Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													10	71					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161217017	161217017	+	Silent	SNP	C	C	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:161217017C>A	ENST00000327928.4	+	2	423	c.423C>A	c.(421-423)ccC>ccA	p.P141P		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	141	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGTTGGGCCCCAAGGCCCTA	0.433000													3	25					0.004672	0.00495804	1	1	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	87					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264220	1264220	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:1264220C>T	ENST00000447027.1	+	31	6177	c.6119C>T	c.(6118-6120)gCc>gTc	p.A2040V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A2037V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2037	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTCTGTGGCCACCCCCTCC	0.647000													5	118					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													4	62					0.150653	0.150653	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112466059	112466059	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:112466059G>T	ENST00000230538.7	-	19	2827	c.2430C>A	c.(2428-2430)aaC>aaA	p.N810K	LAMA4_ENST00000389463.4_Missense_Mutation_p.N803K|LAMA4_ENST00000522006.1_Missense_Mutation_p.N803K|LAMA4_ENST00000424408.2_Missense_Mutation_p.N803K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	810	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGGCAGAAACGTTGCTTGCAG	0.478000													26	46					4.26978e-12	4.62559e-12	1	1	0
LRFN4	78999	broad.mit.edu	37	11	66627470	66627470	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:66627470A>C	ENST00000309602.4	+	2	1955	c.1712A>C	c.(1711-1713)cAc>cCc	p.H571P	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	571						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCAAGGCCCAcccgccgcgg	0.731000													6	10					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66114749	66114749	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:66114749T>C	ENST00000311181.4	-	1	414	c.268A>G	c.(268-270)Atg>Gtg	p.M90V		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	90					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTGGGGTCCATGGTGGTCTTC	0.682000													2	1					0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11557156	11557156	+	Silent	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:11557156G>A	ENST00000252455.2	+	9	1089	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PRKCSH_ENST00000591462.1_Silent_p.A251A|PRKCSH_ENST00000589838.1_Silent_p.A251A|PRKCSH_ENST00000412601.1_Silent_p.A251A|PRKCSH_ENST00000592741.1_Silent_p.A251A|PRKCSH_ENST00000587327.1_Silent_p.A251A	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	251	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TGTCAGAAGCGGAAGCTCAGG	0.647000													3	19					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	76					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35425751	35425751	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:35425751G>A	ENST00000287272.2	+	3	478	c.458G>A	c.(457-459)cGc>cAc	p.R153H	UNC5D_ENST00000453357.2_Missense_Mutation_p.R148H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R153H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R153H|UNC5D_ENST00000404895.2_Missense_Mutation_p.R153H			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	153	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCCTCTGTGCGCATAGCCTGT	0.517000													4	102					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141702	3141702	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:3141702A>T	ENST00000602557.1	-	27	4675	c.4120T>A	c.(4120-4122)Ttc>Atc	p.F1374I	CSMD1_ENST00000400186.3_Missense_Mutation_p.F1374I|CSMD1_ENST00000542608.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1373I|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1374I|CSMD1_ENST00000520002.1_Missense_Mutation_p.F1374I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1374	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGCTGATGAAGAAGTCGCTG	0.522000													3	4					0	0	1	0	0
ATXN7L1	222255	broad.mit.edu	37	7	105516315	105516315	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:105516315C>T	ENST00000419735.3	-	2	238	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	ATXN7L1_ENST00000478915.1_Intron|ATXN7L1_ENST00000318724.4_Missense_Mutation_p.E65K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	65										endometrium(1)|large_intestine(4)|lung(5)	10						CCAGCCTCTTCTAAATCTACA	0.413000													98	145					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154600394	154600394	+	Silent	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:154600394T>C	ENST00000292205.5	-	1	80	c.81A>G	c.(79-81)ggA>ggG	p.G27G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCCGCGACCCTCCCCCCACCC	0.652000													6	30					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288340	122288340	+	Silent	SNP	C	C	A	rs148416505		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:122288340C>A	ENST00000296161.4	+	3	1593	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	468					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		TACATCAGACCAAGTTTGCTG	0.398000													4	135					0.150653	0.150653	1	1	0
ENTPD7	57089	broad.mit.edu	37	10	101464274	101464274	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:101464274A>G	ENST00000370489.4	+	13	1827	c.1649A>G	c.(1648-1650)aAc>aGc	p.N550S	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	550						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTTGTATACAACCACTATCTC	0.493000													8	91					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145664079	145664079	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:145664079T>A	ENST00000409379.3	-	12	1549	c.1520A>T	c.(1519-1521)gAc>gTc	p.D507V	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	507	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAGCTCCTCGTCCTCCTCCAG	0.692000													6	17					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764534	205764534	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:205764534C>T	ENST00000367137.3	-	9	2159	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	382						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGTTCTCTCCGGGCATTCC	0.607000													15	24					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99657627	99657627	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chrX:99657627G>C	ENST00000373034.4	-	3	4186	c.2511C>G	c.(2509-2511)aaC>aaG	p.N837K	PCDH19_ENST00000255531.7_Missense_Mutation_p.N790K|PCDH19_ENST00000420881.2_Missense_Mutation_p.N790K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	837					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGTATTCTGGTTCTCCACAT	0.567000													22	3					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33456283	33456283	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr5:33456283G>C	ENST00000265112.3	+	8	1099	c.788G>C	c.(787-789)gGt>gCt	p.G263A	TARS_ENST00000502553.1_Missense_Mutation_p.G263A|TARS_ENST00000541634.1_Missense_Mutation_p.G159A|TARS_ENST00000414361.2_Missense_Mutation_p.G142A|TARS_ENST00000455217.2_Missense_Mutation_p.G296A	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	263					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CTCTGCCGGGGTCCTCATGTT	0.328000													11	16					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			68	83					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24745946	24745946	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:24745946T>C	ENST00000545231.1	-	10	1698	c.548A>G	c.(547-549)gAg>gGg	p.E183G	DFNA5_ENST00000419307.1_Missense_Mutation_p.E183G|DFNA5_ENST00000342947.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409775.3_Missense_Mutation_p.E347G|DFNA5_ENST00000409970.1_Missense_Mutation_p.E183G			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	347					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGGCTTCAGCTCCCCCAGCAC	0.662000													6	22					0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18354672	18354672	+	Silent	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:18354672A>G	ENST00000265963.4	+	2	211	c.51A>G	c.(49-51)caA>caG	p.Q17Q	GTF2H1_ENST00000453096.2_Silent_p.Q17Q|GTF2H1_ENST00000534641.1_5'UTR|GTF2H1_ENST00000531757.1_3'UTR	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	17					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAGTGCGTCAAAAGAAGCAGG	0.393000								Nucleotide excision repair (NER)					12	103					0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106058999	106058999	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:106058999A>G	ENST00000450629.2	+	6	1215	c.587A>G	c.(586-588)tAt>tGt	p.Y196C	GSTO2_ENST00000429569.2_3'UTR|GSTO2_ENST00000369707.1_Missense_Mutation_p.Y202C|GSTO2_ENST00000338595.2_Missense_Mutation_p.Y230C	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	230	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TTGAATCTCTATTTTCAGAAC	0.517000													28	79					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537000													29	53					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213178773	213178773	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:213178773G>A	ENST00000366962.3	-	5	890	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120W|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77W|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77W	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTTCCTGTCCGCATCTTATAT	0.368000													5	101					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872565	55872565	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:55872565T>A	ENST00000313503.1	+	1	47	c.47T>A	c.(46-48)aTg>aAg	p.M16K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTCATCCTTATGGGACTGACA	0.433000										HNSCC(53;0.14)			34	235					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537590	95537590	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:95537590G>A	ENST00000295201.4	+	1	403	c.266G>A	c.(265-267)cGc>cAc	p.R89H	TEKT4_ENST00000427593.2_Missense_Mutation_p.R89H|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	89					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACTCCACGCGCACAGTGGGC	0.692000													3	20					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375994	2375994	+	Silent	SNP	C	C	T			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:2375994C>T	ENST00000202625.2	+	3	397	c.336C>T	c.(334-336)taC>taT	p.Y112Y	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.Y112Y	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	112					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTGGCCGCTACCTGCTGAGCA	0.597000													36	50					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	34					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	472948	472948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:472948G>A	ENST00000217244.3	-	9	946	c.571C>T	c.(571-573)Cga>Tga	p.R191*	CSNK2A1_ENST00000400217.1_Nonsense_Mutation_p.R55*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R191*|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R191*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	191	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GAAGCAACTCGGACATTATAT	0.413000													16	30					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309874	48309874	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr3:48309874C>G	ENST00000354698.3	+	4	765	c.693C>G	c.(691-693)ttC>ttG	p.F231L	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	231					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAACCTGTTCAGACAGAAGG	0.498000													4	115					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	24					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112308	57112308	+	Silent	SNP	A	A	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652000			T	BCL6	NHL								10	90					0	0	1	0	0
PCDHA10	0	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687000													4	80					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37946000	37946000	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:37946000G>A	ENST00000373087.6	+	3	669	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	185					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAGGAAGGAGCAGCCTCG	0.622000													18	28					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221055517	221055517	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:221055517G>A	ENST00000366903.6	+	3	2285	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	HLX_ENST00000549319.1_Missense_Mutation_p.V48M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	262					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TCCCTATGCTGTGCTCACGAA	0.587000													3	26					0	0	1	0	0
IGKV1-9	0	broad.mit.edu	37	2	89309919	89309919	+	RNA	SNP	G	G	A			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:89309919G>A	ENST00000493819.1	-	0	93																											AGAGCAGCAGGAGCCCCAGGA	0.552000													64	95					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527000													4	5					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842242	154842244	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr1:154842242_154842244delGAA	ENST00000271915.3	-	1	512_514	c.197_199delTTC	c.(196-201)cag>c	p.LQ66del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			tgctgctgctgaagctgcggagg	0.700													3	6	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85361493	85361494	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr2:85361493_85361494delGG	ENST00000282111.3	+	3	636_637	c.361_362delGG	c.(361-363)gfs	p.G121fs	TCF7L1_ENST00000494519.1_3'UTR	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	121	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCGTACCCTGGGTACCCCTTC	0.673													2	4	---	---	---	---					
PGRMC2	10424	broad.mit.edu	37	4	129208971	129208974	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:129208971_129208974delCCTC	ENST00000520121.1	-	1	1010_1013	c.44_47delGAGG	c.(43-48)gafs	p.GG17fs	PGRMC2_ENST00000512483.1_Intron	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		CCTTCCTCCTCCTCCCCGCCCCCT	0.721													2	4	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs71855026		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)caa>ca	p.QQQ507del	MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515													15	91	---	---	---	---					
AC004540.5	0	broad.mit.edu	37	7	26518706	26518706	+	RNA	DEL	C	C	-	rs35749684		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr7:26518706delC	ENST00000418758.2	+	0	468																											acctggccttccccctcttct	0.602													2	4	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
AGAP11	119385	broad.mit.edu	37	10	88767684	88767687	+	RNA	DEL	TCTT	TCTT	-	rs71019446		TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr10:88767684_88767687delTCTT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCtttttttttttt	0.417													2	4	---	---	---	---					
SLC22A24	283238	broad.mit.edu	37	11	62850732	62850732	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr11:62850732delT	ENST00000417740.1	-	7	1709	c.1268delA	c.(1267-1269)acfs	p.N423fs		NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						CAAAAAGGTGTTGACCAGAAT	0.458													2	4	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													20	48	---	---	---	---					
FSCB	84075	broad.mit.edu	37	14	44974154	44974155	+	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	rs71108655	byFrequency	TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	ENST00000340446.4	-	1	2327_2328	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc	p.678_679insPLKFSLHQLRRP		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	678	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGGGCCTCCTC	0.604													10	18	---	---	---	---					
NPIPA5	100288332	broad.mit.edu	37	16	15457598	15457609	+	In_Frame_Del	DEL	GCTGAGGGTGGA	GCTGAGGGTGGA	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr16:15457598_15457609delGCTGAGGGTGGA	ENST00000360151.4	-	8	959_970	c.960_971delTCCACCCTCAGC	c.(958-972)gcg>gc	p.APPSA320del		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5																		ATTATCATCCGCTGAGGGTGGAGCTGAGGGTG	0.509													5	11	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10262139	10262139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr19:10262139delT	ENST00000340748.4	-	23	2387	c.2152delA	c.(2152-2154)tgfs	p.M718fs	DNMT1_ENST00000359526.4_Frame_Shift_Del_p.M734fs|DNMT1_ENST00000540357.1_Frame_Shift_Del_p.M718fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	718					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTGGTGCATTTTTTTGGGT	0.507													7	200	---	---	---	---					
RBBP8NL	140893	broad.mit.edu	37	20	60989556	60989556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr20:60989556delG	ENST00000252998.1	-	10	1007	c.851delC	c.(850-852)cgfs	p.P284fs		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		GTCCACCTTCGGGGAGAGCTT	0.701													2	4	---	---	---	---					
AIFM3	150209	broad.mit.edu	37	22	21327670	21327670	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DJ-A3VG-01A-11D-A23M-08	TCGA-DJ-A3VG-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58e32653-08d3-451a-9b21-cbb16a26d56b	45361d23-f9aa-4620-822d-3a31653f32de	g.chr22:21327670delA	ENST00000399167.2	+	3	346	c.106delA	c.(106-108)gcfs	p.S36fs	AIFM3_ENST00000399163.2_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000335375.5_Frame_Shift_Del_p.A61fs|AIFM3_ENST00000333607.6_Frame_Shift_Del_p.S36fs|AIFM3_ENST00000405089.1_Frame_Shift_Del_p.S42fs|AIFM3_ENST00000440238.2_Frame_Shift_Del_p.S36fs	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGAAGGGCAGCCCCCGGGC	0.677													5	9	---	---	---	---					
