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
GJB3	2707	broad.mit.edu	37	1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552												
EPHA10	284656	broad.mit.edu	37	1	38227109	38227109	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:38227109G>A	uc009vvi.3	-	2	904	c.818C>T	c.(817-819)gCg>gTg	p.A273V	EPHA10_uc001cbw.4_Missense_Mutation_p.A273V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	273						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.A273A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAATCCCGCGCTGCAGCT	0.677												
LRRIQ3	127255	broad.mit.edu	37	1	74507363	74507363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:74507363G>A	uc001dfy.4	-	6	1444	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	418								p.L417L(1)|p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTAAATGTTCGGAGTTTCATA	0.363												
NBPF10	400818	broad.mit.edu	37	1	144615288	144615288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:144615288C>T	uc009wig.1	+	2	348	c.154C>T	c.(154-156)Cga>Tga	p.R52*	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	54										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGGCCAACCGACAGAAGAA	0.448												
LOC728989	728989	broad.mit.edu	37	1	146494510	146494510	+	Silent	SNP	T	T	C	rs11585592	by1000genomes	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:146494510T>C	uc001epd.2	-	3	563	c.489A>G	c.(487-489)gcA>gcG	p.A163A						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGCCAGGCAGTGCAGGGATGT	0.557												
ILDR2	387597	broad.mit.edu	37	1	166904584	166904584	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:166904584A>T	uc001gdx.2	-	5	890	c.834T>A	c.(832-834)caT>caA	p.H278Q		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	278						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGGAGGTGGATGCGGCTTGT	0.617												
MPP7	143098	broad.mit.edu	37	10	28345469	28345469	+	Silent	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:28345469T>C	uc001iua.1	-	17	1895	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	497	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATTTTTTCTTGTTTCTCTCA	0.403												
OGDHL	55753	broad.mit.edu	37	10	50943387	50943387	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:50943387G>A	uc009xog.3	-	21	3035	c.3001C>T	c.(3001-3003)Cgg>Tgg	p.R1001W	OGDHL_uc001jie.3_Missense_Mutation_p.R974W|OGDHL_uc010qgt.2_Missense_Mutation_p.R917W|OGDHL_uc010qgu.2_Missense_Mutation_p.R765W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	974					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGGGTCCCGGCCAACATAC	0.622												
A1CF	29974	broad.mit.edu	37	10	52596064	52596064	+	Missense_Mutation	SNP	C	C	T	rs148254279		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:52596064C>T	uc001jjj.3	-	5	562	c.374G>A	c.(373-375)cGc>cAc	p.R125H	A1CF_uc010qho.2_Missense_Mutation_p.R133H|A1CF_uc010qhn.2_Missense_Mutation_p.R133H|A1CF_uc009xov.3_Missense_Mutation_p.R125H|A1CF_uc001jji.3_Missense_Mutation_p.R125H|A1CF_uc001jjh.3_Missense_Mutation_p.R133H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	125	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCCTAAGAGGCGCCCATTTCT	0.438												
CNNM1	26507	broad.mit.edu	37	10	101147663	101147663	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:101147663C>T	uc010qpi.2	+	8	2779	c.2490C>T	c.(2488-2490)gaC>gaT	p.D830D	CNNM1_uc001kpp.4_Silent_p.D809D|CNNM1_uc009xwf.3_Silent_p.D809D|CNNM1_uc009xwg.3_Silent_p.D209D	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	809					ion transport	integral to membrane|plasma membrane		p.D444D(1)|p.D809D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCACAGACGGGGACTCCA	0.602												
DCHS1	8642	broad.mit.edu	37	11	6654846	6654846	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:6654846C>T	uc001mem.1	-	4	2653	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTGGCCCGTCTGGCCAA	0.547												
OR4C6	219432	broad.mit.edu	37	11	55432767	55432767	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:55432767T>A	uc010rik.2	+	0	125	c.125T>A	c.(124-126)cTt>cAt	p.L42H		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAAAATCTACTTATTGTGGTA	0.393												
TMEM109	79073	broad.mit.edu	37	11	60687272	60687272	+	Missense_Mutation	SNP	G	G	A	rs139328208		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:60687272G>A	uc001nqg.3	+	1	485	c.107G>A	c.(106-108)cGt>cAt	p.R36H		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	36						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCCAGTCCCGTCGAGACTTT	0.547												
NXF1	10482	broad.mit.edu	37	11	62561731	62561731	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:62561731T>C	uc001nvf.1	-	19	1896	c.1760_splice	c.e19+1	p.K587_splice	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_Splice_Site|NXF1_uc009yog.1_Splice_Site	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	587	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACTCACTTCTGGGACCAC	0.517												
MAP4K2	5871	broad.mit.edu	37	11	64559447	64559448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:64559447_64559448insG	uc001obh.3	-	26	2117_2118	c.2025_2026insC	c.(2023-2028)ggctgcfs	p.G675fs	MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G667fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	675	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCCT	0.708												
DDX11L11	100887824	broad.mit.edu	37	12	92116	92116	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:92116C>T	uc010sdi.1	-	1	222	c.194G>A	c.(193-195)tGc>tAc	p.C65Y	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CAGCGCCAGGCAGTGGTGCAG	0.597												
DDX11L11	100887824	broad.mit.edu	37	12	92127	92127	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:92127C>T	uc010sdi.1	-	1	211	c.183G>A	c.(181-183)caG>caA	p.Q61Q	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		AGTGGTGCAGCTGCCTGTCAG	0.582												
SLCO1B3	28234	broad.mit.edu	37	12	21229466	21229466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:21229466C>T	uc010sil.2	+	14	2076	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	SLCO1B3_uc010sim.2_Nonsense_Mutation_p.R610*|SLCO1B3_uc010sin.2_Nonsense_Mutation_p.R563*			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTGTGGAGCACGAGGGGCTTG	0.358												
STAC3	246329	broad.mit.edu	37	12	57642900	57642900	+	Silent	SNP	G	G	A	rs148939626		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:57642900G>A	uc001snp.2	-	2	460	c.258C>T	c.(256-258)aaC>aaT	p.N86N	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	86					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGGGCTTATCGTTGACCAGCT	0.507												
SACS	26278	broad.mit.edu	37	13	23908788	23908788	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr13:23908788G>T	uc001uon.2	-	9	9816	c.9227C>A	c.(9226-9228)aCt>aAt	p.T3076N	SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3076					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATTAGCAGTTTCATCACA	0.358												
SPTB	6710	broad.mit.edu	37	14	65270332	65270332	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr14:65270332C>T	uc001xht.3	-	2	518	c.467G>A	c.(466-468)cGc>cAc	p.R156H	SPTB_uc001xhr.3_Missense_Mutation_p.R156H|SPTB_uc001xhs.3_Missense_Mutation_p.R156H|SPTB_uc001xhu.3_Missense_Mutation_p.R156H	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	156	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCTGGAAGCGGAGGATGAT	0.572												
WDR72	256764	broad.mit.edu	37	15	53992060	53992060	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:53992060A>T	uc002acj.2	-	12	1694	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q	WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	551										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCGGGCATGCAGGAGGCAACT	0.463												
MEF2A	4205	broad.mit.edu	37	15	100230497	100230497	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:100230497G>A	uc010urw.2	+	6	1087	c.728G>A	c.(727-729)gGt>gAt	p.G243D	MEF2A_uc002bve.3_Missense_Mutation_p.G241D|MEF2A_uc002bvg.3_Missense_Mutation_p.G241D|MEF2A_uc010urv.2_Missense_Mutation_p.G173D|MEF2A_uc010bos.3_Missense_Mutation_p.G241D|MEF2A_uc002bvf.3_Missense_Mutation_p.G243D|MEF2A_uc002bvi.3_Missense_Mutation_p.G241D|MEF2A_uc010bot.3_Missense_Mutation_p.G173D	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	243					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAGCTACTGGTGCAAATAGC	0.413												
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:102292797C>G	uc010usj.2	+	3	444	c.385C>G	c.(385-387)Cca>Gca	p.P129A	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597												
CACNA1H	8912	broad.mit.edu	37	16	1255218	1255218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1255218C>A	uc002cks.3	+	10	2804	c.2556C>A	c.(2554-2556)taC>taA	p.Y852*	CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Y852*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	852					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCTGGGCTACATCCGGAACC	0.597												
MAPK8IP3	23162	broad.mit.edu	37	16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1816093G>A	uc010uvl.2	+	20	2699	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R859Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R849Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R853Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	859					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.R859Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662												
SCNN1G	6340	broad.mit.edu	37	16	23200784	23200784	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:23200784G>A	uc002dlm.1	+	2	549	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	137					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCGGAAGCGCCGAGAGGCG	0.577												
IL4R	3566	broad.mit.edu	37	16	27357789	27357789	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:27357789G>A	uc002don.3	+	6	604	c.362_splice	c.e6-1	p.V121_splice	IL4R_uc002dom.3_Splice_Site_p.V121_splice|IL4R_uc002dop.4_Splice_Site_p.V106_splice|IL4R_uc010bxy.3_Splice_Site_p.V121_splice|IL4R_uc002doo.3_Splice_Site	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	121					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCCGCAGTGAAACCCAGGG	0.567												
DNAH9	1770	broad.mit.edu	37	17	11684359	11684359	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:11684359G>A	uc002gne.3	+	38	7654	c.7586G>A	c.(7585-7587)gGc>gAc	p.G2529D	DNAH9_uc010coo.3_Missense_Mutation_p.G1823D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2529	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGAAGGCTGGCAGAAACTAT	0.542												
CDRT15	146822	broad.mit.edu	37	17	14140072	14140072	+	Nonsense_Mutation	SNP	G	G	A	rs147270904	byFrequency	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:14140072G>A	uc010vvu.2	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	27								p.R27*(2)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCCTTCTTCGGCATCGTCGG	0.597												
CCL3	6348	broad.mit.edu	37	17	34416095	34416095	+	Nonsense_Mutation	SNP	G	G	A	rs5029409		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:34416095G>A	uc002hkv.3	-	2	304	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	68		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCGGCTTCGCTTGGTTAGG	0.597												
JUP	3728	broad.mit.edu	37	17	39680449	39680449	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:39680449G>T	uc010wfs.2	-	7	1391	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.D298E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCGCCGCAGGTCAGTAACCT	0.577												
LRRC37A2	474170	broad.mit.edu	37	17	45127410	45127410	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:45127410C>T	uc010wkj.1	+	1	962	c.608C>T	c.(607-609)gCa>gTa	p.A203V	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1339						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGATGCTCGCAAACAGGCCT	0.473												
IGF2BP1	10642	broad.mit.edu	37	17	47115648	47115648	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:47115648C>T	uc002iom.3	+	5	854	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	174					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTGGCTCTCGGGGTCAGCC	0.652												
SOX9	6662	broad.mit.edu	37	17	70117782	70117782	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:70117782T>G	uc002jiw.3	+	0	622	c.250T>G	c.(250-252)Tac>Gac	p.Y84D	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	84					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCTCAAAGGCTACGACTGGAC	0.637												
EPB41L3	23136	broad.mit.edu	37	18	5406824	5406824	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:5406824G>A	uc002kmt.1	-	15	2387	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	EPB41L3_uc010wzh.1_Silent_p.A598A|EPB41L3_uc002kmu.1_Silent_p.A586A|EPB41L3_uc010dkq.1_Silent_p.A477A|EPB41L3_uc002kms.1_Silent_p.A39A|EPB41L3_uc010wze.1_Silent_p.A39A|EPB41L3_uc010wzf.1_Silent_p.A39A|EPB41L3_uc010wzg.1_Silent_p.A39A|EPB41L3_uc010dkr.2_Silent_p.A159A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	767	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGCCTGGCGGCCAGTCGCA	0.527												
SERPINB2	5055	broad.mit.edu	37	18	61569672	61569672	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:61569672G>A	uc010xeu.2	+	7	1046	c.713G>A	c.(712-714)cGt>cAt	p.R238H	SERPINB2_uc002ljo.3_Missense_Mutation_p.R238H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	238					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTACTTGCGTGAAAAGCTA	0.363												
CACNA1A	773	broad.mit.edu	37	19	13410023	13410023	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:13410023C>T	uc002mwy.3	-	18	2660	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc010xnd.2_Silent_p.T811T|CACNA1A_uc021ups.1_Silent_p.T808T|CACNA1A_uc010xne.2_Silent_p.T811T|CACNA1A_uc010dze.2_Silent_p.T808T|CACNA1A_uc021upt.1_Silent_p.T809T	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTGCCGCGTGTAGGCAG	0.642												
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:40368357C>T	uc002omp.4	-	27	12999	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4331						extracellular region	protein binding	p.A4331T(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647												
B3GNT8	374907	broad.mit.edu	37	19	41932065	41932066	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:41932065_41932066delTG	uc002oqs.3	-	2	1072_1073	c.618_619delCA	c.(616-621)tacagtfs	p.Y206fs	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Frame_Shift_Del_p.Y206fs	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	206					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGCAGGTCACTGTAGCGACGGC	0.653												
GPR4	2828	broad.mit.edu	37	19	46094683	46094683	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094683C>T	uc002pcm.3	-	1	1387	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.A148T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	148						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCGAGTTGGCGCCCAGCTCC	0.672												
GPR4	2828	broad.mit.edu	37	19	46094825	46094825	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094825A>G	uc002pcm.3	-	1	1245	c.300T>C	c.(298-300)aaT>aaC	p.N100N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N100N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	100						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGATGTAGATATTGGTGTAGA	0.622												
CCDC114	93233	broad.mit.edu	37	19	48807021	48807021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:48807021C>T	uc002pir.2	-	7	1446	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.3_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	255										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTCCAGACGCCCTCGGCC	0.632												
CD33	945	broad.mit.edu	37	19	51728525	51728525	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51728525C>T	uc002pwa.2	+	1	129	c.89C>T	c.(88-90)aCg>aTg	p.T30M	CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	30	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAGTCAGTGACGGTACAGGAG	0.582												
CD33	945	broad.mit.edu	37	19	51729331	51729331	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51729331G>A	uc002pwa.2	+	2	731	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CD33_uc010eos.1_Missense_Mutation_p.V231I|CD33_uc010eot.1_Missense_Mutation_p.V104I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	231					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAGCTCAACGTCACCTGTAA	0.607												
MYADML	151325	broad.mit.edu	37	2	33952147	33952147	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:33952147G>A	uc002rpb.3	-	0	1138	c.696C>T	c.(694-696)ggC>ggT	p.G232G						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		ACACCAGGTCGCCCACATAGG	0.577												
CPS1	1373	broad.mit.edu	37	2	211481222	211481222	+	Missense_Mutation	SNP	C	C	T	rs148519116		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:211481222C>T	uc010fur.3	+	21	2744	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C	CPS1_uc002vee.4_Missense_Mutation_p.R882C|CPS1_uc010fus.3_Missense_Mutation_p.R431C|CPS1-IT1_uc002vef.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	882					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTATAAGATGCGTGATATTTT	0.408												
NCL	4691	broad.mit.edu	37	2	232326477	232326477	+	Silent	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:232326477G>T	uc002vru.3	-	2	528	c.387C>A	c.(385-387)atC>atA	p.I129I	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	129	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTTGGCTGGGATGGCAGCAC	0.532												
SH3BP4	23677	broad.mit.edu	37	2	235950763	235950763	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:235950763C>T	uc002vvp.3	+	3	1743	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	SH3BP4_uc010fym.3_Silent_p.Y450Y|SH3BP4_uc002vvq.3_Silent_p.Y450Y	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	450					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTGTATGTACGTGGCTGTCG	0.577												
D2HGDH	728294	broad.mit.edu	37	2	242683167	242683167	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:242683167C>T	uc002wce.1	+	4	794	c.621C>T	c.(619-621)aaC>aaT	p.N207N	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.N73N|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	207	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCAACCAACGCTGGAGGCC	0.617												
SEMG2	6407	broad.mit.edu	37	20	43851621	43851621	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:43851621G>A	uc010ggz.3	+	1	1405	c.1348G>A	c.(1348-1350)Gta>Ata	p.V450I	SEMG2_uc002xnk.3_Missense_Mutation_p.V450I|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	450	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				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)				TCAAAACCAGGTAACAATTCC	0.383												
SULF2	55959	broad.mit.edu	37	20	46292214	46292214	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:46292214G>A	uc002xto.3	-	15	2540	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	SULF2_uc002xtr.3_Missense_Mutation_p.T737M|SULF2_uc002xtq.3_Missense_Mutation_p.T737M|SULF2_uc010zyd.2_Missense_Mutation_p.T16M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	737					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAAAGGCGCCGTCTGCCAGTG	0.597											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZFP64	55734	broad.mit.edu	37	20	50803594	50803594	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:50803594C>T	uc002xwl.3	-	1	412	c.63G>A	c.(61-63)acG>acA	p.T21T	ZFP64_uc002xwk.3_Silent_p.T21T|ZFP64_uc002xwm.3_Silent_p.T19T|ZFP64_uc002xwn.3_Silent_p.T21T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACCAGCACCGTTGTGCCAC	0.483												
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:60921843G>A	uc002ycq.3	-	7	1153	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_uc021wfw.1_Silent_p.Y362Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	362	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGGCCGTAGCAGTTAC	0.667												
TMPRSS15	5651	broad.mit.edu	37	21	19770222	19770222	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:19770222A>G	uc002ykw.3	-	2	349	c.318T>C	c.(316-318)taT>taC	p.Y106Y		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	106	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAGTTCTTATATTCATTCT	0.249												
RIPK4	54101	broad.mit.edu	37	21	43161519	43161519	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:43161519C>T	uc002yzn.1	-	7	1882	c.1834G>A	c.(1834-1836)Gca>Aca	p.A612T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	612						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGCGCTGTGCGGCCAGGTGC	0.687												
A4GALT	53947	broad.mit.edu	37	22	43089430	43089430	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:43089430G>A	uc003bdb.3	-	2	789	c.528C>T	c.(526-528)gaC>gaT	p.D176D	A4GALT_uc021wqo.1_Silent_p.D176D|A4GALT_uc021wqp.1_Silent_p.D176D|A4GALT_uc010gzd.3_Silent_p.D176D|A4GALT_uc021wqq.1_Silent_p.D176D	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	176					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.S175S(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCCTGGAGGCGTCGGAGAGCA	0.652												
SHANK3	85358	broad.mit.edu	37	22	51159629	51159629	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:51159629C>T	uc003bne.1	+	21	3416	c.3416C>T	c.(3415-3417)gCg>gTg	p.A1139V	SHANK3_uc003bnf.1_Missense_Mutation_p.A586V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1139										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCTCCCAGGCGCCCTCCCGG	0.711												
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:1418745G>A	uc003boz.3	+	16	2419	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_uc011asj.2_Missense_Mutation_p.V646I|CNTN6_uc003bpa.3_Missense_Mutation_p.V718I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V718I(4)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373												
RARB	5915	broad.mit.edu	37	3	25215958	25215958	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:25215958C>A	uc011awl.2	+	0	136	c.70C>A	c.(70-72)Ccc>Acc	p.P24T		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	24	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCAGCCACACCCTACCCGTT	0.592												
CYP8B1	1582	broad.mit.edu	37	3	42916827	42916827	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:42916827G>A	uc003cmh.3	-	0	807	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	161					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCAACTGGCATCCAGACT	0.522												
WHSC1	7468	broad.mit.edu	37	4	1955109	1955109	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr4:1955109A>G	uc003gdz.4	+	11	2372	c.2196A>G	c.(2194-2196)gtA>gtG	p.V732V	WHSC1_uc003geb.4_Silent_p.V732V|WHSC1_uc003gec.4_Silent_p.V732V|WHSC1_uc003ged.4_Silent_p.V732V|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_5'UTR|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_Silent_p.V80V	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	732					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTGTGTGGTAACTCAGTGTG	0.458			T	IGH@	MM							
PAM	5066	broad.mit.edu	37	5	102360910	102360911	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr5:102360910_102360911delAG	uc003knt.3	+	22	2934_2935	c.2561_2562delAG	c.(2560-2562)cagfs	p.Q854fs	PAM_uc003knw.3_Frame_Shift_Del_p.Q854fs|PAM_uc003kns.3_Frame_Shift_Del_p.Q747fs|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Frame_Shift_Del_p.Q756fs|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Frame_Shift_Del_p.Q94fs	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	854					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAAGAGAAACAGAAACTGATCA	0.460												
PKHD1	5314	broad.mit.edu	37	6	51523917	51523917	+	Silent	SNP	C	C	T	rs142855690	by1000genomes	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:51523917C>T	uc003pah.1	-	60	11283	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423												
TRAF3IP2	10758	broad.mit.edu	37	6	111912560	111912560	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:111912560A>G	uc011ebc.2	-	2	1345	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	253					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATGCTGGATACCTCTGAGGT	0.572												
DPY19L2P1	554236	broad.mit.edu	37	7	35130052	35130052	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:35130052C>T	uc003teq.1	-	20	2240	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TATTTTTGTCCGAGCCCTTTA	0.264												
PON1	5444	broad.mit.edu	37	7	94953757	94953757	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:94953757C>A	uc003uns.3	-	0	128	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	11					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGTCCCATCCCCAAGAGGGTG	0.607												
TRRAP	8295	broad.mit.edu	37	7	98580929	98580935	+	Frame_Shift_Del	DEL	AACGCAG	AACGCAG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:98580929_98580935delAACGCAG	uc003upp.3	+	58	9057_9063	c.8848_8854delAACGCAG	c.(8848-8856)aacgcaggcfs	p.N2950fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.N2649fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2950	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T2951A(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACAAATCAACGCAGGCTTACAGCC	0.522												
PIK3CG	5294	broad.mit.edu	37	7	106513286	106513286	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:106513286C>T	uc003vdv.4	+	3	2275	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	PIK3CG_uc003vdu.3_Silent_p.H730H|PIK3CG_uc003vdw.3_Silent_p.H730H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	730					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGCTGCACGACTTTACCC	0.473												
AKR1B15	441282	broad.mit.edu	37	7	134260192	134260192	+	Silent	SNP	C	C	T	rs4035285		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:134260192C>T	uc011kpr.2	+	6	833	c.534C>T	c.(532-534)gaC>gaT	p.D178D		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	178							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGCTGGTGGACGAGGGGCTGG	0.517												
MLL3	58508	broad.mit.edu	37	7	151877846	151877846	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:151877846T>C	uc003wla.3	-	35	7318	c.7099A>G	c.(7099-7101)Aca>Gca	p.T2367A	MLL3_uc003wkz.3_Missense_Mutation_p.T1428A|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2367					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTATTCTGTGTATCAGTTACT	0.428			N		medulloblastoma							
FLJ43860	389690	broad.mit.edu	37	8	142476586	142476586	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:142476586G>A	uc003ywi.2	-	18	2481	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	800							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTGATGGCGTGCAGGGTCT	0.632												
HSF1	3297	broad.mit.edu	37	8	145537533	145537533	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:145537533C>T	uc003zbt.4	+	10	1443	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	425	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGACCGTGCCCGACATGAG	0.716												
EXD3	54932	broad.mit.edu	37	9	140201615	140201615	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr9:140201615G>A	uc004cmp.2	-	21	2614	c.2418C>T	c.(2416-2418)gcC>gcT	p.A806A	EXD3_uc010ncf.1_Silent_p.A444A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	806					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGTGCCGTCGGCCAGCATGT	0.697												
MAGEB4	4115	broad.mit.edu	37	X	30260469	30260469	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:30260469G>A	uc004dcb.3	+	0	413	c.217G>A	c.(217-219)Gca>Aca	p.A73T	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	73										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTCTGCTGCTGCAGCTATGTC	0.527												
CCDC120	90060	broad.mit.edu	37	X	48923077	48923077	+	Missense_Mutation	SNP	C	C	T	rs148446381		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:48923077C>T	uc011mmr.2	+	7	1067	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	CCDC120_uc010nik.3_Missense_Mutation_p.R259W|CCDC120_uc011mmq.2_Missense_Mutation_p.R247W|CCDC120_uc004dmf.3_Missense_Mutation_p.R259W|CCDC120_uc010nil.3_Missense_Mutation_p.R259W|CCDC120_uc011mms.2_Missense_Mutation_p.R247W|CCDC120_uc022bvz.1_5'Flank	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	259							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GAGCCCTGAGCGGCGAACCCC	0.642												
BRWD3	254065	broad.mit.edu	37	X	79938109	79938109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:79938109G>A	uc004edt.3	-	37	4515	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.3_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edo.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.R1014*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1418										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGATAATCGCAGCATCATG	0.338												
NXF3	56000	broad.mit.edu	37	X	102334798	102334798	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:102334798C>T	uc004eju.3	-	13	1124	c.1053_splice	c.e13-1	p.Q351_splice	NXF3_uc010noi.1_Splice_Site_p.Q201_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	351	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAGTAATACCTGTTGGAGA	0.493												
