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
OR8D2	283160	broad.mit.edu	37	11	124190082	124190082	+	Silent	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:124190082T>G	ENST00000357438.2	-	1	102	c.12A>C	c.(10-12)tcA>tcC	p.S4S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGAATGGTTTGAAGTAGCCA	0.408000													9	62					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:145649475C>T	ENST00000377348.2	-	9	586	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692000													4	196					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596432	97596432	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:97596432G>C	ENST00000182096.4	+	1	614	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCAGTGTCAGAACGTTTAAA	0.458000													3	48					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4037671	4037671	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:4037671T>G	ENST00000337659.6	+	3	1379	c.1279T>G	c.(1279-1281)Tca>Gca	p.S427A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	427	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGTGAAAGATCAAAAGATGC	0.413000													22	26					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168812874	168812874	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:168812874C>T	ENST00000464456.1	-	11	3618	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000392736.3_Silent_p.G815G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000494292.1_Silent_p.G994G|MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGGACATGTTCCCATTCTCAT	0.318000													5	10					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66516636	66516636	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:66516636T>C	ENST00000276569.3	-	7	1086	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	281					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGTCACCAATAAAATGATCT	0.468000													4	37					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76794286	76794286	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:76794286G>C	ENST00000286719.7	-	12	1856	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	500	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCACCTTGCGGTTGTGACAGA	0.488000													15	32					0	0	1	0	0
YWHAB	7529	broad.mit.edu	37	20	43534679	43534679	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:43534679A>G	ENST00000372839.3	+	6	900	c.626A>G	c.(625-627)aAt>aGt	p.N209S	YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	209					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GATACGCTGAATGAAGAGTCT	0.388000													35	71					0	0	1	0	0
IGHV3-49	0	broad.mit.edu	37	14	107013199	107013199	+	RNA	SNP	C	C	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:107013199C>A	ENST00000390625.2	-	0	175																											ACCGCCCTGGCTGTACCAAGC	0.552000													3	41					0.115264	0.117481	1	1	0
TICRR	90381	broad.mit.edu	37	15	90167942	90167942	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr15:90167942C>T	ENST00000268138.7	+	20	4506	c.4401C>T	c.(4399-4401)ctC>ctT	p.L1467L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1466L					TOPBP1-interacting checkpoint and replication regulator																		TCACTCTCCTCAGTGAAGCCG	0.522000													19	24					0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110128908	110128908	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:110128908A>G	ENST00000369851.4	+	6	771	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	221					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AGTGACAGCAATTATCTTCTG	0.458000													12	117					0	0	1	0	0
AC005562.1	0	broad.mit.edu	37	17	28960234	28960234	+	RNA	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:28960234T>C	ENST00000417404.1	+	0	1095				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							CAGAAACACATGTGCAAGGGA	0.493000													20	40					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437735	201437735	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:201437735A>G	ENST00000357799.4	+	7	2764	c.2666A>G	c.(2665-2667)tAt>tGt	p.Y889C		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	889					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTGAAAAAGTATGTTACTGAT	0.303000													45	41					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894938	23894938	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:23894938A>G	ENST00000355349.3	-	20	2414	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	751	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTGATCAATGTCCAGGGA	0.493000													20	32					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44982041	44982041	+	Silent	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:44982041T>C	ENST00000221327.4	-	5	938	c.657A>G	c.(655-657)aaA>aaG	p.K219K	ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Silent_p.K192K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGATACATGTTTATGAAAAT	0.353000													28	35					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28554109	28554109	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:28554109T>C	ENST00000452236.2	-	1	1003	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	129	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTCTCCAAATCTTCCAGCAA	0.522000													6	180					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112048276	112048276	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:112048276C>G	ENST00000371959.3	-	5	1674	c.1675G>C	c.(1675-1677)Gcc>Ccc	p.A559P	AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000524145.1_Missense_Mutation_p.A559P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	559					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGGGCAGTGGCCAGCTCCGCT	0.522000													8	147					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	53965658	53965658	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:53965658A>G	ENST00000338154.6	-	22	3512	c.3008T>C	c.(3007-3009)cTg>cCg	p.L1003P	PHF8_ENST00000338946.6_Missense_Mutation_p.L902P|PHF8_ENST00000357988.5_Missense_Mutation_p.L1039P	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1039					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCTGTGGCCAGGCCCTTTTT	0.547000													7	30					0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	99007648	99007648	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:99007648G>A	ENST00000375263.3	-	8	632	c.585C>T	c.(583-585)taC>taT	p.Y195Y	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	195					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGTACATGGAGTAGAGAGGCC	0.463000													27	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7578535T>C	ENST00000420246.2	-	5	527	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)		GCAAAACATCTTGTTGAGGGC	0.562000		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	5					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								22	24					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287481	155287481	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:155287481G>A	ENST00000357232.3	-	5	574	c.575C>T	c.(574-576)cCa>cTa	p.P192L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	192	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCGGTGCCTGGCTGGGTCTC	0.493000													8	29					0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645537	60645537	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:60645537G>A	ENST00000400316.4	+	17	4272	c.2491G>A	c.(2491-2493)Ggc>Agc	p.G831S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1343					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GCGCATCCTGGGCTACACCTT	0.572000													7	11					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50900706	50900706	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr22:50900706T>C	ENST00000380817.2	-	19	2507	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	SBF1_ENST00000390679.3_Missense_Mutation_p.K775R|SBF1_ENST00000348911.6_Missense_Mutation_p.K776R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	775					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCGGCTCTTGCTGCTGTC	0.657000													26	27					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352005	120352005	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:120352005C>T	ENST00000283871.5	-	13	1636	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	393					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGGTGCCATCGGCAATCCTC	0.547000													8	27					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6634761	6634761	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:6634761G>A	ENST00000315579.5	+	18	3026	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	743					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGTGAGTTTGTGCAGAAGGA	0.493000													4	35					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144027	11144027	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11144027G>A	ENST00000358026.2	+	26	3892	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1203	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGTGCTCCGCCTCTGCACC	0.627000			"""F, N, Mis"""		NSCLC								8	99					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117131325	117131325	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:117131325T>C	ENST00000369486.3	-	8	3196	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E|IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	811						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGGCTGTTTCACAGTGACT	0.632000													14	15					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766658	57766658	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:57766658C>T	ENST00000371030.2	+	1	584	c.584C>T	c.(583-585)aCg>aTg	p.T195M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGACGCAGACGCACCTCAAC	0.672000													36	48					0	0	1	0	0
MET	0	broad.mit.edu	37	7	116435788	116435788	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:116435788C>G	ENST00000397752.3	+	20	4078	c.3878C>G	c.(3877-3879)aCt>aGt	p.T1293S	MET_ENST00000539704.1_Missense_Mutation_p.T163S|MET_ENST00000318493.6_Missense_Mutation_p.T1311S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGATATAACTGTTTACTTG	0.453000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	227					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123693	11123693	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11123693G>A	ENST00000358026.2	+	16	2627	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SMARCA4_ENST00000429416.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577000			"""F, N, Mis"""		NSCLC								5	48					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398000													4	193					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331619	85331619	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:85331619T>G	ENST00000440886.1	-	1	223	c.185A>C	c.(184-186)cAt>cCt	p.H62P	LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGGGGAAATGAAATTTTCT	0.393000													39	55					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115137092	115137092	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:115137092A>T	ENST00000393274.1	-	18	3057		c.e18+1		DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGTCTCATACCTTGTGAAA	0.383000													5	57					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560214	44560214	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:44560214G>A	ENST00000332567.4	-	1	1774	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	474					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCGGATCGTAGTTGGCCT	0.607000													5	92					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848182	73848182	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:73848182G>A	ENST00000523207.1	+	3	1180	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	198					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V198M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTGGCCATCGTGTCTATCCT	0.463000													106	141					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491781	107491781	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:107491781C>G	ENST00000415149.2	+	11	1540	c.1213C>G	c.(1213-1215)Cat>Gat	p.H405D	BBX_ENST00000325805.8_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAATGTAGTCATTTTCCTGA	0.328000													7	65					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486345	65486345	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:65486345A>G	ENST00000519389.1	+	21	3649	c.3470A>G	c.(3469-3471)aAg>aGg	p.K1157R	HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103R			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCCCCATAAAGAATGTTGAG	0.488000													7	30					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713097	138713097	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:138713097G>A	ENST00000389532.4	-	11	3474	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTGCTGGCAGGGAAGGGTCT	0.637000													4	54					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418743	105418743	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:105418743C>T	ENST00000333244.5	-	7	3164	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1015						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGATGGACTTCCCTGGGG	0.592000													5	206					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946006	66946006	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr16:66946006A>C	ENST00000299752.4	-	13	1779	c.1586T>G	c.(1585-1587)gTg>gGg	p.V529G	CDH16_ENST00000568632.1_Missense_Mutation_p.V432G|CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642000													18	27					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130188154	130188154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:130188154C>T	ENST00000265379.6	+	38	7800	c.7306C>T	c.(7306-7308)Caa>Taa	p.Q2436*	COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2436*			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2436	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCCAAGTGTCAAGGCTACTC	0.408000													4	29					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846116	47846116	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:47846116G>A	ENST00000339488.4	-	3	2497	c.2464C>T	c.(2464-2466)Cgt>Tgt	p.R822C		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	822						integral to membrane	hedgehog receptor activity										CGCTTGGCACGTTTCTTTTTC	0.448000													5	110					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524503	52524503	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr13:52524503C>T	ENST00000242839.4	-	10	2636	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	827					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GATATCGCCCCGCTGCACCAG	0.572000									Wilson disease				3	30					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47181709	47181709	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:47181709A>G	ENST00000433867.1	-	17	2759	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	PRKD2_ENST00000291281.4_Missense_Mutation_p.I761T|PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	761	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCGTTCTGGATCTGGTCATT	0.622000													13	22					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169573	51169573	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:51169573C>T	ENST00000293441.1	-	22	5662	c.5644G>A	c.(5644-5646)Ggg>Agg	p.G1882R	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1882					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGCCCCCAAACTGCTGA	0.672000													4	22					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57219575	57219575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:57219575delT	ENST00000343433.6	-	8	1244	c.1164delA	c.(1162-1164)aafs	p.K388fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	388										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CACATGGTTGTTTTTCCTTCA	0.333													11	44	---	---	---	---					
GNAI2	2771	broad.mit.edu	37	3	50294410	50294412	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:50294410_50294412delCAA	ENST00000313601.6	+	7	1149_1151	c.765_767delCAA	c.(763-768)tgc>tg	p.CN255del	GNAI2_ENST00000440628.1_In_Frame_Del_p.CN203del|GNAI2_ENST00000451956.1_In_Frame_Del_p.CN218del|GNAI2_ENST00000422163.1_In_Frame_Del_p.CN239del|GNAI2_ENST00000536647.1_In_Frame_Del_p.CN174del|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_In_Frame_Del_p.CN239del	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	255					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ATAGCATCTGCAACAACAAGTGG	0.532											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	79	---	---	---	---					
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttg>t	p.LL23del	CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	23					innate immune response	endoplasmic reticulum		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695													2	4	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48314805	48314807	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:48314805_48314807delTCT	ENST00000435803.1	+	17	5566_5568	c.5542_5544delTCT	c.(5542-5544)del	p.S1850del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1850					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGCTCATGTCTTCTTCCTTTT	0.443													14	19	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139393369	139393370	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139393369_139393370delTT	ENST00000277541.6	-	33	6236_6237	c.6161_6162delAA	c.(6160-6162)afs	p.K2054fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2054					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGCATATCTTTGTTAGCCCC	0.614			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			26	162	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)tac>t	p.FY357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	29	---	---	---	---					
KBTBD4	55709	broad.mit.edu	37	11	47594890	47594890	+	Frame_Shift_Del	DEL	T	T	-	rs146935371		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:47594890delT	ENST00000533290.1	-	3	1938	c.1224delA	c.(1222-1224)ctfs	p.L408fs	KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L383fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	383										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTCCCCCCCTAGTAAGTAGA	0.507													10	105	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045601	7045603	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:7045601_7045603delTCC	ENST00000356654.4	+	5	1408_1410	c.1171_1173delTCC	c.(1171-1173)del	p.S395del	ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ttccagttcttcctcctcttcct	0.586													10	65	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	RNA	INS	-	-	AACAAC	rs112328257	by1000genomes	TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:13174141_13174142insAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.550													3	4	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgt>cg	p.RR591del	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													7	275	---	---	---	---					
SYDE1	85360	broad.mit.edu	37	19	15224628	15224630	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:15224628_15224630delGAG	ENST00000600252.1	+	5	2675_2677	c.1033_1035delGAG	c.(1033-1035)del	p.E346del	SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del|SYDE1_ENST00000342784.2_In_Frame_Del_p.E689del			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	689					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACGAGGACGAGGAGGTCGGCG	0.640													8	184	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	1	---	---	---	---