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
NBPF20	100288142	broad.mit.edu	37	1	148344686	148344686	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:148344686T>C	ENST00000369202.1	-	3	429	c.232A>G	c.(232-234)Aag>Gag	p.K78E	NBPF20_ENST00000414710.2_Missense_Mutation_p.K78E					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TTCTCCTCCTTGAACTGTCGC	0.522000													28	719					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7346396	7346396	+	Splice_Site	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7346396G>A	ENST00000293829.4	+	5	1203	c.607_splice	c.e5-1	p.V203_splice	FGF11_ENST00000572907.1_Splice_Site_p.V79_splice|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575331.1_3'UTR|FGF11_ENST00000575235.1_Splice_Site_p.V79_splice|FGF11_ENST00000575398.1_Splice_Site_p.V79_splice|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575082.1_Splice_Site_p.V79_splice	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	203					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CCTTCACAGTGGCCATGTACC	0.597000													14	17					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7848318	7848318	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:7848318G>A	ENST00000329913.3	-	1	54	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	3					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCAAGAAACGAAGCATGGCC	0.468000													9	26					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35262323	35262323	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr6:35262323A>C	ENST00000373953.3	+	13	1851	c.1585A>C	c.(1585-1587)Aac>Cac	p.N529H	ZNF76_ENST00000440666.2_Missense_Mutation_p.N503H|ZNF76_ENST00000339411.5_Missense_Mutation_p.N474H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	529					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GGCCACAGCCAACGGAACGCA	0.517000											OREG0017373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096475	73096475	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:73096475C>T	ENST00000450736.2	+	4	1132	c.717C>T	c.(715-717)tgC>tgT	p.C239C	SLC16A5_ENST00000538213.2_Silent_p.C279C|SLC16A5_ENST00000580123.1_Silent_p.C239C|SLC16A5_ENST00000329783.4_Silent_p.C239C			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	239					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGGCTACTGCGTGTACATAC	0.627000													28	18					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343909	72343909	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr18:72343909G>A	ENST00000299687.5	+	1	934	c.934G>A	c.(934-936)Gca>Aca	p.A312T	ZNF407_ENST00000577538.1_Missense_Mutation_p.A312T|ZNF407_ENST00000309902.6_Missense_Mutation_p.A312T|ZNF407_ENST00000582337.1_Missense_Mutation_p.A312T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAAATCAATAGCAAAGAATAG	0.333000													45	44					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048505	238048505	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:238048505A>T	ENST00000366570.4	-	9	1429	c.1271T>A	c.(1270-1272)tTt>tAt	p.F424Y	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	424	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTCACAAAGCTGAAGGT	0.527000													6	55					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392063	45392063	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:45392063T>A	ENST00000389039.6	-	25	3597	c.3212A>T	c.(3211-3213)gAc>gTc	p.D1071V	DUOX2_ENST00000603300.1_Missense_Mutation_p.D1071V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1071	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGTGCAATGTCCGAGGGTGG	0.607000													8	24					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33702228	33702228	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:33702228C>T	ENST00000253188.3	-	7	1065	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	307					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGCTTCTCCCCGAAGGTCTGG	0.622000													9	90					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513437	33513437	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:33513437G>C	ENST00000268876.5	+	20	2752	c.2655G>C	c.(2653-2655)aaG>aaC	p.K885N	UNC45B_ENST00000591048.1_Missense_Mutation_p.K804N|UNC45B_ENST00000378449.1_Missense_Mutation_p.K804N|UNC45B_ENST00000433649.1_Missense_Mutation_p.K883N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K883N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	885					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCCAAGAAGCTGGTGGAGA	0.582000													14	17					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814525	156814525	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:156814525C>T	ENST00000368195.3	-	13	2944	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	850	Fibronectin type-III 3.				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)					TACTTGATTTCGTACTTGAGG	0.607000													6	105					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	44997569	44997569	+	Silent	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr20:44997569A>G	ENST00000372176.1	-	21	2127	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	ELMO2_ENST00000290246.6_Silent_p.P641P|ELMO2_ENST00000454865.2_Silent_p.P373P|ELMO2_ENST00000352077.2_Silent_p.P639P|ELMO2_ENST00000396391.1_Silent_p.P641P|ELMO2_ENST00000439931.2_Silent_p.P653P|ELMO2_ENST00000445496.2_Silent_p.P458P			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	641	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGGTCTCATCAGGGTCATACA	0.468000													4	174					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114189210	114189210	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:114189210A>G	ENST00000369615.1	+	12	2163	c.2101A>G	c.(2101-2103)Aaa>Gaa	p.K701E	MAGI3_ENST00000307546.9_Missense_Mutation_p.K701E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K701E|MAGI3_ENST00000369617.4_Missense_Mutation_p.K726E	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	726					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGATCCCCAAAATTGGATCC	0.383000													23	116					0	0	1	0	0
MGP	4256	broad.mit.edu	37	12	15038675	15038675	+	Silent	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:15038675A>C	ENST00000539261.1	-	1	185	c.51T>G	c.(49-51)acT>acG	p.T17T	MGP_ENST00000228938.5_Silent_p.T17T|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	17					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATAACACAAAGTTACTACCG	0.473000													20	16					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055263	36055263	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:36055263G>A	ENST00000409652.3	+	3	928	c.652G>A	c.(652-654)Gtg>Atg	p.V218M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	218					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CCGCGTGCAGGTGCAAAAGGC	0.582000													4	80					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110412313	110412313	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:110412313G>A	ENST00000378402.5	+	13	1125	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	341	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGAGGGAGAGGCCTGAAGCT	0.403000										HNSCC(38;0.096)			76	98					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14877435	14877435	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:14877435G>T	ENST00000398334.1	-	4	1240	c.973C>A	c.(973-975)Ctt>Att	p.L325I	FANCB_ENST00000324138.3_Missense_Mutation_p.L325I	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	325					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTAAGCTAAGTTTTTCCCAT	0.343000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	10					7.03913e-09	7.47907e-09	1	1	0
NFE2	4778	broad.mit.edu	37	12	54689025	54689025	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:54689025G>A	ENST00000540264.2	-	1	517	c.8C>T	c.(7-9)cCg>cTg	p.P3L	NFE2_ENST00000553070.1_Missense_Mutation_p.P3L|NFE2_ENST00000435572.2_Missense_Mutation_p.P3L|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.P3L			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	3	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGAGGACACGGGGACATCCT	0.547000													16	28					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16890645	16890645	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:16890645T>A	ENST00000430580.2	-	29	4100	c.3213A>T	c.(3211-3213)gaA>gaT	p.E1071D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1051	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTGCAAGACTTCAGGCTCTT	0.468000													27	1998					0	0	1	0	0
ARHGAP8	23779	broad.mit.edu	37	22	45244837	45244837	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:45244837C>T	ENST00000517296.3	+	15	1404	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	ARHGAP8_ENST00000389773.5_Silent_p.Y380Y|ARHGAP8_ENST00000389774.2_Silent_p.Y289Y|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.Y389Y|ARHGAP8_ENST00000356099.6_Silent_p.Y258Y|ARHGAP8_ENST00000336963.4_Silent_p.Y258Y|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.Y468Y					Rho GTPase activating protein 8											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TTGACGACTACGGGGACATTC	0.607000													80	57					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	679148	679148	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:679148G>A	ENST00000301329.6	-	4	358	c.273C>T	c.(271-273)ctC>ctT	p.L91L	GLOD4_ENST00000301328.5_Silent_p.L106L|GLOD4_ENST00000536578.1_Silent_p.L82L	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	106						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCTAGAAGCGAGCGTGATTC	0.493000													19	79					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409574	130409574	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:130409574C>T	ENST00000370904.1	-	22	3945	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1026E|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1012E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1021E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1021	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGGGAATGCCCCGTCATTACT	0.522000													44	23					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55718097	55718097	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55718097G>A	ENST00000376350.3	-	3	334	c.312C>T	c.(310-312)gaC>gaT	p.D104D	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.D104D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	104	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D104D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TATTTACTCCGTCTTTCTCCA	0.507000													46	212					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158525196	158525196	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr3:158525196C>T	ENST00000415822.2	+	5	672	c.531C>T	c.(529-531)gcC>gcT	p.A177A	MFSD1_ENST00000392813.4_Silent_p.A138A|MFSD1_ENST00000264266.8_Silent_p.A128A	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	128					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGTTTTTGCCCTGGGTGGAA	0.279000													4	164					0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829175	115829175	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:115829175C>A	ENST00000369512.2	-	3	410	c.242G>T	c.(241-243)cGa>cTa	p.R81L	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGAACGGAGTCGCCGCTTTTT	0.642000													7	37					0.0381472	0.0386014	1	1	0
PIPSL	266971	broad.mit.edu	37	10	95720745	95720745	+	RNA	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr10:95720745C>A	ENST00000480546.1	-	0	552					NR_002319.2																						ACAATGAACTCATCGTCGCTG	0.493000													9	35					0.307466	0.307466	1	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303875	151303875	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:151303875T>C	ENST00000370323.4	-	4	534	c.218A>G	c.(217-219)gAg>gGg	p.E73G	MAGEA10_ENST00000244096.3_Missense_Mutation_p.E73G|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	73										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAACCTCCTCTGGGGT	0.527000													30	57					0	0	1	0	0
TMEM31	203562	broad.mit.edu	37	X	102968788	102968788	+	Silent	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:102968788C>A	ENST00000319560.6	+	3	560	c.369C>A	c.(367-369)atC>atA	p.I123I	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	123						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GACTGCCCATCATACTCCACC	0.408000													57	24					4.6707e-30	5.36499e-30	1	1	0
SHC3	53358	broad.mit.edu	37	9	91657091	91657091	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:91657091C>T	ENST00000375835.4	-	10	1516	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	404	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CTGTAGATGTCCGAGGACCCT	0.557000													20	98					0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738117	130738117	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:130738117G>C	ENST00000410061.2	+	1	883	c.429G>C	c.(427-429)agG>agC	p.R143S		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	143					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGGAGAGAGGAAAGCCAAAG	0.448000													40	201					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33392179	33392179	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:33392179C>T	ENST00000305768.4	-	15	1793	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	569						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CGTTCAAGTTCGGCTTCCAGT	0.408000													119	157					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89311908	89311908	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:89311908A>G	ENST00000380265.5	+	4	724	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	HERC6_ENST00000273960.3_Missense_Mutation_p.I181V|HERC6_ENST00000264346.7_Missense_Mutation_p.I181V	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	181					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CCTGGAGGGGATCCCACTGGC	0.637000													6	26					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531821	84531821	+	RNA	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:84531821G>A	ENST00000527857.1	+	0	1843					NR_026851.1																						TTTCTGTTTAGGTGTGTGGAT	0.488000													10	32					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55435237	55435237	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:55435237C>T	ENST00000446217.1	-	13	3471	c.3069G>A	c.(3067-3069)ttG>ttA	p.L1023L	NLRP7_ENST00000448121.2_Silent_p.L967L|NLRP7_ENST00000340844.2_Silent_p.L938L|NLRP7_ENST00000328092.5_Silent_p.L967L|NLRP7_ENST00000592784.1_Silent_p.L995L|NLRP7_ENST00000590030.1_Silent_p.L938L|NLRP7_ENST00000588756.1_Silent_p.L995L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	0							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATAGGTCTTCAACCTGGAGG	0.423000													9	109					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36508625	36508625	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:36508625G>A	ENST00000360535.4	-	11	1610	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V	CLIP3_ENST00000593074.1_Silent_p.V461V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	461	CAP-Gly 2.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACACCGAAGACAGAGCCAT	0.597000													13	63					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961888	10961888	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:10961888C>A	ENST00000240691.2	-	1	879	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	263					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATCATCAACACTAATTTTCCC	0.413000													24	96					7.87624e-14	8.58309e-14	1	1	0
MGAM	8972	broad.mit.edu	37	7	141708491	141708491	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:141708491C>A	ENST00000475668.2	+	3	367	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	MGAM_ENST00000549489.2_Missense_Mutation_p.Q105K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	105	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATCCCTGACCAGCCGCCAAC	0.378000													19	41					2.94398e-08	3.08936e-08	1	1	0
MSX1	4487	broad.mit.edu	37	4	4864431	4864431	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:4864431G>A	ENST00000382723.4	+	2	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	152					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCTCAGGGCGGCTGAGCCCC	0.557000													26	79					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6854107	6854107	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:6854107C>T	ENST00000304076.2	+	25	2510	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	VAV1_ENST00000599806.1_Missense_Mutation_p.R773W|VAV1_ENST00000596764.1_Missense_Mutation_p.R796W|VAV1_ENST00000539284.1_Missense_Mutation_p.R731W|VAV1_ENST00000602142.1_Missense_Mutation_p.R828W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	828	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATCTATGGCCGGGTGAGGCA	0.627000													14	37					0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53589909	53589909	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:53589909G>A	ENST00000267082.5	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	ITGB7_ENST00000338737.4_Silent_p.D297D|ITGB7_ENST00000422257.3_Silent_p.D297D|ITGB7_ENST00000550743.2_Silent_p.D297D	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	297	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAACTTCCCGTCCCCAGCTG	0.552000													16	69					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994473	29994473	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:29994473C>T	ENST00000308893.4	+	12	2123	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	TAOK2_ENST00000279394.3_Silent_p.S360S|TAOK2_ENST00000543033.1_Silent_p.S360S|TAOK2_ENST00000416441.2_Silent_p.S187S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	360	Ser-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGTCCATCAGCGCCTCCAGCC	0.632000													42	103					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18304795	18304795	+	Splice_Site	SNP	C	C	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr22:18304795C>A	ENST00000441493.2	-	24	3801		c.e24+1			NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GACAGGCTCACCTCTCTCTTG	0.582000													62	44					2.01871e-26	2.28787e-26	1	1	0
FDX1	2230	broad.mit.edu	37	11	110333129	110333129	+	Silent	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:110333129T>C	ENST00000260270.2	+	4	730	c.492T>C	c.(490-492)acT>acC	p.T164T		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	164	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	ACAATATGACTGTTCGAGTGC	0.403000													12	20					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98900459	98900459	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:98900459C>T	ENST00000254898.5	+	2	362	c.131C>T	c.(130-132)aCg>aTg	p.T44M	MATN2_ENST00000521689.1_Missense_Mutation_p.T44M|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.T44M|MATN2_ENST00000524308.1_Missense_Mutation_p.T44M	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	44						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CACCCGCAGACGGCCCTTCTG	0.647000													6	21					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156703202	156703202	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:156703202G>A	ENST00000368216.4	+	5	1156	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	RRNAD1_ENST00000476229.1_Missense_Mutation_p.G53R|RRNAD1_ENST00000368218.4_Missense_Mutation_p.G176R	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	176						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCTTGGCCTGGGGTTGATGGT	0.592000													14	110					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107312239	107312239	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:107312239G>T	ENST00000282251.5	-	5	587	c.560C>A	c.(559-561)gCg>gAg	p.A187E	CWF19L2_ENST00000433523.1_Missense_Mutation_p.A187E	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	187							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTGTTCAAGCGCTTGGTTTTT	0.299000													6	4					0.00198382	0.00203162	1	1	0
HADHB	3032	broad.mit.edu	37	2	26486314	26486314	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:26486314G>T	ENST00000317799.5	+	4	280	c.176G>T	c.(175-177)gGt>gTt	p.G59V	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000537713.1_Missense_Mutation_p.G59V|HADHB_ENST00000405867.3_Missense_Mutation_p.G59V|HADHB_ENST00000545822.1_Missense_Mutation_p.G37V	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	59			G -> D (in TFP deficiency).		fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTGGATGGTGTTCGCACT	0.348000													35	108					6.90743e-12	7.43204e-12	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41900421	41900421	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:41900421C>T	ENST00000298919.7	+	4	615	c.227C>T	c.(226-228)aCg>aTg	p.T76M	PDZRN4_ENST00000539469.2_Missense_Mutation_p.T78M|PDZRN4_ENST00000402685.2_Missense_Mutation_p.T336M			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	336							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGCACTCAGACGGACATCACC	0.522000													24	25					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99802373	99802373	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:99802373C>T	ENST00000426455.1	+	27	3333	c.2926C>T	c.(2926-2928)Cgt>Tgt	p.R976C	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R918C|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R976C|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	976					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGCAGAACCGTGACCTCGT	0.597000													8	26					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58467325	58467325	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr20:58467325T>C	ENST00000357552.3	-	24	2309	c.2084A>G	c.(2083-2085)cAg>cGg	p.Q695R	SYCP2_ENST00000371001.2_Missense_Mutation_p.Q695R			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	695					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTTGTTGCTGATTGTGTTT	0.343000													29	154					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487598	248487598	+	Silent	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:248487598G>T	ENST00000317965.2	-	1	301	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATAGAAATGGACTTGCTGC	0.478000													54	394					9.16383e-17	1.01159e-16	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183817613	183817613	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:183817613T>A	ENST00000360982.2	-	23	3187	c.2429A>T	c.(2428-2430)cAt>cTt	p.H810L	NCKAP1_ENST00000361354.3_Missense_Mutation_p.H804L	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	804					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATATGCTATATGGCCATTGCT	0.343000													27	26					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69100236	69100236	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr4:69100236C>T	ENST00000332644.5	-	5	575	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	138	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGTTTTTCAACATCTGATGTA	0.363000													17	39					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52427914	52427914	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:52427914C>T	ENST00000261837.7	-	8	732	c.667G>A	c.(667-669)Gac>Aac	p.D223N	CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D181N|GNB5_ENST00000396335.4_Missense_Mutation_p.D111N	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	223						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTCCACGTCCCACAGGGCA	0.612000													20	70					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112607337	112607337	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:112607337G>A	ENST00000550722.1	-	70	12135	c.11740C>T	c.(11740-11742)Cgc>Tgc	p.R3914C	HECTD4_ENST00000430131.2_Missense_Mutation_p.R3638C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3888C	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CCAGTGAAGCGGATGTTGAAG	0.627000													5	20					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80044961	80044961	+	Missense_Mutation	SNP	C	C	T	rs147660865		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:80044961C>T	ENST00000306749.2	-	21	3610	c.3392G>A	c.(3391-3393)cGc>cAc	p.R1131H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1131					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CAGGGCAGCGCGCTCAGACAG	0.667000													3	15					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648291	34648291	+	Silent	SNP	T	T	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr15:34648291T>G	ENST00000537011.1	+	8	2464	c.2082T>G	c.(2080-2082)ggT>ggG	p.G694G	NUTM1_ENST00000438749.3_Silent_p.G684G|NUTM1_ENST00000333756.4_Silent_p.G666G					NUT midline carcinoma, family member 1																		AAACAGGGGGTCGTGGAGTGC	0.557000													4	22					0	0	1	0	0
TATDN1	83940	broad.mit.edu	37	8	125506161	125506161	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:125506161G>C	ENST00000276692.6	-	11	741	c.704C>G	c.(703-705)tCa>tGa	p.S235*	TATDN1_ENST00000517678.1_Nonsense_Mutation_p.S181*|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.S188*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	235						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATATATTTTGATCCAGCATG	0.363000													54	118					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41512851	41512851	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:41512851G>A	ENST00000324071.4	+	4	533	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	176					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GTCCATTACCGCCAACATCAT	0.498000													23	28					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112635	112635	+	Missense_Mutation	SNP	G	G	A	rs143220179		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:112635G>A	ENST00000262316.6	-	7	996	c.854C>T	c.(853-855)tCg>tTg	p.S285L	RHBDF1_ENST00000454039.2_Missense_Mutation_p.S285L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	285					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CGCTGCCTCCGATGGGGACTC	0.617000													65	301					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2828811	2828811	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:2828811C>G	ENST00000381154.1	-	7	1099	c.1024G>C	c.(1024-1026)Gac>Cac	p.D342H		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	342						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAACCATTGTCTTCGATGGCA	0.433000													25	36					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88584341	88584341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:88584341C>T	ENST00000266712.6	+	12	1868	c.1648C>T	c.(1648-1650)Cag>Tag	p.Q550*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	550						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAAGCAGATCAGCTGTACCG	0.423000													16	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434084	179434084	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:179434084G>T	ENST00000589042.1	-	326	76999	c.76775C>A	c.(76774-76776)gCc>gAc	p.A25592D	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A23951D|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A16652D|TTN_ENST00000342992.6_Missense_Mutation_p.A23024D|TTN_ENST00000342175.6_Missense_Mutation_p.A16719D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A16527D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23951	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTAACAAAGGCAGACTTTGT	0.418000													34	147					1.22384e-17	1.36876e-17	1	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45923556	45923556	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:45923556G>A	ENST00000395629.2	+	4	848	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.G183D			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	183	JNK-binding domain (JBD).|Minimal inhibitory domain (MID).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AATTCTCTGGGCAAAAAGCAC	0.577000													5	239					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79319818	79319818	+	Silent	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr9:79319818G>A	ENST00000428286.1	-	8	7495	c.6295C>T	c.(6295-6297)Ctg>Ttg	p.L2099L	PRUNE2_ENST00000376718.3_Silent_p.L2458L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2458					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGAATATGCAGCACAGCCAGC	0.493000											OREG0019258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127957756	127957756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr7:127957756G>A	ENST00000223073.1	-	16	1858	c.1744C>T	c.(1744-1746)Cga>Tga	p.R582*	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Nonsense_Mutation_p.R441*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	582	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGTTTTCTTCGATCTTCTAAA	0.368000													17	103					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			51	70					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20125215	20125215	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:20125215A>C	ENST00000396085.1	+	35	6959	c.6598A>C	c.(6598-6600)Aca>Cca	p.T2200P	NAV2_ENST00000527559.2_Missense_Mutation_p.T2185P|NAV2_ENST00000349880.4_Missense_Mutation_p.T2197P|NAV2_ENST00000533917.1_Missense_Mutation_p.T1261P|NAV2_ENST00000540292.1_Missense_Mutation_p.T2187P|NAV2_ENST00000360655.4_Missense_Mutation_p.T2133P|NAV2_ENST00000396087.3_Missense_Mutation_p.T2256P|NAV2_ENST00000311043.8_Missense_Mutation_p.T1261P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2256						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATAATTGGCACAATGAACCA	0.468000													22	54					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50167323	50167323	+	RNA	SNP	A	A	G			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chrX:50167323A>G	ENST00000376025.2	-	0	738							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAAGAGTTACAGTTCTTCAGC	0.378000													12	14					0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336574	104336574	+	Splice_Site	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:104336574G>A	ENST00000299767.5	+	12	1826	c.1644_splice	c.e12+1	p.E548_splice		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	548					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCAGAAAAGAGGTGAGATGAA	0.413000													15	73					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167168039	167168039	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:167168039C>T	ENST00000375387.4	-	2	568	c.228G>A	c.(226-228)gaG>gaA	p.E76E	SCN9A_ENST00000303354.6_Silent_p.E76E|SCN9A_ENST00000409672.1_Silent_p.E76E|SCN9A_ENST00000409435.1_Silent_p.E76E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	76						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGTCCAAGTCCTCCAGGGGCT	0.458000													7	59					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964910	3964910	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:3964910G>A	ENST00000545797.2	-	3	385	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48C			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGACAGGCGGCGCTTCTTG	0.652000													16	64					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476249	13476249	+	Silent	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr19:13476249C>T	ENST00000360228.5	-	5	665	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CACNA1A_ENST00000573710.2_Silent_p.A222A	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	222					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGGGATCATCGCCTTCATGA	0.473000													14	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238243452	238243452	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr2:238243452C>T	ENST00000295550.4	-	41	9498	c.9046G>A	c.(9046-9048)Ggt>Agt	p.G3016S	COL6A3_ENST00000409809.1_Missense_Mutation_p.G2810S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G2409S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2815S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2816S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2810S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3016	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATAAGGACCGGGGGGCTCA	0.542000													25	97					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96617528	96617528	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr12:96617528G>A	ENST00000228741.3	+	2	510	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	ELK3_ENST00000552142.1_Missense_Mutation_p.A62T|RP11-394J1.2_ENST00000551844.1_RNA	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	62					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGCAGAGCCCTGCGATA	0.468000													10	44					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916738	144916739	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr1:144916738_144916739insCT	ENST00000529945.1	-	9	2544_2545	c.2105_2106insAG	c.(2104-2106)actfs	p.T702fs	PDE4DIP_ENST00000369349.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369351.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Ins_p.T539fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Ins_p.T676fs|PDE4DIP_ENST00000313431.9_Frame_Shift_Ins_p.T702fs|PDE4DIP_ENST00000479408.2_Frame_Shift_Ins_p.T326fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Ins_p.T605fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	539					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTCAGGAGACTCTCCATACT	0.411			T	PDGFRB	MPD								81	490	---	---	---	---					
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	by1000genomes	TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aatggcfs	p.NG1162fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1162					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312													7	117	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720726	89720729	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr10:89720726_89720729delGGAA	ENST00000371953.3	+	8	2234_2237	c.877_880delGGAA	c.(877-882)gtfs	p.GS293fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	293	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G293fs*14(2)|p.G165_*404del(1)|p.G293G(1)|p.W274_F341del(1)|p.G293fs*4(1)|p.G293*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTAGAAAATGGAAGTCTATGTGA	0.314		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			35	52	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													4	9	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226611	88226611	+	RNA	DEL	G	G	-			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr16:88226611delG	ENST00000568587.1	-	0	91																											tggtggtgatggtggtgatgg	0.522													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578207	7578207	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:7578207delA	ENST00000420246.2	-	6	774	c.642delT	c.(640-642)cafs	p.H214fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.H214fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.H214fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H214fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.H214Q(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H214fs*7(1)|p.H214H(1)|p.H214_S215insX(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACCACACTATGTCGAAAAG	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	22	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-MT-A7BN-01A-12D-A34J-08	TCGA-MT-A7BN-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e46661-7137-4716-92b6-0bc96bac5aac	c504055d-8ff8-4dc5-870c-5345a71dba67	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	3	---	---	---	---					
