Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C1orf106	55765	broad.mit.edu	37	1	200880764	200880764	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:200880764C>A	uc001gvo.3	+	8	1440	c.1398C>A	c.(1396-1398)caC>caA	p.H466Q	C1orf106_uc010ppm.2_Missense_Mutation_p.H381Q	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	466										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCATCTCCCACCCCACTTCGC	0.677000													30	264					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848629	25848629	+	RNA	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:25848629C>T	uc002wvd.1	-	0		c.158G>A								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						gctgggatgccgtgctgcttc	0.667000													5	18					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599647	136599647	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:136599647T>G	uc003qgx.1	-	3	625	c.372A>C	c.(370-372)agA>agC	p.R124S	BCLAF1_uc003qgy.1_Missense_Mutation_p.R122S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R122S|BCLAF1_uc003qgw.1_Missense_Mutation_p.R124S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	124					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTTCTGGATCTTTGAGAAG	0.448000													14	210					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98999903	98999903	+	Splice_Site	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:98999903G>A	uc010fij.3	+	5	602	c.461_splice	c.e5+1	p.E154_splice	CNGA3_uc002syt.3_Splice_Site_p.E150_splice|CNGA3_uc002syu.3_Intron			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	150					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACGGAGGAGGAGTAAGTACC	0.592000													19	75					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988215	154988215	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988215A>G	uc001fgj.4	+	4	1466	c.1181A>G	c.(1180-1182)aAa>aGa	p.K394R	ZBTB7B_uc009wpa.3_Missense_Mutation_p.K360R|ZBTB7B_uc001fgk.4_Missense_Mutation_p.K360R|ZBTB7B_uc010peq.2_Missense_Mutation_p.K394R|ZBTB7B_uc001fgl.4_Missense_Mutation_p.K360R	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	360					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGCAGGCAAACTGCCTCGC	0.632000													18	117					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390563	24390563	+	Splice_Site	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:24390563G>A	uc001bin.4	-	30	3785	c.3622_splice	c.e30+1	p.A1208_splice	MYOM3_uc001bil.4_Splice_Site_p.A101_splice|MYOM3_uc001bim.4_Splice_Site_p.A865_splice	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1208										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGCTCCTACCGTCACCCGTGA	0.522000													12	68					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219747080	219747080	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:219747080G>A	uc002vjd.1	+	1	774	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	104					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACCAGCGCTGGAACTGC	0.597000													16	112					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150436454	150436454	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:150436454G>A	uc003lti.3	-	5	741	c.500C>T	c.(499-501)aCg>aTg	p.T167M	TNIP1_uc010jhq.2_Missense_Mutation_p.T114M|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.T114M|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Missense_Mutation_p.T167M|TNIP1_uc010jhm.3_Missense_Mutation_p.T167M|TNIP1_uc010jhr.2_Missense_Mutation_p.T167M|TNIP1_uc011dco.2_Missense_Mutation_p.T167M|TNIP1_uc003ltg.3_Missense_Mutation_p.T114M|TNIP1_uc003ltk.3_Missense_Mutation_p.T167M|TNIP1_uc003ltj.3_Missense_Mutation_p.T167M|TNIP1_uc021ygb.1_Missense_Mutation_p.T167M	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	167	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACTCAGCGTGGTCTCCAG	0.672000													14	60					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50358866	50358866	+	Missense_Mutation	SNP	G	G	A	rs148637740		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:50358866G>A	uc001rvo.2	+	3	1226	c.704G>A	c.(703-705)cGt>cAt	p.R235H	AQP6_uc001rvp.1_5'Flank|AQP6_uc001rvq.1_5'Flank	NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	235					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						CTGAGTGAGCGTGTGGCCATC	0.607000													15	76					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988223	154988223	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988223C>T	uc001fgj.4	+	4	1474	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	ZBTB7B_uc009wpa.3_Missense_Mutation_p.R363C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R363C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R397C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R363C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	363					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAACTGCCTCGCCACATGAG	0.637000													69	73					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073283	34073283	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:34073283G>A	uc002hjv.2	-	5	1261	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	411					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCCCTGGGGAGTTCAGGGG	0.597000													30	156					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18462374	18462374	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:18462374G>A	uc002wqv.3	+	7	911	c.793G>A	c.(793-795)Gga>Aga	p.G265R	POLR3F_uc002wqw.3_Non-coding_Transcript|POLR3F_uc002wqx.3_Missense_Mutation_p.G224R	NM_006466	NP_006457	Q9H1D9	RPC6_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa (POLR3F), mRNA.	265				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						CAGTGTAGATGGACACATGAA	0.478000													6	281					0	0	1	0	0
PSMG2	56984	broad.mit.edu	37	18	12725487	12725487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr18:12725487G>A	uc002krk.3	+	6	872	c.752G>A	c.(751-753)tGg>tAg	p.W251*	PSMG2_uc002krg.3_Nonsense_Mutation_p.W220*|PSMG2_uc002krj.2_3'UTR	NM_020232	NP_671692	Q969U7	PSMG2_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.	251					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						CCAAGTTCTTGGAGATTACTC	0.373000													18	85					0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127300415	127300415	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:127300415G>A	uc004bor.1	-	5	958	c.780C>T	c.(778-780)gcC>gcT	p.A260A	NR6A1_uc004boq.1_Silent_p.A255A|NR6A1_uc010mwq.1_Silent_p.A256A	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	260					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCAGGTCCTCGGCTGATAACA	0.557000													10	58					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48916759	48916759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr13:48916759G>T	uc001vcb.3	+	2	455	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	97					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)|p.E97fs*14(4)|p.K96R(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAGAAAAAGGAACTGTGGGG	0.313000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	46					0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92821902	92821902	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:92821902G>A	uc001tcb.1	-	0	23	c.21C>T	c.(19-21)aaC>aaT	p.N7N	CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	7								p.N7K(2)|p.N7S(1)		large_intestine(1)|lung(7)	8						ccttaagttcgttgtgcccca	0.423000													6	36					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000													6	45					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000258	14000258	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:14000258C>T	uc002mxl.1	-	5	1470	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	C19orf57_uc002mxk.1_Missense_Mutation_p.E353K	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	471					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CGGAACCCCTCGAGGTCTCGT	0.597000													20	123					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653815	89653815	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89653815C>T	uc001kfb.3	+	1	1145	c.113C>T	c.(112-114)cCt>cTt	p.P38L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	38	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.P38S(6)|p.P38R(2)|p.Y27fs*1(2)|p.F37S(2)|p.Y27_N212>Y(2)|p.P38L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGGGATTTCCTGCAGAAAGA	0.289000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	55					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:71021774C>T	uc003hfa.4	+	2	128	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_uc003hfb.4_Missense_Mutation_p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	19						extracellular region		p.R19W(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259000													6	27					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr22:22664115A>T	uc021wml.1	+	31		c.2557A>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGTTTAATTCAGCCTTGGAAG	0.413000													4	69					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118893526	118893526	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:118893526C>T	uc010nql.3	+	0	951	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member D (SOWAHD), mRNA.	299																	AGCCGGGTGGCGCAAATGCAT	0.647000													7	25					0	0	1	0	0
SPCS2	9789	broad.mit.edu	37	11	74687936	74687936	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:74687936A>G	uc001ovu.2	+	4	568	c.529A>G	c.(529-531)Atc>Gtc	p.I177V		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	177					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						GCTGACCTTCATCAGTGGGAG	0.443000													15	82					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1414328	1414328	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:1414328G>C	uc010nct.2	+	9	1111	c.789G>C	c.(787-789)caG>caC	p.Q263H	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.Q263H|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.Q263H|CSF2RA_uc004cpo.2_Missense_Mutation_p.Q263H|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.Q130H|CSF2RA_uc004cpp.2_Missense_Mutation_p.Q263H|CSF2RA_uc010ncv.2_Missense_Mutation_p.Q263H|CSF2RA_uc004cpr.2_Missense_Mutation_p.Q263H	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	263						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAATACCCAGCCTGGCACGG	0.483000													54	226					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581324	140581324	+	Missense_Mutation	SNP	A	A	C	rs140763995	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140581324A>C	uc003liy.3	+	0	1977	c.1977A>C	c.(1975-1977)caA>caC	p.Q659H		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	659	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q659H(2)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCAAGTGCTCCTGG	0.711000													5	123					0	0	1	0	0
FAM182B	728882	broad.mit.edu	37	20	25848606	25848606	+	RNA	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:25848606G>A	uc002wvd.1	-	0		c.181C>T								Homo sapiens family with sequence similarity 182, member B (FAM182B), non-coding RNA.											lung(1)	1						atcaccgtccgggcaggcctg	0.672000													4	15					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	6023654	6023654	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:6023654C>T	uc010cli.3	+	8	1780	c.1401C>T	c.(1399-1401)taC>taT	p.Y467Y	WSCD1_uc002gcn.3_Silent_p.Y467Y|WSCD1_uc002gco.3_Silent_p.Y467Y|WSCD1_uc010clj.3_Silent_p.Y158Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	467						integral to membrane	sulfotransferase activity	p.Y467Y(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TCAACAGCTACGCCTCGTGGT	0.677000													42	229					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87628820	87628820	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:87628820G>A	uc001kdl.1	-	5	999	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	300						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R300H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGGAGATGCGGTGGTTGTTC	0.567000										Multiple Myeloma(13;0.14)			14	93					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2013186	2013186	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:2013186C>A	uc002cnn.2	-	2	527	c.339G>T	c.(337-339)caG>caT	p.Q113H	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Missense_Mutation_p.Q113H|SNORA10_uc002cnp.1_5'Flank|SNORA64_uc002cnq.2_5'Flank|SNHG9_uc002cnr.3_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	113	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTCTGCTTCTGCACTGGCA	0.547000													3	5					0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:1033825C>T	uc002ckn.3	+	1	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	LMF1_uc002ckk.2_5'Flank|LMF1_uc002ckm.1_5'Flank	NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	174					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677000													10	55					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153592412	153592412	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153592412C>G	uc004fkk.2	-	14	2507	c.2258G>C	c.(2257-2259)aGc>aCc	p.S753T	FLNA_uc010nuu.1_Missense_Mutation_p.S753T	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	753					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTGGGGATGCTGACGCCTCC	0.577000													40	147					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475891	140475891	+	Missense_Mutation	SNP	T	T	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140475891T>C	uc003lil.3	+	0	1655	c.1517T>C	c.(1516-1518)gTc>gCc	p.V506A	PCDHB2_uc003lim.1_Missense_Mutation_p.V167A	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	506	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCCCTGGTCTCCATCAAC	0.701000													6	346					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49253880	49253880	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:49253880C>T	uc002pkk.3	-	3	1634	c.659G>A	c.(658-660)cGc>cAc	p.R220H	FUT1_uc021uwy.1_Missense_Mutation_p.R220H	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	220					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GTCCCCACGGCGCACGTGGAC	0.692000													32	172					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193070293	193070293	+	Missense_Mutation	SNP	G	G	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:193070293G>T	uc001gsz.2	-	1	257	c.161C>A	c.(160-162)aCg>aAg	p.T54K	GLRX2_uc021pgp.1_Missense_Mutation_p.T14K|GLRX2_uc001gta.2_Missense_Mutation_p.T55K	NM_197962	NP_001230328	Q9NS18	GLRX2_HUMAN	Homo sapiens glutaredoxin 2 (GLRX2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	54					DNA protection|apoptosis|cell differentiation|cell redox homeostasis|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CACAGGCGCCGTCGCTAAATT	0.343000													6	50					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52395770	52395770	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:52395770G>A	uc011bef.2	+	29	5229	c.4968G>A	c.(4966-4968)gcG>gcA	p.A1656A		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1656	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCAGAAGGCGCAGCAGCAGC	0.632000													3	24					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr14:23887583C>T	uc001wjx.3	-	29	4111	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(6)|p.S1335L(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													4	81					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100281657	100281657	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:100281657C>T	uc003uwg.1	-	14	2863	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	618										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTTTGAGCGCCTGGAGCT	0.657000													5	30					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89692792C>A	uc001kfb.3	+	4	1308	c.276C>A	c.(274-276)gaC>gaA	p.D92E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	92	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D92H(4)|p.D92E(4)|p.E91*(3)|p.D92G(3)|p.E91Q(2)|p.D92V(2)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.D92N(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.D92Y(1)|p.E91A(1)|p.D92A(1)|p.E91G(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.D92fs*7(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGAAGACCATAACCCAC	0.333000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			29	68					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T	rs55775404		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:207790017C>T	uc001hfy.3	+	32	5549	c.5409C>T	c.(5407-5409)tgC>tgT	p.C1803C	CR1_uc001hfx.3_Silent_p.C2253C|CR1_uc021pij.1_Silent_p.C1803C	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1803	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498000													82	139					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43477687	43477687	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:43477687G>A	uc003tid.1	+	8	1492	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HECW1_uc011kbi.1_Missense_Mutation_p.R296H|HECW1_uc003tie.1_Missense_Mutation_p.R328H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	296	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCATCAAGCGCTTCTTGGGA	0.493000													11	74					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882314	52882314	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:52882314C>T	uc001sam.3	-	6	1431	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	408	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCAATGGCGGCCTGCAGG	0.552000													13	89					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684736	75684736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:75684736G>A	uc002bai.3	-	14	2957	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	SIN3A_uc002baj.3_Nonsense_Mutation_p.Q900*|SIN3A_uc010uml.2_Nonsense_Mutation_p.Q900*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	900					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAGAGAATCTGGTGCAGTCGC	0.438000													23	74					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66873704	66873704	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:66873704G>A	uc002jhq.3	-	32	4495	c.4155C>T	c.(4153-4155)gcC>gcT	p.A1385A	ABCA8_uc002jhp.3_Silent_p.A1345A|ABCA8_uc010wqq.2_Silent_p.A1380A	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1345	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCCTTTCACGGCGGCGTACA	0.617000													40	226					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	28					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71918242	71918242	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:71918242A>G	uc001swl.3	+	2	389	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	LGR5_uc001swm.3_Missense_Mutation_p.Y114C|LGR5_uc021rar.1_Missense_Mutation_p.Y114C|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	114						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACTGGCCTTTACAGTCTTAAA	0.418000													7	43					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155948	71155948	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:71155948G>A	uc001oqk.3	-	2	301	c.51C>T	c.(49-51)ggC>ggT	p.G17G	DHCR7_uc001oql.3_Silent_p.G17G	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	17					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.G17G(3)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CATTGGTGACGCCATCTAGAC	0.502000									Smith-Lemli-Opitz syndrome				23	127					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42522396	42522396	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:42522396T>G	uc002rsi.3	+	11	1612	c.1350T>G	c.(1348-1350)ttT>ttG	p.F450L	EML4_uc010fap.3_Missense_Mutation_p.F392L|EML4_uc002rsj.3_Missense_Mutation_p.F139L	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	450					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGGGAATTTTTGGGGTAAGAA	0.328000			T	ALK	NSCLC								10	54					0	0	1	0	0
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:116049072C>T	uc004bgx.3	+	8	1009	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_uc004bgy.3_Missense_Mutation_p.A299V	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	300						Cajal body|U4/U6 snRNP|nuclear speck|spliceosomal complex	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468000													5	458					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:87148697G>A	uc003uiz.2	-	23	3365	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_uc011khc.2_Missense_Mutation_p.R894W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCTCCAAACCGGAAACATCCA	0.378000													14	49					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653812	137653812	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:137653812C>T	uc004cfe.3	+	18	2359	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	659	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCGGGAGACGATGGAGAAA	0.597000													15	63					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159573042	159573042	+	Missense_Mutation	SNP	A	A	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:159573042A>C	uc003ipz.3	+	17	2372	c.2109A>C	c.(2107-2109)aaA>aaC	p.K703N	RXFP1_uc010iqk.3_Missense_Mutation_p.K571N|RXFP1_uc011cja.2_Missense_Mutation_p.K598N|RXFP1_uc010iqo.3_Missense_Mutation_p.K655N|RXFP1_uc011cjb.2_Missense_Mutation_p.K601N|RXFP1_uc011cjc.2_Missense_Mutation_p.K622N|RXFP1_uc011cjd.2_Missense_Mutation_p.K622N|RXFP1_uc010iql.3_Missense_Mutation_p.K547N|RXFP1_uc011cje.2_Missense_Mutation_p.K730N|RXFP1_uc010iqm.3_Missense_Mutation_p.K670N|RXFP1_uc011cjf.2_Missense_Mutation_p.K572N|RXFP1_uc010iqn.3_Missense_Mutation_p.K648N	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	703						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GACAAAGAAAATCTATGGACA	0.423000													9	62					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57099304	57099304	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:57099304G>A	uc001njt.3	-	8	1328	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	354					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CCGCTCCAGCGGGTAGAGCAG	0.567000													7	38					0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169821955	169821955	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:169821955G>A	uc001ggq.3	+	23	3089	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.E797K|C1orf112_uc009wvt.3_Missense_Mutation_p.E474K|C1orf112_uc001ggr.3_Missense_Mutation_p.E662K|C1orf112_uc010plv.2_Missense_Mutation_p.E739K|SCYL3_uc010plw.1_3'UTR|SCYL3_uc001ggs.2_3'UTR|SCYL3_uc001ggt.2_3'UTR	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	797										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCTCGTCAGGAGTTCCCCTG	0.443000													26	173					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153578523	153578523	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153578523G>A	uc004fkk.2	-	44	7458	c.7209C>T	c.(7207-7209)gaC>gaT	p.D2403D	FLNA_uc011mzn.1_Silent_p.D536D|FLNA_uc010nuu.1_Silent_p.D2395D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2403					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAACTTGACGTCAATCAGGT	0.592000											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	56	224					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699511	140699511	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140699511G>A	uc003ljg.3	-	0	841	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	34					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGACCAGACTGTACTGC	0.468000													17	85					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623364	74623364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:74623364C>T	uc002axo.3	+	13	1982	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	CCDC33_uc002axp.3_Nonsense_Mutation_p.Q352*|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Nonsense_Mutation_p.Q123*|CCDC33_uc002axr.3_Nonsense_Mutation_p.Q123*	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	733							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTATCAGGCCCAGCAGCCACA	0.597000													7	26					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612426	53612426	+	Missense_Mutation	SNP	C	C	T	rs138480197	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:53612426C>T	uc002qax.3	-	6	1365	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ZNF415_uc010yds.2_Missense_Mutation_p.R291Q|ZNF415_uc010ydt.2_Missense_Mutation_p.R291Q|ZNF415_uc002qau.3_Missense_Mutation_p.R278Q|ZNF415_uc002qav.3_Missense_Mutation_p.R303Q|ZNF415_uc002qaw.3_Missense_Mutation_p.R291Q|ZNF415_uc002qay.3_Missense_Mutation_p.R278Q|ZNF415_uc002qaz.3_Missense_Mutation_p.R339Q|ZNF415_uc002qba.3_Missense_Mutation_p.R61Q			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.R291L(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418000													7	40					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317150	35317150	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:35317150A>G	uc002xfw.3	-	3	273	c.131T>C	c.(130-132)gTc>gCc	p.V44A	NDRG3_uc002xfx.3_Missense_Mutation_p.V32A|NDRG3_uc010zvq.2_Intron|NDRG3_uc010zvr.2_Intron	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	44					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTTATAGTGACGTGGACCAC	0.383000													10	56					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111797605	111797605	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:111797605C>T	uc010hqb.2	+	14	2033	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	TMPRSS7_uc011bhr.1_Silent_p.L476L	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	747	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGGCTCCCTCGTTCTGCAGC	0.443000													16	51					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105793951	105793951	+	Missense_Mutation	SNP	C	C	T	rs121912771		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:105793951C>T	uc001kxr.3	-	51	4077	c.3908G>A	c.(3907-3909)cGg>cAg	p.R1303Q	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1303	Triple-helical region.		R -> Q (in GABEB).		cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCCCCGCCTGACAGA	0.672000													9	39					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101747648	101747648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:101747648C>T	uc003uys.4	+	5	599	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CUX1_uc003uyw.3_Nonsense_Mutation_p.R112*|CUX1_uc003uyv.3_Nonsense_Mutation_p.R142*|CUX1_uc003uyt.3_Nonsense_Mutation_p.R158*|CUX1_uc003uyu.3_Nonsense_Mutation_p.R158*|CUX1_uc011kkn.2_Nonsense_Mutation_p.R121*|CUX1_uc003uyx.4_Nonsense_Mutation_p.R147*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	147					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R147*(1)|p.R158*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAAAATCCGAGAATATGA	0.388000													33	130					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56336953	56336954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:56336953_56336954insA	uc003haz.1	-	8	1294_1295	c.368_369insT	c.(367-369)ttafs	p.L123fs	CLOCK_uc003hba.1_Frame_Shift_Ins_p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(4)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCATGATTGCTAAAAAAAAACC	0.287													12	55	---	---	---	---					
F13A1	2162	broad.mit.edu	37	6	6266846	6266847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:6266846_6266847insC	uc003mwv.3	-	3	638_639	c.515_516insG	c.(514-516)cgafs	p.R172fs	F13A1_uc011dib.2_Frame_Shift_Ins_p.R109fs	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGACTGGTTCGAAGTACGCC	0.455													20	110	---	---	---	---					
MAD1L1	8379	broad.mit.edu	37	7	2265126	2265126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:2265126delC	uc003slh.1	-	3	476	c.210delG	c.(208-210)gagfs	p.E70fs	MAD1L1_uc003slf.1_Frame_Shift_Del_p.E70fs|MAD1L1_uc003slg.1_Frame_Shift_Del_p.E70fs|MAD1L1_uc010ksh.1_Frame_Shift_Del_p.E70fs|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Intron|MAD1L1_uc010ksj.3_Frame_Shift_Del_p.E70fs	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	70					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R69L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGCATTTTCTCCCGCTCCA	0.577													13	72	---	---	---	---					
TLE1	7088	broad.mit.edu	37	9	84207940	84207943	+	Splice_Site	DEL	CAGA	CAGA	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:84207940_84207943delCAGA	uc004alz.3	-	15	2052	c.1611_splice	c.e15+1	p.L537_splice	TLE1_uc004aly.3_Splice_Site_p.L527_splice|TLE1_uc011lsr.2_Splice_Site_p.L512_splice|TLE1_uc004ama.1_Splice_Site_p.L526_splice	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	527					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTTCACTCACCAGACAGTCGAGCT	0.534													10	74	---	---	---	---					
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr14:23745310delA	uc001wja.2	-	1	1275	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_uc001wjb.2_Frame_Shift_Del_p.L378fs	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	376						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488													7	79	---	---	---	---					
PRPF8	10594	broad.mit.edu	37	17	1559836	1559837	+	In_Frame_Ins	INS	-	-	TTT			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:1559836_1559837insTTT	uc002fte.3	-	35	5756_5757	c.5642_5643insAAA	c.(5641-5643)aat>aaAAAt	p.1880_1881insK		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1880	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGATGACAATATTGGGGAAGTC	0.505													7	77	---	---	---	---					
BC071797	0	broad.mit.edu	37	21	9766012	9766013	+	RNA	INS	-	-	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr21:9766012_9766013insA	uc011abu.2	+	7		c.509_510insA								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAACTATCAGAAAATGTATGT	0.277													2	4	---	---	---	---					
