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
HGD	3081	broad.mit.edu	37	3	120360529	120360529	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:120360529C>T	ENST00000283871.5	-	11	1245	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	262					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)		CAACATTGAACGGGGAGACAT	0.418000													6	109					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:56390461G>A	ENST00000423270.1	-	8	924	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438000													17	27					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505832	60505832	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:60505832A>C	ENST00000371201.3	-	5	611	c.504T>G	c.(502-504)agT>agG	p.S168R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	168							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGTTGTCCCACTTGGGCTCT	0.443000													32	69					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716343	196716343	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:196716343T>A	ENST00000367429.4	+	22	3836	c.3596T>A	c.(3595-3597)tTt>tAt	p.F1199Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1199	Sushi 20.		F -> S (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGTTGAATTTGTGTGTAAA	0.398000													5	157					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944829	55944829	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:55944829A>G	ENST00000312298.1	+	1	736	c.736A>G	c.(736-738)Act>Gct	p.T246A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCTCACCTGACTGCTGTGAC	0.443000													34	74					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983876	2983876	+	Silent	SNP	C	C	T	rs113957419		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:2983876C>T	ENST00000396946.4	-	5	1057	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	218					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCATGACCGCCATGTTCT	0.572000			Mis		DLBCL								19	42					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173552695	173552695	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:173552695A>G	ENST00000367714.3	-	6	1012	c.590T>C	c.(589-591)aTt>aCt	p.I197T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	197					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCCAAAAAAAATTGATGCGAT	0.289000													51	70					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101595961	101595961	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:101595961C>T	ENST00000310954.6	-	6	1370	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	362					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAAATTTCACATCTGCATTA	0.294000													8	18					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149075788	149075788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:149075788T>C	ENST00000355292.3	-	5	2653	c.2291A>G	c.(2290-2292)gAt>gGt	p.D764G	NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760G			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCGGCTGTATCTGGTTTTGA	0.488000													4	130					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532000													4	210					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138444521	138444521	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:138444521G>A	ENST00000310018.2	-	8	897	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ATP6V0A4_ENST00000393054.1_Silent_p.D205D|ATP6V0A4_ENST00000353492.4_Silent_p.D205D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	205					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGGGGCGTCCATCTCAC	0.532000													4	65					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123847056	123847056	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:123847056C>A	ENST00000369005.1	+	4	5381	c.5041C>A	c.(5041-5043)Cct>Act	p.P1681T	TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T|TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1681						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGCACCCCTGCACCACC	0.622000													7	40					0.0381472	0.0388284	1	1	0
SEPHS1	22929	broad.mit.edu	37	10	13386920	13386920	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:13386920T>C	ENST00000327347.5	-	2	406	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	11					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AATTCGTAACTTTCCGGGTTA	0.542000													7	158					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378000													5	173					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000													3	5					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	72					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													6	41					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919758	66919758	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:66919758C>T	ENST00000311765.2	+	2	1905	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	524					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAATCGGTGCATATTACAAG	0.438000													19	80					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16466534	16466534	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:16466534T>C	ENST00000395824.1	-	5	1258	c.641A>G	c.(640-642)tAc>tGc	p.Y214C	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	207	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTTGGTCTGTACACTGTAAG	0.393000													5	100					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202136285	202136285	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:202136285A>G	ENST00000358485.4	+	3	725	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000432109.2_Missense_Mutation_p.R118G|CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	118	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCAGAATTGAGGTCTTTTAA	0.388000										HNSCC(4;0.00038)			11	60					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517588	39517588	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000600828.1_Silent_p.D209D|FBXO27_ENST00000509137.2_Silent_p.D210D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562000													6	139					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185104	53185104	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:53185104G>A	ENST00000417996.2	-	7	1495	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCATCCTTCGCCTGCTGTAG	0.612000													5	102					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234906	26234906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:26234906T>A	ENST00000244534.5	-	1	310	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	86	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCAAGCTCTTGAGGCCAAGC	0.542000													6	164					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237368	56237368	+	Silent	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:56237368G>C	ENST00000312240.2	-	1	646	c.606C>G	c.(604-606)ggC>ggG	p.G202G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAAGTTAATGCCGGCAAGTA	0.418000													32	103					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101960850	101960850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:101960850G>A	ENST00000536178.1	+	9	1610	c.1565G>A	c.(1564-1566)tGg>tAg	p.W522*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	483					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CAGCATCTGTGGTTCCAGTCT	0.647000													11	144					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40570809	40570809	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr21:40570809T>C	ENST00000342449.3	-	40	5611	c.5533A>G	c.(5533-5535)Att>Gtt	p.I1845V	BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1845V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCCTGAAATTGGGTTCATT	0.358000													5	143					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90782109	90782109	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:90782109A>G	ENST00000220751.4	+	4	907	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	198	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCTGAAAACTATGAACCTGGA	0.408000													6	226					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	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								49	63					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857200	90857200	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:90857200T>C	ENST00000394980.1	+	7	2688	c.2369T>C	c.(2368-2370)gTc>gCc	p.V790A	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A			Q13201	MMRN1_HUMAN	multimerin 1	790					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378000													3	70					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138846	101138846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:101138846T>C	ENST00000372782.3	-	7	1600	c.1553A>G	c.(1552-1554)tAc>tGc	p.Y518C	ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.Y347C	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	347						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGGTGCTTGTAAACTTCAGA	0.413000													4	48					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	41					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81558108	81558108	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:81558108C>G	ENST00000394660.2	+	4	890	c.530C>G	c.(529-531)tCt>tGt	p.S177C	IL16_ENST00000302987.4_Missense_Mutation_p.S177C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	177					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCCCTCTCTCAACAATTG	0.512000											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	44					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	108985490	108985490	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:108985490A>G	ENST00000379951.2	-	9	2270		c.e9+1		LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000265165.1_Splice_Site	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAG	0.433000													18	64					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941252	111941252	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:111941252G>T	ENST00000530641.1	-	5	1046	c.721C>A	c.(721-723)Cat>Aat	p.H241N	PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H241N|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	241										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTGATCATGCACAATTTTT	0.398000													5	132					0.184627	0.184627	1	1	0
VIP	7432	broad.mit.edu	37	6	153076508	153076508	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:153076508G>C	ENST00000367244.3	+	4	507	c.335_splice	c.e4+1	p.S112_splice	VIP_ENST00000367243.3_Splice_Site_p.S112_splice	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	112					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AAACGTGTTAGGTAAAGAGaa	0.313000													13	38					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797733	71797733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:71797733G>A	ENST00000258104.3	+	29	3313	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1012						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCAGGCTGGGAGTATAGCA	0.617000													10	11					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124364299	124364299	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:124364299G>A	ENST00000409039.3	+	49	8256	c.8231G>A	c.(8230-8232)cGc>cAc	p.R2744H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2744					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2744H(1)|p.R1336H(1)		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)		GGAGAACCACGCATTTATGAA	0.532000													5	250					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632000		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)			84	14					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454040	37454040	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:37454040A>G	ENST00000374660.1	+	18	1952	c.1853A>G	c.(1852-1854)gAa>gGa	p.E618G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCCATCAGAATCCAAACAA	0.284000													19	115					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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.W263*(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)	TGTAGCAATACCATTGGTTGT	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						16	173					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835412	80835412	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:80835412A>G	ENST00000466387.1	+	21	3123	c.2399A>G	c.(2398-2400)cAg>cGg	p.Q800R	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q800R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	800					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAAGTGCAGAATCTGGGA	0.468000													7	69					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	38					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													4	49					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911450	59911450	+	Missense_Mutation	SNP	G	G	A	rs142393489		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:59911450G>A	ENST00000396065.1	+	3	1461	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCAGCGTGCACGGTGG	0.507000													11	139					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540532	55540532	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:55540532A>G	ENST00000220676.1	+	4	4238	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGTTAGAAAGAGGTGATGA	0.323000													4	77					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886516	23886516	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr14:23886516C>T	ENST00000355349.3	-	32	4527	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					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)		TCTGCTTCCACTCGGCCAGGA	0.622000													7	81					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516294	1516294	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:1516294C>G	ENST00000389470.4	-	38	5660		c.e38-1		INTS1_ENST00000404767.3_Splice_Site			Q8N201	INT1_HUMAN	integrator complex subunit 1						snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGGTCGAACCTGTGGGGAGG	0.627000													17	57					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767623	154767623	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:154767623T>C	ENST00000404141.1	-	6	1011	c.857A>G	c.(856-858)gAg>gGg	p.E286G	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	286					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAACCCAGGCTCCTTTCCCTG	0.522000													3	44					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186273287	186273287	+	Missense_Mutation	SNP	T	T	C	rs150567824		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:186273287T>C	ENST00000445192.2	+	5	412	c.367T>C	c.(367-369)Tca>Cca	p.S123P	PRG4_ENST00000367486.3_Missense_Mutation_p.S123P|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367483.4_Missense_Mutation_p.S82P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	123					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCTCCACCTTCAGGAGCATC	0.408000													25	70					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64176405	64176405	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr18:64176405A>G	ENST00000262150.2	-	11	1947	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	552	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATTGTCGGCAATTAAGATGGA	0.428000													27	84					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123980089	123980089	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:123980089T>A	ENST00000306315.5	-	5	4406	c.3971A>T	c.(3970-3972)gAc>gTc	p.D1324V	ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1324						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCCCGAGAGTCCTTCCAGTT	0.478000													6	142					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	6	---	---	---	---					
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337													3	3	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938678	76938679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76938678_76938679delTT	ENST00000373344.5	-	9	2283_2284	c.2069_2070delAA	c.(2068-2070)afs	p.K690fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	690					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)	GAACTGATAGTTTTTGTTTCTC	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						128	99	---	---	---	---					
DACH2	117154	broad.mit.edu	37	X	85404113	85404114	+	Splice_Site	DEL	GT	GT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:85404113_85404114delGT	ENST00000373131.1	+	1	651		c.e1+1		DACH2_ENST00000373125.4_Splice_Site	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAATGCCAGGTGAGACACTCG	0.535													4	5	---	---	---	---