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
TOX2	84969	broad.mit.edu	37	20	42602036	42602036	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:42602036G>T	ENST00000358131.5	+	2	364	c.156G>T	c.(154-156)atG>atT	p.M52I	TOX2_ENST00000423191.1_Start_Codon_SNP_p.M1I|TOX2_ENST00000341197.3_Missense_Mutation_p.M43I|TOX2_ENST00000372999.1_Start_Codon_SNP_p.M1I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACGTGGGGATGAGTGACGGAA	0.542000													9	36					0.0692343	0.0702995	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2033400	2033400	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:2033400G>A	ENST00000262113.4	+	14	1663	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	508					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCAGGTGACGCCCAGGTTCC	0.627000													6	32					0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5662510	5662510	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:5662510T>C	ENST00000425013.2	-	17	2806	c.2582A>G	c.(2581-2583)cAg>cGg	p.Q861R	RNF216_ENST00000389902.3_Missense_Mutation_p.Q918R	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	861	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATGCCGCGGCTGGGGGCCAAA	0.632000													29	175					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107277	123107277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:123107277C>T	ENST00000264501.4	+	7	818	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.Q149*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.Q149*			Q2LD37	K1109_HUMAN	KIAA1109	149					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGACGCCTTCAAGAGTTGTT	0.378000													18	37					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1245978	1245978	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:1245978C>A	ENST00000324642.3	+	12	1795	c.1672C>A	c.(1672-1674)Cgt>Agt	p.R558S		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	558					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCCCCTCGCGTCAGGAGAA	0.697000													12	20					5.50884e-06	6.14507e-06	1	1	0
PLBD1	79887	broad.mit.edu	37	12	14706303	14706303	+	Silent	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:14706303T>C	ENST00000240617.5	-	2	811	c.159A>G	c.(157-159)acA>acG	p.T53T		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	53					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGACTTGTACTGTCTTTTCAG	0.423000													12	74					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27272664	27272664	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:27272664T>G	ENST00000321265.5	+	9	1111	c.988T>G	c.(988-990)Ttc>Gtc	p.F330V	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	330					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CAAGGCTAAATTCAACTAGCC	0.493000													27	47					0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822357	1822357	+	Silent	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:1822357A>T	ENST00000177742.3	-	3	573	c.543T>A	c.(541-543)atT>atA	p.I181I	MRPS34_ENST00000397375.2_Silent_p.I174I			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	174						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GTTCTGCGATAATCATGGCCC	0.607000													27	30					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944152	39944152	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:39944152A>T	ENST00000281961.2	+	4	711	c.655A>T	c.(655-657)Ata>Tta	p.I219L	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		ATTTATAGGGATATTTTGCAC	0.403000													30	136					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16193058	16193058	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:16193058C>T	ENST00000405303.2	-	4	621	c.538G>A	c.(538-540)Gac>Aac	p.D180N	TAPT1_ENST00000304584.8_Missense_Mutation_p.D6N|TAPT1_ENST00000399920.3_Missense_Mutation_p.D69N|TAPT1_ENST00000508888.1_5'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	180						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATGGAGTAGTCAACATAGTGC	0.473000													4	7					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30308286	30308286	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:30308286G>A	ENST00000376659.5	+	7	1406	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TRIM39_ENST00000396551.3_Missense_Mutation_p.E270K|TRIM39_ENST00000540416.1_Missense_Mutation_p.E270K|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.E182K|TRIM39_ENST00000376656.4_Missense_Mutation_p.E300K|TRIM39_ENST00000396547.1_Missense_Mutation_p.E300K|TRIM39_ENST00000396548.1_Missense_Mutation_p.E270K	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCCTAGATGTGAAAAGGTGAA	0.438000													52	54					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067617	175067617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:175067617G>T	ENST00000239462.4	+	9	2118	c.2005G>T	c.(2005-2007)Gag>Tag	p.E669*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	669	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGGGGAAGGAGCAGAGCAG	0.642000													17	90					8.60227e-14	1.14697e-13	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766034	27766034	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:27766034C>A	ENST00000451261.2	+	5	1421	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGTGAAGATGCTGTTGTCTTC	0.463000													9	8					5.4927e-09	6.73409e-09	1	1	0
ZP1	22917	broad.mit.edu	37	11	60638562	60638562	+	Missense_Mutation	SNP	C	C	T	rs76136580	by1000genomes	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:60638562C>T	ENST00000278853.5	+	5	959	c.959C>T	c.(958-960)aCg>aTg	p.T320M		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	320	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACACAGCACACGGAAGCTTTC	0.592000													27	81					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198298	81198298	+	RNA	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:81198298G>T	ENST00000533478.1	-	0	1351				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAGGGAGGAGGCAGCGGGCAG	0.587000													25	31					5.35356e-11	6.77319e-11	1	1	0
CRYBG3	131544	broad.mit.edu	37	3	97634556	97634556	+	Silent	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:97634556C>G	ENST00000182096.4	+	14	2437	c.2373C>G	c.(2371-2373)gtC>gtG	p.V791V		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						CATCTAAAGTCAAATCTCTCA	0.383000													9	68					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100391819	100391819	+	RNA	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:100391819C>G	ENST00000542585.1	+	0	8274				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTGTGAGCCCTTCAGCTGCA	0.632000													22	96					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22041185	22041185	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:22041185C>T	ENST00000406385.1	+	12	855	c.795C>T	c.(793-795)gcC>gcT	p.A265A	PPIL2_ENST00000456792.2_Silent_p.A244A|PPIL2_ENST00000398831.3_Silent_p.A265A|PPIL2_ENST00000412327.1_Silent_p.A265A|PPIL2_ENST00000492445.2_Silent_p.A265A|PPIL2_ENST00000335025.7_Silent_p.A265A			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	265					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					TTGTAGCTGCCATCGACGAGG	0.637000													19	72					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373289	216373289	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:216373289G>T	ENST00000366943.2	-	17	3877	c.3491C>A	c.(3490-3492)tCt>tAt	p.S1164Y	USH2A_ENST00000366942.3_Missense_Mutation_p.S1164Y|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S1164Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1164	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTGTCACAGAGTCTGAGCC	0.448000										HNSCC(13;0.011)			39	124					6.97489e-18	9.52433e-18	1	1	0
CNST	163882	broad.mit.edu	37	1	246797885	246797885	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:246797885C>G	ENST00000366513.4	+	6	1083	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.Q272E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	272					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGCAACACATCAAGAGTAAGT	0.338000													44	71					0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949704	44949704	+	Missense_Mutation	SNP	C	C	T	rs140530326	byFrequency	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr21:44949704C>T	ENST00000291560.2	-	9	1266	c.935G>A	c.(934-936)cGc>cAc	p.R312H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	312					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCGGGGGTTGCGGCTCTTGGA	0.592000													14	55					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17305638	17305638	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:17305638G>T	ENST00000595618.1	+	22	3554	c.3402G>T	c.(3400-3402)gcG>gcT	p.A1134A	MYO9B_ENST00000397274.2_Silent_p.A1134A|MYO9B_ENST00000594824.1_Silent_p.A1134A	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1134	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACCGTGGCGGCTGAAAGTC	0.597000													9	32					0.307466	0.307466	1	1	0
UBR5	51366	broad.mit.edu	37	8	103339998	103339998	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:103339998C>A	ENST00000520539.1	-	12	2059	c.1453G>T	c.(1453-1455)Gct>Tct	p.A485S	UBR5_ENST00000521922.1_Missense_Mutation_p.A479S|UBR5_ENST00000220959.4_Missense_Mutation_p.A485S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	485					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCAGCTGAGCGCAGGTGTAA	0.423000													67	55					4.29146e-36	6.29414e-36	1	1	0
PLXNB2	23654	broad.mit.edu	37	22	50720417	50720417	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:50720417C>A	ENST00000449103.1	-	20	3351	c.3211G>T	c.(3211-3213)Gtg>Ttg	p.V1071L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.V1071L			O15031	PLXB2_HUMAN	plexin B2	1071	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCGATCAGCACCGTGAGGTTG	0.612000													11	23					0.000673444	0.00071497	1	1	0
MSH2	4436	broad.mit.edu	37	2	47703628	47703628	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:47703628G>C	ENST00000406134.1	+	13	2190	c.2128G>C	c.(2128-2130)Gcc>Ccc	p.A710P	MSH2_ENST00000543555.1_Missense_Mutation_p.A644P|MSH2_ENST00000233146.2_Missense_Mutation_p.A710P			P43246	MSH2_HUMAN	mutS homolog 2	710					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGCATCTTAGCCCGAGTAGG	0.468000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				30	63					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23653914	23653914	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:23653914G>T	ENST00000305877.8	+	19	3964	c.3213G>T	c.(3211-3213)gtG>gtT	p.V1071V	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.V1027V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1071	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCTACATCGTGCGCCAGTGCG	0.627000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								6	12					0.00198382	0.00207829	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36932024	36932024	+	Silent	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:36932024T>A	ENST00000373103.1	-	17	3073	c.2526A>T	c.(2524-2526)ccA>ccT	p.P842P	CSF3R_ENST00000440588.2_Silent_p.P842P|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000373106.1_Silent_p.P815P|CSF3R_ENST00000361632.4_Silent_p.P815P|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000418048.2_Silent_p.P815P	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	815					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGTTGAGCAGTGGCCCAAAGA	0.642000													8	26					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24486312	24486312	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:24486312G>T	ENST00000230036.1	-	2	254	c.144C>A	c.(142-144)aaC>aaA	p.N48K	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	48						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCTCTCTGTAGTTAACACGCC	0.318000													33	149					2.1956e-27	3.12754e-27	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119025619	119025619	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:119025619C>A	ENST00000307417.3	+	6	1044	c.680C>A	c.(679-681)cCc>cAc	p.P227H	ABCG4_ENST00000449422.2_Missense_Mutation_p.P227H|ABCG4_ENST00000531739.1_Missense_Mutation_p.P227H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	227	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTTGATGAGCCCACCAGGTAG	0.617000													31	176					2.46105e-21	3.44373e-21	1	1	0
CEP57	9702	broad.mit.edu	37	11	95564352	95564352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:95564352C>T	ENST00000325542.5	+	11	1673	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	CEP57_ENST00000537677.1_Nonsense_Mutation_p.Q452*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.Q453*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.Q470*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	479	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAATCTTCAGTTATTGAA	0.363000									Mosaic Variegated Aneuploidy Syndrome				21	58					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20620585	20620585	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:20620585G>A	ENST00000504154.1	+	37	4795	c.4543G>A	c.(4543-4545)Gag>Aag	p.E1515K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E1507K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1528K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1511K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1515	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTTGTGGACGAGGTTGAGAA	0.552000													9	50					0	0	1	0	0
TCEA3	6920	broad.mit.edu	37	1	23743853	23743853	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:23743853C>G	ENST00000450454.2	-	4	375	c.269G>C	c.(268-270)gGa>gCa	p.G90A	TCEA3_ENST00000461794.1_Missense_Mutation_p.G53A|TCEA3_ENST00000374601.3_Missense_Mutation_p.G90A	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	90					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		tctttcctctcctttttctcc	0.488000													9	35					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565354	56565354	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:56565354C>A	ENST00000323777.3	-	1	391	c.282G>T	c.(280-282)ctG>ctT	p.L94L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGCCCGCCCAGCACCACCT	0.682000													6	6					0.00116845	0.0012306	1	1	0
ZFP57	346171	broad.mit.edu	37	6	29643190	29643190	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:29643190G>A	ENST00000376883.1	-	5	676	c.265C>T	c.(265-267)Cat>Tat	p.H89Y	ZFP57_ENST00000488757.1_Missense_Mutation_p.H109Y|ZFP57_ENST00000376881.3_Missense_Mutation_p.H89Y			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	69					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TTTGGGAGATGGACAAACTCT	0.483000													27	175					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400842	40400842	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:40400842A>G	ENST00000338305.6	-	2	553	c.11T>C	c.(10-12)cTg>cCg	p.L4P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	4						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCACCAAGCAGGGTCTCCAT	0.587000													16	17					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12379902	12379902	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:12379902A>T	ENST00000256186.2	+	9	2255	c.1964A>T	c.(1963-1965)cAa>cTa	p.Q655L		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	655					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GAGCTGATGCAAGTGATTGAG	0.433000													58	146					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7030413	7030413	+	Missense_Mutation	SNP	G	G	C	rs142669653		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:7030413G>C	ENST00000382040.3	+	4	981	c.845G>C	c.(844-846)cGc>cCc	p.R282P	RSAD2_ENST00000541728.1_Missense_Mutation_p.R175P	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	282					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTCTTGGAGCGCCACAAAGAA	0.388000													23	83					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170034538	170034538	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:170034538T>G	ENST00000333572.6	-	20	2606	c.2087A>C	c.(2086-2088)aAc>aCc	p.N696T	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.N696T|WDR27_ENST00000423258.1_Missense_Mutation_p.N569T			A2RRH5	WDR27_HUMAN	WD repeat domain 27	666										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATAAAAGTCGTTGACTGCCGA	0.493000													5	16					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48730024	48730024	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:48730024T>C	ENST00000314191.2	-	69	9597	c.9541A>G	c.(9541-9543)Atc>Gtc	p.I3181V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I3181V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3182	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTGTGATGATGTCATCCCAG	0.388000								Non-homologous end-joining					3	23					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10132062	10132062	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:10132062C>G	ENST00000287647.3	+	37	3863	c.3770C>G	c.(3769-3771)tCg>tGg	p.S1257W	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1257W|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1257W|FANCD2_ENST00000383806.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1257					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGCAGACTCGCAGCAGGTG	0.383000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	23					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362726	55362726	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:55362726G>T	ENST00000290552.7	+	5	2168	c.836G>T	c.(835-837)gGg>gTg	p.G279V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	279						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCACAGCTGGGGACAGGCTG	0.677000													12	42					3.07112e-06	3.47475e-06	1	1	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047273	46047273	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr21:46047273G>C	ENST00000397911.3	+	1	234	c.185G>C	c.(184-186)tGt>tCt	p.C62S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	62	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGGTGACCTGTGAGCCCAGC	0.706000													7	105					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	37098437	37098437	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:37098437C>A	ENST00000300105.6	-	1	1166	c.185G>T	c.(184-186)gGa>gTa	p.G62V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	62					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTCCATAATCCGGAATGGGT	0.542000													22	105					2.89027e-11	3.69208e-11	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922134	24922134	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:24922134G>A	ENST00000329468.2	+	1	1594	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAAGAGCCCTGAGTATAAAAG	0.527000													18	33					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137517298	137517298	+	Splice_Site	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:137517298G>T	ENST00000394894.3	+	4	482	c.255_splice	c.e4-1	p.G86_splice	KIF20A_ENST00000508792.1_Splice_Site_p.G68_splice	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	86	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCTTCTCAGGGTTGTGTCCG	0.473000													23	56					2.48779e-11	3.18824e-11	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542717	133542717	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:133542717G>A	ENST00000409261.1	-	14	2040	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T556M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	556							protein binding	p.T556M(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TACCTGAGGCGTCTGCACACT	0.547000													19	101					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159136419	159136419	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:159136419A>G	ENST00000514558.1	+	3	1982	c.186A>G	c.(184-186)ccA>ccG	p.P62P	TMEM144_ENST00000296529.6_Silent_p.P62P			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	62						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TACATTGTCCAAAGTTTTGGC	0.358000													23	40					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805281	20805281	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:20805281G>T	ENST00000298925.5	+	4	477	c.324G>T	c.(322-324)ctG>ctT	p.L108L	NELL1_ENST00000357134.5_Silent_p.L80L|NELL1_ENST00000532434.1_Silent_p.L80L|NELL1_ENST00000325319.5_Silent_p.L80L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	80	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TAATTCAGCTGTTCCGGAACA	0.453000													12	53					0.000978159	0.0010357	1	1	0
SLC25A12	8604	broad.mit.edu	37	2	172749758	172749758	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:172749758G>C	ENST00000422440.2	-	2	60	c.23C>G	c.(22-24)aCt>aGt	p.T8S	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	8					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CCCTCGCTTAGTTGTCTGCAC	0.383000													17	42					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176863129	176863129	+	Silent	SNP	C	C	T	rs148176513		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:176863129C>T	ENST00000355472.5	+	12	1281	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	GRK6_ENST00000393576.3_Silent_p.L337L|GRK6_ENST00000507633.1_Silent_p.L371L|GRK6_ENST00000355958.5_Silent_p.L371L|GRK6_ENST00000528793.1_Silent_p.L371L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	371	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGGCGCTCGGCTGCCTCC	0.647000													6	30					0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43626788	43626788	+	Silent	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:43626788A>T	ENST00000378069.4	-	15	1635	c.1488T>A	c.(1486-1488)atT>atA	p.I496I	MAOB_ENST00000538942.1_3'UTR|MAOB_ENST00000536181.1_Silent_p.I480I	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	496					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGGTCAATCCAATCAGCCTGA	0.522000													49	9					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057273	102057273	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:102057273G>A	ENST00000549145.1	+	21	2355	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	MYBPC1_ENST00000392934.3_Missense_Mutation_p.R726H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R764H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R764H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R739H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R739H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R725H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R739H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R713H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R739H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R727H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R720H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R739H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R739H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R640H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	739	Fibronectin type-III 2.			Y -> H (in Ref. 3; CAD38925).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGAGGTGGCGCCCCCCAGAC	0.438000													17	105					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46715296	46715296	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:46715296G>C	ENST00000299138.7	-	4	374	c.316C>G	c.(316-318)Cca>Gca	p.P106A		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	106					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TACAGCCTTGGGATAATGTTT	0.368000													18	71					0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53492214	53492214	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:53492214T>G	ENST00000441222.2	-	4	716	c.532A>C	c.(532-534)Aat>Cat	p.N178H	USP46_ENST00000508499.1_Missense_Mutation_p.N171H|USP46_ENST00000451218.2_Missense_Mutation_p.N151H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	178					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CGAGTTTCATTGGTAAGCGTT	0.393000													13	24					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110756	17110756	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:17110756G>T	ENST00000377833.4	-	20	2704	c.2639C>A	c.(2638-2640)tCc>tAc	p.S880Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	880	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCCAAAATGGAACTGCTACC	0.279000													10	57					1.76689e-08	2.13972e-08	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11145656	11145656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:11145656G>T	ENST00000358026.2	+	29	4302	c.4018G>T	c.(4018-4020)Gag>Tag	p.E1340*	SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1307*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1340*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1340*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1340					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)				CCTCATGGAGGAGGACGAGCT	0.682000			"""F, N, Mis"""		NSCLC								5	9					0.014758	0.0151012	1	1	0
KIAA0101	9768	broad.mit.edu	37	15	64673550	64673550	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:64673550G>A	ENST00000300035.4	-	1	159	c.21C>T	c.(19-21)gaC>gaT	p.D7D	KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000558008.1_Silent_p.D7D|KIAA0101_ENST00000559519.1_Silent_p.D7D|KIAA0101_ENST00000380258.2_Silent_p.D7D	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	7						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						CTGGAACACTGTCTGCTTTAG	0.582000													31	155					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35743150	35743150	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:35743150C>T	ENST00000411850.1	+	15	1555	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000449058.2_Missense_Mutation_p.A476V|TOM1_ENST00000436462.2_Missense_Mutation_p.A438V|TOM1_ENST00000447733.1_Missense_Mutation_p.A444V|TOM1_ENST00000425375.1_Missense_Mutation_p.A431V	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	476					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCTGGCCCAGCGCCCCGGAAG	0.622000													24	32					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967524	81967524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:81967524G>T	ENST00000282701.2	+	2	1269	c.949G>T	c.(949-951)Gag>Tag	p.E317*		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	317					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGTGTGGGAGGAGAGAAAGCC	0.517000													20	20					1.56452e-12	2.05831e-12	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102187859	102187859	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:102187859G>T	ENST00000306176.1	+	8	961	c.861G>T	c.(859-861)cgG>cgT	p.R287R	ZPLD1_ENST00000466937.1_Silent_p.R271R|ZPLD1_ENST00000491959.1_Silent_p.R271R	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	271	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAAGCCAGCGGGGCCGGTTTT	0.478000													16	58					0.000566183	0.000604336	1	1	0
CNEP1R1	255919	broad.mit.edu	37	16	50059601	50059601	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:50059601G>A	ENST00000458059.3	+	2	971	c.65G>A	c.(64-66)gGt>gAt	p.G22D	CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000427478.2_Intron|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000567712.1_3'UTR	NM_153261.4	NP_694993.2	Q8N9A8	TM188_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	8						integral to membrane											GTGGTTTCCGGTAACTGCCAA	0.512000													7	27					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124233282	124233282	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:124233282A>T	ENST00000330342.3	+	15	2133	c.1885A>T	c.(1885-1887)Aac>Tac	p.N629Y		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	629					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGAATTTATTAACATGTTTTT	0.398000													50	80					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29604409	29604409	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:29604409C>A	ENST00000318184.5	-	22	2623	c.2624G>T	c.(2623-2625)tGg>tTg	p.W875L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	875	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGAGCACCCAAGAACATTC	0.433000													9	25					5.4927e-09	6.73409e-09	1	1	0
TUBA1C	84790	broad.mit.edu	37	12	49666924	49666924	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:49666924C>G	ENST00000301072.6	+	4	1539	c.1264C>G	c.(1264-1266)Cgt>Ggt	p.R422G	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.R492G	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	422					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R422S(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TTCAGAGGCCCGTGAGGACAT	0.542000													22	137					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590144	179590144	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:179590144G>T	ENST00000589042.1	-	71	21011	c.20787C>A	c.(20785-20787)atC>atA	p.I6929I	TTN_ENST00000591111.1_Silent_p.I6612I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I5685I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6612	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTGATTTGGCAGA	0.418000													8	25					5.18039e-06	5.81143e-06	1	1	0
TRBV24-1	28563	broad.mit.edu	37	7	142364555	142364555	+	RNA	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:142364555T>A	ENST00000390397.2	+	0	226																											GGGCCTACGGTTGATCTATTA	0.443000													11	18					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43787122	43787122	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:43787122G>A	ENST00000372476.3	+	21	3283	c.3204G>A	c.(3202-3204)caG>caA	p.Q1068Q	TIE1_ENST00000433781.2_Silent_p.Q713Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1068	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCTGCCCCAGGGCTACCGCA	0.572000													16	27					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242380815	242380815	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:242380815C>T	ENST00000264042.3	+	13	1425	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L	FARP2_ENST00000545004.1_Silent_p.L419L|FARP2_ENST00000373287.4_Silent_p.L419L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	419					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCCCTCTGGCCTGCCAGAGTT	0.592000													16	53					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959956	13959956	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:13959956C>A	ENST00000382080.1	-	7	1388	c.673G>T	c.(673-675)Gtg>Ttg	p.V225L	SGCZ_ENST00000421524.2_Missense_Mutation_p.V178L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	212					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGCACTCACCTGGACCCCA	0.493000													6	22					0.217242	0.218345	1	1	0
CYBRD1	79901	broad.mit.edu	37	2	172398249	172398249	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:172398249G>C	ENST00000321348.4	+	2	546	c.348G>C	c.(346-348)atG>atC	p.M116I	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000409484.1_Missense_Mutation_p.M58I	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	116	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TAGCCAATATGTACAGTCTGC	0.393000													37	88					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15131993	15131993	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:15131993C>T	ENST00000253699.3	-	5	815	c.202G>A	c.(202-204)Gat>Aat	p.D68N	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.D68N|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.D68N	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	68					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCTCGATCATCCCCTTCTCGT	0.443000													14	73					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151474930	151474930	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:151474930T>G	ENST00000356517.3	+	5	863	c.754T>G	c.(754-756)Tta>Gta	p.L252V	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	252						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACTCGTGAGCTTATATTTCAC	0.413000													21	275					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107867120	107867120	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:107867120G>T	ENST00000370067.1	+	3	1090	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	NTNG1_ENST00000370073.2_Missense_Mutation_p.G155W|NTNG1_ENST00000542803.1_Missense_Mutation_p.G155W|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Missense_Mutation_p.G155W|NTNG1_ENST00000370071.2_Missense_Mutation_p.G155W|NTNG1_ENST00000370065.1_Missense_Mutation_p.G155W|NTNG1_ENST00000370070.2_Missense_Mutation_p.G155W|NTNG1_ENST00000370066.1_Missense_Mutation_p.G155W|NTNG1_ENST00000370072.3_Missense_Mutation_p.G155W|NTNG1_ENST00000370068.1_Missense_Mutation_p.G155W|NTNG1_ENST00000370074.4_Missense_Mutation_p.G155W			Q9Y2I2	NTNG1_HUMAN	netrin G1	155	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTTTGAATCTGGGCGTCCAGA	0.448000													16	77					1.99824e-07	2.34808e-07	1	1	0
CCDC135	84229	broad.mit.edu	37	16	57756727	57756727	+	Missense_Mutation	SNP	G	G	T	rs141168933		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:57756727G>T	ENST00000360716.3	+	11	1603	c.1382G>T	c.(1381-1383)cGc>cTc	p.R461L	CCDC135_ENST00000394337.4_Missense_Mutation_p.R461L|CCDC135_ENST00000336825.8_Missense_Mutation_p.R396L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	461						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTTGTGAGCCGCCTCACCACC	0.597000													15	45					2.35188e-11	3.0337e-11	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126738260	126738260	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:126738260G>T	ENST00000274473.6	+	9	1070	c.803G>T	c.(802-804)tGc>tTc	p.C268F	MEGF10_ENST00000503335.2_Missense_Mutation_p.C268F|MEGF10_ENST00000508365.1_Missense_Mutation_p.C268F|MEGF10_ENST00000418761.2_Missense_Mutation_p.C268F	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	268	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGTCAGCCTTGCCCCGAGGGT	0.512000													16	55					0.00316338	0.00329657	1	1	0
NFYC	4802	broad.mit.edu	37	1	41213267	41213267	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:41213267A>T	ENST00000372652.1	+	3	435	c.167A>T	c.(166-168)gAa>gTa	p.E56V	NFYC_ENST00000372654.1_Missense_Mutation_p.E56V|NFYC_ENST00000440226.3_Missense_Mutation_p.E56V|NFYC_ENST00000372653.1_Missense_Mutation_p.E56V|NFYC_ENST00000425457.2_Missense_Mutation_p.E56V|NFYC_ENST00000456393.2_Missense_Mutation_p.E56V|NFYC_ENST00000447388.3_Missense_Mutation_p.E56V|NFYC_ENST00000427410.2_Missense_Mutation_p.E56V|NFYC_ENST00000372651.1_Missense_Mutation_p.E56V|NFYC_ENST00000308733.5_Missense_Mutation_p.E56V			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	56					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			AAACTGGATGAAGATGTGAAG	0.363000													9	22					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769416	31769416	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:31769416G>A	ENST00000240587.4	-	2	1610	c.1283C>T	c.(1282-1284)aCg>aTg	p.T428M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	428					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGTGACAGGCGTCTCCACAAT	0.577000													10	123					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77227934	77227934	+	Silent	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:77227934C>G	ENST00000237642.6	+	1	756	c.12C>G	c.(10-12)gtC>gtG	p.V4V	FAM47E_ENST00000515604.1_Intron|FAM47E-STBD1_ENST00000539752.1_Intron	NM_003943.4	NP_003934.1																					TGGGCGCCGTCTGGTCCGCCC	0.716000													18	15					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149522	34149522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:34149522C>A	ENST00000346193.3	-	1	925	c.874G>T	c.(874-876)Gag>Tag	p.E292*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	292										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTACCAGGCTCTGTGGGTTCG	0.572000													7	14					2.0095e-06	2.28667e-06	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149521	34149521	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:34149521T>A	ENST00000346193.3	-	1	926	c.875A>T	c.(874-876)gAg>gTg	p.E292V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	292										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTACCAGGCTCTGTGGGTTC	0.572000													7	12					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233245150	233245150	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:233245150C>A	ENST00000392027.2	+	7	1082	c.813C>A	c.(811-813)aaC>aaA	p.N271K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	271						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		ATGTGTGGAACCGCACTGAGC	0.657000													8	70					5.18039e-06	5.81143e-06	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6737391	6737391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:6737391G>A	ENST00000405858.1	-	3	608	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	ZNF12_ENST00000342651.5_Nonsense_Mutation_p.Q23*|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_5'UTR	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	23	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCCAGCTGCTGCCATTCCTCC	0.498000													63	123					0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3765209	3765209	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:3765209C>G	ENST00000330133.4	+	2	201	c.164C>G	c.(163-165)gCc>gGc	p.A55G		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	55						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCGAGGCCCTCAAGGAC	0.572000													9	15					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281962	129281962	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:129281962C>A	ENST00000393239.1	-	26	4821	c.4643G>T	c.(4642-4644)cGg>cTg	p.R1548L	PLXND1_ENST00000324093.4_Missense_Mutation_p.R1548L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1548					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GATGTTCTCCCGCAGCAGCCA	0.632000													12	26					4.3838e-07	5.03184e-07	1	1	0
IRF2BP2	359948	broad.mit.edu	37	1	234743085	234743085	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:234743085C>G	ENST00000366609.3	-	2	1592	c.1562G>C	c.(1561-1563)tGc>tCc	p.C521S	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.C505S|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	521	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GACGGACGGGCACTGCACAAA	0.602000													33	125					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116447425	116447425	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:116447425G>T	ENST00000410059.1	+	7	984	c.504G>T	c.(502-504)tgG>tgT	p.W168C	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.W161C|DPP10_ENST00000409163.1_Missense_Mutation_p.W118C|DPP10_ENST00000393147.2_Missense_Mutation_p.W172C	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	168					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.W168C(1)|p.W161C(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGGAAGTTTGGGAGTTAAATC	0.423000													12	37					1.08611e-07	1.28772e-07	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	40					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9571001	9571001	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:9571001C>A	ENST00000460593.1	+	4	1360	c.222C>A	c.(220-222)gtC>gtA	p.V74V	CPSF3_ENST00000238112.3_Silent_p.V111V			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	111					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CTGATTATGTCAAAGTTAGGT	0.353000													24	49					1.22574e-08	1.49351e-08	1	1	0
NVL	4931	broad.mit.edu	37	1	224514102	224514102	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:224514102C>T	ENST00000281701.6	-	2	381	c.122G>A	c.(121-123)aGa>aAa	p.R41K	NVL_ENST00000482491.1_Intron|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000340871.4_Intron|NVL_ENST00000469075.1_Missense_Mutation_p.R41K|NVL_ENST00000361463.3_Intron|NVL_ENST00000391875.2_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	41						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CCTGTACACTCTTTGTAAATC	0.323000													21	53					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13222584	13222584	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:13222584G>C	ENST00000378694.1	+	6	982	c.907G>C	c.(907-909)Gtt>Ctt	p.V303L	MCM10_ENST00000484800.2_Missense_Mutation_p.V304L|MCM10_ENST00000378714.3_Missense_Mutation_p.V303L			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	304				K -> R (in Ref. 3; BAB70988).	cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ATTGAAGAAGGTTACGCCACA	0.413000													39	138					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149559182	149559182	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:149559182G>T	ENST00000223210.4	+	7	3178	c.2933G>T	c.(2932-2934)tGc>tTc	p.C978F		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TATTTCGAGTGCTCCCTCCCA	0.527000													85	62					8.55712e-49	1.26441e-48	1	1	0
C7	730	broad.mit.edu	37	5	40958222	40958222	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:40958222G>T	ENST00000313164.9	+	11	1707	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	450	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGAGTATCTGGATGAATTTGA	0.443000													13	40					4.3838e-07	5.03184e-07	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41337796	41337796	+	Splice_Site	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:41337796G>T	ENST00000551295.2	+	14	1624		c.e14-1		CNTN1_ENST00000360099.3_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site|CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000547849.1_Splice_Site|CNTN1_ENST00000547702.1_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAATATATAGATCCTACGCG	0.333000													15	41					6.31663e-08	7.57995e-08	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:120489647G>A	ENST00000283875.5	+	3	614	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423000													38	154					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157364132	157364132	+	Splice_Site	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:157364132C>T	ENST00000389413.3	-	19	2853	c.2750_splice	c.e19+1	p.S917_splice	PTPRN2_ENST00000389418.4_Splice_Site_p.S946_splice|PTPRN2_ENST00000389416.4_Splice_Site_p.S929_splice|PTPRN2_ENST00000404321.2_Splice_Site_p.S969_splice|PTPRN2_ENST00000409483.1_Splice_Site_p.S908_splice	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	946	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TTGTACTTGCCTGCAATGAAC	0.299000													33	44					0	0	1	0	0
COPZ1	22818	broad.mit.edu	37	12	54734289	54734289	+	Translation_Start_Site	SNP	A	A	G	rs11170877	by1000genomes	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:54734289A>G	ENST00000549043.1	+	2	96	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COPZ1_ENST00000553231.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000262061.2_Intron|COPZ1_ENST00000548753.1_Intron|COPZ1_ENST00000548281.1_Intron			P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	0					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						ACCAGTGGTGATGGGAGGCTT	0.488000													6	74					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117996	108117996	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:108117996G>A	ENST00000273353.3	-	35	4971	c.4915C>T	c.(4915-4917)Ctc>Ttc	p.L1639F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1639						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTAAGCTGGAGTTCCATCTCA	0.473000													13	68					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894599	166894599	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:166894599A>G	ENST00000423058.2	-	15	2650	c.2633T>C	c.(2632-2634)aTg>aCg	p.M878T	SCN1A_ENST00000303395.4_Missense_Mutation_p.M878T|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M867T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M850T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	878						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTTTATTAGCATATTTAACGT	0.388000													30	45					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404219	20404219	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr14:20404219T>A	ENST00000285600.4	+	1	453	c.394T>A	c.(394-396)Tac>Aac	p.Y132N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCTCTGCACTACAGTACAAT	0.443000													11	160					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66844652	66844652	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:66844652T>C	ENST00000379463.2	-	15	1232	c.1040A>G	c.(1039-1041)gAt>gGt	p.D347G	NAE1_ENST00000394074.2_Missense_Mutation_p.D264G|NAE1_ENST00000359087.4_Missense_Mutation_p.D356G|NAE1_ENST00000290810.3_Missense_Mutation_p.D353G	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	353					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	AGCGGCAGCATCTTTCTTTGC	0.378000													45	89					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129492705	129492705	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:129492705G>C	ENST00000543953.1	+	6	534	c.485G>C	c.(484-486)tGg>tCg	p.W162S	SLC25A14_ENST00000339231.3_Missense_Mutation_p.W194S|SLC25A14_ENST00000218197.5_Missense_Mutation_p.W197S|SLC25A14_ENST00000361980.5_Missense_Mutation_p.W194S|SLC25A14_ENST00000545805.1_Missense_Mutation_p.W197S|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	197					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGGGGTCTGTGGAGGGTAAGT	0.373000													7	38					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173349966	173349966	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:173349966G>T	ENST00000375221.2	+	14	2148	c.1945G>T	c.(1945-1947)Gat>Tat	p.D649Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.D491Y|ITGA6_ENST00000264106.6_Missense_Mutation_p.D649Y|ITGA6_ENST00000264107.7_Missense_Mutation_p.D610Y|ITGA6_ENST00000409080.1_Missense_Mutation_p.D610Y|ITGA6_ENST00000343713.4_Missense_Mutation_p.D605Y			P23229	ITA6_HUMAN	integrin, alpha 6	649					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCTGAATTCAGATGAACCCAA	0.418000													45	62					2.68985e-26	3.80422e-26	1	1	0
INO80	54617	broad.mit.edu	37	15	41388441	41388441	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:41388441T>A	ENST00000361937.3	-	2	492	c.68A>T	c.(67-69)cAg>cTg	p.Q23L	INO80_ENST00000401393.3_Missense_Mutation_p.Q23L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	23	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCCAAGTACTGAAGATAGAG	0.478000													11	23					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158619688	158619688	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:158619688C>A	ENST00000368148.3	-	25	3707	c.3527G>T	c.(3526-3528)cGg>cTg	p.R1176L	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1176L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1176					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGCTGCCGCTGTTCATC	0.443000													5	29					0.000602214	0.000641067	1	1	0
ABCA4	24	broad.mit.edu	37	1	94526108	94526108	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:94526108C>A	ENST00000370225.3	-	14	2231	c.2145G>T	c.(2143-2145)ctG>ctT	p.L715L	ABCA4_ENST00000535735.1_Silent_p.L715L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	715					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGAATATCGTCAGGAGGAAGA	0.458000													17	48					3.41278e-10	4.29036e-10	1	1	0
MBD5	55777	broad.mit.edu	37	2	149240745	149240745	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:149240745C>G	ENST00000407073.1	+	10	3582	c.2585C>G	c.(2584-2586)aCa>aGa	p.T862R	MBD5_ENST00000404807.1_Missense_Mutation_p.T862R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	862						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ACAAAGACAACATCTGTTCTT	0.478000													9	120					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164786581	164786581	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:164786581G>T	ENST00000264382.3	-	5	474	c.412C>A	c.(412-414)Cta>Ata	p.L138I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	138	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTCCAAATAGTGTAGGTGAA	0.333000										HNSCC(35;0.089)			12	85					2.27111e-07	2.64518e-07	1	1	0
CHDH	55349	broad.mit.edu	37	3	53854579	53854579	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:53854579G>A	ENST00000315251.5	-	6	1479	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	348					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGATAGGGCGGGTGCATGCC	0.557000													33	99					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38095364	38095364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr21:38095364C>A	ENST00000290399.6	+	5	1089	c.476C>A	c.(475-477)tCg>tAg	p.S159*	SIM2_ENST00000430056.3_Nonsense_Mutation_p.S159*	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	159					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						ATAGAGAGGTCGTTCTTTCTT	0.557000													15	70					2.23348e-06	2.53427e-06	1	1	0
RRM1	6240	broad.mit.edu	37	11	4123249	4123249	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:4123249G>C	ENST00000300738.5	+	2	250	c.46G>C	c.(46-48)Gac>Cac	p.D16H	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	16	ATP-cone.|Allosteric activator binding (By similarity).				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGTCATGTTTGACAAAATTAC	0.323000													13	50					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085432	152085432	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:152085432A>G	ENST00000368804.1	-	2	260	c.261T>C	c.(259-261)taT>taC	p.Y87Y		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	87	S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCGAGAGCATAGTAACAAG	0.493000													30	89					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333154	54333154	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:54333154A>G	ENST00000243056.3	+	1	620	c.464A>G	c.(463-465)gAg>gGg	p.E155G	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						AAATACCCGGAGCCGTCGGGC	0.667000			T	NUP98	AML								8	12					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293208	49293208	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:49293208T>C	ENST00000559471.1	-	15	2377	c.2114A>G	c.(2113-2115)tAc>tGc	p.Y705C	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y660C	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	705										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATCTTTTTGGTAGATGCGTTC	0.368000													36	32					0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37088314	37088314	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:37088314T>A	ENST00000263918.4	-	13	1638	c.1630A>T	c.(1630-1632)Aat>Tat	p.N544Y	STRN_ENST00000379213.2_Missense_Mutation_p.N495Y	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	544					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTAGTGGTATTCCAGCCCTGG	0.403000													25	47					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603577	95603577	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:95603577C>T	ENST00000343958.4	-	2	1706	c.1483G>A	c.(1483-1485)Gtc>Atc	p.V495I	FGD6_ENST00000546711.1_Missense_Mutation_p.V495I|FGD6_ENST00000549499.1_Missense_Mutation_p.V495I	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	495					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTTTGGGGACAATTCGTAGA	0.413000													13	138					0	0	1	0	0
GATAD1	57798	broad.mit.edu	37	7	92083984	92083984	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:92083984G>T	ENST00000287957.3	+	4	881	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S		NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	202							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTGATCCCGCCTCCTATAT	0.428000													46	83					6.61955e-31	9.53215e-31	1	1	0
USP48	84196	broad.mit.edu	37	1	22030038	22030038	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:22030038G>A	ENST00000308271.9	-	21	3237	c.2589C>T	c.(2587-2589)acC>acT	p.T863T	USP48_ENST00000374732.3_Silent_p.T401T|USP48_ENST00000529637.1_Silent_p.T875T|USP48_ENST00000400301.1_Silent_p.T863T	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	863					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGACATAGATGGTGGCTTGAG	0.433000													16	92					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944151	39944151	+	Splice_Site	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:39944151G>T	ENST00000281961.2	+	4	710	c.652_splice	c.e4-1	p.G218_splice	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		TATTTATAGGGATATTTTGCA	0.408000													28	137					6.38683e-12	8.29241e-12	1	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18123431	18123431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:18123431G>T	ENST00000278816.2	+	2	777	c.127G>T	c.(127-129)Gag>Tag	p.E43*	CSRP2BP_ENST00000435364.2_Nonsense_Mutation_p.E43*|CSRP2BP_ENST00000377681.2_Nonsense_Mutation_p.E43*|CSRP2BP_ENST00000604915.1_Nonsense_Mutation_p.E43*|PET117_ENST00000432901.2_3'UTR			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	43					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGTCGAATCCGAGGATCAGGC	0.542000													7	64					5.18039e-06	5.81143e-06	1	1	0
QSER1	79832	broad.mit.edu	37	11	32979468	32979468	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:32979468C>G	ENST00000399302.2	+	8	4753	c.4418C>G	c.(4417-4419)tCa>tGa	p.S1473*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.S1234*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1473										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCTCTAGCATCAAAAACTACA	0.373000													6	31					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129236352	129236352	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:129236352C>T	ENST00000296266.3	+	28	3651	c.3459C>T	c.(3457-3459)atC>atT	p.I1153I	IFT122_ENST00000504021.1_Silent_p.I979I|IFT122_ENST00000440957.2_Silent_p.I893I|IFT122_ENST00000349441.2_Silent_p.I992I|IFT122_ENST00000348417.2_Silent_p.I1102I|IFT122_ENST00000507564.1_Silent_p.I1095I|IFT122_ENST00000347300.2_Silent_p.I1043I|IFT122_ENST00000431818.2_Silent_p.I952I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1102					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AGGAAGGGATCACTGATGAAG	0.557000													29	45					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24995868	24995868	+	Splice_Site	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:24995868T>C	ENST00000537502.1	-	6	2529		c.e6-2		ACSS1_ENST00000542618.1_Splice_Site|ACSS1_ENST00000432802.2_Splice_Site|ACSS1_ENST00000323482.4_Splice_Site			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1						acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCTCCCACTGAAACCACAC	0.478000													13	39					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91524843	91524843	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:91524843T>G	ENST00000361188.5	-	5	1769	c.558A>C	c.(556-558)gaA>gaC	p.E186D	PRC1_ENST00000361919.3_Missense_Mutation_p.E186D|PRC1_ENST00000394249.3_Missense_Mutation_p.E186D|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.E145D			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	186	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTCTAATGCTTCCATACACA	0.398000													20	103					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230203	56230203	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:56230203G>A	ENST00000279791.1	-	1	674	c.675C>T	c.(673-675)cgC>cgT	p.R225R		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CAGAGCGCATGCGTAGCACAG	0.478000													10	17					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356922	149356922	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:149356922G>A	ENST00000355292.3	-	2	1453	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	NR3C2_ENST00000511528.1_Missense_Mutation_p.T364M|NR3C2_ENST00000342437.4_Missense_Mutation_p.T364M|NR3C2_ENST00000358102.3_Missense_Mutation_p.T364M|NR3C2_ENST00000512865.1_Missense_Mutation_p.T364M|NR3C2_ENST00000344721.4_Missense_Mutation_p.T364M			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	364	Modulating.				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)	TTTCTCCTGCGTGTCTGGACT	0.502000													11	52					0	0	1	0	0
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304569	66304569	+	RNA	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:66304569G>T	ENST00000457166.1	-	0	236					NR_003934.1																						TCCGATGGCAGGTGCCCAGCC	0.532000													12	24					2.27111e-07	2.64518e-07	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578433	67578433	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:67578433T>A	ENST00000310421.4	-	1	1019	c.761A>T	c.(760-762)cAa>cTa	p.Q254L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	254	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GAACAGAGCTTGATATCGGGC	0.517000													8	90					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144109082	144109082	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:144109082A>G	ENST00000307017.4	+	2	1292	c.786A>G	c.(784-786)gtA>gtG	p.V262V	USP38_ENST00000510377.1_Silent_p.V262V	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	262					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATCCAAATGTAAAAGATGCAA	0.398000													19	36					0	0	1	0	0
FAM216B	144809	broad.mit.edu	37	13	43358239	43358239	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr13:43358239G>T	ENST00000537894.1	+	2	159	c.36G>T	c.(34-36)tgG>tgT	p.W12C	FAM216B_ENST00000313851.1_Missense_Mutation_p.W12C	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B	12																	AAAAGCTTTGGAATGTTCCAC	0.338000													19	42					3.5997e-14	4.81581e-14	1	1	0
SLC17A4	10050	broad.mit.edu	37	6	25776916	25776916	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:25776916C>A	ENST00000377905.4	+	9	1200	c.1081C>A	c.(1081-1083)Ctc>Atc	p.L361I	SLC17A4_ENST00000439485.2_Missense_Mutation_p.L131I|SLC17A4_ENST00000397076.2_Missense_Mutation_p.L131I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	361					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGAAAAATCCTCAGACTCAT	0.493000													77	67					4.98926e-31	7.21075e-31	1	1	0
OR2M2	391194	broad.mit.edu	37	1	248344073	248344073	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:248344073C>T	ENST00000359682.2	+	1	786	c.786C>T	c.(784-786)ccC>ccT	p.P262P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATACGGCCCACATCTGATC	0.517000													55	244					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2975678	2975678	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:2975678G>A	ENST00000342628.2	-	5	969	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	FOXM1_ENST00000361953.3_Missense_Mutation_p.R286C|FOXM1_ENST00000359843.3_Missense_Mutation_p.R286C|FOXM1_ENST00000537018.1_5'UTR	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	286					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGTTGTGGCGGATGGAGTTC	0.522000													17	25					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33263452	33263452	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr18:33263452A>G	ENST00000269195.5	+	4	682	c.579A>G	c.(577-579)agA>agG	p.R193R	GALNT1_ENST00000537549.1_Silent_p.R133R	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	193	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCAGAGCTAGATTAAAAGGAG	0.438000													8	21					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697480	17697480	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:17697480C>A	ENST00000399080.2	-	1	2226	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	735										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAGAATTACCATGTGCTTTA	0.303000													24	86					6.12954e-19	8.48705e-19	1	1	0
NXF3	56000	broad.mit.edu	37	X	102333522	102333522	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:102333522G>T	ENST00000395065.3	-	17	1518	c.1417C>A	c.(1417-1419)Cgg>Agg	p.R473R	NXF3_ENST00000425644.1_Silent_p.R145R|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	473	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R473R(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATGAAGGTCCGGGTGAAGGCG	0.542000													29	56					0.000491102	0.000525612	1	1	0
WDR78	79819	broad.mit.edu	37	1	67306171	67306171	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:67306171G>T	ENST00000371026.3	-	9	1530	c.1475C>A	c.(1474-1476)gCc>gAc	p.A492D	WDR78_ENST00000431318.1_Missense_Mutation_p.A238D|WDR78_ENST00000371023.3_Missense_Mutation_p.A492D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	492										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTATTCCAGGCAAGGCTGCT	0.368000													10	59					2.80697e-09	3.46281e-09	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478689	21478689	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:21478689G>C	ENST00000281523.2	-	5	964	c.446C>G	c.(445-447)aCt>aGt	p.T149S	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	149	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.T149N(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGTCCCTGCAGTACCGTCTGT	0.393000													31	59					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146813557	146813557	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:146813557C>G	ENST00000508784.1	-	3	1331	c.1104G>C	c.(1102-1104)gaG>gaC	p.E368D	ZNF827_ENST00000379448.4_Missense_Mutation_p.E368D|ZNF827_ENST00000513320.1_Missense_Mutation_p.E18D			Q17R98	ZN827_HUMAN	zinc finger protein 827	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTCCACTTTCCTCTTCTGAGG	0.398000													17	31					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624500	21624500	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:21624500A>G	ENST00000444129.2	-	13	1997	c.1529T>C	c.(1528-1530)cTc>cCc	p.L510P	RECQL_ENST00000421138.2_Missense_Mutation_p.L510P	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	510					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATGGAGTGAGTTTTTCATT	0.418000								Other identified genes with known or suspected DNA repair function					18	165					0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126075617	126075617	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:126075617G>C	ENST00000368364.3	+	4	450	c.253G>C	c.(253-255)Gca>Cca	p.A85P	HEY2_ENST00000368365.1_Missense_Mutation_p.A39P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	85	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAAGGGATCTGCAAAGTTAGA	0.308000													5	45					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847197	101847197	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:101847197G>T	ENST00000369138.1	+	1	534	c.44G>T	c.(43-45)cGc>cTc	p.R15L	GRIK2_ENST00000358361.3_Missense_Mutation_p.R15L|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15L|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15L|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15L|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15L	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCTTCAGGCGCACCGTTAAA	0.473000													25	73					9.39395e-14	1.24832e-13	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201054080	201054080	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:201054080G>A	ENST00000362061.3	-	9	1456	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CACNA1S_ENST00000367338.3_Silent_p.F410F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	410					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATACTCACATGAACTGGATGA	0.512000													4	49					0	0	1	0	0
IGLC3	3539	broad.mit.edu	37	22	23248712	23248712	+	RNA	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:23248712G>T	ENST00000390325.2	+	0	201																											CAAGTACGCGGCCAGCAGCTA	0.617000													10	76					0.000442599	0.000474985	1	1	0
RNF40	9810	broad.mit.edu	37	16	30779967	30779967	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:30779967G>A	ENST00000324685.6	+	14	2442	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	RNF40_ENST00000563683.1_Missense_Mutation_p.M629I|RNF40_ENST00000402121.3_Missense_Mutation_p.M361I|RNF40_ENST00000357890.5_Missense_Mutation_p.M569I	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	669					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAAGGAGATGAAACTGCTGC	0.587000													24	37					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740186	176740186	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:176740186C>A	ENST00000367662.3	+	17	5749	c.4585C>A	c.(4585-4587)Cct>Act	p.P1529T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1529	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGATGCTCCCCCTATTATTCT	0.512000													19	67					3.51602e-12	4.59519e-12	1	1	0
OCA2	4948	broad.mit.edu	37	15	28326922	28326922	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:28326922G>T	ENST00000354638.3	-	2	254	c.99C>A	c.(97-99)gcC>gcA	p.A33A	OCA2_ENST00000382996.2_Silent_p.A33A|OCA2_ENST00000353809.5_Silent_p.A33A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	33					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGCGCTTGCCGGCCACAAGTT	0.726000									Oculocutaneous Albinism				9	33					0.00448238	0.00465885	1	1	0
CCNI2	645121	broad.mit.edu	37	5	132085054	132085054	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:132085054C>G	ENST00000378731.1	+	3	624	c.573C>G	c.(571-573)taC>taG	p.Y191*		NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	191					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGAAATACCTGCATTGCG	0.418000													7	43					0	0	1	0	0
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304570	66304570	+	RNA	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:66304570G>T	ENST00000457166.1	-	0	235					NR_003934.1																						CCGATGGCAGGTGCCCAGCCA	0.532000													12	24					2.27111e-07	2.64518e-07	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656189	40656189	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:40656189A>G	ENST00000406785.1	-	2	1421	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	SLC8A1_ENST00000402441.1_Missense_Mutation_p.F411S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F411S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F411S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F411S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F411S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F411S|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F411S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F411S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F411S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	411	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCCTTGTTCAAAGAAGATCTT	0.453000													22	77					0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651964	248651964	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:248651964C>A	ENST00000366473.2	+	1	80	c.75C>A	c.(73-75)tcC>tcA	p.S25S		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGACGATCCAAACATCCAG	0.502000													19	184					3.6726e-16	4.99777e-16	1	1	0
POTEG	404785	broad.mit.edu	37	14	19573142	19573142	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr14:19573142A>C	ENST00000409832.3	+	8	1292	c.1240A>C	c.(1240-1242)Aag>Cag	p.K414Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	414										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGTGATAGAAAGGTATACTT	0.323000													19	124					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206614559	206614559	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:206614559G>A	ENST00000360409.3	+	11	2688	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	NRP2_ENST00000540178.1_Missense_Mutation_p.E633K|NRP2_ENST00000357785.5_Missense_Mutation_p.E633K|NRP2_ENST00000540841.1_Missense_Mutation_p.E633K|NRP2_ENST00000357118.4_Missense_Mutation_p.E633K|NRP2_ENST00000412873.2_Missense_Mutation_p.E633K|NRP2_ENST00000272849.3_Missense_Mutation_p.E633K	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	633					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGCAGCTTTGAGGATGGTAA	0.597000													14	29					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670439	158670439	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:158670439C>T	ENST00000359610.2	-	1	47	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTGGGGCTCTCCATCTCCAAG	0.443000													16	60					0	0	1	0	0
FAM216B	144809	broad.mit.edu	37	13	43358238	43358238	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr13:43358238G>T	ENST00000537894.1	+	2	158	c.35G>T	c.(34-36)tGg>tTg	p.W12L	FAM216B_ENST00000313851.1_Missense_Mutation_p.W12L	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN	family with sequence similarity 216, member B	12																	CAAAAGCTTTGGAATGTTCCA	0.338000													18	41					7.45023e-12	9.64147e-12	1	1	0
LARGE	9215	broad.mit.edu	37	22	34046371	34046371	+	Silent	SNP	C	C	A	rs114558328	by1000genomes	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:34046371C>A	ENST00000354992.2	-	4	961	c.390G>T	c.(388-390)ccG>ccT	p.P130P	LARGE_ENST00000437602.2_Silent_p.P130P|LARGE_ENST00000337431.2_Silent_p.P130P|LARGE_ENST00000402320.1_Silent_p.P130P|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Silent_p.P130P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	130					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTCCACGACCGGCTGCTGCC	0.597000													38	86					2.19489e-29	3.14919e-29	1	1	0
ECI1	1632	broad.mit.edu	37	16	2293082	2293082	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:2293082G>A	ENST00000301729.4	-	6	754	c.707C>T	c.(706-708)gCg>gTg	p.A236V	ECI1_ENST00000562238.1_Missense_Mutation_p.A219V|ECI1_ENST00000570258.1_Missense_Mutation_p.A177V	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	236					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity			endometrium(1)|large_intestine(2)|lung(6)	9						CGCTGACAGCGCAGTGCTCTG	0.677000													5	15					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100377982	100377982	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:100377982G>C	ENST00000547776.2	-	1	33	c.34C>G	c.(34-36)Cgc>Ggc	p.R12G	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R12G	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	12						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTCCAGTGCGAGCAGCTTCC	0.627000													16	33					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299876	158299876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:158299876C>A	ENST00000368168.3	-	3	480	c.373G>T	c.(373-375)Gga>Tga	p.G125*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	125					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGGCACCTCCAGAATGTAGC	0.473000													61	185					2.01435e-15	2.72246e-15	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11145655	11145655	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:11145655G>T	ENST00000358026.2	+	29	4301	c.4017G>T	c.(4015-4017)gaG>gaT	p.E1339D	SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1306D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1306D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1306D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1306D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1306D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1306D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1339D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1339D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1339					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)				GCCTCATGGAGGAGGACGAGC	0.687000			"""F, N, Mis"""		NSCLC								5	9					0.014758	0.0151012	1	1	0
CPS1	1373	broad.mit.edu	37	2	211447391	211447391	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:211447391G>T	ENST00000233072.5	+	6	775	c.579G>T	c.(577-579)gtG>gtT	p.V193V	CPS1_ENST00000430249.2_Silent_p.V199V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	193	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGATTTTGTGGATCCAAATA	0.353000													17	99					5.03518e-11	6.39081e-11	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108367049	108367049	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:108367049C>T	ENST00000263054.6	-	23	3047	c.3040G>A	c.(3040-3042)Ggg>Agg	p.G1014R	SORCS1_ENST00000369698.1_Missense_Mutation_p.G549R|SORCS1_ENST00000344440.6_Missense_Mutation_p.G1014R|SORCS1_ENST00000478809.2_5'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1014						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTGGAACCCCTGTGGCCTGA	0.562000													13	28					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84700088	84700088	+	Splice_Site	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:84700088G>A	ENST00000286744.5	+	28	4882	c.4656_splice	c.e28-1	p.C1553_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.C1553_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1553						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTCCAGTGTCCTGGACGT	0.488000													35	224					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499068	52499068	+	Silent	SNP	C	C	T	rs143842489		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:52499068C>T	ENST00000371614.1	-	1	420	c.366G>A	c.(364-366)gcG>gcA	p.A122A	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron|TXNDC12_ENST00000472624.1_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	122							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGTTCTCGTTCGCGCCCGCCA	0.726000													9	65					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36348799	36348799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr13:36348799C>A	ENST00000255448.4	-	18	2381	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*	DCLK1_ENST00000379893.1_Missense_Mutation_p.R392L|DCLK1_ENST00000360631.3_Missense_Mutation_p.R699L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTTGCGTCTTCGTCGGAAAAC	0.537000													8	5					1.12685e-05	1.24995e-05	1	1	0
SOD3	6649	broad.mit.edu	37	4	24801466	24801466	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:24801466G>T	ENST00000382120.3	+	2	528	c.323G>T	c.(322-324)aGc>aTc	p.S108I		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	108					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GAGCCGAACAGCTCCAGCCGC	0.726000													6	15					0.000157383	0.000171691	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321082	64321082	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr13:64321082C>A	ENST00000453638.2	+	1	149	c.149C>A	c.(148-150)tCt>tAt	p.S50Y																	endometrium(2)|lung(1)|urinary_tract(1)	4						ggctatggctctggttatggc	0.567000													11	21					7.03913e-09	8.60338e-09	1	1	0
FAT4	79633	broad.mit.edu	37	4	126408532	126408532	+	Silent	SNP	T	T	C	rs78040862	byFrequency	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:126408532T>C	ENST00000394329.3	+	16	12862	c.12849T>C	c.(12847-12849)gaT>gaC	p.D4283D	FAT4_ENST00000335110.5_Silent_p.D2524D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4283	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTACATCCGATGCAGGAATTG	0.323000													4	61					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14095142	14095142	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:14095142G>C	ENST00000382080.1	-	4	1098	c.383C>G	c.(382-384)gCa>gGa	p.A128G	SGCZ_ENST00000421524.2_Missense_Mutation_p.A81G	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	115					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTGATTTCTTGCATTCACTGT	0.378000													48	185					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786644	121786644	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:121786644C>T	ENST00000261367.7	+	12	3671	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P303L|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P641L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P748L|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P259L|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P335L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P701L|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	701					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGACCAAGGCCGCAGCCCATT	0.542000													5	48					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385684	111385684	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:111385684G>C	ENST00000529167.1	+	1	175	c.175G>C	c.(175-177)Gac>Cac	p.D59H	C11orf88_ENST00000375618.4_Missense_Mutation_p.D59H|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Missense_Mutation_p.D59H			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	59										endometrium(1)|large_intestine(3)|lung(2)	6						GCTGCGCAGAGACAGCAGTCA	0.582000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	54					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27389869	27389869	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:27389869A>G	ENST00000379214.4	-	18	2844	c.2401T>C	c.(2401-2403)Tat>Cat	p.Y801H	LGR4_ENST00000389858.4_Missense_Mutation_p.Y777H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	801						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAGAAAACATACAGGACTGGA	0.408000													26	132					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215661801	215661801	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:215661801C>T	ENST00000260947.4	-	2	333	c.199G>A	c.(199-201)Gag>Aag	p.E67K	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_Intron	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	67	Interaction with BRCA1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGATGTGCTCACATCCTCCT	0.318000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				33	160					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745960	77745960	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:77745960G>A	ENST00000409088.3	-	3	1449	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	LRRTM4_ENST00000409282.1_Silent_p.I346I|LRRTM4_ENST00000409093.1_Silent_p.I345I|LRRTM4_ENST00000409911.1_Silent_p.I346I|LRRTM4_ENST00000409884.1_Silent_p.I345I	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	345	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTCACCCTGGATGTGCTTAG	0.438000													4	17					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109814636	109814636	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:109814636A>G	ENST00000424296.2	-	41	5748	c.5672T>C	c.(5671-5673)aTt>aCt	p.I1891T	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ATCAAAGTCAATGGCTCTGAA	0.383000													28	176					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	440					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323000													33	37					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; 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			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)		GAGACGCACTCGTTGACGTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	35					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744489	70744489	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:70744489G>T	ENST00000260126.3	-	2	1126	c.420C>A	c.(418-420)atC>atA	p.I140I	SLCO5A1_ENST00000524945.1_Silent_p.I140I|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.I140I	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	140						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTAACGCCTGGATGAAGGTCA	0.562000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	65					3.09899e-07	3.5883e-07	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128383090	128383090	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:128383090G>A	ENST00000389524.4	+	30	4170	c.4117G>A	c.(4117-4119)Gtc>Atc	p.V1373I	MYO7B_ENST00000409816.2_Missense_Mutation_p.V1373I|MYO7B_ENST00000409090.1_Missense_Mutation_p.V226I|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1373I			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1373	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCGAGCCTCGTCACTGCCGC	0.657000													8	25					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16030516	16030516	+	Nonsense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:16030516A>T	ENST00000217246.4	+	17	1668	c.1273A>T	c.(1273-1275)Aaa>Taa	p.K425*	MACROD2_ENST00000407045.3_Nonsense_Mutation_p.K98*|MACROD2_ENST00000402914.1_Nonsense_Mutation_p.K213*|MACROD2_ENST00000310348.4_Nonsense_Mutation_p.K448*|MACROD2_ENST00000378058.3_Nonsense_Mutation_p.K213*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	448										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAATGGAACTAAATGACAATC	0.517000													6	35					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103517307	103517307	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:103517307C>T	ENST00000226574.4	+	14	1780	c.1313C>T	c.(1312-1314)aCt>aTt	p.T438I	NFKB1_ENST00000394820.4_Missense_Mutation_p.T437I|NFKB1_ENST00000600343.1_Missense_Mutation_p.T257I|NFKB1_ENST00000505458.1_Missense_Mutation_p.T437I	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	437	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ACCATGGACACTGAATCTAAA	0.353000													17	49					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41020109	41020109	+	RNA	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:41020109A>T	ENST00000585538.1	+	0	948					NR_002773.1																						CTACTATGACAGCCTGGCCCA	0.607000													6	29					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18278016	18278016	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:18278016C>T	ENST00000593731.1	+	13	2196	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	PIK3R2_ENST00000222254.7_Silent_p.L546L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	546					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GGAGCAGCAGCTGCGGGCCCA	0.632000													15	35					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284118	201284118	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:201284118G>T	ENST00000409988.3	+	6	867	c.344G>T	c.(343-345)aGc>aTc	p.S115I	SPATS2L_ENST00000409755.3_Missense_Mutation_p.S145I|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S115I|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S55I|SPATS2L_ENST00000358677.4_Missense_Mutation_p.S115I|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S115I|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S123I|SPATS2L_ENST00000451764.2_Missense_Mutation_p.S115I|SPATS2L_ENST00000360760.5_Missense_Mutation_p.S115I	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	115						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						GAGAAGGACAGCTCGTCCACA	0.532000													4	19					0.00909568	0.00935556	1	1	0
CEP68	23177	broad.mit.edu	37	2	65299528	65299528	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:65299528T>G	ENST00000377990.2	+	3	1501	c.1298T>G	c.(1297-1299)aTg>aGg	p.M433R	CEP68_ENST00000546106.1_Missense_Mutation_p.M433R|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_Missense_Mutation_p.M45R|CEP68_ENST00000260569.4_Missense_Mutation_p.M433R	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	433					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CACCTTGATATGGGCTCTCCC	0.657000													8	63					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124288	108124288	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:108124288G>A	ENST00000273353.3	-	34	4749	c.4693C>T	c.(4693-4695)Cgt>Tgt	p.R1565C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1565						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTCATTACGTTCCAGGGCT	0.333000													3	28					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547539	44547539	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:44547539C>A	ENST00000260649.6	+	10	1895	c.1819C>A	c.(1819-1821)Cta>Ata	p.L607I	PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.L329I|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.L238I	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	607					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACTGTTAAATCTACATAATAT	0.398000													33	91					5.60225e-13	7.39497e-13	1	1	0
USH2A	7399	broad.mit.edu	37	1	216019291	216019291	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:216019291G>T	ENST00000366943.2	-	45	9316	c.8930C>A	c.(8929-8931)cCa>cAa	p.P2977Q	USH2A_ENST00000307340.3_Missense_Mutation_p.P2977Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2977	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTACATCTGGCAAGATTTT	0.403000										HNSCC(13;0.011)			14	54					2.32078e-09	2.89003e-09	1	1	0
TLR7	51284	broad.mit.edu	37	X	12904461	12904461	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:12904461C>T	ENST00000380659.3	+	3	973	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	278					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATAATTCTCCCCTACAGATCC	0.398000													31	43					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684526	100684526	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:100684526A>T	ENST00000306151.4	+	3	9893	c.9829A>T	c.(9829-9831)Agt>Tgt	p.S3277C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3277	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAACTCCTAGTGAAGGAAG	0.507000													181	660					0	0	1	0	0
FDX1	2230	broad.mit.edu	37	11	110333128	110333128	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:110333128C>G	ENST00000260270.2	+	4	729	c.491C>G	c.(490-492)aCt>aGt	p.T164S		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	164	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GACAATATGACTGTTCGAGTG	0.398000													4	31					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390975	1390975	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:1390975G>A	ENST00000313408.7	+	5	357	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NDUFS7_ENST00000539480.1_Missense_Mutation_p.A112T|NDUFS7_ENST00000233627.9_Missense_Mutation_p.A112T|NDUFS7_ENST00000546283.1_Missense_Mutation_p.A112T|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.A142T			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	112					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GGTCTTCCGCGCCAGCCCGCG	0.672000													5	27					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4911002	4911002	+	RNA	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:4911002G>C	ENST00000592666.1	+	0	681							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCAGGAGCTGTTCCACGTGG	0.637000											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483789	43483789	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:43483789G>A	ENST00000300213.4	+	8	1018	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Missense_Mutation_p.R98Q	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	259	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		AAGAAAATTCGGATGTTAGTG	0.498000													6	57					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55967725	55967725	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:55967725A>G	ENST00000389286.4	-	9	1585	c.1538T>C	c.(1537-1539)cTa>cCa	p.L513P		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	513					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ACCATCCTCTAGAGTATTCTG	0.353000													27	33					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438545	25438545	+	RNA	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:25438545G>T	ENST00000424208.1	+	0	1404				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1																						ATTACGCTGAGGCCCAGTCTA	0.502000													43	385					3.61848e-18	4.95819e-18	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55653044	55653044	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:55653044C>A	ENST00000449290.2	+	2	232	c.140C>A	c.(139-141)gCa>gAa	p.A47E		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	47						intracellular	zinc ion binding										CAAGACACGGCAGTTCTTGCT	0.498000													18	55					3.32936e-07	3.84381e-07	1	1	0
BCL11A	53335	broad.mit.edu	37	2	60689420	60689420	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:60689420C>A	ENST00000335712.6	-	4	854	c.627G>T	c.(625-627)ccG>ccT	p.P209P	BCL11A_ENST00000538214.1_Silent_p.P175P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Silent_p.P209P|BCL11A_ENST00000537768.1_Silent_p.P57P|BCL11A_ENST00000358510.4_Silent_p.P175P|BCL11A_ENST00000356842.4_Silent_p.P209P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	209	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TACCAACCCGCGGGGTCAGGG	0.488000			T	IGH@	B-CLL								14	45					9.31168e-06	1.03579e-05	1	1	0
PSMA1	5682	broad.mit.edu	37	11	14536012	14536012	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:14536012C>G	ENST00000530457.1	-	5	735	c.205G>C	c.(205-207)Gat>Cat	p.D69H	PSMA1_ENST00000396393.1_Missense_Mutation_p.D94H|PSMA1_ENST00000419365.2_Missense_Mutation_p.D94H|PSMA1_ENST00000418988.2_Missense_Mutation_p.D100H|PSMA1_ENST00000555531.1_Missense_Mutation_p.D94H|PSMA1_ENST00000396394.2_Missense_Mutation_p.D94H			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATCTGGAATCCAAACACTCC	0.308000													5	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419091	105419091	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr14:105419091C>A	ENST00000333244.5	-	7	2816	c.2697G>T	c.(2695-2697)gtG>gtT	p.V899V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	899						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)			CCGGAAGTTTCACATCCACTT	0.622000													103	208					1.33835e-49	1.98497e-49	1	1	0
AQP12A	375318	broad.mit.edu	37	2	241631420	241631420	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:241631420A>G	ENST00000429564.1	+	1	153	c.90A>G	c.(88-90)ccA>ccG	p.P30P	AQP12A_ENST00000337801.4_Silent_p.P30P			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	30						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCCTGCTCCCAGTGGGCGCCT	0.692000													14	22					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88240532	88240532	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:88240532C>A	ENST00000369536.5	-	9	786	c.741G>T	c.(739-741)ttG>ttT	p.L247F		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	247					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTTCAATGCTCAAGTCCCGAA	0.463000													14	77					7.93312e-07	9.07953e-07	1	1	0
HTT	3064	broad.mit.edu	37	4	3184081	3184081	+	Splice_Site	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:3184081G>C	ENST00000355072.5	+	37	4895	c.4749_splice	c.e37-1	p.V1584_splice		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1584					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTCTTATAGGTGTTGGAGAT	0.493000													10	65					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396782	45396782	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:45396782C>A	ENST00000303230.4	-	4	1099	c.1042G>T	c.(1042-1044)Gca>Tca	p.A348S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	348						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A348T(2)|p.A348P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGAAGAGTGCGTATGAATAC	0.448000													19	60					2.4624e-09	3.04722e-09	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76256990	76256990	+	Silent	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:76256990T>C	ENST00000529032.1	+	19	3423	c.3423T>C	c.(3421-3423)tcT>tcC	p.S1141S	C11orf30_ENST00000533248.1_Silent_p.S1050S|C11orf30_ENST00000524767.1_Silent_p.S1156S|C11orf30_ENST00000525919.1_Silent_p.S1142S|C11orf30_ENST00000334736.3_Silent_p.S1141S|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Silent_p.S1043S|C11orf30_ENST00000525038.1_Silent_p.S1142S			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1141					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTCAGGCCTCTGAGAAGACAG	0.458000													20	81					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541954	187541954	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:187541954A>T	ENST00000441802.2	-	10	5995	c.5786T>A	c.(5785-5787)aTg>aAg	p.M1929K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1929	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTGTAGTCCATAGAAAACTT	0.458000										HNSCC(5;0.00058)			13	52					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118204014	118204014	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:118204014G>A	ENST00000369230.3	+	4	591	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	149					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTATTTTATTGATGTTCTCAT	0.313000													39	62					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616426	248616426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:248616426G>T	ENST00000342927.3	+	1	350	c.328G>T	c.(328-330)Gga>Tga	p.G110*		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACCCTGATTGGAGGGGAATT	0.542000													49	271					5.57489e-27	7.91275e-27	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20649575	20649575	+	RNA	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:20649575C>T	ENST00000428453.1	-	0	2623																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTCCCCATCCTGTAGGAGTT	0.597000													49	245					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256958	63256958	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:63256958T>G	ENST00000323865.3	-	1	822	c.589A>C	c.(589-591)Atc>Ctc	p.I197L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	197					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GTGGAATAGATAGTGTAGCCA	0.587000													24	176					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75230716	75230716	+	Silent	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:75230716T>A	ENST00000360663.5	-	7	927	c.816A>T	c.(814-816)ccA>ccT	p.P272P	PPP3CB_ENST00000545874.1_Silent_p.P186P|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000394829.2_Silent_p.P272P|PPP3CB_ENST00000342558.3_Silent_p.P272P|PPP3CB_ENST00000394828.2_Silent_p.P272P|PPP3CB_ENST00000394822.2_Silent_p.P290P			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	272	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CACACACTGCTGGATAGCTGT	0.333000													5	23					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59482612	59482612	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:59482612G>C	ENST00000240328.3	+	6	1382	c.1101G>C	c.(1099-1101)ttG>ttC	p.L367F	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	367					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CTGAGCGGTTGAGCGAGGAGC	0.751000													2	4					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26093018	26093018	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:26093018A>T	ENST00000357618.5	+	4	844	c.722A>T	c.(721-723)aAg>aTg	p.K241M	HFE_ENST00000488199.1_Missense_Mutation_p.K139M|HFE_ENST00000349999.4_Missense_Mutation_p.K153M|HFE_ENST00000336625.8_Missense_Mutation_p.K135M|HFE_ENST00000353147.5_Missense_Mutation_p.K61M|HFE_ENST00000352392.4_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.K218M|HFE_ENST00000309234.6_Missense_Mutation_p.K241M|HFE_ENST00000461397.1_Missense_Mutation_p.K227M|HFE_ENST00000317896.7_Missense_Mutation_p.K149M|HFE_ENST00000470149.1_Missense_Mutation_p.K238M	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	241	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGTGGCTGAAGGATAAGCAG	0.527000									Hemochromatosis				66	52					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915239	23915239	+	Missense_Mutation	SNP	T	T	G	rs144362131		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr13:23915239T>G	ENST00000382298.3	-	10	3364	c.2776A>C	c.(2776-2778)Ata>Cta	p.I926L	SACS_ENST00000402364.1_Missense_Mutation_p.I176L|SACS_ENST00000382292.3_Missense_Mutation_p.I926L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	926					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGCTTGAATATTGCCAATTCT	0.388000													28	54					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776915	25776915	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:25776915C>A	ENST00000377905.4	+	9	1199	c.1080C>A	c.(1078-1080)atC>atA	p.I360I	SLC17A4_ENST00000439485.2_Silent_p.I130I|SLC17A4_ENST00000397076.2_Silent_p.I130I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	360					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAGAAAAATCCTCAGACTCA	0.498000													76	66					2.69673e-31	3.91175e-31	1	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36278403	36278403	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:36278403T>G	ENST00000007510.4	+	21	3080	c.2936T>G	c.(2935-2937)cTg>cGg	p.L979R	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.L843R|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.L818R			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	979					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GATGGGAGCCTGCTGAGGAGC	0.687000													3	24					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33337975	33337975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:33337975G>A	ENST00000374796.2	-	10	4593	c.2023C>T	c.(2023-2025)Caa>Taa	p.Q675*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q675*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	675	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GTCATCCTTTGGGGCGAGGGC	0.577000													17	64					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41129046	41129046	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:41129046T>A	ENST00000373113.3	-	2	439	c.346A>T	c.(346-348)Agt>Tgt	p.S116C	TREM2_ENST00000373122.4_Missense_Mutation_p.S116C|TREM2_ENST00000338469.3_Missense_Mutation_p.S116C	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	116					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGCCTCACTGCCATGGAGG	0.602000													4	33					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166503	140166503	+	Silent	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:140166503T>C	ENST00000504120.2	+	1	628	c.628T>C	c.(628-630)Tta>Cta	p.L210L	PCDHA1_ENST00000394633.3_Silent_p.L210L|PCDHA1_ENST00000378133.3_Silent_p.L210L	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACTTCACTTATTACTGAC	0.433000													24	57					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63529901	63529901	+	Splice_Site	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr18:63529901G>C	ENST00000536984.2	+	11	2306		c.e11-1		CDH7_ENST00000323011.3_Splice_Site|CDH7_ENST00000397968.2_Splice_Site			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGTTATCCTAGACAACACAGC	0.403000													19	53					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6737392	6737392	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:6737392C>A	ENST00000405858.1	-	3	607	c.66G>T	c.(64-66)tgG>tgT	p.W22C	ZNF12_ENST00000342651.5_Missense_Mutation_p.W22C|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_5'UTR	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	22	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCAGCTGCTGCCATTCCTCCT	0.502000													63	123					2.50483e-33	3.64673e-33	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276986	71276986	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:71276986G>A	ENST00000398531.1	+	1	378	c.353G>A	c.(352-354)gGg>gAg	p.G118E	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	118	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTCCTGTGGGGGCTCCAAA	0.667000													69	132					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973906	29973906	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:29973906G>T	ENST00000378993.1	+	11	2733	c.2060G>T	c.(2059-2061)aGg>aTg	p.R687M	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R687M	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	687					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGTTGCCAAGGGAGACCAGT	0.537000													9	10					0.307466	0.307466	1	1	0
MDM2	4193	broad.mit.edu	37	12	69218366	69218366	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:69218366C>A	ENST00000462284.1	+	7	760	c.458C>A	c.(457-459)cCt>cAt	p.P153H	MDM2_ENST00000478070.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.P122H|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258149.5_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	147	Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAAGAGAAACCTTCATCTTCA	0.338000			A		"""sarcoma, glioma, colorectal, other"""								30	65					3.90053e-15	5.25377e-15	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113331135	113331135	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:113331135C>T	ENST00000297405.5	-	47	7535	c.7291G>A	c.(7291-7293)Ggt>Agt	p.G2431S	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2327S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2361S|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2391S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2431	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGCATTACCAACTAAAGTA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	66					0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48209371	48209371	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:48209371T>C	ENST00000302506.3	-	10	1402	c.994A>G	c.(994-996)Aat>Gat	p.N332D	CDC25A_ENST00000351231.3_Missense_Mutation_p.N292D|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	332					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CTTGGGTCATTGTCCAAAATG	0.453000													7	39					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26718751	26718751	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:26718751G>T	ENST00000396005.3	-	8	1309	c.1000C>A	c.(1000-1002)Cca>Aca	p.P334T	SLC5A12_ENST00000280467.6_Missense_Mutation_p.P334T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	334					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAAAGTCCTGGCAGTCCTGGC	0.393000													16	83					5.03518e-11	6.39081e-11	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84310988	84310988	+	Splice_Site	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:84310988A>G	ENST00000428679.2	-	16	1918		c.e16+1		SNAP91_ENST00000439399.2_Splice_Site|SNAP91_ENST00000369694.2_Splice_Site|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Splice_Site|SNAP91_ENST00000520302.1_Splice_Site|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Splice_Site|SNAP91_ENST00000195649.6_Splice_Site			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa						clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGACTAACTAACCTCCAAAGA	0.418000													11	20					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39785347	39785347	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:39785347A>G	ENST00000564288.1	+	31	4734	c.3957A>G	c.(3955-3957)gcA>gcG	p.A1319A	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Silent_p.A1324A|MACF1_ENST00000539005.1_Silent_p.A1324A|MACF1_ENST00000372915.3_Silent_p.A1324A|MACF1_ENST00000317713.7_Silent_p.A1324A|MACF1_ENST00000567887.1_Silent_p.A1356A|MACF1_ENST00000545844.1_Silent_p.A1324A			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1324					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCTATTTGCAGAAATTGAGA	0.358000													16	38					0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39964187	39964187	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:39964187A>G	ENST00000505747.1	-	10	1227	c.1200T>C	c.(1198-1200)gtT>gtC	p.V400V	THUMPD2_ENST00000260619.6_Silent_p.V370V	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	400							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				TGGTTCCGCCAACATGAAGCA	0.383000													13	95					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513141	61513141	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:61513141C>T	ENST00000266070.4	-	16	4492	c.4167G>A	c.(4165-4167)gaG>gaA	p.E1389E	DIDO1_ENST00000395343.1_Silent_p.E1389E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1389					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCGTACTCCTCCTCAGGGT	0.602000													15	127					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129453	65129453	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:65129453G>A	ENST00000371073.2	+	14	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R625H			Q5VU97	CAHD1_HUMAN	cache domain containing 1	676					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAGACAAAGCGCATGGTAGAG	0.542000													19	132					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74468789	74468789	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:74468789G>C	ENST00000591885.1	-	18	2593	c.2043C>G	c.(2041-2043)atC>atG	p.I681M	RHBDF2_ENST00000313080.4_Missense_Mutation_p.I710M|RHBDF2_ENST00000389760.4_Missense_Mutation_p.I681M			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	710					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ATGGGAGAAAGATGGCACTGG	0.597000													11	43					0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39109275	39109275	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:39109275C>G	ENST00000261425.3	+	9	1764	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	KLHL5_ENST00000261426.5_Missense_Mutation_p.Q523E|KLHL5_ENST00000504108.1_Missense_Mutation_p.Q584E|KLHL5_ENST00000508137.2_Missense_Mutation_p.Q397E|KLHL5_ENST00000359687.2_Missense_Mutation_p.Q584E|KLHL5_ENST00000381930.3_Missense_Mutation_p.Q584E	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	584						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGGACCCTCAGGCTCGCCA	0.483000													9	113					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823953	70823953	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:70823953G>A	ENST00000373695.1	+	7	1363	c.826G>A	c.(826-828)Gac>Aac	p.D276N	ACRC_ENST00000373696.3_Missense_Mutation_p.D276N			Q96QF7	ACRC_HUMAN	acidic repeat containing	276	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAGCAG	0.562000													16	175					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102516358	102516358	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:102516358G>T	ENST00000421544.1	+	16	3189	c.2699G>T	c.(2698-2700)aGg>aTg	p.R900M	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R851M|GRIK2_ENST00000369137.3_Missense_Mutation_p.R824M|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	900					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AACGACAGAAGGTTGCCAGGT	0.443000													16	32					1.5739e-10	1.98491e-10	1	1	0
CORO6	84940	broad.mit.edu	37	17	27944540	27944540	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:27944540C>T	ENST00000345068.5	-	6	944	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Intron|CORO6_ENST00000456796.3_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R244Q|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	244					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GCCCAGCTCTCGCTGGCTCAT	0.692000													12	17					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768361	77768361	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:77768361G>T	ENST00000521891.2	+	10	9652	c.9204G>T	c.(9202-9204)aaG>aaT	p.K3068N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K3023N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K3023N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K3042N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3023	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCGTATAAAGAAAGCTTCAG	0.567000										HNSCC(33;0.089)			35	94					4.3949e-29	6.28296e-29	1	1	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217388	26217388	+	Missense_Mutation	SNP	G	G	C	rs149871335		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:26217388G>C	ENST00000303910.2	+	1	224	c.186G>C	c.(184-186)gaG>gaC	p.E62D		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	62					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E62E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TGACGGCCGAGATCTTAGAGC	0.617000													8	81					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75274172	75274172	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:75274172G>T	ENST00000220822.7	+	4	618	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.D112Y	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	180	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			AGAAAACCCAGATTTACAAGA	0.363000													18	42					2.4624e-09	3.04722e-09	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22881296	22881296	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr21:22881296C>T	ENST00000400546.1	+	16	2451	c.2202C>T	c.(2200-2202)tgC>tgT	p.C734C	NCAM2_ENST00000284894.7_Silent_p.C592C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	734					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCTGATGTGCATCACTAGGA	0.463000													11	63					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120208652	120208652	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:120208652G>C	ENST00000392521.2	-	18	2200	c.2145C>G	c.(2143-2145)aaC>aaG	p.N715K	CIT_ENST00000261833.7_Intron|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	694					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTTCAGTCTGTTTTCTCTAC	0.423000													49	63					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353473	33353473	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:33353473G>A	ENST00000023064.4	-	5	689	c.498C>T	c.(496-498)aaC>aaT	p.N166N	SLC7A9_ENST00000587772.1_Silent_p.N166N|SLC7A9_ENST00000590341.1_Silent_p.N166N	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	166					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGCTCAGTGAGTTCACTGTCG	0.512000													9	25					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203802971	203802971	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:203802971A>G	ENST00000545588.1	+	9	4691	c.864A>G	c.(862-864)aaA>aaG	p.K288K	ZC3H11A_ENST00000367210.1_Silent_p.K288K|ZC3H11A_ENST00000332127.4_Silent_p.K288K|ZC3H11A_ENST00000367214.1_Silent_p.K288K|ZC3H11A_ENST00000367212.3_Silent_p.K288K	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	288							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAAACGAAAATTTTCAGCAG	0.343000													8	132					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579824	55579824	+	Silent	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:55579824T>C	ENST00000333973.2	+	1	971	c.882T>C	c.(880-882)aaT>aaC	p.N294N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTGAGAAATAAAGATGTGA	0.458000													5	54					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249147	20249147	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr14:20249147G>T	ENST00000315957.4	+	1	747	c.666G>T	c.(664-666)ctG>ctT	p.L222L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTCCTTCTGGCCTTGCTCA	0.478000													76	230					1.79293e-35	2.61993e-35	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176640115	176640115	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:176640115G>T	ENST00000367662.3	+	4	3165	c.2001G>T	c.(1999-2001)atG>atT	p.M667I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.M667I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	667	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGCATACATGAGTGTGAAGG	0.478000													40	142					2.19358e-23	3.08035e-23	1	1	0
POLQ	10721	broad.mit.edu	37	3	121248602	121248602	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:121248602G>T	ENST00000264233.5	-	7	1126	c.998C>A	c.(997-999)aCg>aAg	p.T333K	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	333	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCACAAATCGTCTCATAACA	0.338000								DNA polymerases (catalytic subunits)					17	68					5.3912e-06	6.03084e-06	1	1	0
RPS3	6188	broad.mit.edu	37	11	75115773	75115773	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:75115773G>C	ENST00000531188.1	+	6	658	c.596G>C	c.(595-597)gGc>gCc	p.G199A	RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000527446.1_Missense_Mutation_p.G199A|RPS3_ENST00000526608.1_Missense_Mutation_p.G187A|RPS3_ENST00000278572.6_Missense_Mutation_p.G215A|RPS3_ENST00000524851.1_Missense_Mutation_p.G199A|RPS3_ENST00000534440.1_Missense_Mutation_p.G114A	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	199					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GGTAAGATTGGCCCTAAGAAG	0.552000													21	79					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22923849	22923849	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:22923849C>G	ENST00000166244.3	+	10	1882	c.1810C>G	c.(1810-1812)Ctc>Gtc	p.L604V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	604						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGGGAAAGCTCCCAGAGCC	0.642000													25	54					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179300978	179300978	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:179300978G>C	ENST00000325748.4	-	7	878	c.678C>G	c.(676-678)atC>atG	p.I226M	PRKRA_ENST00000487082.1_Missense_Mutation_p.I201M|AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000438687.3_Missense_Mutation_p.I113M|PRKRA_ENST00000432031.2_Missense_Mutation_p.I215M	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	226	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TCAGTAAGTTGATCTTTTCAC	0.358000													46	189					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815031	152815031	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:152815031C>A	ENST00000370186.1	+	9	1699	c.1373C>A	c.(1372-1374)tCc>tAc	p.S458Y	ATP2B3_ENST00000393842.1_Missense_Mutation_p.S458Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.S472Y|ATP2B3_ENST00000349466.2_Missense_Mutation_p.S472Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.S458Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.S472Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	472					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCATCTGCTCCGACAAGACG	0.602000													19	37					3.51602e-12	4.59519e-12	1	1	0
HPS4	89781	broad.mit.edu	37	22	26860261	26860261	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr22:26860261G>C	ENST00000398145.2	-	11	1951	c.1335C>G	c.(1333-1335)gaC>gaG	p.D445E	HPS4_ENST00000398141.1_Missense_Mutation_p.D458E|HPS4_ENST00000336873.5_Missense_Mutation_p.D445E|HPS4_ENST00000402105.3_Missense_Mutation_p.D440E	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	445					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGCCAGGATGGTCTTCGAGCT	0.612000									Hermansky-Pudlak syndrome				28	76					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100243923	100243923	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:100243923G>A	ENST00000160382.5	-	13	1255	c.1149C>T	c.(1147-1149)acC>acT	p.T383T		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	383					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGCGCTCCATGGTGCTGTTGC	0.612000													14	31					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19514594	19514594	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:19514594G>A	ENST00000538714.1	+	25	3242	c.3238G>A	c.(3238-3240)Gat>Aat	p.D1080N	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D1011N|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D780N|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D1022N|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D966N|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D1080N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D1085N|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D1004N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D1188N	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1022							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGAAATGATGGATAAAGAAAG	0.289000													3	31					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320109	83320109	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:83320109G>A	ENST00000262752.2	-	21	1989	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S661F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	661	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCATATGGGAAAGCAAATC	0.343000													29	18					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91844699	91844699	+	Missense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:91844699T>A	ENST00000370425.3	-	9	1177	c.1079A>T	c.(1078-1080)aAt>aTt	p.N360I	HFM1_ENST00000370424.3_Missense_Mutation_p.N39I|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	360	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCTTTACAATTCAATCCTAT	0.323000													11	39					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28422230	28422230	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:28422230G>T	ENST00000261609.7	-	61	9406	c.9298C>A	c.(9298-9300)Cgt>Agt	p.R3100S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3100					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCCGGATACGCTTGGTTTTC	0.557000													15	43					1.99824e-07	2.34808e-07	1	1	0
P2RY2	5029	broad.mit.edu	37	11	72945733	72945733	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:72945733C>T	ENST00000311131.2	+	3	996	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	P2RY2_ENST00000393596.2_Missense_Mutation_p.R177C|P2RY2_ENST00000393597.2_Missense_Mutation_p.R177C	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CACCAGCGCGCGCGGGGGCCG	0.721000													6	37					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71537830	71537830	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:71537830C>T	ENST00000370920.3	-	6	788	c.487G>A	c.(487-489)Gat>Aat	p.D163N	ZRANB2_ENST00000254821.6_Missense_Mutation_p.D163N	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	163	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTAGAAAGAtcttcatcctca	0.343000													11	48					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170193	41170193	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:41170193C>T	ENST00000355653.3	-	3	721	c.626G>A	c.(625-627)tGc>tAc	p.C209Y	VAT1_ENST00000587173.1_Missense_Mutation_p.C141Y|VAT1_ENST00000420567.3_Missense_Mutation_p.C75Y	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	209						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACTGTACGGCACAGCTGCAC	0.587000													12	76					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436736	10436736	+	Silent	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:10436736G>C	ENST00000245503.5	-	21	2691	c.2307C>G	c.(2305-2307)gtC>gtG	p.V769V	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.V769V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	769	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTTGAAAAAGACCTGTGAAT	0.478000													31	65					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688714	60688714	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:60688714C>A	ENST00000335712.6	-	4	1560	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	BCL11A_ENST00000538214.1_Missense_Mutation_p.A411S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.A114S|BCL11A_ENST00000358510.4_Missense_Mutation_p.A411S|BCL11A_ENST00000356842.4_Missense_Mutation_p.A445S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	445					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGAGCTGGCGGTGGAGAGA	0.647000			T	IGH@	B-CLL								8	52					1.06961e-07	1.2758e-07	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176563798	176563798	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:176563798T>A	ENST00000367662.3	+	3	2222	c.1058T>A	c.(1057-1059)tTg>tAg	p.L353*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.L353*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	353					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCACCATCTTGATTAGCCAC	0.597000													24	74					0	0	1	0	0
PTGES3L-AARSD1	100885850	broad.mit.edu	37	17	41108286	41108286	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:41108286T>G	ENST00000421990.2	-	11	1465	c.1120A>C	c.(1120-1122)Aac>Cac	p.N374H	AARSD1_ENST00000427569.2_Missense_Mutation_p.N200H|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.N374H|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.N283H|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.N313H	NM_001136042.2	NP_001129514.2																					CCCTCGATGTTAACAACCCGA	0.537000													15	70					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57958311	57958311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:57958311G>A	ENST00000325752.3	-	4	758	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	TUBD1_ENST00000376094.4_Nonsense_Mutation_p.Q161*|TUBD1_ENST00000592426.1_Nonsense_Mutation_p.Q161*|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.Q161*|TUBD1_ENST00000394239.3_Nonsense_Mutation_p.Q161*|TUBD1_ENST00000539018.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	161					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.Q161E(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTTGAGTACTGATCTTCTAAA	0.368000													35	314					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509226	228509226	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:228509226A>G	ENST00000570156.2	+	66	17629	c.17555A>G	c.(17554-17556)cAg>cGg	p.Q5852R	OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2529R|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4895R|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q2014R|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4895R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4895	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGAAGCAGCAGGAAGGGCCC	0.592000													3	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583535	179583535	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:179583535A>C	ENST00000589042.1	-	84	24616	c.24392T>G	c.(24391-24393)tTt>tGt	p.F8131C	TTN_ENST00000591111.1_Missense_Mutation_p.F7814C|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F6887C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7814	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTGACAAAATCTTCCAG	0.488000													12	54					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216410	27216410	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:27216410C>A	ENST00000374135.4	-	1	378	c.178G>T	c.(178-180)Gtg>Ttg	p.V60L		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	60							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						AGCTCGCCCACGTCCACGGCA	0.706000													7	20					2.0095e-06	2.28667e-06	1	1	0
SLC9A4	389015	broad.mit.edu	37	2	103121898	103121898	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:103121898C>G	ENST00000295269.4	+	4	1623	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	389					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCTGCTTCACCCTGGCCTTC	0.537000													22	40					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	50					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649574	20649574	+	RNA	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:20649574C>T	ENST00000428453.1	-	0	2624																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTTTCCCCATCCTGTAGGAGT	0.592000													50	249					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889169	23889169	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:23889169C>A	ENST00000532292.1	-	1	2006	c.1912G>T	c.(1912-1914)Ggc>Tgc	p.G638C		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGGTGGGGCCGTGGGCACTG	0.587000													8	32					0.000157383	0.000171691	1	1	0
CXADRP3	440224	broad.mit.edu	37	18	14478348	14478348	+	RNA	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr18:14478348G>A	ENST00000581457.1	-	0	1560					NR_024076.1																						GTTGGAAGGAGACATGGATTC	0.498000													11	19					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37180961	37180961	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:37180961C>T	ENST00000274258.7	-	27	5798	c.2211G>A	c.(2209-2211)ttG>ttA	p.L737L	C5orf42_ENST00000425232.2_Silent_p.L1856L|C5orf42_ENST00000508244.1_Silent_p.L1856L			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1856										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAACTTACTTCAAGATATTTT	0.388000													13	33					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158531791	158531791	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:158531791A>T	ENST00000415822.2	+	7	875	c.734A>T	c.(733-735)tAt>tTt	p.Y245F	MFSD1_ENST00000264266.8_Missense_Mutation_p.Y196F|MFSD1_ENST00000392813.4_Missense_Mutation_p.Y206F	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	196					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGATGGCTGTATTCTAAGATT	0.398000													9	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397655	179397655	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:179397655C>A	ENST00000589042.1	-	358	103911	c.103687G>T	c.(103687-103689)Gtg>Ttg	p.V34563L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V32922L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V25623L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V31995L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V25690L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V25498L|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32922							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGGGCACGAACTGCTTG	0.458000													18	106					1.67942e-08	2.04003e-08	1	1	0
CENPE	1062	broad.mit.edu	37	4	104029995	104029995	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:104029995C>A	ENST00000265148.3	-	48	8065	c.7976G>T	c.(7975-7977)cGc>cTc	p.R2659L	CENPE_ENST00000380026.3_Missense_Mutation_p.R2538L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2659	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATCAAAATAGCGAACTGGATG	0.373000													21	45					4.96729e-08	5.97887e-08	1	1	0
LHCGR	3973	broad.mit.edu	37	2	48958432	48958432	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:48958432A>C	ENST00000294954.7	-	2	188	c.167T>G	c.(166-168)cTt>cGt	p.L56R	LHCGR_ENST00000401907.1_Missense_Mutation_p.L56R|LHCGR_ENST00000344775.3_Missense_Mutation_p.L56R|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.L56R|LHCGR_ENST00000405626.1_Missense_Mutation_p.L56R	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	56	LRRNT.				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.L56P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GAGGTAGGCAAGTGATCTAGA	0.358000													8	55					0	0	1	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080557	70080557	+	RNA	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:70080557G>C	ENST00000505646.1	+	0	721																											TATATTATAGGAGCATCCTGA	0.303000													6	57					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17095397	17095397	+	Silent	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:17095397T>C	ENST00000357277.3	+	13	1554	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	REPS2_ENST00000303843.7_Silent_p.S460S|REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	461					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GCTACAGATCTTACTCTAGCA	0.502000													38	98					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4423818	4423818	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:4423818A>G	ENST00000301280.5	+	7	1425	c.1324A>G	c.(1324-1326)Aag>Gag	p.K442E		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	442	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAAGCAGAGAAGGCCGAAAT	0.507000								Chromatin Structure					11	56					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333153	54333153	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:54333153G>A	ENST00000243056.3	+	1	619	c.463G>A	c.(463-465)Gag>Aag	p.E155K	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TAAATACCCGGAGCCGTCGGG	0.667000			T	NUP98	AML								8	11					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249276	72249276	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:72249276G>T	ENST00000441391.2	+	6	1565	c.353G>T	c.(352-354)cGc>cTc	p.R118L	TTYH2_ENST00000269346.4_Missense_Mutation_p.R439L|TTYH2_ENST00000529107.1_Missense_Mutation_p.R418L	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	439						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAAGCCTGGCGCATGGCGGCT	0.587000													44	174					6.21074e-16	8.42279e-16	1	1	0
SPIRE2	84501	broad.mit.edu	37	16	89922095	89922095	+	Splice_Site	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr16:89922095G>C	ENST00000378247.3	+	6	1021		c.e6+1		SPIRE2_ENST00000393062.2_Splice_Site	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2						transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACTGAAGCAGGTGCTGCCCCA	0.677000													5	23					0	0	1	0	0
WLS	79971	broad.mit.edu	37	1	68611687	68611687	+	Silent	SNP	G	G	A	rs149299689	byFrequency	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:68611687G>A	ENST00000262348.4	-	9	1396	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	WLS_ENST00000370976.3_Silent_p.F290F|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.F381F|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Silent_p.F379F	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	381					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CCACGATGATGAAGGCCATCT	0.537000													7	53					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893787	78893787	+	Silent	SNP	G	G	A	rs56403513	byFrequency	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:78893787G>A	ENST00000326828.5	-	5	1581	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	CHRNA3_ENST00000348639.3_Silent_p.D399D	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	399					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACACATCCCGTCCTGGCAGG	0.542000													8	130					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823923	70823923	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:70823923G>A	ENST00000373695.1	+	7	1333	c.796G>A	c.(796-798)Gac>Aac	p.D266N	ACRC_ENST00000373696.3_Missense_Mutation_p.D266N			Q96QF7	ACRC_HUMAN	acidic repeat containing	266	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAGCAG	0.562000													50	105					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43547901	43547901	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:43547901C>G	ENST00000306846.3	-	3	782	c.550G>C	c.(550-552)Gca>Cca	p.A184P	PAIP1_ENST00000436644.2_Missense_Mutation_p.A105P|PAIP1_ENST00000338972.4_Missense_Mutation_p.A72P|PAIP1_ENST00000514514.1_Missense_Mutation_p.A105P	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	184	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AGGGTCTCTGCAAACTGTTCA	0.398000													21	82					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13959957	13959957	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:13959957C>A	ENST00000382080.1	-	7	1387	c.672G>T	c.(670-672)caG>caT	p.Q224H	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q177H	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	211					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAGCACTCACCTGGACCCCAC	0.488000													6	23					0.217242	0.218345	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161580205	161580205	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:161580205A>G	ENST00000356592.3	+	10	1719	c.1259A>G	c.(1258-1260)aAg>aGg	p.K420R	GABRG2_ENST00000393933.4_Missense_Mutation_p.K317R|GABRG2_ENST00000414552.2_Missense_Mutation_p.K460R|GABRG2_ENST00000361925.4_Missense_Mutation_p.K412R	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	412					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGGACGGCAAGGACTGTGCC	0.453000													19	88					0	0	1	0	0
PCMT1	5110	broad.mit.edu	37	6	150111133	150111133	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:150111133G>T	ENST00000464889.1	+	4	694	c.410G>T	c.(409-411)gGa>gTa	p.G137V	PCMT1_ENST00000367378.1_Missense_Mutation_p.G137V|PCMT1_ENST00000367380.5_Missense_Mutation_p.G79V|PCMT1_ENST00000544496.1_Missense_Mutation_p.G44V|PCMT1_ENST00000367384.2_Missense_Mutation_p.G137V					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TTGCATGAAGGAGCTAAAGCT	0.378000													19	92					2.37509e-13	3.14561e-13	1	1	0
TIRAP	114609	broad.mit.edu	37	11	126162538	126162538	+	Silent	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:126162538C>T	ENST00000392679.1	+	4	517	c.234C>T	c.(232-234)ggC>ggT	p.G78G	TIRAP_ENST00000392678.3_Silent_p.G78G|TIRAP_ENST00000392680.2_Silent_p.G78G			P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	78					3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		GTGACAGTGGCAGTAGTCGCT	0.607000													11	18					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133634908	133634908	+	Missense_Mutation	SNP	G	G	T	rs76147813	byFrequency	TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:133634908G>T	ENST00000519595.1	-	7	961	c.863C>A	c.(862-864)cCc>cAc	p.P288H	LRRC6_ENST00000250173.1_Missense_Mutation_p.P288H|LRRC6_ENST00000518642.1_Missense_Mutation_p.P288H			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	288						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAAAGTCCTGGGTGGTTTCAC	0.398000													121	98					1.6696e-61	2.48558e-61	1	1	0
NRD1	4898	broad.mit.edu	37	1	52275959	52275959	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:52275959T>C	ENST00000354831.7	-	18	2290	c.2101A>G	c.(2101-2103)Ata>Gta	p.I701V	NRD1_ENST00000352171.7_Missense_Mutation_p.I633V|NRD1_ENST00000544028.1_Missense_Mutation_p.I501V|NRD1_ENST00000539524.1_Missense_Mutation_p.I569V|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	632					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTACCTTCTATACTATATTGA	0.313000													6	14					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161578742	161578742	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:161578742C>T	ENST00000356592.3	+	9	1595	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419W|GABRG2_ENST00000361925.4_Intron	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R379W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAAGCTTCTTCGGATGTTTTC	0.279000													11	67					0	0	1	0	0
RPUSD2	27079	broad.mit.edu	37	15	40861783	40861783	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:40861783C>T	ENST00000315616.7	+	1	285	c.247C>T	c.(247-249)Cca>Tca	p.P83S	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P83S	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	83					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GGAGCCGGCCCCAGTAGGCGG	0.711000													6	4					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67284002	67284002	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chrX:67284002T>C	ENST00000355520.5	-	21	2493	c.1852A>G	c.(1852-1854)Aca>Gca	p.T618A	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	618					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCATTCGGTGTTTGATGTTGG	0.413000													38	41					0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153709175	153709175	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:153709175A>G	ENST00000297107.6	+	4	582	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.I149V|GALNT10_ENST00000377661.2_Missense_Mutation_p.I149V	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	149	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CAACACAAGCATCATCATCCC	0.587000													5	52					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067674	175067674	+	Missense_Mutation	SNP	G	G	T	rs149504279		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:175067674G>T	ENST00000239462.4	+	9	2175	c.2062G>T	c.(2062-2064)Gtg>Ttg	p.V688L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	688	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.V688M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATGGTGCACGTGTGGGCCCA	0.612000													21	73					6.44725e-10	8.07947e-10	1	1	0
USP48	84196	broad.mit.edu	37	1	22030039	22030039	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:22030039G>A	ENST00000308271.9	-	21	3236	c.2588C>T	c.(2587-2589)aCc>aTc	p.T863I	USP48_ENST00000374732.3_Missense_Mutation_p.T401I|USP48_ENST00000529637.1_Missense_Mutation_p.T875I|USP48_ENST00000400301.1_Missense_Mutation_p.T863I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	863					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GACATAGATGGTGGCTTGAGT	0.433000													16	94					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5292182	5292182	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr18:5292182C>T	ENST00000357006.4	-	4	363	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E9K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		TTAATGGTTTCAGACATACTG	0.299000													5	25					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117624462	117624462	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:117624462G>C	ENST00000369466.3	+	10	1840	c.1796G>C	c.(1795-1797)gGc>gCc	p.G599A		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	599	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GATGATATGGGCTTAGGAAAA	0.408000													10	44					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254796	51254796	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:51254796C>T	ENST00000404971.1	-	2	1955	c.616G>A	c.(616-618)Gat>Aat	p.D206N	NRXN1_ENST00000405581.1_Missense_Mutation_p.D206N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D206N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D206N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D206N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D206N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D206N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	206	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCGGCTCATCGTCCAGCTTC	0.697000													8	3					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537000		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)			28	38					2.48779e-11	3.18824e-11	1	1	0
OR5V1	81696	broad.mit.edu	37	6	29323341	29323341	+	Missense_Mutation	SNP	A	A	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:29323341A>C	ENST00000377154.1	-	4	931	c.632T>G	c.(631-633)tTc>tGc	p.F211C	OR5V1_ENST00000543825.1_Missense_Mutation_p.F211C			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATACAAAGGAAAGGAGTCCA	0.473000													48	43					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122281703	122281703	+	Missense_Mutation	SNP	T	T	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:122281703T>G	ENST00000543163.1	-	13	1195	c.750A>C	c.(748-750)ttA>ttC	p.L250F	HPD_ENST00000289004.4_Missense_Mutation_p.L289F	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	289					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	AGGGAACAGATAAGAACTCCA	0.547000													5	57					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319229	43319229	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr21:43319229G>T	ENST00000380486.3	-	13	2044	c.1803C>A	c.(1801-1803)ccC>ccA	p.P601P	C2CD2_ENST00000329623.7_Silent_p.P446P	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	601						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CATCACCGTCGGGGTCCAGCA	0.647000													12	39					0.00136819	0.00143715	1	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305588	39305588	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:39305588G>A	ENST00000343246.4	-	1	466	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	149	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACgcagcagcaggggcggc	0.652000													10	11					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27180281	27180281	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:27180281G>A	ENST00000374142.3	+	8	1209	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	372						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		CAGAAGCGATGAGCCAGCCTG	0.602000											OREG0013274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	84	145					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801308	9801308	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr19:9801308G>T	ENST00000457674.2	-	5	1389	c.871C>A	c.(871-873)Cac>Aac	p.H291N	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAGTAAGGTGAGTTGACCTA	0.398000													35	63					9.04072e-19	1.24743e-18	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112450151	112450151	+	Silent	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:112450151G>T	ENST00000230538.7	-	31	4657	c.4260C>A	c.(4258-4260)tcC>tcA	p.S1420S	LAMA4_ENST00000389463.4_Silent_p.S1413S|LAMA4_ENST00000522006.1_Silent_p.S1413S|LAMA4_ENST00000424408.2_Silent_p.S1413S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1420					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTTTAGGCTTGGATAAATTTT	0.368000													16	52					4.14922e-12	5.4049e-12	1	1	0
CCT7	10574	broad.mit.edu	37	2	73479815	73479815	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:73479815C>A	ENST00000539919.1	+	13	1697	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	CCT7_ENST00000538797.1_Missense_Mutation_p.D358E|CCT7_ENST00000258091.5_Missense_Mutation_p.D486E|CCT7_ENST00000398422.2_Missense_Mutation_p.D282E|CCT7_ENST00000540468.1_Missense_Mutation_p.D399E|CCT7_ENST00000537131.1_Missense_Mutation_p.D386E	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	486					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ACATTGCTGACAACTTTGAAG	0.478000													20	62					8.10497e-08	9.69658e-08	1	1	0
STAC2	342667	broad.mit.edu	37	17	37369269	37369269	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:37369269G>A	ENST00000333461.5	-	10	1479	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	370					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TGAGGCTCATGTAACCCTGTT	0.627000													19	62					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186274030	186274030	+	Missense_Mutation	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:186274030A>G	ENST00000445192.2	+	6	619	c.574A>G	c.(574-576)Aga>Gga	p.R192G	PRG4_ENST00000367484.3_Missense_Mutation_p.R151G|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.R151G|PRG4_ENST00000367486.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	192					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						AGCTGCTAATAGAGAATTACA	0.343000													20	40					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222793	140222793	+	Silent	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:140222793C>A	ENST00000531613.1	+	1	1887	c.1887C>A	c.(1885-1887)ggC>ggA	p.G629G	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGGCGAGATCAGCA	0.652000													29	101					2.85442e-18	3.92482e-18	1	1	0
SYNPO	11346	broad.mit.edu	37	5	150028560	150028560	+	Silent	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:150028560G>A	ENST00000394243.1	+	3	1829	c.1455G>A	c.(1453-1455)agG>agA	p.R485R	SYNPO_ENST00000522122.1_Silent_p.R485R|SYNPO_ENST00000307662.4_Silent_p.R241R|SYNPO_ENST00000519664.1_Silent_p.R241R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	485					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACGGCCAGGCCTTTTGGGA	0.642000													9	94					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765933	61765933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:61765933G>T	ENST00000423902.2	+	31	7128	c.6649G>T	c.(6649-6651)Gaa>Taa	p.E2217*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2217	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGTGAAAAATGAACTGAAAGG	0.493000													21	32					6.33239e-15	8.50042e-15	1	1	0
AQP12A	375318	broad.mit.edu	37	2	241631592	241631592	+	Missense_Mutation	SNP	G	G	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:241631592G>C	ENST00000429564.1	+	2	324	c.261G>C	c.(259-261)ttG>ttC	p.L87F	AQP12A_ENST00000337801.4_Missense_Mutation_p.L75F			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	75						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGTCACCTTGGACGGGGCCT	0.677000													20	32					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62464059	62464059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:62464059C>T	ENST00000383710.4	-	23	3555	c.3206G>A	c.(3205-3207)tGg>tAg	p.W1069*	CADPS_ENST00000357948.3_Nonsense_Mutation_p.W990*|CADPS_ENST00000283269.9_Nonsense_Mutation_p.W1030*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1069	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTCAAGTTTCCAAAACAGATC	0.483000													5	49					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106634022	106634022	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:106634022C>T	ENST00000378026.4	-	2	725	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	197						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						ATCCGGCTGACCTCACTCTCC	0.512000													18	76					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163310197	163310197	+	Missense_Mutation	SNP	C	C	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:163310197C>T	ENST00000271452.3	+	9	929	c.650C>T	c.(649-651)tCa>tTa	p.S217L	NUF2_ENST00000367900.3_Missense_Mutation_p.S217L|NUF2_ENST00000524800.1_Missense_Mutation_p.S217L	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	217	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TCAAATATTTCAGAGAAAACC	0.323000													25	77					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156091	120156091	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:120156091G>A	ENST00000392521.2	-	32	4182	c.4127C>T	c.(4126-4128)gCc>gTc	p.A1376V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A1334V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1334					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGATGGCGGGGCCAGCAGGCT	0.587000													20	35					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67885300	67885300	+	Silent	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr15:67885300A>T	ENST00000178640.5	+	7	1095	c.468A>T	c.(466-468)ctA>ctT	p.L156L	MAP2K5_ENST00000354498.5_Silent_p.L120L|MAP2K5_ENST00000395476.2_Silent_p.L156L|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	156					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						AAAAAATACTAGCCAATGGCC	0.308000													30	27					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153657	101153657	+	Silent	SNP	A	A	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:101153657A>G	ENST00000428847.2	-	2	1141	c.825T>C	c.(823-825)gaT>gaC	p.D275D		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	275					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATGCATTCTCATCATTAATGC	0.388000													47	21					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61278170	61278170	+	Silent	SNP	T	T	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:61278170T>A	ENST00000424789.2	+	5	403	c.399T>A	c.(397-399)acT>acA	p.T133T	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Silent_p.T133T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	133							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGTTCCACTCTGACTAGCA	0.473000													26	335					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53715194	53715194	+	Missense_Mutation	SNP	T	T	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:53715194T>C	ENST00000306052.6	-	18	2812	c.2711A>G	c.(2710-2712)gAg>gGg	p.E904G	LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Missense_Mutation_p.E734G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	904					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						aagacagggctctgcccacag	0.592000													5	20					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753945	207753945	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:207753945G>T	ENST00000367049.4	+	31	5203	c.5203G>T	c.(5203-5205)Gtc>Ttc	p.V1735F	CR1_ENST00000367052.1_Missense_Mutation_p.V1285F|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.V1285F|CR1_ENST00000367053.1_Missense_Mutation_p.V1285F|CR1_ENST00000400960.2_Missense_Mutation_p.V1285F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1285	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGTGTCCTTTGTCTGTGATGA	0.478000													63	162					6.1719e-39	9.08577e-39	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113265498	113265498	+	Splice_Site	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr9:113265498C>G	ENST00000401783.2	-	6	1640		c.e6-1		SVEP1_ENST00000467821.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site|SVEP1_ENST00000374469.1_Splice_Site|SVEP1_ENST00000374461.1_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATGTTCTTACTATGTAAAAT	0.358000													7	42					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97063574	97063574	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr6:97063574G>A	ENST00000326771.2	+	7	1161	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	FHL5_ENST00000541107.1_Missense_Mutation_p.G261S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	261	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTCCTTGGTGGGTAAAGGCTT	0.483000													5	51					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285604	48285604	+	Missense_Mutation	SNP	A	A	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:48285604A>T	ENST00000320048.1	+	1	192	c.192A>T	c.(190-192)ttA>ttT	p.L64F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGCTACTTATCCTTTGTGG	0.488000													5	59					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252801	124252801	+	Missense_Mutation	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:124252801C>A	ENST00000375013.2	-	1	457	c.439G>T	c.(439-441)Gct>Tct	p.A147S		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATGTAAGCAGCAAAAGTGAGC	0.468000													3	23					3.59834e-05	3.95817e-05	1	1	0
OPN3	23596	broad.mit.edu	37	1	241767839	241767839	+	Missense_Mutation	SNP	C	C	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:241767839C>G	ENST00000366554.2	-	2	522	c.416G>C	c.(415-417)cGt>cCt	p.R139P	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	139					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GCGAATGTAACGTTCATAGGC	0.527000													11	75					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11385007	11385007	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:11385007G>A	ENST00000304623.8	-	7	1136	c.947C>T	c.(946-948)cCc>cTc	p.P316L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P225L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P316L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_Intron	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	316					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATGTTGATGGGCGAGCTGGT	0.731000													4	7					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004200	40004200	+	Missense_Mutation	SNP	G	G	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:40004200G>A	ENST00000293303.4	+	5	1621	c.1468G>A	c.(1468-1470)Gga>Aga	p.G490R		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	490						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGGCTTTGATGGAGCTAATCG	0.488000													28	63					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144107144	144107144	+	Missense_Mutation	SNP	G	G	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:144107144G>T	ENST00000307017.4	+	1	1047	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	USP38_ENST00000510377.1_Missense_Mutation_p.V181L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	181					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTTCCAGTGCGTGTCCACCCA	0.527000													33	46					7.63505e-26	1.07597e-25	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752557	62752557	+	RNA	SNP	C	C	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:62752557C>A	ENST00000331425.6	-	0	878					NR_003952.1																						AAAGGCTTTGCCACATTCTTC	0.478000													12	59					0.000229342	0.000249504	1	1	0
HIST2H3D	653604	broad.mit.edu	37	1	149784999	149785000	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:149784999_149785000insA	ENST00000331491.1	-	1	236_237	c.237_238insT	c.(235-240)ttagacfs	p.LD79fs		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	79					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTCCGTCTTAAAGTCCTGCG	0.649													14	34	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158612621	158612622	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr1:158612621_158612622insT	ENST00000368148.3	-	32	4767_4768	c.4587_4588insA	c.(4585-4590)aaacgcfs	p.R1530fs	SPTA1_ENST00000368147.3_Frame_Shift_Ins_p.R1530fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1530					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTAGTGGCGTCTTTGTAGGATT	0.436													50	135	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:9989571delA	ENST00000263663.5	+	3	375	c.187delA	c.(187-189)aafs	p.K65fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	65					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													7	17	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													2	4	---	---	---	---					
DRD3	1814	broad.mit.edu	37	3	113847755	113847755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr3:113847755delG	ENST00000383673.2	-	7	1441	c.1011delC	c.(1009-1011)gcfs	p.A337fs	DRD3_ENST00000295881.7_Frame_Shift_Del_p.A304fs|DRD3_ENST00000467632.1_Frame_Shift_Del_p.A337fs|DRD3_ENST00000460779.1_Frame_Shift_Del_p.A337fs	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGACAATGAAGGCCCCTAAGT	0.483													23	112	---	---	---	---					
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr4:42965114delC	ENST00000399770.2	+	2	590	c.590delC	c.(589-591)tcfs	p.S197fs		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433													322	322	---	---	---	---					
NNT	23530	broad.mit.edu	37	5	43649325	43649325	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr5:43649325delG	ENST00000264663.5	+	11	1742	c.1521delG	c.(1519-1521)ttfs	p.L507fs	NNT_ENST00000512996.2_Frame_Shift_Del_p.L376fs|NNT_ENST00000344920.4_Frame_Shift_Del_p.L507fs	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	507					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTTTTGGCTTGGCTGGCATTG	0.502													62	219	---	---	---	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													8	160	---	---	---	---					
CLDN12	9069	broad.mit.edu	37	7	90042648	90042649	+	Frame_Shift_Ins	INS	-	-	A			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:90042648_90042649insA	ENST00000535571.1	+	2	967_968	c.658_659insA	c.(658-660)ctcfs	p.L220fs	CLDN12_ENST00000287916.4_Frame_Shift_Ins_p.L220fs|CLDN12_ENST00000394605.2_Frame_Shift_Ins_p.L220fs	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	220					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TATGCATACTTACTCACAGCCC	0.406													129	206	---	---	---	---					
TRRAP	8295	broad.mit.edu	37	7	98609880	98609880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr7:98609880delT	ENST00000359863.4	+	72	11691	c.11482delT	c.(11482-11484)tcfs	p.F3828fs	TRRAP_ENST00000355540.3_Frame_Shift_Del_p.F3799fs|TRRAP_ENST00000446306.3_Frame_Shift_Del_p.F3817fs	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3828	FATC.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCGCCCAGTTCGAAGGCGG	0.647													11	32	---	---	---	---					
PSKH2	85481	broad.mit.edu	37	8	87060724	87060724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr8:87060724delC	ENST00000276616.2	-	3	1199	c.1125delG	c.(1123-1125)agfs	p.R375fs		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	375							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATTCTACTATCCTTAAGTTTC	0.438													42	99	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8007166	8007166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:8007166delG	ENST00000344293.5	+	3	1899	c.1693delG	c.(1693-1695)acfs	p.D565fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	565	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						gaaagagaaagacaaggaAAC	0.363													7	44	---	---	---	---					
RET	5979	broad.mit.edu	37	10	43622119	43622120	+	Frame_Shift_Ins	INS	-	-	C			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr10:43622119_43622120insC	ENST00000355710.3	+	19	3368_3369	c.3136_3137insC	c.(3136-3138)cccfs	p.P1046fs	RET_ENST00000340058.5_Frame_Shift_Ins_p.P1046fs	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1046					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGTAATAATGCCCCCCTCCCT	0.530		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				21	70	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108129792	108129792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr11:108129792delG	ENST00000278616.4	+	16	2841	c.2456delG	c.(2455-2457)ttfs	p.C819fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.C819fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	819					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCAGATATTTGTAAAAGTTTA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	25	---	---	---	---					
PFKM	5213	broad.mit.edu	37	12	48525151	48525151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr12:48525151delA	ENST00000340802.6	+	6	649	c.425delA	c.(424-426)ggfs	p.E142fs	PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000551804.1_Frame_Shift_Del_p.E71fs|PFKM_ENST00000547587.1_Frame_Shift_Del_p.E71fs|PFKM_ENST00000395233.2_Frame_Shift_Del_p.E71fs|PFKM_ENST00000312352.7_Frame_Shift_Del_p.E71fs|PFKM_ENST00000359794.5_Frame_Shift_Del_p.E71fs	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	71					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCCACCTGGGAGAGCGTTTCG	0.488													10	85	---	---	---	---					
FSCB	84075	broad.mit.edu	37	14	44974523	44974523	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr14:44974523delA	ENST00000340446.4	-	1	1959	c.1668delT	c.(1666-1668)ccfs	p.P556fs		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	556	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGAGCCTCTT	0.507													21	31	---	---	---	---					
LPO	4025	broad.mit.edu	37	17	56343649	56343649	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr17:56343649delC	ENST00000262290.4	+	11	1971	c.1655delC	c.(1654-1656)gcfs	p.A552fs	LPO_ENST00000543544.1_Frame_Shift_Del_p.A493fs|LPO_ENST00000582328.1_Frame_Shift_Del_p.A469fs|LPO_ENST00000421678.2_Frame_Shift_Del_p.A469fs	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	552					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GACCTGGCTGCCATCAACACA	0.502													11	42	---	---	---	---					
TAF4	6874	broad.mit.edu	37	20	60573216	60573217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-69-8255-01A-11D-2284-08	TCGA-69-8255-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45c36eb-e90a-4493-8020-5d9bce7b328e	457d76f9-2695-4cb7-a7ba-a31cebfbc053	g.chr20:60573216_60573217insG	ENST00000252996.3	-	13	2944_2945	c.2945_2946insC	c.(2944-2946)tagfs	p.*982fs		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	982					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTTTCAGCCTTAACTGTTCTGG	0.450													15	66	---	---	---	---