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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZMYM1	79830	broad.mit.edu	37	1	35580523	35580523	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:35580523G>C	uc001bym.2	+	11	3240	c.3092G>C	c.(3091-3093)CGA>CCA	p.R1031P	ZMYM1_uc001byn.2_Missense_Mutation_p.R1031P|ZMYM1_uc010ohu.1_Missense_Mutation_p.R1012P|ZMYM1_uc001byo.2_Missense_Mutation_p.R671P|ZMYM1_uc009vut.2_Missense_Mutation_p.R956P	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	1031						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTTTATCGACATTATGCA	0.323000													5	114					0	0	1.23904e-05	0	0
TOE1	114034	broad.mit.edu	37	1	45808289	45808289	+	Silent	SNP	C	A	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:45808289C>A	uc009vxq.2	+	6	1309	c.726C>A	c.(724-726)TCC>TCA	p.S242S	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Silent_p.S162S|TOE1_uc010oln.1_Silent_p.S248S|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	242						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCGTGGCCTCCTACTTAGAAT	0.433000													8	178					0.00010058	0.00948419	0.00010058	1	0
TOR3A	64222	broad.mit.edu	37	1	179064224	179064224	+	Missense_Mutation	SNP	G	C	C	rs143589216	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:179064224G>C	uc001gmd.2	+	6	1217	c.1065G>C	c.(1063-1065)GAG>GAC	p.E355D	TOR3A_uc010pnd.1_Missense_Mutation_p.E139D	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	torsin family 3, member A precursor	355					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			pancreas(1)	1						TGAGCCAGGAGCTCCTGTATA	0.498000													5	79					0	0	1.23904e-05	0	0
ELK4	2005	broad.mit.edu	37	1	205592829	205592830	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:205592829_205592830CG>AT	uc001hcy.1	-	2	1431_1432	c.181_182CG>AT	c.(181-183)CGA>ATA	p.R61I	ELK4_uc001hcz.2_Missense_Mutation_p.R61I|SLC45A3_uc010prn.1_Missense_Mutation_p.R150I|SLC45A3_uc010pro.1_Missense_Mutation_p.R334I|SLC45A3_uc010prp.1_RNA|ELK4_uc010prq.1_RNA	NM_001973	NP_001964	P28324	ELK4_HUMAN	ELK4 protein isoform a	61	ETS.					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity				0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTGAGGGCTCGGCTGAGTTTG	0.406000			T	SLC45A3	prostate								7	187					0	0	6.4e-05	0	0
USH2A	7399	broad.mit.edu	37	1	215955459	215955459	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr1:215955459C>A	uc001hku.1	-	54	11052	c.10665G>T	c.(10663-10665)GAG>GAT	p.E3555D		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3555	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTGAATTCCCTCTTTATCAG	0.413000										HNSCC(13;0.011)			9	49					3.09899e-07	2.97089e-05	1.12685e-05	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr10:37430948C>G	uc001iza.1	+	7	1054	c.955C>G	c.(955-957)CCA>GCA	p.P319A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						ATTTACGTGGCCAGCAAAAGG	0.423000													5	65					0	0	1.23904e-05	0	0
PCDH15	65217	broad.mit.edu	37	10	55570350	55570350	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr10:55570350A>G	uc010qhs.1	-	36	4879	c.4484T>C	c.(4483-4485)GTT>GCT	p.V1495A	PCDH15_uc010qhq.1_Missense_Mutation_p.V1488A|PCDH15_uc010qhr.1_Missense_Mutation_p.V1483A|PCDH15_uc010qht.1_Missense_Mutation_p.V1488A|PCDH15_uc010qhu.1_Silent_p.L1507L	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCTTCACCAACCACCTCACC	0.373000										HNSCC(58;0.16)			4	150					0	0	1.23904e-05	0	0
C10orf81	79949	broad.mit.edu	37	10	115531817	115531817	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr10:115531817A>C	uc001lat.1	+	7	1185	c.623A>C	c.(622-624)CAT>CCT	p.H208P	C10orf81_uc001lar.1_Missense_Mutation_p.H214P|C10orf81_uc009xyc.1_Missense_Mutation_p.H126P|C10orf81_uc001las.1_Missense_Mutation_p.H126P|C10orf81_uc001lau.1_Missense_Mutation_p.H28P	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	208										central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		GAAGAGAATCATTATCTTACT	0.299000													7	76					0	0	5.18039e-06	0	0
NAP1L4	4676	broad.mit.edu	37	11	2979666	2979667	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr11:2979666_2979667GG>TT	uc001lxc.2	-	10	995_996	c.854_855CC>AA	c.(853-855)CCC>CAA	p.P285Q	NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.P285Q|NAP1L4_uc010qxn.1_Missense_Mutation_p.P285Q	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	285					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGGACTCATTGGGTACTTGTTT	0.342000													16	493					0	0	6.4e-05	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926095	67926095	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr11:67926095G>C	uc001onm.1	-	11	1974	c.1718C>G	c.(1717-1719)CCC>CGC	p.P573R	SUV420H1_uc009yse.1_Missense_Mutation_p.P159R|SUV420H1_uc001onn.1_Missense_Mutation_p.P401R|SUV420H1_uc009ysf.2_Missense_Mutation_p.P333R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						ACCACTGTCGGGGCAAGGTTC	0.507000													4	92					0	0	2.56e-06	0	0
SIK3	23387	broad.mit.edu	37	11	116827718	116827719	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr11:116827718_116827719CC>AA	uc001ppy.2	-	2	197_198	c.161_162GG>TT	c.(160-162)CGG>CTT	p.R54L	SIK3_uc001ppz.2_5'UTR|SIK3_uc001pqa.2_Missense_Mutation_p.R54L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	54	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						TTTGAACTTCCCGGAAAATCTT	0.396000													11	300					0	0	6.4e-05	0	0
SYT10	341359	broad.mit.edu	37	12	33529826	33529826	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr12:33529826C>G	uc001rll.1	-	7	1808	c.1511G>C	c.(1510-1512)CGG>CCG	p.R504P	SYT10_uc009zju.1_Missense_Mutation_p.R314P	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	504	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTGGTCGCCCGGCCAGGTAA	0.393000													4	89					0	0	2.56e-06	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518213	85518214	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr12:85518213_85518214CC>AA	uc001tac.2	+	17	4034_4035	c.3923_3924CC>AA	c.(3922-3924)CCC>CAA	p.P1308Q	LRRIQ1_uc001tab.1_Missense_Mutation_p.P1308Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1308										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGCAGTATTCCCACCATAAGAA	0.356000													9	250					0	0	6.4e-05	0	0
EIF2B1	1967	broad.mit.edu	37	12	124116924	124116924	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr12:124116924C>G	uc001ufm.2	-	2	226	c.83G>C	c.(82-84)CGG>CCG	p.R28P	GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc001ufn.2_Missense_Mutation_p.R28P|EIF2B1_uc010tat.1_Missense_Mutation_p.R28P	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B,	28					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCAACGTCCGGATGGCAGC	0.368000													4	199					0	0	3.59834e-05	0	0
SACS	26278	broad.mit.edu	37	13	23912732	23912732	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr13:23912732C>G	uc001uon.2	-	10	5872	c.5283G>C	c.(5281-5283)CAG>CAC	p.Q1761H	SACS_uc001uoo.2_Missense_Mutation_p.Q1614H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1761					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			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		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)		CCACTGTGATCTGAAGAATGC	0.413000													3	81					0	0	6.4e-05	0	0
TMTC4	84899	broad.mit.edu	37	13	101288820	101288820	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr13:101288820G>C	uc001vou.2	-	9	1271	c.1111C>G	c.(1111-1113)CAA>GAA	p.Q371E	TMTC4_uc001vot.2_Missense_Mutation_p.Q390E|TMTC4_uc010tja.1_Missense_Mutation_p.Q260E|TMTC4_uc001vov.1_Missense_Mutation_p.Q116E|TMTC4_uc001vow.1_Missense_Mutation_p.Q154E	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	371	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACAGGGCTTGGCATATCAGG	0.507000													3	68					0	0	6.4e-05	0	0
BEGAIN	57596	broad.mit.edu	37	14	101004687	101004687	+	Silent	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr14:101004687G>C	uc010txa.1	-	6	1547	c.1401C>G	c.(1399-1401)CTC>CTG	p.L467L	BEGAIN_uc001yhp.2_Silent_p.L403L|BEGAIN_uc001yhq.2_Silent_p.L467L	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	467						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				AGCTGGCGTAGAGCGGGCTGG	0.741000													3	15					0	0	2.56e-06	0	0
BTBD12	84464	broad.mit.edu	37	16	3658733	3658733	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr16:3658733T>C	uc002cvp.2	-	2	860	c.233A>G	c.(232-234)AAG>AGG	p.K78R	BTBD12_uc002cvq.1_Missense_Mutation_p.K78R	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	78	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TGAGGCAGCCTTTTGTGTCTT	0.438000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				3	100					0	0	2.56e-06	0	0
NAGPA	51172	broad.mit.edu	37	16	5081826	5081826	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr16:5081826C>G	uc002cyg.2	-	3	623	c.602G>C	c.(601-603)GGG>GCG	p.G201A	ALG1_uc002cyj.2_5'Flank|NAGPA_uc010buc.2_5'Flank|NAGPA_uc002cyf.2_Missense_Mutation_p.G59A|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Intron|NAGPA_uc010uxx.1_3'UTR	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	201	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	CCACACGACCCCACTCAGCAG	0.572000													3	59					0	0	6.4e-05	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr16:18887699T>C	uc002dfm.2	-	13	2000	c.1637A>G	c.(1636-1638)CAT>CGT	p.H546R	SMG1_uc010bwb.2_Missense_Mutation_p.H406R	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						ATAAACAGCATGGGCTACAGC	0.333000													4	18					0	0	2.56e-06	0	0
CNP	1267	broad.mit.edu	37	17	40125862	40125862	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr17:40125862G>C	uc002hyl.1	+	4	1330	c.1186G>C	c.(1186-1188)GGG>CGG	p.G396R	CNP_uc010wfz.1_Missense_Mutation_p.G273R|CNP_uc002hym.1_Missense_Mutation_p.G376R|CNP_uc010wga.1_Missense_Mutation_p.G161R|CNP_uc002hyn.1_Missense_Mutation_p.G161R	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	396					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CATCTTCACGGGGTACTACGG	0.597000													3	29					0	0	6.4e-05	0	0
Unknown	0	broad.mit.edu	37	17	45105705	45105705	+	RNA	SNP	A	G	G	rs147936028	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr17:45105705A>G	uc010wki.1	+	5		c.1307A>G								Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.																		GCCTGGCACGAAATGCAGTTT	0.303000													5	348					0	0	1.23904e-05	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554984	54554984	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr17:54554984G>C	uc002iun.1	+	15	1953	c.1918G>C	c.(1918-1920)GTG>CTG	p.V640L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	640										large_intestine(1)|ovary(1)	2						TCTCTGCCACGTGAAGATCCG	0.408000													3	81					0	0	1.23904e-05	0	0
PSMC5	5705	broad.mit.edu	37	17	61907224	61907224	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr17:61907224G>C	uc002jcb.2	+	4	220	c.179G>C	c.(178-180)CGG>CCG	p.R60P	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R37P|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R52P|PSMC5_uc002jcd.2_Missense_Mutation_p.R52P	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	60			R -> Q (in a colorectal cancer sample; somatic mutation).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	p.R60Q(1)		large_intestine(1)	1						CGCCTATTGCGGGAGGAGCTA	0.522000													3	52					0	0	2.56e-06	0	0
C18orf8	29919	broad.mit.edu	37	18	21095948	21095948	+	Silent	SNP	T	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr18:21095948T>C	uc010xax.1	+	6	658	c.537T>C	c.(535-537)CCT>CCC	p.P179P	C18orf8_uc010xau.1_Silent_p.P22P|C18orf8_uc010xav.1_Silent_p.P131P|C18orf8_uc010xaw.1_Silent_p.P22P|C18orf8_uc002kul.2_RNA	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	179										ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTGCAGCCTTTTCACTTTA	0.507000											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	6.4e-05	0	0
ZNF415	55786	broad.mit.edu	37	19	53612607	53612607	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:53612607T>C	uc002qax.2	-	7	1184	c.835A>G	c.(835-837)ATG>GTG	p.M279V	ZNF415_uc002qat.2_Missense_Mutation_p.M243V|ZNF415_uc002qaw.2_Missense_Mutation_p.M231V|ZNF415_uc010yds.1_Missense_Mutation_p.M231V|ZNF415_uc010ydt.1_Missense_Mutation_p.M231V|ZNF415_uc002qau.2_Missense_Mutation_p.M218V|ZNF415_uc002qav.2_Missense_Mutation_p.M243V|ZNF415_uc002qba.2_Missense_Mutation_p.M1V|ZNF415_uc002qay.2_Missense_Mutation_p.M218V|ZNF415_uc002qaz.2_Missense_Mutation_p.M279V	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	279	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		CGTACAGTCATGTGTGAGCCA	0.403000													7	92					0	0	2.17888e-05	0	0
ZNF749	388567	broad.mit.edu	37	19	57953291	57953292	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:57953291_57953292CC>AA	uc002qoq.2	+	2	308_309	c.54_55CC>AA	c.(52-57)TCCCAA>TCAAAA	p.Q19K	ZNF547_uc002qpm.3_Intron	NM_001023561	NP_001018855	O43361	ZN749_HUMAN	zinc finger protein 749	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATATTTCTCCCAAGAGGAATG	0.421000													8	184					0	0	6.4e-05	0	0
LOC728819	728819	broad.mit.edu	37	2	43903033	43903034	+	Missense_Mutation	DNP	GG	TT	TT	rs80263019	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr2:43903033_43903034GG>TT	uc010fav.1	-	1	428_429	c.428_429CC>AA	c.(427-429)CCC>CAA	p.P143Q	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.1_Intron	NM_001101330	NP_001094800			C1GALT1-specific chaperone 1-like												0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAAACGTAGTGGGAAGTGCAAG	0.416000													12	391					0	0	6.4e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890083	88890084	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr2:88890083_88890084CC>AA	uc002stc.3	-	6	1244_1245	c.1042_1043GG>TT	c.(1042-1044)GGG>TTG	p.G348L		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	348	Lumenal (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATGACTTTCCCATCCTTAAGT	0.356000													10	307					0	0	6.4e-05	0	0
MIR1246	100302142	broad.mit.edu	37	2	177465771	177465771	+	RNA	SNP	C	A	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr2:177465771C>A	hsa-mir-1246|MI0006381	-			c.10C>A																				0						aAAATCCATTCAAGGATACAA	0.254000													8	75					6.5536e-12	6.49936e-10	5.18039e-06	1	0
NBEAL1	65065	broad.mit.edu	37	2	204002967	204002968	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr2:204002967_204002968CG>AT	uc002uzt.3	+	29	4894_4895	c.4561_4562CG>AT	c.(4561-4563)CGA>ATA	p.R1521I	NBEAL1_uc002uzs.3_Missense_Mutation_p.R231I	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	1521							binding			ovary(1)|skin(1)	2						AAACGCCTTCCGACTAGTGCTG	0.366000													10	266					0	0	6.4e-05	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991600	39991600	+	Silent	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr20:39991600C>G	uc002xjy.1	-	4	833	c.609G>C	c.(607-609)CTG>CTC	p.L203L		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	203						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				GGCTAGCCACCAGGCCACTGA	0.637000													3	15					0	0	2.56e-06	0	0
GART	2618	broad.mit.edu	37	21	34889858	34889859	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr21:34889858_34889859CC>AA	uc002yrx.2	-	15	1894_1895	c.1759_1760GG>TT	c.(1759-1761)GGG>TTG	p.G587L	GART_uc002yrz.2_Missense_Mutation_p.G587L|GART_uc010gmd.2_Missense_Mutation_p.G249L|GART_uc002yry.2_Missense_Mutation_p.G587L	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	587	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)	AACGGCAAACCCAGCTAGGTCA	0.455000													7	111					0	0	6.4e-05	0	0
LCA5L	150082	broad.mit.edu	37	21	40792705	40792705	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr21:40792705C>G	uc002yxu.2	-	6	1215	c.902G>C	c.(901-903)CGG>CCG	p.R301P	LCA5L_uc002yxv.2_Missense_Mutation_p.R301P	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	301											0		Prostate(19;1.2e-06)				TAAAGTCTTCCGAGTCTCAAT	0.393000													3	42					0	0	6.4e-05	0	0
CELSR1	9620	broad.mit.edu	37	22	46787621	46787621	+	Silent	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr22:46787621G>C	uc003bhw.1	-	15	6057	c.6057C>G	c.(6055-6057)ACC>ACG	p.T2019T	CELSR1_uc011arc.1_Silent_p.T340T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2019	Extracellular (Potential).|Laminin EGF-like.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACACTGCCCGGTGGCCATGT	0.637000													3	38					0	0	6.4e-05	0	0
SCN5A	6331	broad.mit.edu	37	3	38592533	38592533	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:38592533A>G	uc003cio.2	-	28	5524	c.5330T>C	c.(5329-5331)GTG>GCG	p.V1777A	SCN5A_uc003cin.2_Missense_Mutation_p.V1776A|SCN5A_uc003cil.3_Missense_Mutation_p.V1777A|SCN5A_uc010hhi.2_Missense_Mutation_p.V1759A|SCN5A_uc010hhk.2_Missense_Mutation_p.V1744A|SCN5A_uc011ayr.1_Missense_Mutation_p.V1723A	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1777			V -> M (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCGTGGCCACGCTGAAGTT	0.522000													4	47					0	0	2.56e-06	0	0
PIK3CB	5291	broad.mit.edu	37	3	138456596	138456596	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:138456596C>G	uc011bmq.1	-	4	754	c.754G>C	c.(754-756)GGG>CGG	p.G252R		NM_006219	NP_006210	P42338	PK3CB_HUMAN	catalytic phosphatidylinositol 3-kinase beta	252	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						TCTACTCTCCCGCTGACTTGC	0.333000													5	297					0	0	8.12818e-05	0	0
LIPH	200879	broad.mit.edu	37	3	185252782	185252783	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:185252782_185252783CC>AA	uc003fpm.2	-	2	297_298	c.187_188GG>TT	c.(187-189)GGG>TTG	p.G63L	LIPH_uc010hyh.2_Missense_Mutation_p.G63L	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	lipase, member H precursor	63					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(1)|pancreas(1)	2	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATTCAAGTTCCCAAAAGCTGAG	0.480000													12	399					0	0	6.4e-05	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185393192	185393193	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:185393192_185393193CG>AT	uc003fpo.2	-	9	1041_1042	c.962_963CG>AT	c.(961-963)CCG>CAT	p.P321H	IGF2BP2_uc010hyi.2_Missense_Mutation_p.P264H|IGF2BP2_uc010hyj.2_Missense_Mutation_p.P258H|IGF2BP2_uc010hyk.2_Missense_Mutation_p.P185H|IGF2BP2_uc010hyl.2_Missense_Mutation_p.P258H|IGF2BP2_uc003fpp.2_Missense_Mutation_p.P321H|IGF2BP2_uc003fpq.2_Missense_Mutation_p.P326H	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	321	KH 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TGGTTCTTTCCGGGTTGTATAT	0.406000													9	291					0	0	6.4e-05	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389604	1389604	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:1389604T>G	uc003gdf.2	+	1	4265	c.1305T>G	c.(1303-1305)GAT>GAG	p.D435E		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	435	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGTCAAGGATCCCTTTTATA	0.423000													3	46					0	0	6.4e-05	0	0
ODZ3	55714	broad.mit.edu	37	4	183609426	183609426	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:183609426C>G	uc003ivd.1	+	11	2180	c.2143C>G	c.(2143-2145)CGC>GGC	p.R715G	ODZ3_uc003ive.1_Missense_Mutation_p.R121G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	715	Extracellular (Potential).|EGF-like 7.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGCCACCCCCGCTGTGCCGA	0.607000													3	43					0	0	6.4e-05	0	0
FAT1	2195	broad.mit.edu	37	4	187630028	187630028	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:187630028T>G	uc003izf.2	-	2	1142	c.954A>C	c.(952-954)AAA>AAC	p.K318N	FAT1_uc010iso.1_Missense_Mutation_p.K318N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	318	Extracellular (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						CACCGATGGCTTTGACTTTAT	0.468000										HNSCC(5;0.00058)			7	190					0	0	1.12685e-05	0	0
ISL1	3670	broad.mit.edu	37	5	50685668	50685668	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr5:50685668C>G	uc003jor.2	+	4	1215	c.667C>G	c.(667-669)CGT>GGT	p.R223G		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	223	Homeobox.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCTCAGTCCCCGTGTGATCCG	0.567000													3	18					0	0	6.4e-05	0	0
C5orf25	375484	broad.mit.edu	37	5	175740709	175740710	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr5:175740709_175740710GG>TT	uc003mds.3	+	7	2100_2101	c.1693_1694GG>TT	c.(1693-1695)GGG>TTG	p.G565L	C5orf25_uc003mdt.3_Missense_Mutation_p.G150L|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Missense_Mutation_p.G26L			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	565											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		AACTCTGCCTGGGCGAGTCCTT	0.490000													7	137					0	0	6.4e-05	0	0
C2	717	broad.mit.edu	37	6	31903790	31903791	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr6:31903790_31903791CG>AT	uc003nyf.2	+	7	1204_1205	c.940_941CG>AT	c.(940-942)CGG>ATG	p.R314M	C2_uc003nyc.2_Missense_Mutation_p.R101M|C2_uc011doo.1_Missense_Mutation_p.R68M|C2_uc011dop.1_Intron|C2_uc010jtk.2_Missense_Mutation_p.R182M|C2_uc011doq.1_Missense_Mutation_p.R285M|C2_uc003nyg.2_Intron|CFB_uc011dor.1_Intron|C2_uc003nyh.1_5'Flank	NM_000063	NP_000054	P06681	CO2_HUMAN	complement component 2 isoform 1 preproprotein	314	VWFA.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CGACAACTCCCGGGATATGACT	0.505000													8	251					0	0	6.4e-05	0	0
CDK19	23097	broad.mit.edu	37	6	110943346	110943346	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr6:110943346G>A	uc003puh.1	-	11	1128	c.1055C>T	c.(1054-1056)CCA>CTA	p.P352L	CDK19_uc003pui.1_Missense_Mutation_p.P292L|CDK19_uc011eax.1_Missense_Mutation_p.P228L	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	cell division cycle 2-like 6 (CDK8-like)	352							ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TTTGGGGTATGGAATCTGGCA	0.343000													7	141					0	0	1.12685e-05	0	0
TSPAN13	27075	broad.mit.edu	37	7	16823104	16823104	+	Silent	SNP	T	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr7:16823104T>C	uc003stq.2	+	6	845	c.603T>C	c.(601-603)AGT>AGC	p.S201S		NM_014399	NP_055214	O95857	TSN13_HUMAN	tetraspan NET-6	201	Cytoplasmic (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		CGAATCCTAGTGCATTCCTTT	0.388000													4	115					0	0	3.59834e-05	0	0
ZNF479	90827	broad.mit.edu	37	7	57200047	57200047	+	Splice_Site	SNP	T	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr7:57200047T>G	uc010kzo.2	-	2	258	c.-13_splice	c.e2-1			NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCAGATACCTGCAGGACACA	0.547000													3	26					0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr7:140481402C>G	uc003vwc.3	-	11	1467	c.1406G>C	c.(1405-1407)GGA>GCA	p.G469A		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	469	ATP (By similarity).|Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(12)|p.G469S(6)|p.G469R(6)|p.G469E(5)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				9	89					0	0	1.12685e-05	0	0
HMBOX1	79618	broad.mit.edu	37	8	28837591	28837591	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:28837591G>C	uc003xhd.3	+	4	846	c.504G>C	c.(502-504)AGG>AGC	p.R168S	HMBOX1_uc010lvd.2_Missense_Mutation_p.R168S|HMBOX1_uc003xhc.3_Missense_Mutation_p.R168S|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.R168S|HMBOX1_uc011lay.1_Missense_Mutation_p.R168S|HMBOX1_uc003xhf.2_Missense_Mutation_p.R156S|HMBOX1_uc003xhg.2_Missense_Mutation_p.R156S	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	168					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGTTAGGAGGGACAGCAGTG	0.443000													4	79					0	0	2.56e-06	0	0
NCOA2	10499	broad.mit.edu	37	8	71126273	71126273	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:71126273C>T	uc003xyn.1	-	4	286	c.124G>A	c.(124-126)GAA>AAA	p.E42K		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	42	Basic motif.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATTTATTTTCCTGTTCACGA	0.284000			T	RUNXBP2	AML								8	92					0	0	2.17888e-05	0	0
SYBU	55638	broad.mit.edu	37	8	110590244	110590244	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:110590244C>G	uc003ynj.3	-	6	900	c.737G>C	c.(736-738)CGT>CCT	p.R246P	SYBU_uc003yni.3_Missense_Mutation_p.R243P|SYBU_uc003ynk.3_Missense_Mutation_p.R127P|SYBU_uc010mco.2_Missense_Mutation_p.R245P|SYBU_uc003ynl.3_Missense_Mutation_p.R245P|SYBU_uc010mcp.2_Missense_Mutation_p.R246P|SYBU_uc010mcq.2_Missense_Mutation_p.R246P|SYBU_uc003yno.3_Missense_Mutation_p.R127P|SYBU_uc010mcr.2_Missense_Mutation_p.R246P|SYBU_uc003ynm.3_Missense_Mutation_p.R245P|SYBU_uc003ynn.3_Missense_Mutation_p.R245P|SYBU_uc010mcs.2_Missense_Mutation_p.R127P|SYBU_uc010mct.2_Missense_Mutation_p.R246P|SYBU_uc010mcu.2_Missense_Mutation_p.R245P|SYBU_uc003ynp.3_Missense_Mutation_p.R178P|SYBU_uc010mcv.2_Missense_Mutation_p.R246P|SYBU_uc003ynh.3_Missense_Mutation_p.R40P|SYBU_uc011lhw.1_Missense_Mutation_p.R116P	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	246	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTCCAGAACGCCTGAAACA	0.373000													6	107					0	0	1.12685e-05	0	0
TG	7038	broad.mit.edu	37	8	133899181	133899181	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr8:133899181C>T	uc003ytw.2	+	9	1605	c.1564C>T	c.(1564-1566)CTC>TTC	p.L522F		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	522					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCCAAGCCACTCTCTGTGGG	0.453000													5	60					0	0	1.23904e-05	0	0
CENPI	2491	broad.mit.edu	37	X	100381697	100381698	+	Splice_Site	DNP	GG	TT	TT			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:100381697_100381698GG>TT	uc004egx.2	+	8	958	c.688_splice	c.e8-1	p.G230_splice	CENPI_uc011mrg.1_Splice_Site_p.G230_splice|CENPI_uc004egy.2_Splice_Site_p.G230_splice	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						TTTTATTTCAGGGAATGCAGCC	0.351000													15	360					0	0	6.4e-05	0	0
WDR44	54521	broad.mit.edu	37	X	117526644	117526644	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:117526644A>C	uc004eqn.2	+	4	661	c.236A>C	c.(235-237)GAT>GCT	p.D79A	WDR44_uc004eqo.2_Missense_Mutation_p.D79A|WDR44_uc011mtr.1_Missense_Mutation_p.D54A|WDR44_uc010nqi.2_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	WD repeat domain 44 protein	79	Binding activity.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						CAGCTTGAAGATGACTCTTTG	0.368000													4	91					0	0	2.56e-06	0	0
SMARCA1	6594	broad.mit.edu	37	X	128626000	128626000	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:128626000C>A	uc004eun.3	-	14	1846	c.1733G>T	c.(1732-1734)GGT>GTT	p.G578V	SMARCA1_uc004eup.3_Missense_Mutation_p.G566V|SMARCA1_uc011muk.1_Missense_Mutation_p.G578V|SMARCA1_uc011mul.1_Missense_Mutation_p.G566V	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	578	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						AATTCCGAGACCTCCAGCCCT	0.378000													8	177					3.09899e-07	2.97089e-05	1.12685e-05	1	0
F9	2158	broad.mit.edu	37	X	138633235	138633235	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:138633235G>C	uc004fas.1	+	6	564	c.535G>C	c.(535-537)GGA>CGA	p.G179R	F9_uc004fat.1_Missense_Mutation_p.G141R	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	179					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ATTTCCATGTGGAAGAGTTTC	0.363000													3	62					0	0	2.56e-06	0	0
MAMLD1	10046	broad.mit.edu	37	X	149642015	149642015	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chrX:149642015G>C	uc004fee.1	+	4	2057	c.1981G>C	c.(1981-1983)GGG>CGG	p.G661R	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.G636R|MAMLD1_uc011mxw.1_Intron	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	661					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					GCATCAACACGGGAACTCTTT	0.468000													4	67					0	0	1.23904e-05	0	0
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Frame_Shift_Ins	INS	-	G	G	rs141646579	by1000genomes	TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr12:7080210_7080211insG	uc001qsh.3	+	1	267_268	c.124_125insG	c.(124-126)AGGfs	p.R42fs	PHB2_uc001qsd.2_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_RNA|EMG1_uc010sfv.1_RNA	NM_006331	NP_006322	Q92979	NEP1_HUMAN	ribosome biogenesis protein NEP1	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding				0						CGGAGGCCGTAGTTTATTGTGG	0.569													6	11	---	---	---	---					
ADAM6	8755	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr14:106774086_106774087insAGTAATACACGGCA	uc010tyt.1	-	430		c.15674_splice	c.e430+1							Parts of antibodies, mostly variable regions.												0						GCCTCTTGCACGTGTCCTCAGC	0.550													3	5	---	---	---	---					
MRI1	84245	broad.mit.edu	37	19	13879419	13879419	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr19:13879419delT	uc002mxe.2	+	4	658	c.592delT	c.(592-594)TTCfs	p.F198fs	MRI1_uc002mxf.2_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	198					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1						GGAGCATGCCTTCTGCACAGA	0.657													2	4	---	---	---	---					
SNX21	90203	broad.mit.edu	37	20	44462578	44462578	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr20:44462578delA	uc002xpv.1	+	1	109	c.20delA	c.(19-21)GAGfs	p.E7fs	SNX21_uc002xps.1_Frame_Shift_Del_p.E7fs|SNX21_uc002xpt.1_Frame_Shift_Del_p.E7fs|SNX21_uc002xpu.1_Frame_Shift_Del_p.E7fs|SNX21_uc002xpw.1_5'UTR|SNX21_uc002xpx.2_5'Flank|SNX21_uc010zxd.1_5'Flank|SNX21_uc002xpy.1_5'Flank	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	7					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				GGGACGCAGGAGGTAGAGGCG	0.726													2	4	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142274740	142274740	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr3:142274740delT	uc003eux.3	-	10	2442	c.2320delA	c.(2320-2322)ATAfs	p.I774fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	774					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GGACTAGGTATTTTTTTTTTC	0.328								Other_conserved_DNA_damage_response_genes					7	139	---	---	---	---					
AMBN	258	broad.mit.edu	37	4	71467206	71467206	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1IB-06A-11D-A196-08	TCGA-DA-A1IB-10A-01D-A198-08									Somatic	Phase_I	Capture				Illumina GAIIx	4f460014-a80c-4d86-aa5a-7baddf39b594	30919a1a-df9f-4604-835e-f66ac7bcacdf	g.chr4:71467206delA	uc003hfl.2	+	6	441	c.366delA	c.(364-366)GGAfs	p.G122fs		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	122					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			AACAGCCAGGACTGAAACCTT	0.507											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	122	---	---	---	---					
