR51S1	119692	broad.mit.edu	37	11	4870156	4870156	+	Missense_Mutation	SNP	C	C	T	rs143553379		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:4870156C>T	uc010qyo.2	-	0	283	c.283G>A	c.(283-285)Gct>Act	p.A95T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCACCAGCAAGGGCGATG	0.537												
C11orf16	56673	broad.mit.edu	37	11	8953775	8953775	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:8953775G>A	uc001mhb.4	-	1	205	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C11orf16_uc001mhc.4_Silent_p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	27										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GAGCAGCACCGTCCCAGCCAG	0.622												
FOLH1	2346	broad.mit.edu	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:49175930G>A	uc001ngy.3	-	15	1999	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	580	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCCTCCTCGAACCTGGGCC	0.413												
OR5D18	219438	broad.mit.edu	37	11	55587854	55587854	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:55587854C>A	uc010rin.2	+	0	749	c.749C>A	c.(748-750)aCc>aAc	p.T250N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTGCCATCACCATCTTCCAT	0.517												
MS4A7	58475	broad.mit.edu	37	11	60150731	60150731	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:60150731C>T	uc001npe.3	+	1	262	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	39						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438												
FAU	2197	broad.mit.edu	37	11	64889007	64889007	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:64889007A>G	uc001ocx.3	-	2	304	c.185T>C	c.(184-186)cTg>cCg	p.L62P	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	62										NS(3)|kidney(1)|large_intestine(2)	6						CAGGGTAGTCAGGGCCTCCAC	0.612												
FOLH1B	219595	broad.mit.edu	37	11	89424164	89424164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:89424164C>T	uc001pda.3	+	10	1340	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	272					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCCCAGGTTCGAGGAGGGAT	0.408												
MPZL2	10205	broad.mit.edu	37	11	118130818	118130818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:118130818G>A	uc001psn.3	-	3	918	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MPZL2_uc001pso.3_Missense_Mutation_p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CGCTTTTTCCGGTAATGCTGG	0.478												
CHEK1	1111	broad.mit.edu	37	11	125503112	125503112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:125503112G>A	uc009zbo.3	+	5	1376	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(2)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes				
TEAD4	7004	broad.mit.edu	37	12	3128315	3128315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:3128315C>T	uc010sej.2	+	7	854	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	188					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTATGCTGTCCAGCCTCCGCT	0.677												
TAS2R30	259293	broad.mit.edu	37	12	11286159	11286159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:11286159G>A	uc009zhs.1	-	0	685	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTCACAGTTTGCAAAGCTTTT	0.418												
PIK3C2G	5288	broad.mit.edu	37	12	18658236	18658236	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:18658236A>G	uc001rdt.3	+	22	3157	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1014	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.N1014S(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTTGAGGAACTTTTTCTAC	0.378												
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:27841240G>A	uc001ric.2	+	24	2775	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468												
SCN8A	6334	broad.mit.edu	37	12	52200784	52200784	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:52200784C>T	uc001ryw.3	+	26	5692	c.5514C>T	c.(5512-5514)agC>agT	p.S1838S	SCN8A_uc010snl.2_Silent_p.S1797S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1838					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAATGGTGAGCGGGGATCGCA	0.562												
LUM	4060	broad.mit.edu	37	12	91502375	91502375	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:91502375G>T	uc001tbm.3	-	1	771	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	128					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.L128M(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GACTCTGTCAGGTTGTTGTGG	0.418												
SDS	10993	broad.mit.edu	37	12	113835119	113835119	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:113835119G>A	uc001tvg.3	-	5	626	c.504C>T	c.(502-504)ggC>ggT	p.G168G	SDS_uc001tvh.1_Silent_p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	168					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G168G(2)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCCCCCGCCGCCCACTGACA	0.662												
FAM123A	219287	broad.mit.edu	37	13	25745233	25745233	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:25745233G>A	uc001uqb.3	-	0	625	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	175										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCCTTGCCGTTTTCCGAGC	0.677												
PAN3	255967	broad.mit.edu	37	13	28840979	28840979	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:28840979A>T	uc001urz.3	+	9	1691	c.1539A>T	c.(1537-1539)aaA>aaT	p.K513N	PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	513	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TAAACAGCAAAGATGATCTGC	0.373												
STARD13	90627	broad.mit.edu	37	13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:33704189G>A	uc001uuw.3	-	4	751	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627												
LRFN5	145581	broad.mit.edu	37	14	42356674	42356674	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:42356674T>A	uc001wvm.3	+	2	2044	c.846T>A	c.(844-846)ttT>ttA	p.F282L	LRFN5_uc010ana.3_Missense_Mutation_p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	282	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAAGAGTTTTTGTGTGAGC	0.502										HNSCC(30;0.082)		
PPP2R5E	5529	broad.mit.edu	37	14	63858710	63858710	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:63858710C>A	uc001xgd.1	-	8	1473	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	295					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGTGAAGGATCTTTCTCCAGA	0.294												
PAPLN	89932	broad.mit.edu	37	14	73717702	73717702	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:73717702G>A	uc010ttx.2	+	5	716	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	185						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGCTACCCCGTCGCAGGCAC	0.632												
CRIP1	1396	broad.mit.edu	37	14	105954816	105954816	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:105954816C>T	uc001yri.4	+	4	316	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	68	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AGGCTTTGGGCGGGGCGGAGC	0.632												
HDC	3067	broad.mit.edu	37	15	50549631	50549631	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr15:50549631G>A	uc001zxz.3	-	3	774	c.432C>T	c.(430-432)ggC>ggT	p.G144G	HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	144					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTGCAGGACGCCTCCGCCCT	0.562												
ADCY9	115	broad.mit.edu	37	16	4033425	4033425	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:4033425G>A	uc002cvx.3	-	6	2866	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	776					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCTTCACGGGGGAGTTCTT	0.562												
MYH11	4629	broad.mit.edu	37	16	15844112	15844112	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:15844112C>T	uc002ddx.3	-	16	2069	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	647	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAACATGCCCTTCTTGGTCT	0.627			T	CBFB	AML							
CD2BP2	10421	broad.mit.edu	37	16	30364599	30364599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:30364599G>A	uc002dxr.3	-	4	1071	c.818C>T	c.(817-819)tCg>tTg	p.S273L	CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	273					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ATCTCCCCGCGACTCTGCTTC	0.572												
HYDIN	54768	broad.mit.edu	37	16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:70867931C>T	uc002ezr.3	-	78	13686	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4513								p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557												
HYDIN	54768	broad.mit.edu	37	16	71026070	71026070	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:71026070G>T	uc002ezr.3	-	23	3839	c.3688C>A	c.(3688-3690)Cag>Aag	p.Q1230K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1230										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCATCTGGGACACTGGG	0.498												
YWHAE	7531	broad.mit.edu	37	17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:1257637C>T	uc002fsj.3	-	4	735	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	195					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.A195T(3)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome					
SLFN12L	342615	broad.mit.edu	37	17	33806205	33806205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:33806205C>T	uc002hjn.3	-	2	1825	c.1111G>A	c.(1111-1113)Gtg>Atg	p.V371M	SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	374						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTATCTTTCACGTGCCAGGAA	0.448												
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:39659272G>A	uc002hwu.1	-	3	877	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(2)|p.R272R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602												
DHX58	79132	broad.mit.edu	37	17	40259776	40259776	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:40259776C>T	uc002hyw.3	-	7	1066	c.843G>A	c.(841-843)gcG>gcA	p.A281A	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	281					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGGTGAAGCGCATACACCC	0.657												
B4GALNT2	124872	broad.mit.edu	37	17	47246247	47246247	+	Nonsense_Mutation	SNP	C	C	T	rs112740954	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:47246247C>T	uc002ion.2	+	9	1539	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	494					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCGCCTGCAACGAGTGGCTCA	0.592												
FASN	2194	broad.mit.edu	37	17	80045208	80045208	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:80045208C>T	uc002kdu.3	-	19	3333	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K	FASN_uc002kdw.1_Silent_p.K288K	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1072					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACCTTGGGCCTTGTCCTGCA	0.672												
ZNF521	25925	broad.mit.edu	37	18	22902139	22902139	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:22902139T>C	uc002kvk.2	-	2	300	c.53A>G	c.(52-54)aAa>aGa	p.K18R	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	18					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCTTCAAGTTTACAGTTGGG	0.423			T	PAX5	ALL							
SS18	6760	broad.mit.edu	37	18	23618584	23618584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:23618584C>T	uc002kvm.3	-	6	893	c.815G>A	c.(814-816)gGg>gAg	p.G272E	SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	272	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.G272W(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGGTCCCCGTAATAGTC	0.438			T	"""SSX1,  SSX2"""	synovial sarcoma							
TJP3	27134	broad.mit.edu	37	19	3746600	3746600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:3746600C>T	uc010xhv.2	+	15	2227	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	724	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGCACTGCGCCAGTGGCT	0.647												
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:11022906C>T	uc002mpz.3	+	4	731	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(4)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622												
CPAMD8	27151	broad.mit.edu	37	19	17007075	17007075	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17007075C>T	uc002nfb.3	-	40	5511	c.5479G>A	c.(5479-5481)Ggg>Agg	p.G1827R	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1780						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAAAGGCCCCGGGGCCACA	0.677												
CPAMD8	27151	broad.mit.edu	37	19	17025572	17025572	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17025572G>A	uc002nfb.3	-	27	3854	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1227						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGGGTCCACGAAGATAAAGC	0.617												
PSG4	5672	broad.mit.edu	37	19	43702421	43702421	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:43702421G>C	uc002ovy.3	-	2	539	c.437C>G	c.(436-438)aCt>aGt	p.T146S	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	146					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.517												
ZNF234	10780	broad.mit.edu	37	19	44661986	44661986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:44661986delG	uc002oym.3	+	5	2124	c.1817delG	c.(1816-1818)agtfs	p.S606fs	ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCACTTCAGTCAGGCCTCA	0.468												
NLRP2	55655	broad.mit.edu	37	19	55505643	55505643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:55505643G>A	uc021vbq.1	+	10	2826	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*	NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	905					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGGCTTTGGAACTGCGACA	0.483												
NLRP8	126205	broad.mit.edu	37	19	56459556	56459556	+	Silent	SNP	C	C	T	rs146471073		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:56459556C>T	uc002qmh.3	+	0	359	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NLRP8_uc010etg.3_Silent_p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	96	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGACGACGCGCTTGGGATG	0.507												
C2orf78	388960	broad.mit.edu	37	2	74040759	74040759	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:74040759T>A	uc002sjr.1	+	1	374	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	85	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATCAGCCTCTGGCACCTC	0.527												
EDAR	10913	broad.mit.edu	37	2	109526984	109526984	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:109526984G>A	uc010fjn.3	-	8	1378	c.831C>T	c.(829-831)aaC>aaT	p.N277N	EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	245					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACATCACCACGTTGTCTGCAG	0.552												
PCDP1	200373	broad.mit.edu	37	2	120385326	120385326	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:120385326C>T	uc002tmb.3	+	16	1868	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PCDP1_uc010yyq.2_Silent_p.F382F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	538						cilium	calmodulin binding					Colorectal(110;0.196)					CCTTCGCTTTCCCAGACTGCA	0.557												
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592												
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542												
XIRP2	129446	broad.mit.edu	37	2	168101563	168101563	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:168101563A>G	uc002udx.3	+	8	3750	c.3661A>G	c.(3661-3663)Aaa>Gaa	p.K1221E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1046					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGTTTTGAAAAAGATCAA	0.308												
TTN	7273	broad.mit.edu	37	2	179469622	179469622	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:179469622C>T	uc021vsy.1	-	229	46715	c.46490G>A	c.(46489-46491)cGc>cAc	p.R15497H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16424	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15496T(1)		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)			TGGGGATGGGCGGTCTGGAAA	0.418												
UGT1A1	54579	broad.mit.edu	37	2	234621856	234621856	+	Silent	SNP	C	C	T	rs17874940		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:234621856C>T	uc002vuw.3	+	0	219	c.219C>T	c.(217-219)aaC>aaT	p.N73N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	72					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGAAGAGAACTTTTTCACCC	0.512												
SLC32A1	140679	broad.mit.edu	37	20	37356997	37356997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:37356997G>A	uc002xjc.3	+	1	1556	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	431					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGTCCTGGGGGCTGACGC	0.662												
SEMG2	6406	broad.mit.edu	37	20	43837278	43837278	+	Missense_Mutation	SNP	G	G	A	rs79500955	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:43837278G>A	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R447H|SEMG2_uc002xnj.2_Missense_Mutation_p.R387H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GACAGTGATCGTCATTTGGCA	0.398												
EYA2	2139	broad.mit.edu	37	20	45811961	45811961	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:45811961G>C	uc002xsm.3	+	14	1832	c.1458G>C	c.(1456-1458)agG>agC	p.R486S	EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	486					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTTCGAGAGGATAATGCAGA	0.517												
TSPEAR	54084	broad.mit.edu	37	21	45948429	45948429	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr21:45948429C>T	uc002zfe.1	-	5	894	c.828G>A	c.(826-828)ccG>ccA	p.P276P	TSPEAR_uc010gpv.1_Silent_p.P208P	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	276					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCTCGGTACACGGTGGCTGGG	0.577												
GRM7	2917	broad.mit.edu	37	3	6903093	6903093	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:6903093G>T	uc003bqm.2	+	0	292	c.18G>T	c.(16-18)aaG>aaT	p.K6N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	6					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGAGGAAGCTGCTCCGCG	0.721												
PRKCD	5580	broad.mit.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:53213676C>T	uc003dgl.3	+	3	552	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.R67C(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTATGAGGGGCGCGTCATCCA	0.582												
ST6GAL1	6480	broad.mit.edu	37	3	186791960	186791960	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:186791960C>T	uc003frb.3	+	6	1451	c.818C>T	c.(817-819)cCg>cTg	p.P273L	ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	273					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P273L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TACCAGAATCCGGATTATAAT	0.488												
UGT2A1	10941	broad.mit.edu	37	4	70455275	70455275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:70455275G>A	uc011caq.2	-	6	2013	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	467					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTTTGTGGCGCATGACAAAC	0.478												
FRAS1	80144	broad.mit.edu	37	4	79362349	79362349	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:79362349C>A	uc003hlb.2	+	40	6003	c.5563C>A	c.(5563-5565)Cac>Aac	p.H1855N	FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1854					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCATTTCACCATTTTTT	0.418												
OSTC	58505	broad.mit.edu	37	4	109571929	109571929	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:109571929T>C	uc003hzb.1	+	0	189	c.118T>C	c.(118-120)Tct>Cct	p.S40P		NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN	Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.	40						integral to membrane|oligosaccharyltransferase complex				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGGTGGTGTCTTACTTCCT	0.612												
DCHS2	54798	broad.mit.edu	37	4	155226289	155226289	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:155226289G>A	uc003inw.2	-	15	3990	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1330	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAGTATGGTGGTTGTCA	0.343												
TKTL2	84076	broad.mit.edu	37	4	164393803	164393803	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:164393803G>A	uc003iqp.4	-	0	1245	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	362						cytoplasm	metal ion binding|transketolase activity	p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTATGAAACGCTCAGGGTGT	0.453												
IRF2	3660	broad.mit.edu	37	4	185329382	185329382	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:185329382A>G	uc003iwf.4	-	5	659	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	153					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGAGAAAGATCACTTACTC	0.388												
TERT	7015	broad.mit.edu	37	5	1280302	1280302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1280302C>A	uc003jcb.1	-	3	1979	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93*	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	641	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCTGGCTCCCACGACGTAG	0.557									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis			
SLC6A3	6531	broad.mit.edu	37	5	1422128	1422128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1422128G>A	uc003jck.3	-	5	780	c.654_splice	c.e5-1	p.E218_splice		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	218					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCACGCCACGTCTGCAGAGG	0.667												
PCDHAC2	56147	broad.mit.edu	37	5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:140166017G>A	uc003lhb.2	+	0	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V48I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627												
FAT2	2196	broad.mit.edu	37	5	150924338	150924338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:150924338C>T	uc003lue.4	-	8	6363	c.6350G>A	c.(6349-6351)cGa>cAa	p.R2117Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCAATTCGGAAATATGT	0.433												
GABRA1	2554	broad.mit.edu	37	5	161318009	161318009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:161318009T>C	uc010jiw.3	+	8	1277	c.809T>C	c.(808-810)gTc>gCc	p.V270A	GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	270					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTCTCACAAGTCTCCTTCTGG	0.408												
TAP1	6890	broad.mit.edu	37	6	32815851	32815851	+	Missense_Mutation	SNP	G	G	A	rs149070070	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:32815851G>A	uc003ocg.3	-	7	1920	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TAP1_uc011dqi.2_Missense_Mutation_p.R328C	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	589	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TCGCCAGGGCGTAGGGTGAAT	0.582												
RUNX2	860	broad.mit.edu	37	6	45514681	45514681	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:45514681C>T	uc011dvx.2	+	8	1415	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTACACCCCGCCAGTCACC	0.577												
ZNF292	23036	broad.mit.edu	37	6	87969728	87969728	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:87969728A>G	uc003plm.4	+	7	6422	c.6381A>G	c.(6379-6381)atA>atG	p.I2127M		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTACGATACAGCAAAACT	0.438												
LAMA2	3908	broad.mit.edu	37	6	129371228	129371228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:129371228C>T	uc021zfb.1	+	1	383	c.278C>T	c.(277-279)cCa>cTa	p.P93L	LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCAATCCAAACCGTATG	0.438												
GRM1	2911	broad.mit.edu	37	6	146720521	146720521	+	Silent	SNP	C	C	T	rs145874853	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146720521C>T	uc010khw.1	+	7	2816	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	782					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.N782I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAACTTCAACGAGGCCAAAT	0.502												
GRM1	2911	broad.mit.edu	37	6	146755247	146755247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146755247G>A	uc010khw.1	+	8	3370	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	967					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R967H(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGCCGATTCGCTTTAGCCCG	0.602												
C6orf211	79624	broad.mit.edu	37	6	151789616	151789616	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:151789616C>G	uc003qok.1	+	4	956	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C6orf211_uc011ees.1_Missense_Mutation_p.L114V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	233							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGGTCATTGCTTAGCAATTG	0.328												
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:153043291G>A	uc003qpc.4	+	1	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	204						nucleus		p.R204H(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532												
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:18788727G>A	uc003sui.3	+	12	2050	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R670L(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438												
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294												
POM121L12	285877	broad.mit.edu	37	7	53103630	53103630	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:53103630C>T	uc003tpz.3	+	0	282	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	89								p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCAAGCCGCAGCGGGTG	0.692												
SEMA3C	10512	broad.mit.edu	37	7	80387693	80387693	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:80387693C>T	uc011kgw.2	-	14	1730	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	533					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCCAGGCGCAATAAGGG	0.537												
PDK4	5166	broad.mit.edu	37	7	95216404	95216404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:95216404C>T	uc003uoa.3	-	9	1333	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	PDK4_uc003unz.3_Missense_Mutation_p.R126H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	338	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGCATACAGACGAGAAATTGG	0.378												
KEL	3792	broad.mit.edu	37	7	142650962	142650962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:142650962C>T	uc003wcb.3	-	8	1216	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	336					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCATGGACCACGAGGGACTGA	0.537												
TRPA1	8989	broad.mit.edu	37	8	72938268	72938268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr8:72938268C>A	uc003xza.3	-	24	3153	c.2978G>T	c.(2977-2979)tGg>tTg	p.W993L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	993						integral to plasma membrane		p.W993S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCGTAGAAACCAAAGTGGCAG	0.363												
DOCK8	81704	broad.mit.edu	37	9	286581	286581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:286581G>A	uc003zgf.2	+	2	389	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V25M(1)|p.V25L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACTTGGACGTGGTGTTCAC	0.498												
GLIS3	169792	broad.mit.edu	37	9	4286000	4286000	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:4286000G>A	uc003zhx.1	-						GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.N142N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAAAAAAATCGTTTCCATTTT	0.393												
GPR143	4935	broad.mit.edu	37	X	9711643	9711643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:9711643delC	uc004cst.2	-	5	877	c.729delG	c.(727-729)aagfs	p.K243fs		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	243					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAAATCGGATCTTGATCACGG	0.393												
SCML2	10389	broad.mit.edu	37	X	18260650	18260650	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:18260650G>T	uc004cyl.2	-	13	2040	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	628					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGGTTGAAGGGTCCTTAGA	0.453												
CNKSR2	22866	broad.mit.edu	37	X	21670464	21670464	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:21670464A>G	uc004czx.2	+	21	3410	c.2930A>G	c.(2929-2931)gAc>gGc	p.D977G	CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	977					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGTCCTAGACAATCCAGAC	0.378												
DMD	1756	broad.mit.edu	37	X	31986588	31986588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:31986588G>A	uc004dda.1	-	44	6726	c.6482C>T	c.(6481-6483)aCa>aTa	p.T2161I	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2161					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCATTCAATGTTCTGACAAC	0.428												
PIM2	11040	broad.mit.edu	37	X	48771498	48771498	+	Silent	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:48771498C>A	uc004dls.3	-	5	1148	c.846G>T	c.(844-846)ctG>ctT	p.L282L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	282	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCCAGGGGTCCAGCAGGATCT	0.617												
P2RY4	5030	broad.mit.edu	37	X	69478786	69478786	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69478786G>T	uc004dxz.1	-	0	869	c.689C>A	c.(688-690)cCc>cAc	p.P230H		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCTGGCAAGGGCTGATACAG	0.582												
KIF4A	24137	broad.mit.edu	37	X	69626855	69626855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69626855A>G	uc004dyg.3	+	27	3328	c.3185A>G	c.(3184-3186)gAt>gGt	p.D1062G	KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1062	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						gatggtgatgatgatgagggg	0.433												
MED12	9968	broad.mit.edu	37	X	70351950	70351950	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:70351950G>A	uc004dyy.3	+	29	4346	c.4147G>A	c.(4147-4149)Gcc>Acc	p.A1383T	MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1383					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGAACATCGCCAAGGCCAC	0.507			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome					
DIAPH2	1730	broad.mit.edu	37	X	96171460	96171460	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:96171460A>G	uc004efu.4	+	7	1152	c.756A>G	c.(754-756)ggA>ggG	p.G252G	DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	252	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATTCTAGGAGATGAAAGAA	0.299												
RGAG1	57529	broad.mit.edu	37	X	109694565	109694565	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:109694565A>G	uc004eor.2	+	2	966	c.720A>G	c.(718-720)gaA>gaG	p.E240E	RGAG1_uc011msr.1_Silent_p.E240E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	240								p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGACACCGAAGCAATGTCCA	0.468												
ODZ1	10178	broad.mit.edu	37	X	123637433	123637433	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:123637433T>C	uc010nqy.3	-	18	3486	c.3422A>G	c.(3421-3423)cAt>cGt	p.H1141R	ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1141					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAAAATGTGATGCTTATTCAA	0.358												
GABRE	2564	broad.mit.edu	37	X	151129839	151129839	+	Splice_Site	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:151129839T>A	uc004ffi.3	-	5	618	c.564_splice	c.e5-1	p.R188_splice	GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	188					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTCATCCTGGAAGGGAGA	0.493												
ATP2B3	492	broad.mit.edu	37	X	152801876	152801876	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:152801876C>T	uc004fht.1	+	0	297	c.171C>T	c.(169-171)agC>agT	p.S57S	ATP2B3_uc004fhs.1_Silent_p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	57					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGTCAGCGGGCTCTGCC	0.667												
