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
OR4C11	219429	broad.mit.edu	37	11	55371229	55371229	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55371229A>G	ENST00000302231.4	-	1	645	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCATGAAACTACTTGAGCAAA	0.423000													93	25					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124325908	124325908	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:124325908G>T	ENST00000409039.3	+	29	4847	c.4822G>T	c.(4822-4824)Gat>Tat	p.D1608Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1608	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATGACGGCGATAGTGGAGA	0.517000													124	212					6.58568e-60	7.8205e-60	1	1	0
INPP5D	3635	broad.mit.edu	37	2	234113018	234113018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.1062_1062insP	INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insP			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGAGGGGCCCGGCAAGCAGG	0.706000													6	67					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479685	10479685	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:10479685A>G	ENST00000538557.1	+	13	1537		c.e13-1		PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTCGTTTCCTAGGCTCAGCGG	0.587000													50	94					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328000													5	44					1.6384e-10	1.83115e-10	1	1	0
TBCD	6904	broad.mit.edu	37	17	80755631	80755631	+	Splice_Site	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:80755631A>T	ENST00000355528.4	+	8	901		c.e8-1		TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.?(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTTTTTTTTTAGGCACAAATA	0.264000													5	38					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42213889	42213889	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42213889T>C	ENST00000221992.6	+	2	469	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	119	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGACACAGGATTCTACACCCT	0.493000													5	535					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751539	26751539	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:26751539C>G	ENST00000396641.2	+	2	968	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	126						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATCGGATTCAAAGTGTGCA	0.478000													4	113					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	36					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66555677	66555677	+	Silent	SNP	T	T	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:66555677T>G	ENST00000360962.4	+	5	577	c.570T>G	c.(568-570)acT>acG	p.T190T	C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	35										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGACTTGGACTTCAGAGGAAG	0.418000													13	107					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54581027	54581027	+	Silent	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:54581027T>C	ENST00000336470.4	+	14	1487	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	GNL3L_ENST00000360845.2_Silent_p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	450					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGATGAGCTGTTGGGTGACAC	0.522000													4	102					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901793	51901793	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:51901793G>C	ENST00000268919.4	+	1	1555	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493000													6	87					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368000													4	55					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22168605	22168605	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:22168605G>A	ENST00000374695.3	-	69	9162	c.9083C>T	c.(9082-9084)cCg>cTg	p.P3028L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3028	Ig-like C2-type 16.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCTGGGCGGGTCGATGGA	0.677000													39	51					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781361	129781361	+	Missense_Mutation	SNP	G	G	A	rs142164767	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:129781361G>A	ENST00000421865.2	+	49	6933	c.6884G>A	c.(6883-6885)cGt>cAt	p.R2295H		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2295	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCTGTACGTGTGATTACA	0.383000													108	160					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33387018	33387018	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:33387018C>T	ENST00000539936.1	-	4	455	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S			O14520	AQP7_HUMAN	aquaporin 7	73					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGCCAAAACCCAAGTTGACA	0.577000													26	158					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595585	44595585	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:44595585G>A	ENST00000372299.3	+	2	700	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	214					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTTGCCCCCGCAAGATGCCC	0.572000													15	110					0	0	1	0	0
MND1	84057	broad.mit.edu	37	4	154265890	154265890	+	Translation_Start_Site	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:154265890A>T	ENST00000240488.3	+	1	90	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	1					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CGCCCGCGCCATGGTAAGGAC	0.711000													9	14					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36358981	36358981	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36358981C>T	ENST00000312412.4	-	6	709	c.710G>A	c.(709-711)cGc>cAc	p.R237H	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H																kidney(1)|lung(3)	4						AACAGGTGTGCGGGCAAACTT	0.353000													6	682					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49362451	49362451	+	Missense_Mutation	SNP	C	C	T	rs117411669	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:49362451C>T	ENST00000351842.4	-	5	517	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	170					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAATAGCTTCCGCATCTCTTT	0.488000													102	150					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													6	41					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53703027	53703027	+	Silent	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:53703027G>C	ENST00000209873.4	-	9	1014	c.849C>G	c.(847-849)ccC>ccG	p.P283P	AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	283					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCGGAACCAGGGAAGGGGGA	0.572000													13	170					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27186225	27186225	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27186225C>T	ENST00000254928.5	+	9	1212	c.1115C>T	c.(1114-1116)aCa>aTa	p.T372I		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	372	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTACAGAAGACAGCAGTGTGG	0.507000													59	86					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634405	206634405	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:206634405G>A	ENST00000414007.1	+	19	2436	c.2436G>A	c.(2434-2436)tcG>tcA	p.S812S				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAATGAACTCGGCCCTGAATG	0.537000													15	55					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801875	200801875	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:200801875T>C	ENST00000358823.2	+	6	1099	c.829T>C	c.(829-831)Tat>Cat	p.Y277H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.Y288H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	288	CH.					cytoplasm|microtubule	protein binding										TGATAGCCTGTATAATCTGCA	0.343000													15	133					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216262396	216262396	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:216262396T>A	ENST00000366943.2	-	23	5230	c.4844A>T	c.(4843-4845)cAt>cTt	p.H1615L	USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1615	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAAAGCCTGATGCCTAATAGC	0.368000										HNSCC(13;0.011)			6	219					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940373T>C	ENST00000397104.3	-	5	2064	c.2065A>G	c.(2065-2067)Aag>Gag	p.K689E	ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E					zinc finger protein 99									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000													4	107					0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775098	77775098	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:77775098C>T	ENST00000281030.2	+	1	192	c.171C>T	c.(169-171)taC>taT	p.Y57Y	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	57					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGATCTCTACACCTACTTCA	0.632000													6	196					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459933	27459933	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:27459933G>T	ENST00000337929.3	+	9	1419	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	316					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCTGGAGGTGTACAGCTG	0.627000			T	BCL6	NHL								13	89					9.31168e-06	9.67542e-06	1	1	0
CNGA3	1261	broad.mit.edu	37	2	99013230	99013230	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013230G>T	ENST00000393504.1	+	8	2014	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTGGCTGATGATGGGGTCAC	0.562000													18	235					6.94344e-10	7.69565e-10	1	1	0
ATP7A	538	broad.mit.edu	37	X	77254082	77254082	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:77254082G>A	ENST00000341514.6	+	5	1599	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	482					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCAAGACAAGGAGGAAGGAAA	0.428000													14	370					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36070536	36070536	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36070536T>C	ENST00000225893.4	-	5	1542	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	394					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGAGGAGATTGTGGCCTGG	0.522000													14	202					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104512798	104512798	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:104512798A>G	ENST00000304883.2	-	4	1071	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCCAGCAGATAGCAAAT	0.338000													5	88					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135596191	135596191	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:135596191A>C	ENST00000520727.1	-	11	3034	c.2735T>G	c.(2734-2736)cTc>cGc	p.L912R	ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGAGCCTTGAGGTTACTCTT	0.403000													5	15					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153940503	153940503	+	Splice_Site	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:153940503C>A	ENST00000369575.3	-	4	1098		c.e4+1		GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3											NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAACACTTACCTTTCCAGGT	0.507000													6	202					2.7689e-08	2.99401e-08	1	1	0
COMMD4	54939	broad.mit.edu	37	15	75630990	75630990	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75630990G>A	ENST00000267935.8	+	4	344	c.145G>A	c.(145-147)Gag>Aag	p.E49K	COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	49						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCCATAGTATGAGAAGATCCT	0.597000													3	31					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195513169	195513169	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195513169A>G	ENST00000463781.3	-	2	5741	c.5282T>C	c.(5281-5283)cTt>cCt	p.L1761P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	553					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGGGGTGGC	0.582000													3	4					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:76379755G>A	ENST00000357063.3	+	10	2471	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H			Q8WWI1	LMO7_HUMAN	LIM domain 7	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413000													5	406					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048608	148048608	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:148048608T>C	ENST00000370460.2	+	14	3681	c.3203_splice	c.e14+1	p.S1068_splice	AFF2_ENST00000370457.5_Splice_Site_p.S1033_splice|AFF2_ENST00000342251.3_Splice_Site_p.S1035_splice|AFF2_ENST00000286437.5_Splice_Site_p.S709_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1068					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGATGACTCGTATGTTGT	0.517000													7	230					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472196	179472196	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179472196C>T	ENST00000589042.1	-	277	53443	c.53219G>A	c.(53218-53220)gGc>gAc	p.G17740D	TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16099							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)			CACATATCTGCCATGGTCTTT	0.413000													52	412					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67793919	67793919	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:67793919A>G	ENST00000262345.1	+	5	1156	c.516A>G	c.(514-516)caA>caG	p.Q172Q	IL12RB2_ENST00000371000.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000541374.1_Silent_p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	172	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGCAGAAGCAATGTAAAGACA	0.388000													107	180					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168928	69168928	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:69168928T>C	ENST00000420581.2	-	2	757	c.578A>G	c.(577-579)gAc>gGc	p.D193G	LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	193						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATGCTTTGTCAGTTACCTG	0.408000													5	38					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46291958	46291958	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr20:46291958T>C	ENST00000359930.4	-	17	3079		c.e17-2		SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGGCCCCACTGCCAAGGAAG	0.527000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	68					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32352678	32352678	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:32352678T>C	ENST00000298386.2	+	9	814	c.743T>C	c.(742-744)cTt>cCt	p.L248P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTAGAAGCTCTTCCCAAGCAG	0.318000													5	238					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66931475	66931475	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:66931475A>G	ENST00000374690.3	+	4	2641	c.2117A>G	c.(2116-2118)aAt>aGt	p.N706S	AR_ENST00000396043.2_Missense_Mutation_p.N174S|AR_ENST00000396044.3_Missense_Mutation_p.N706S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	705	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCTAGCCTCAATGAACTGGGA	0.522000									Androgen Insensitivity Syndrome				8	61					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								77	91					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378000													4	85					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74722545	74722545	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:74722545T>C	ENST00000445478.2	-	1	216	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	5					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTCTTGCTCTTGTGGTTC	0.667000													36	47					0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75631004	75631004	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75631004G>A	ENST00000267935.8	+	4	358	c.159G>A	c.(157-159)aaG>aaA	p.K53K	COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	53						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGATCCTGAAGCTCACGGCTG	0.612000													3	31					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132791	45132791	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:45132791C>T	ENST00000296129.1	-	7	2001	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	623						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGCACATCCTCGTCCAGGCTG	0.592000													18	135					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350344	51350344	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:51350344T>C	ENST00000327536.5	-	3	712	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	205										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACAATGGTCATGGCGGTCTGG	0.512000													39	134					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598945	151598945	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:151598945T>C	ENST00000362032.4	+	3	719	c.614T>C	c.(613-615)tTc>tCc	p.F205S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	205						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTGATGTGTTTCTTTTATTAC	0.428000													6	228					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6174830	6174830	+	Missense_Mutation	SNP	G	G	A	rs143711562	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:6174830G>A	ENST00000264870.3	-	12	1995	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	577					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTCCAGCGTCACGTCGAA	0.512000													17	234					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592000													94	122					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													4	80					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2210033	2210033	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:2210033T>C	ENST00000511885.2	-	5	748	c.395A>G	c.(394-396)aAg>aGg	p.K132R	POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	132					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTATGCCCCTTTTTCTGTAG	0.313000								DNA polymerases (catalytic subunits)					4	263					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085997	56085997	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:56085997G>A	ENST00000312711.1	+	1	215	c.215G>A	c.(214-216)gGt>gAt	p.G72D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGGATCTTGGTTATTCAACA	0.378000													126	203					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:67058751G>A	ENST00000295568.4	+	4	1801	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	583										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443000													11	145					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685442	100685442	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:100685442T>A	ENST00000306151.4	+	3	10809	c.10745T>A	c.(10744-10746)cTc>cAc	p.L3582H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3582	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTATGCTCCTCAGCAGC	0.473000													146	166					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284144	159284144	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:159284144G>T	ENST00000332217.5	-	1	305	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATAGAAGAAGAGCTGAGTGG	0.502000													19	130					2.94398e-08	3.15766e-08	1	1	0
SMARCC1	6599	broad.mit.edu	37	3	47762184	47762184	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:47762184A>C	ENST00000254480.5	-	7	807	c.688T>G	c.(688-690)Tta>Gta	p.L230V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	230					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAATGCACTAACACTTGCTTC	0.353000													45	338					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153251912	153251912	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:153251912C>G	ENST00000281708.4	-	7	2323	c.1094G>C	c.(1093-1095)tGg>tCg	p.W365S	FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCTCGCCTCCAGTTAGTATC	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								11	277					0	0	1	0	0
CCDC58	131076	broad.mit.edu	37	3	122090540	122090540	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:122090540A>C	ENST00000291458.5	-	2	165	c.159T>G	c.(157-159)tgT>tgG	p.C53W	CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	53										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AAAGTTGTTTACAGGTTTGGC	0.373000													80	126					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125631651	125631651	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:125631651C>T	ENST00000504087.1	-	2	1053	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	6										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTCTCTTCCCAAGGATTA	0.408000													28	287					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50810826	50810826	+	Silent	SNP	G	G	T	rs151001753	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:50810826G>T	ENST00000263046.4	+	8	1297	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	TFAP2B_ENST00000393655.3_Silent_p.T368T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557000													37	265					2.51541e-25	2.90913e-25	1	1	0
OR52E6	390078	broad.mit.edu	37	11	5862807	5862807	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:5862807A>C	ENST00000329322.5	-	1	320	c.321T>G	c.(319-321)caT>caG	p.H107Q	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAAGAAATGGATGAAGA	0.463000													31	344					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433268	104433268	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:104433268G>T	ENST00000361820.3	-	3	2026	c.1426C>A	c.(1426-1428)Cca>Aca	p.P476T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	476					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCACATTGGCTTTCCCATG	0.507000													26	321					1.77063e-15	1.99571e-15	1	1	0
TCERG1	10915	broad.mit.edu	37	5	145838643	145838643	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:145838643A>C	ENST00000296702.5	+	4	673	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gctcaggcccaggcccaggcc	0.736000													22	55					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	91					0.014758	0.014758	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940995	22940995	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940995T>A	ENST00000397104.3	-	5	1442	c.1443A>T	c.(1441-1443)aaA>aaT	p.K481N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTAAAAGCTTTGCCACATT	0.358000													12	99					0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111099001	111099001	+	Silent	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:111099001A>G	ENST00000356742.5	-	3	1027	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L	HVCN1_ENST00000439744.2_Silent_p.L72L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	92					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGTTTCCTCAACATGCCCCTG	0.652000													46	99					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34053878	34053878	+	Silent	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:34053878T>A	ENST00000382499.2	-	11	1397	c.1398A>T	c.(1396-1398)tcA>tcT	p.S466S	SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	427							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACCACATTGACCGAAAAA	0.393000													9	264					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781870	128781870	+	Silent	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:128781870C>A	ENST00000529694.1	+	2	1078	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	234					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGGCCTCCATCCGGGCCAAGC	0.607000													6	164					0.00116845	0.00119541	1	1	0
ACACB	32	broad.mit.edu	37	12	109610081	109610081	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:109610081C>T	ENST00000338432.7	+	6	1156	c.1035_splice	c.e6-1	p.A346_splice	ACACB_ENST00000377848.3_Splice_Site_p.A346_splice|ACACB_ENST00000377854.5_Splice_Site_p.A346_splice			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	346	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGTTTGCAGGCGGTGTGGGCT	0.532000													188	351					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149828189	149828189	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:149828189T>C	ENST00000370396.2	+	12	1367	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	438	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTATTTTTCTCCAGTTT	0.313000													9	127					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638211	145638211	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:145638211C>T	ENST00000276833.5	-	10	1975	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	583						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCGCTCTCCTCGCTGACTCCA	0.677000													19	32					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15254949	15254949	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:15254949C>G	ENST00000378116.4	-	8	2644	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	880						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTCTCCTCCCGTTTCTGC	0.507000													19	244					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642000													5	248					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351247	131351247	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:131351247G>T	ENST00000342983.2	-	2	796	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	17					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAAGGGCAGATTTGCCAAC	0.507000													7	523					5.4927e-09	5.98795e-09	1	1	0
C3	718	broad.mit.edu	37	19	6702526	6702526	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:6702526G>T	ENST00000245907.6	-	18	2402	c.2310C>A	c.(2308-2310)agC>agA	p.S770R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	770					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACAGCCAGCTCTCTGGGA	0.517000													79	93					1.55521e-42	1.83047e-42	1	1	0
METAP1D	254042	broad.mit.edu	37	2	172926348	172926348	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:172926348C>T	ENST00000315796.4	+	2	550	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	55					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TATAGTTTTGCCGGCTGCAGT	0.398000													7	702					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168650	50168650	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:50168650T>C	ENST00000284509.6	-	25	2993	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	951					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTACGCTTGTTAAAAAGCAG	0.443000													4	92					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488000													6	366					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241886728	241886728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:241886728C>T	ENST00000366552.2	+	9	1361	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTCAGCCTTTCCTCTGCAAAG	0.383000													17	39					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477389	110477389	+	Silent	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2778D(2)		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)			AGTTTGTTGACGTCCAGTATT	0.433000										HNSCC(38;0.096)			12	130					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104086	53104086	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:53104086G>T	ENST00000408890.4	+	1	738	c.722G>T	c.(721-723)gGc>gTc	p.G241V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGAGCCTCGGCCCCTGGAGC	0.647000													5	100					4.096e-09	4.50221e-09	1	1	0
HSPA14	51182	broad.mit.edu	37	10	14891775	14891775	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:14891775G>A	ENST00000378372.3	+	6	671	c.432G>A	c.(430-432)ccG>ccA	p.P144P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTACTGTCCCGTTTGATTTTG	0.323000													52	84					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105177553	105177553	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:105177553C>T	ENST00000262903.4	-	24	2990	c.2714G>A	c.(2713-2715)gGt>gAt	p.G905D	HACE1_ENST00000369125.2_Missense_Mutation_p.G690D|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	905	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATTGTGTAACCATAGCTGCC	0.383000													21	180					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27410369	27410369	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:27410369G>C	ENST00000326799.3	-	13	1563	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	472					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTCATTGGGTTTAAAACT	0.318000													19	247					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21209105	21209105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:21209105C>A	ENST00000574002.1	-	19	2559	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	693					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAACCTCCTCCCCTGTTTCA	0.468000													65	123					1.59245e-42	1.85786e-42	1	1	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			31	9					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48396115	48396115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:48396115G>T	ENST00000380006.2	-	1	1678	c.225C>A	c.(223-225)tgC>tgA	p.C75*	SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	75					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AAGGGCCCCGGCAAGTTGGAC	0.468000													49	77					6.08268e-21	6.9145e-21	1	1	0
APP	351	broad.mit.edu	37	21	27462309	27462309	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:27462309C>T	ENST00000358918.3	-	3	504	c.305G>A	c.(304-306)cGc>cAc	p.R102H	APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	102	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACTGCTTGCGGCCCCGCTT	0.582000													4	155					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013232	99013232	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013232T>A	ENST00000393504.1	+	8	2016	c.1599T>A	c.(1597-1599)gaT>gaA	p.D533E	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCTGATGATGGGGTCACCC	0.562000													17	237					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359013	10359013	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:10359013T>C	ENST00000255381.2	-	19	2202	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTTACACCTCAGCTGATGC	0.488000													4	135					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	550110	550110	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:550110C>A	ENST00000270115.7	+	8	962	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	154										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACCTGAGCCCACTGTGCC	0.677000													13	116					3.27435e-08	3.48391e-08	1	1	0
ATRX	546	broad.mit.edu	37	X	76812938	76812938	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:76812938G>A	ENST00000373344.5	-	30	6897	c.6683C>T	c.(6682-6684)aCt>aTt	p.T2228I	ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2228					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGCATGGGAGTATCCCTCTT	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						144	207					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87145840	87145840	+	Silent	SNP	C	C	T	rs138566631	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:87145840C>T	ENST00000265724.3	-	25	3486	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1023					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.T1023T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTAGGCCTTCCGTGCTGTAGC	0.388000													4	181					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129480618	129480618	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423000													30	286					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789589	6789589	+	Silent	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493000													7	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072192	9072192	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:9072192G>T	ENST00000397910.4	-	3	15457	c.15254C>A	c.(15253-15255)aCa>aAa	p.T5085K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5087	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAAGCGTGTACGTAATAT	0.433000													4	220					2.56e-06	2.68094e-06	1	1	0
TRAF4	9618	broad.mit.edu	37	17	27074931	27074931	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27074931G>A	ENST00000262395.5	+	3	395	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	89					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGAGGAGGGCTGCCGCTGG	0.612000													28	25					0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36164874	36164874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:36164874C>T	ENST00000344691.4	-	6	2497	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	307	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGGAACTGGCGCGGGTCGCT	0.687000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								14	14					0	0	1	0	0
NAT2	10	broad.mit.edu	37	8	18257674	18257674	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:18257674C>T	ENST00000286479.3	+	2	268	c.161C>T	c.(160-162)gCt>gTt	p.A54V	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	54					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GGCTTAGAGGCTATTTTTGAT	0.473000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				87	186					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511945	195511945	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195511945G>A	ENST00000463781.3	-	2	6965	c.6506C>T	c.(6505-6507)gCa>gTa	p.A2169V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2169V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	948					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A2169V(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.572000													3	4					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694101	109694101	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:109694101G>C	ENST00000465301.2	+	3	502	c.256G>C	c.(256-258)Gca>Cca	p.A86P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	86										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAACTCTGGAGCATTGTCCCC	0.542000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	483					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419188	55419188	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55419188C>T	ENST00000312422.2	+	1	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGATGGTGGCTGTATTTTAC	0.423000													41	165					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360166	21360166	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr14:21360166A>T	ENST00000304639.3	+	2	379	c.321A>T	c.(319-321)ttA>ttT	p.L107F		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	107					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGGTGCCTTTACTCCACTGTG	0.428000													6	152					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111097327	111097327	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111097327G>A	ENST00000262839.2	-	4	1826	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	303					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGGCTGAGCAACAAACTG	0.488000													3	37					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056150	102056150	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:102056150A>G	ENST00000549145.1	+	20	2111	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	658	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTTTATTGAGAGGAAGAAGAA	0.363000													12	77					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716640	74716640	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:74716640C>G	ENST00000294064.4	+	3	1416	c.489C>G	c.(487-489)taC>taG	p.Y163*	NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130*	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	163										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTTCATCTACAGTCAGGATG	0.547000													63	108					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39909586	39909586	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:39909586G>C	ENST00000425673.1	+	11	1531	c.1206G>C	c.(1204-1206)tgG>tgC	p.W402C	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	402	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAGGCTGTGGATTCACTGTC	0.617000													32	224					0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681398	52681398	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:52681398C>G	ENST00000298181.5	-	4	343		c.e4-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GCCTTGAAGCCTAGAAAGAAG	0.483000													21	143					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46846534	46846534	+	Silent	SNP	G	G	T			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:46846534G>T	ENST00000393382.3	-	15	2634	c.2493C>A	c.(2491-2493)ctC>ctA	p.L831L	TTLL6_ENST00000433608.2_Silent_p.L524L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	783						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACTCTGCAAGAGGAGGGAGG	0.572000													8	95					0.00448238	0.00455081	1	1	0
TENM1	10178	broad.mit.edu	37	X	123615606	123615606	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:123615606C>G	ENST00000422452.2	-	22	3988	c.3925G>C	c.(3925-3927)Gaa>Caa	p.E1309Q	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.E1302Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGTGAAGCTTCCGATGCTCTC	0.378000													55	61					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097395	85097395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:85097395delT	ENST00000335459.5	-	2	828	c.623delA	c.(622-624)agfs	p.K208fs	TRABD2A_ENST00000409520.2_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CTCTTCCACCTTTTCCACTGC	0.493													7	366	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179616389	179616392	+	Frame_Shift_Del	DEL	ACCT	ACCT	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179616389_179616392delACCT	ENST00000360870.5	-	46	10957_10960	c.10735_10738delAGGT	c.(10735-10740)tafs	p.RL3579fs	TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3574	Ig-like 21.						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)			ATTGCTAGTAACCTATAACTTCCA	0.377													11	312	---	---	---	---					
AC073321.4	0	broad.mit.edu	37	2	217475031	217475032	+	RNA	INS	-	-	A	rs71401156		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:217475031_217475032insA	ENST00000441803.1	+	0	195																											AATTTTATTTCAAAAAAAAAAA	0.376													7	18	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	105918246	105918247	+	RNA	INS	-	-	TT	rs145057012		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:105918246_105918247insTT	ENST00000506386.1	+	0	71																											tttttttttccttttttttttt	0.317													4	3	---	---	---	---					
SLC9A3	6550	broad.mit.edu	37	5	524298	524298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:524298delA	ENST00000264938.3	-	1	149	c.140delT	c.(139-141)tcfs	p.F47fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	47						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCACTCGAAGGTGACCAC	0.731													2	4	---	---	---	---					
AC009518.5	0	broad.mit.edu	37	7	131628169	131628169	+	RNA	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:131628169delT	ENST00000415393.1	+	0	1006																											TCCCTAGTCCTTCCAGGGCAT	0.572													2	4	---	---	---	---					
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:29450110delA	ENST00000182377.4	+	4	790	c.522delA	c.(520-522)ccfs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388													10	265	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180																											TTAGTCTGTTGTAGTGGTGAGCT	0.507													3	5	---	---	---	---					
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:16908642delT	ENST00000524140.2	+	16	3822	c.3404delT	c.(3403-3405)gtfs	p.V1135fs	NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													7	636	---	---	---	---					
