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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANKZF1	55139	broad.mit.edu	37	2	220099828	220099828	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:220099828G>T	uc002vkg.3	+	9	1659	c.1485G>T	c.(1483-1485)tgG>tgT	p.W495C	ANKZF1_uc010zkv.1_3'UTR|ANKZF1_uc010zkw.1_3'UTR|ANKZF1_uc002vkh.3_Missense_Mutation_p.W285C|ANKZF1_uc002vki.3_Missense_Mutation_p.W495C|ANKZF1_uc002vkj.1_3'UTR	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	495						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGAGCTCTGGAATGCACTGC	0.587000														29			21		8.10497e-08	6.44725e-06	0.000175454	1	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:46620496A>G	uc002inm.3	-	1	1125	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(4)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000														129			3		0	0	6.4e-05	0	0
BLMH	642	broad.mit.edu	37	17	28601215	28601215	+	Splice_Site	SNP	T	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:28601215T>C	uc002hez.2	-	7	993	c.646_splice	c.e7-1	p.I216_splice	BLMH_uc010wbn.2_Splice_Site_p.I129_splice	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	216					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						ACTCGGAATATCTGGAAGAGA	0.408000														52			12		0	0	0.00010058	0	0
ASB10	136371	broad.mit.edu	37	7	150878302	150878302	+	Silent	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:150878302C>G	uc003wjm.1	-	2	1089	c.828G>C	c.(826-828)ctG>ctC	p.L276L	ASB10_uc003wjl.1_Silent_p.L276L|ASB10_uc003wjn.1_Silent_p.L261L	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	276					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAAGCTGCACAGCTGCAGGC	0.682000														42			10		0	0	2.31682e-05	0	0
TMEM203	94107	broad.mit.edu	37	9	140099503	140099503	+	Missense_Mutation	SNP	A	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr9:140099503A>T	uc004clv.3	-	0	588	c.364T>A	c.(364-366)Ttc>Atc	p.F122I	NDOR1_uc004clx.3_5'Flank|NDOR1_uc004clw.3_5'Flank|NDOR1_uc011mes.2_5'Flank|NDOR1_uc004cly.3_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	Homo sapiens transmembrane protein 203 (TMEM203), mRNA.	122						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGGAGAATGAAGAGCGGGGAC	0.587000														16			19		0	0	3.10358e-05	0	0
LIMA1	51474	broad.mit.edu	37	12	50571511	50571511	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr12:50571511C>G	uc001rwj.4	-	10	1790	c.1616G>C	c.(1615-1617)gGa>gCa	p.G539A	LIMA1_uc001rwg.4_Missense_Mutation_p.G237A|LIMA1_uc001rwh.4_Missense_Mutation_p.G378A|LIMA1_uc001rwi.4_Missense_Mutation_p.G380A|LIMA1_uc001rwk.4_Missense_Mutation_p.G540A|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	539					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCTGAACTTCCAAGTTCAGT	0.532000														85			71		0	0	0.000147903	0	0
WISP1	8840	broad.mit.edu	37	8	134225321	134225321	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr8:134225321C>T	uc003yub.3	+	1	390	c.284C>T	c.(283-285)cCc>cTc	p.P95L	WISP1_uc003yuc.3_Missense_Mutation_p.P95L|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Missense_Mutation_p.P95L|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	95	IGFBP N-terminal.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATCTGTGACCCCCACCGGGGC	0.612000														34			32		0	0	0.000109025	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177632984	177632984	+	Silent	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr5:177632984G>A	uc003miu.3	+	2	608	c.351G>A	c.(349-351)ctG>ctA	p.L117L	HNRNPAB_uc003miv.3_Silent_p.L117L|HNRNPAB_uc003mix.3_Silent_p.L117L	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	116	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						GGTTTATCCTGTTCAAAGATG	0.408000														74			81		0	0	0.000147903	0	0
COL27A1	85301	broad.mit.edu	37	9	117047026	117047026	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr9:117047026C>G	uc011lxl.2	+	40	3956	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1319	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATTGTGGGACCCCTTGGACCT	0.557000														49			30		0	0	5.84002e-05	0	0
GP1BA	2811	broad.mit.edu	37	17	4837101	4837101	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:4837101C>T	uc021tnz.1	+	1	1277	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	GP1BA_uc021toa.1_Non-coding_Transcript|GP1BA_uc021tob.1_Missense_Mutation_p.T401I	NM_000173	NP_000164	E7ES66	E7ES66_HUMAN	Homo sapiens glycoprotein Ib (platelet), alpha polypeptide (GP1BA), mRNA.	401										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						AACATGACCACCCTGGAGCCC	0.667000														38			13		0	0	0.00010058	0	0
RBFOX2	23543	broad.mit.edu	37	22	36206007	36206007	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr22:36206007A>G	uc003aon.4	-	2	394	c.282T>C	c.(280-282)ccT>ccC	p.P94P	RBFOX2_uc003aom.4_Silent_p.P24P|RBFOX2_uc003aol.4_Silent_p.P24P|RBFOX2_uc003aoj.4_Silent_p.P24P|RBFOX2_uc003aok.4_Silent_p.P24P|RBFOX2_uc003aoh.4_Silent_p.P24P|RBFOX2_uc010gwu.3_Silent_p.P4P|RBFOX2_uc003aoo.4_Silent_p.P94P	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	34					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						TGGTAGTAAAAGGCTGAACCA	0.473000														63			51		0	0	0.000147903	0	0
PCDH15	65217	broad.mit.edu	37	10	55568839	55568839	+	Missense_Mutation	SNP	T	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr10:55568839T>A	uc021pqw.1	-	35	5375	c.4980A>T	c.(4978-4980)aaA>aaT	p.K1660N	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.K1655N|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCACAATGTTTTTCCTTGCTT	0.473000										HNSCC(58;0.16)				14			13		0	0	0.00010058	0	0
HCN2	610	broad.mit.edu	37	19	615935	615935	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr19:615935G>C	uc002lpe.3	+	7	2184	c.2131G>C	c.(2131-2133)Gtg>Ctg	p.V711L		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	711					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCAGCGCGTGGGCCTCTT	0.692000														17			3		0	0	6.4e-05	0	0
C3orf27	23434	broad.mit.edu	37	3	128292497	128292497	+	Missense_Mutation	SNP	C	T	T	rs141693917		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:128292497C>T	uc021xdl.1	-	0	76	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	C3orf27_uc003ekq.3_Missense_Mutation_p.V26I	NM_007354	NP_031380	O15544	GR6_HUMAN	Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA.	26								p.V26I(4)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCGGGAGACGCTGAGTCTA	0.592000														40			9		0	0	2.17888e-05	0	0
TTBK2	146057	broad.mit.edu	37	15	43038031	43038031	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr15:43038031G>T	uc001zqo.2	-	14	4136	c.3697C>A	c.(3697-3699)Caa>Aaa	p.Q1233K	TTBK2_uc010bcy.2_Missense_Mutation_p.Q1164K|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1233					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTCTTCCCTTGGGGGGTTTTA	0.537000														201			13		5.01169e-05	0.00380814	5.01169e-05	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000														89			5		0	0	1.23904e-05	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621201	99621201	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:99621201A>G	uc003usk.1	+	1	291	c.72A>G	c.(70-72)gtA>gtG	p.V24V	ZKSCAN1_uc003usj.3_Silent_p.V23V|ZKSCAN1_uc003usl.1_5'UTR|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	24					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGGTATCGTAATAGTGAAGG	0.542000														123			40		0	0	6.26518e-05	0	0
UBB	7314	broad.mit.edu	37	17	16285476	16285476	+	Silent	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:16285476C>G	uc002gpx.3	+	1	393	c.255C>G	c.(253-255)acC>acG	p.T85T	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.T85T	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	85	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCCTGACCGGCAAGACCA	0.552000														140			4		0	0	0.00024832	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938440	30938440	+	RNA	SNP	A	G	G	rs115448147	by1000genomes	TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr15:30938440A>G	uc010azv.1	+	10		c.1250A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTCCTTTGCTATTTGTGCATG	0.493000														39			5		0	0	1.12685e-05	0	0
CYB561	1534	broad.mit.edu	37	17	61511913	61511913	+	Silent	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:61511913G>A	uc002jaq.3	-	5	767	c.744C>T	c.(742-744)aaC>aaT	p.N248N	CYB561_uc002jap.3_Silent_p.N202N|CYB561_uc002jar.3_Silent_p.N202N|CYB561_uc002jas.3_Silent_p.N202N|CYB561_uc010ddt.3_3'UTR|CYB561_uc002jat.3_Silent_p.N202N|CYB561_uc010wpf.2_3'UTR|CYB561_uc010wpg.2_Silent_p.N173N	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	202					electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGCCCAGCACGTTGGCCAGGA	0.642000														13			22		0	0	0.000227799	0	0
PRDM2	7799	broad.mit.edu	37	1	14068533	14068533	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr1:14068533G>T	uc001avi.3	+	4	1121	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	PRDM2_uc001avg.3_Missense_Mutation_p.D89Y|PRDM2_uc001avh.3_Missense_Mutation_p.D89Y	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	89	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GATGTGCATTGATGCCACTGA	0.383000														27			26		6.07407e-21	5.15385e-19	0.000184323	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123898	99123898	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:99123898G>T	uc003uqv.3	+	5	1359	c.1235G>T	c.(1234-1236)cGg>cTg	p.R412L	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.R412L|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.R412L|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.R339L|ZKSCAN5_uc003uqy.3_Missense_Mutation_p.R148L	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	412					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGGCTTTCCGGGTGAGTTCC	0.582000														255			7		8.12818e-05	0.00599719	8.12818e-05	1	0
CNOT1	23019	broad.mit.edu	37	16	58585134	58585134	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:58585134T>C	uc002env.3	-	23	3537	c.3244A>G	c.(3244-3246)Aca>Gca	p.T1082A	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T1077A|CNOT1_uc002enx.3_Missense_Mutation_p.T1082A|CNOT1_uc002enz.1_Missense_Mutation_p.T511A|CNOT1_uc010vik.2_Missense_Mutation_p.T78A|SNORA46_uc002eny.1_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1082					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTTGATCTGTGGCCACAAGC	0.323000														134			227		0	0	0.000147903	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826534	24826534	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:24826534G>A	uc002dmm.3	+	18	4853	c.4739G>A	c.(4738-4740)aGt>aAt	p.S1580N	TNRC6A_uc010bxs.3_Missense_Mutation_p.S1327N|TNRC6A_uc002dmn.3_Missense_Mutation_p.S1278N|TNRC6A_uc002dmo.3_Missense_Mutation_p.S1219N|TNRC6A_uc002dmp.3_Missense_Mutation_p.S181N|TNRC6A_uc002dmq.3_Missense_Mutation_p.S247N	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1580					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGAACAGCAGTACTTCACCA	0.458000														83			32		0	0	3.70037e-05	0	0
TEX14	56155	broad.mit.edu	37	17	56663339	56663339	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:56663339G>C	uc010dcz.2	-	17	3029	c.2911C>G	c.(2911-2913)Ccc>Gcc	p.P971A	TEX14_uc002iwr.2_Missense_Mutation_p.P965A|TEX14_uc002iws.2_Missense_Mutation_p.P965A|TEX14_uc010dda.2_Missense_Mutation_p.P745A	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	971						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCGTCGGGCTCATTTTCA	0.512000														162			63		0	0	0.000147903	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388729	1388729	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr4:1388729G>C	uc003gdf.2	+	0	3390	c.430G>C	c.(430-432)Gga>Cga	p.G144R		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	144					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			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCATGCGGAGTGCCCGC	0.701000														173			4		0	0	0.00024832	0	0
METTL2A	339175	broad.mit.edu	37	17	60501296	60501296	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:60501296A>G	uc002izv.2	+	0	51	c.33A>G	c.(31-33)gcA>gcG	p.A11A	METTL2A_uc002izw.3_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	11							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GTGCACCTGCAGTCCTCGCCG	0.597000											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			19		0	0	0.000132079	0	0
OR8I2	120586	broad.mit.edu	37	11	55861472	55861472	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:55861472C>G	uc010rix.2	+	0	689	c.689C>G	c.(688-690)gCa>gGa	p.A230G		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A230E(2)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCCAGTCAGCAGCAGGCAGG	0.468000														56			21		0	0	3.10358e-05	0	0
PLCL2	23228	broad.mit.edu	37	3	17051783	17051783	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:17051783G>T	uc011awc.2	+	2	1017	c.921G>T	c.(919-921)ttG>ttT	p.L307F	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.L189F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	315					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TCAAAGAATTGCATAAATCAA	0.348000														95			46		1.7489e-18	1.43608e-16	0.000106405	1	0
STEAP2	261729	broad.mit.edu	37	7	89859255	89859255	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:89859255G>C	uc010len.3	+	4	1596	c.1090G>C	c.(1090-1092)Ggc>Cgc	p.G364R	STEAP2_uc003uka.3_Missense_Mutation_p.G364R|STEAP2_uc003ujz.3_Missense_Mutation_p.G364R|STEAP2_uc003ukc.3_Missense_Mutation_p.G364R|STEAP2_uc003ukb.3_Missense_Mutation_p.G364R|STEAP2_uc003ukd.3_Missense_Mutation_p.G364R	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	364	Ferric oxidoreductase.				Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	p.F363I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATCTCCTTTGGCATAATGAG	0.378000														210			4		0	0	0.00024832	0	0
SLC4A2	6522	broad.mit.edu	37	7	150769158	150769158	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:150769158C>A	uc022apz.1	+	15	3510	c.2470C>A	c.(2470-2472)Cag>Aag	p.Q824K	SLC4A2_uc003wit.4_Missense_Mutation_p.Q824K|SLC4A2_uc011kve.2_Missense_Mutation_p.Q815K|SLC4A2_uc003wiu.4_Missense_Mutation_p.Q810K	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	824	Membrane (anion exchange).			Q -> R (in Ref. 1; CAA44067 and 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCTTCACCCAGGAGATCTT	0.617000														295			9		6.40141e-05	0.00479259	6.40141e-05	1	0
DSCAML1	57453	broad.mit.edu	37	11	117375681	117375681	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:117375681C>T	uc001prh.1	-	9	2322	c.2320G>A	c.(2320-2322)Gac>Aac	p.D774N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	714	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGTAGCCGTCCACCGAGCAG	0.602000														31			25		0	0	5.49717e-05	0	0
MED24	9862	broad.mit.edu	37	17	38182477	38182477	+	Silent	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:38182477C>T	uc002hts.3	-	17	2192	c.1992G>A	c.(1990-1992)tcG>tcA	p.S664S	MED24_uc010wer.2_5'Flank|MED24_uc010wes.2_Silent_p.S499S|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.S639S|MED24_uc002htu.3_Silent_p.S626S|MED24_uc010cwn.3_Silent_p.S626S|MED24_uc010weu.2_Silent_p.S549S|MED24_uc010wev.1_Silent_p.S589S|MED24_uc010wew.1_Silent_p.S580S|SNORD124_uc010wey.2_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	639					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCATCTGCAGCGACTTCTCAC	0.567000														130			41		0	0	0.000191422	0	0
AP3M1	26985	broad.mit.edu	37	10	75898090	75898090	+	Silent	SNP	T	C	C	rs147488745		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr10:75898090T>C	uc001jwf.3	-	1	478	c.48A>G	c.(46-48)ctA>ctG	p.L16L	AP3M1_uc001jwg.3_Silent_p.L16L|AP3M1_uc001jwh.3_Silent_p.L16L|AP3M1_uc010qla.2_Silent_p.L16L	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	16					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGTGCTTCTCTAGAAATATGT	0.358000														35			38		0	0	7.51294e-05	0	0
CCP110	9738	broad.mit.edu	37	16	19548870	19548870	+	Missense_Mutation	SNP	T	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr16:19548870T>A	uc002dgl.4	+	3	2126	c.1879T>A	c.(1879-1881)Ttc>Atc	p.F627I	CCP110_uc002dgk.4_Missense_Mutation_p.F627I	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	627					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GGGATCTGGCTTCGTTAACAA	0.348000														33			22		0	0	0.000229342	0	0
INSRR	3645	broad.mit.edu	37	1	156818724	156818724	+	Silent	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr1:156818724G>A	uc010pht.2	-	6	1859	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	520	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACTCCTTGTAGTACACGATGA	0.672000														5			3		0	0	6.4e-05	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076186	57076186	+	Silent	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:57076186C>T	uc001njr.3	-	4	4311	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G	TNKS1BP1_uc001njs.3_Silent_p.G1333G|TNKS1BP1_uc009ymd.1_Silent_p.G784G	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1333	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCCCCGTAGCCCCTGAGAAC	0.607000														106			71		0	0	0.000147903	0	0
ERC2	26059	broad.mit.edu	37	3	56330164	56330164	+	Silent	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:56330164G>T	uc021wzo.1	-	1	1097	c.957C>A	c.(955-957)tcC>tcA	p.S319S	ERC2_uc003dhr.1_Silent_p.S319S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	319						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.P318S(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCAGGCTTTTGGATGGCAAGC	0.453000														462			9		1.58986e-06	0.000124523	3.86212e-05	1	0
RIN2	54453	broad.mit.edu	37	20	19955386	19955386	+	Silent	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr20:19955386C>T	uc002wro.2	+	7	1013	c.864C>T	c.(862-864)tcC>tcT	p.S288S	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Silent_p.S33S	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	239					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GTCCTGCCTCCCTGCGTCAGC	0.547000														32			31		0	0	0.000227799	0	0
LOC440041	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	G	G	rs4100282		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr11:55065601C>G	uc021qjb.1	-	0		c.108G>C			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CACTGAGCAACAACTGCCATG	0.488000														25			3		0	0	6.4e-05	0	0
MDFI	4188	broad.mit.edu	37	6	41614025	41614025	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr6:41614025G>A	uc003oqq.4	+	2	445	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	MDFI_uc010jxn.3_Missense_Mutation_p.V80I	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	80					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TGACCTCGACGTCCCCACAGA	0.627000														13			15		0	0	0.000219431	0	0
CCM2	83605	broad.mit.edu	37	7	45112359	45112359	+	Silent	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:45112359C>T	uc003tms.3	+	6	914	c.843C>T	c.(841-843)acC>acT	p.T281T	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.T260T|CCM2_uc003tmp.3_Silent_p.T202T|CCM2_uc003tmr.3_Silent_p.T169T|CCM2_uc011kcc.2_3'UTR	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	260					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTAAGGAGACCTACGAGGTGG	0.507000														99			31		0	0	0.000159656	0	0
LOC442459	442459	broad.mit.edu	37	X	98975171	98975171	+	RNA	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chrX:98975171C>T	uc011mrd.1	-	7		c.1172G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		CTTCTGTTTCCTCTTTCTCCA	0.453000														3			12		0	0	0.00010058	0	0
BAZ1A	11177	broad.mit.edu	37	14	35242930	35242930	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:35242930A>G	uc001wsk.3	-	19	3568	c.3000T>C	c.(2998-3000)gtT>gtC	p.V1000V	BAZ1A_uc001wsl.3_Silent_p.V968V	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1000					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTCGATCTGTAACCTGTAACA	0.323000														16			19		0	0	4.16121e-05	0	0
DCHS2	54798	broad.mit.edu	37	4	155256161	155256161	+	Missense_Mutation	SNP	T	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr4:155256161T>G	uc003inw.2	-	7	1075	c.1075A>C	c.(1075-1077)Att>Ctt	p.I359L	DCHS2_uc003inx.2_Missense_Mutation_p.I858L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	359	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCGGCATTAATGACAGCTGTG	0.433000														44			42		0	0	0.000147903	0	0
ITGB3	3690	broad.mit.edu	37	17	45369560	45369560	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:45369560C>T	uc002ilj.3	+	9	1336	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	439					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AAGGAGAAGTCCTTTACCATA	0.522000														32			58		0	0	0.000147903	0	0
SRSF7	6432	broad.mit.edu	37	2	38978383	38978383	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:38978383G>A	uc002rqz.3	-	0	254	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	SRSF7_uc010ynp.2_Missense_Mutation_p.R6W|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	6					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTCCGTACCGCCCGTAACGC	0.627000														35			27		0	0	0.000227799	0	0
HPS3	84343	broad.mit.edu	37	3	148885021	148885021	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:148885021G>T	uc003ewu.1	+	14	2930	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.E765D|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	930						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAAGAAGAGAACCGGGTAT	0.403000									Hermansky-Pudlak syndrome					18			23		5.26018e-13	4.25072e-11	0.000229342	1	0
CCDC90A	63933	broad.mit.edu	37	6	13800602	13800602	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr6:13800602C>T	uc003nbc.2	-	4	885	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	252						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				TGATGTAGTTCGAGTTTTATT	0.244000														10			8		0	0	1.12685e-05	0	0
ESR2	2100	broad.mit.edu	37	14	64746749	64746749	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:64746749C>G	uc001xha.1	-	2	953	c.485G>C	c.(484-486)gGa>gCa	p.G162A	ESR2_uc001xgy.2_Missense_Mutation_p.G162A|ESR2_uc001xgu.3_Missense_Mutation_p.G162A|ESR2_uc001xgv.3_Missense_Mutation_p.G162A|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.G162A|ESR2_uc010aqb.1_Intron|ESR2_uc010aqc.1_Missense_Mutation_p.G162A|ESR2_uc001xgz.2_Missense_Mutation_p.G162A	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	162					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CGACCAGACTCCATAGTGATA	0.453000														157			120		0	0	0.000147903	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938448	30938448	+	RNA	SNP	A	G	G	rs146574312	by1000genomes	TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr15:30938448A>G	uc010azv.1	+	10		c.1258A>G			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTATTTGTGCATGGTGGCTGG	0.483000														34			4		0	0	0.000157383	0	0
ZNF284	342909	broad.mit.edu	37	19	44590761	44590761	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr19:44590761G>C	uc002oyg.1	+	4	1346	c.1130G>C	c.(1129-1131)gGg>gCg	p.G377A	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATGTATGTGGGAAGGGCTTC	0.428000														98			3		0	0	0.00024832	0	0
ABCA5	23461	broad.mit.edu	37	17	67303077	67303077	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:67303077G>A	uc002jif.2	-	4	1795	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	ABCA5_uc002jig.2_Missense_Mutation_p.L193F|ABCA5_uc002jih.2_Missense_Mutation_p.L193F|ABCA5_uc010dfe.2_Missense_Mutation_p.L193F	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	193					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCCTTCCAAAGAGAAACATTG	0.348000														61			32		0	0	7.24521e-05	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86332283	86332283	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr6:86332283C>A	uc003pla.2	-	7	1466	c.925G>T	c.(925-927)Ggt>Tgt	p.G309C	SYNCRIP_uc003pku.3_Missense_Mutation_p.G309C|SYNCRIP_uc003pkv.3_Missense_Mutation_p.G309C|SYNCRIP_uc003pkw.3_Intron|SYNCRIP_uc003pkx.3_Missense_Mutation_p.G157C|SYNCRIP_uc003pky.3_Missense_Mutation_p.G211C|SYNCRIP_uc003pkz.2_Intron	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	309	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTGACTTTACCACTCATTAAC	0.428000														211			10		3.86212e-05	0.0029791	3.86212e-05	1	0
NOTUM	147111	broad.mit.edu	37	17	79913365	79913365	+	Silent	SNP	G	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:79913365G>A	uc010wvg.2	-	8	1316	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	348						extracellular region	hydrolase activity	p.W348L(1)|p.W348*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCAGGTGCACGTTGTCCACCG	0.687000														31			19		0	0	9.7654e-05	0	0
KY	339855	broad.mit.edu	37	3	134323200	134323200	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr3:134323200C>A	uc010hty.3	-	10	1269	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Nonsense_Mutation_p.E382*	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	403						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GGGTACACCTCCAACTTCATC	0.542000														37			83		1.44182e-19	1.20333e-17	0.000147903	1	0
NEK2	4751	broad.mit.edu	37	1	211843673	211843673	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr1:211843673G>C	uc001hir.2	-	4	866	c.715C>G	c.(715-717)Cgt>Ggt	p.R239G	NEK2_uc021piq.1_Missense_Mutation_p.R239G|NEK2_uc021pir.1_5'UTR|NEK2_uc001his.4_Missense_Mutation_p.R239G|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	239	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	p.R239S(2)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TCAGAGTAACGGTATGGAATT	0.363000														181			4		0	0	1.23904e-05	0	0
SRSF7	6432	broad.mit.edu	37	2	38978384	38978384	+	Silent	SNP	C	A	A			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:38978384C>A	uc002rqz.3	-	0	253	c.15G>T	c.(13-15)ggG>ggT	p.G5G	SRSF7_uc010ynp.2_Silent_p.G5G|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	5					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCGTACCGCCCGTAACGCG	0.622000														37			25		2.24059e-21	1.93337e-19	0.000147802	1	0
ICK	22858	broad.mit.edu	37	6	52878690	52878690	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr6:52878690G>C	uc003pbh.2	-	9	1412	c.922C>G	c.(922-924)Ctg>Gtg	p.L308V	ICK_uc003pbi.2_Missense_Mutation_p.L308V	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	308					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCTTTTCCAGGATGCCTTTC	0.512000														18			23		0	0	0.000229342	0	0
SPECC1	92521	broad.mit.edu	37	17	20108298	20108298	+	Silent	SNP	A	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:20108298A>G	uc002gwq.3	+	3	1046	c.936A>G	c.(934-936)tcA>tcG	p.S312S	SPECC1_uc010cqx.3_Silent_p.S312S|SPECC1_uc002gwr.3_Silent_p.S312S|SPECC1_uc002gws.3_Silent_p.S312S|SPECC1_uc002gwv.3_Silent_p.S231S|SPECC1_uc010vzf.2_Intron|SPECC1_uc002gwu.3_Silent_p.S231S|SPECC1_uc002gwt.3_Silent_p.S231S	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	312	Ser-rich.					nucleus		p.S312P(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TACGGACATCAGGCTCCTCAA	0.458000														208			5		0	0	3.59834e-05	0	0
LAMP1	3916	broad.mit.edu	37	13	113964011	113964011	+	Silent	SNP	C	T	T			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr13:113964011C>T	uc001vtm.1	+	2	518	c.237C>T	c.(235-237)tcC>tcT	p.S79S	LAMP1_uc010tka.1_Silent_p.S79S	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	79	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCGCAGCTCCTGTGGAAAAG	0.448000														38			50		0	0	0.000147903	0	0
HSF5	124535	broad.mit.edu	37	17	56540550	56540550	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr17:56540550C>G	uc002iwi.1	-	3	1259	c.1135G>C	c.(1135-1137)Gtt>Ctt	p.V379L		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTCATCAACTATCTGAAAG	0.438000														132			57		0	0	0.000147903	0	0
C2orf55	343990	broad.mit.edu	37	2	99413866	99413867	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr2:99413866_99413867delGT	uc002szf.1	-	7	2844_2845	c.2550_2551delAC	c.(2548-2553)gcacggfs	p.A850fs		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	850										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TTCAGGGTCCGTGCCCCAGGCT	0.619													---	61	---	---	42	---					
HIP1	3092	broad.mit.edu	37	7	75168684	75168684	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:75168684delT	uc003uds.2	-	29	3065	c.3020delA	c.(3019-3021)aagfs	p.K1007fs	HIP1_uc011kfz.2_Frame_Shift_Del_p.K956fs	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	1007	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.R1007L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCGTAGTGCTTTTTCCGAAG	0.507			T	PDGFRB	CMML								---	834	---	---	8	---					
PDK4	5166	broad.mit.edu	37	7	95221864	95221872	+	In_Frame_Del	DEL	CCAATGTGG	-	-	rs138077797		TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr7:95221864_95221872delCCAATGTGG	uc003uoa.3	-	4	887_895	c.567_575delCCACATTGG	c.(565-576)agccacattgga>aga	p.189_192SHIG>R	PDK4_uc003unz.3_5'UTR	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	189	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATCAATGCTTCCAATGTGGCTTGGGTTTC	0.321													---	127	---	---	78	---					
ARID4A	5926	broad.mit.edu	37	14	58827698	58827698	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chr14:58827698delC	uc001xdp.3	+	18	2272	c.2018delC	c.(2017-2019)tcafs	p.S673fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.S673fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.S673fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.S351fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	673					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTTTAAAATCAACCCTCTCA	0.433													---	73	---	---	59	---					
KDM6A	7403	broad.mit.edu	37	X	44920581	44920581	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chrX:44920581delA	uc011mkz.2	+	14	1873	c.1498delA	c.(1498-1500)aatfs	p.N500fs	KDM6A_uc022bvi.1_Frame_Shift_Del_p.N152fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.N448fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.N448fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.N403fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.N455fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.N152fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.N403fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.N121fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	448					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TACTTCTGACAATTGGAGTGG	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								---	1	---	---	14	---					
EMD	2010	broad.mit.edu	37	X	153609241	153609241	+	Splice_Site	DEL	G	-	-			TCGA-HE-7129-01A-11D-1961-08	TCGA-HE-7129-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c56f3efb-5a25-4967-b817-44b1eb9f440a	3c6e3907-3f31-4a91-825b-87070d603395	g.chrX:153609241delG	uc004fkl.3	+	6	698	c.450_splice	c.e6-1	p.R150_splice		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	150	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					TTTTGCCTCAGGGAACGCCCC	0.622													---	5	---	---	40	---					
